#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
A2ML1	144568	genome.wustl.edu	37	12	9013757	9013757	+	Silent	SNP	G	G	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:9013757G>C	ENST00000299698.7	+	28	3546	c.3366G>C	c.(3364-3366)cgG>cgC	p.R1122R	A2ML1_ENST00000539547.1_Silent_p.R631R	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AGGGTCTACGGTGTCTCAAGA	0.443																																																	0													138.0	139.0	139.0					12																	9013757		1971	4151	6122	SO:0001819	synonymous_variant	0			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.3366G>C	12.37:g.9013757G>C				Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.R1122	ENST00000299698.7	37	c.3366	CCDS8596.2	12																																																																																			A2ML1	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000166535		0.443	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2ML1	HGNC	protein_coding	OTTHUMT00000250304.3	-	0.00	60	0	G	NM_144670		9013757	+1	tier1	-	no_errors	ENST00000299698	ensembl	human	known	74_37	silent	12.31	57	8	SNP	0.314	C
ABCA13	154664	genome.wustl.edu	37	7	48431574	48431574	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:48431574A>G	ENST00000435803.1	+	38	11735	c.11711A>G	c.(11710-11712)aAg>aGg	p.K3904R		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3904	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCAATGGCAAGAACCTACAG	0.527																																																	0													88.0	89.0	89.0					7																	48431574		1999	4166	6165	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11711A>G	7.37:g.48431574A>G	ENSP00000411096:p.Lys3904Arg		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.K3904R	ENST00000435803.1	37	c.11711	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	A	10.37	1.330837	0.24167	.	.	ENSG00000179869	ENST00000435803	D	0.94000	-3.33	5.32	2.95	0.34219	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.339452	0.20817	N	0.085123	D	0.86289	0.5897	N	0.21324	0.655	0.80722	D	1	B;B	0.20368	0.027;0.044	B;B	0.18561	0.019;0.022	T	0.77300	-0.2639	10	0.36615	T	0.2	.	8.7741	0.34751	0.8912:0.0:0.1088:0.0	.	1606;3904	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	R	3904	ENSP00000411096:K3904R	ENSP00000411096:K3904R	K	+	2	0	ABCA13	48402120	0.928000	0.31464	0.908000	0.35775	0.519000	0.34347	-0.046000	0.11983	0.325000	0.23359	0.383000	0.25322	AAG	ABCA13	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.527	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	-	0.00	77	0	A	NM_152701		48431574	+1	tier1	-	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.997	G
ABCC12	94160	genome.wustl.edu	37	16	48119527	48119527	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:48119527G>A	ENST00000311303.3	-	27	4150	c.3805C>T	c.(3805-3807)Cga>Tga	p.R1269*	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1269	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.R1269*(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGAAGAGCTCGGGCCACACAA	0.443																																																	1	Substitution - Nonsense(1)	large_intestine(1)											164.0	162.0	162.0					16																	48119527		2201	4300	6501	SO:0001587	stop_gained	0			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3805C>T	16.37:g.48119527G>A	ENSP00000311030:p.Arg1269*		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.R1269*	ENST00000311303.3	37	c.3805	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.954805	0.99621	.	.	ENSG00000140798	ENST00000311303	.	.	.	5.59	3.51	0.40186	.	0.136740	0.51477	D	0.000096	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4151	0.21712	0.094:0.0:0.5717:0.3343	.	.	.	.	X	1269	.	ENSP00000311030:R1269X	R	-	1	2	ABCC12	46677028	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.921000	0.40035	1.369000	0.46134	-0.137000	0.14449	CGA	ABCC12	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000140798		0.443	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	-	0.00	54	0	G	NM_033226		48119527	-1	tier1	-	no_errors	ENST00000311303	ensembl	human	known	74_37	nonsense	20.59	54	14	SNP	1.000	A
ABHD12B	145447	genome.wustl.edu	37	14	51345478	51345478	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:51345478T>C	ENST00000337334.2	+	3	263	c.248T>C	c.(247-249)cTt>cCt	p.L83P	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_5'UTR|ABHD12B_ENST00000554241.1_Intron|ABHD12B_ENST00000353130.1_Intron	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	83							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCCCCATTTCTTGTGGATTTA	0.398																																																	0													88.0	80.0	82.0					14																	51345478		692	1591	2283	SO:0001583	missense	0			BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.248T>C	14.37:g.51345478T>C	ENSP00000336693:p.Leu83Pro		Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.L83P	ENST00000337334.2	37	c.248	CCDS55916.1	14	.	.	.	.	.	.	.	.	.	.	T	16.35	3.098539	0.56183	.	.	ENSG00000131969	ENST00000337334	T	0.23348	1.91	5.6	5.6	0.85130	.	0.423379	0.26156	N	0.026005	T	0.40015	0.1100	M	0.65975	2.015	0.58432	D	0.999998	D	0.64830	0.994	P	0.58331	0.837	T	0.18650	-1.0330	10	0.33141	T	0.24	-14.6503	8.5811	0.33630	0.0:0.0856:0.0:0.9144	.	83	Q7Z5M8	AB12B_HUMAN	P	83	ENSP00000336693:L83P	ENSP00000336693:L83P	L	+	2	0	ABHD12B	50415228	1.000000	0.71417	0.928000	0.36995	0.997000	0.91878	4.323000	0.59221	2.271000	0.75665	0.533000	0.62120	CTT	ABHD12B	-	NULL	ENSG00000131969		0.398	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABHD12B	HGNC	protein_coding	OTTHUMT00000411030.1	-	0.00	59	0	T			51345478	+1	tier1	-	no_errors	ENST00000337334	ensembl	human	known	74_37	missense	10.53	51	6	SNP	0.997	C
ABHD6	57406	genome.wustl.edu	37	3	58270864	58270864	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:58270864A>C	ENST00000478253.1	+	8	1235	c.734A>C	c.(733-735)aAg>aCg	p.K245T	ABHD6_ENST00000295962.4_Missense_Mutation_p.K245T			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	245					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		TTCTACCGAAAGTGTAAGTAG	0.413																																																	0													120.0	104.0	110.0					3																	58270864		2203	4300	6503	SO:0001583	missense	0			AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.734A>C	3.37:g.58270864A>C	ENSP00000420315:p.Lys245Thr		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like	p.K245T	ENST00000478253.1	37	c.734	CCDS2887.1	3	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632283	0.67015	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761	T;T	0.67345	-0.26;-0.26	5.66	4.52	0.55395	.	0.135928	0.64402	D	0.000002	T	0.70316	0.3210	M	0.71036	2.16	0.38900	D	0.957293	P;P	0.44521	0.837;0.763	P;B	0.51582	0.674;0.288	T	0.68157	-0.5483	10	0.22706	T	0.39	-2.018	8.3386	0.32230	0.8482:0.0:0.1518:0.0	.	245;245	Q9BV23;F5H7L1	ABHD6_HUMAN;.	T	245	ENSP00000420315:K245T;ENSP00000295962:K245T	ENSP00000295962:K245T	K	+	2	0	ABHD6	58245904	0.997000	0.39634	0.601000	0.28877	0.925000	0.55904	3.311000	0.51919	0.992000	0.38840	0.533000	0.62120	AAG	ABHD6	-	pfam_Ndr	ENSG00000163686		0.413	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD6	HGNC	protein_coding	OTTHUMT00000353511.1	-	0.00	102	0	A	NM_020676		58270864	+1	tier1	-	no_errors	ENST00000295962	ensembl	human	known	74_37	missense	20.25	63	16	SNP	0.815	C
ADAM18	8749	genome.wustl.edu	37	8	39496040	39496040	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:39496040A>T	ENST00000265707.5	+	10	929	c.884A>T	c.(883-885)aAa>aTa	p.K295I	ADAM18_ENST00000379866.1_Missense_Mutation_p.K271I|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GTATGCAATAAAAGCTATGAT	0.269																																																	0													108.0	106.0	107.0					8																	39496040		2203	4295	6498	SO:0001583	missense	0			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.884A>T	8.37:g.39496040A>T	ENSP00000265707:p.Lys295Ile		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.K295I	ENST00000265707.5	37	c.884	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	A	6.162	0.398041	0.11696	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.09538	2.97;2.97	5.51	4.36	0.52297	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.939591	0.08870	N	0.881728	T	0.12603	0.0306	L	0.45352	1.415	0.25432	N	0.988178	B;B	0.17465	0.018;0.022	B;B	0.27076	0.046;0.076	T	0.29427	-1.0012	10	0.49607	T	0.09	.	8.1243	0.30988	0.9113:0.0:0.0887:0.0	.	271;295	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	I	295;271;227	ENSP00000265707:K295I;ENSP00000369195:K271I	ENSP00000265707:K295I	K	+	2	0	ADAM18	39615197	0.135000	0.22499	0.001000	0.08648	0.003000	0.03518	1.121000	0.31283	1.118000	0.41863	0.529000	0.55759	AAA	ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000168619		0.269	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	-	0.00	85	0	A	NM_014237		39496040	+1	tier1	-	no_errors	ENST00000265707	ensembl	human	known	74_37	missense	16.95	49	10	SNP	0.004	T
ADAM2	2515	genome.wustl.edu	37	8	39645738	39645738	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:39645738C>T	ENST00000265708.4	-	9	778	c.675G>A	c.(673-675)ctG>ctA	p.L225L	ADAM2_ENST00000521880.1_Silent_p.L225L|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000347580.4_Silent_p.L206L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	225	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCAATGAAGACAGAATAATTG	0.264																																																	0													58.0	62.0	60.0					8																	39645738		2201	4286	6487	SO:0001819	synonymous_variant	0			U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.675G>A	8.37:g.39645738C>T			P78326|Q9UQQ8	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.L225	ENST00000265708.4	37	c.675	CCDS34884.1	8																																																																																			ADAM2	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000104755		0.264	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM2	HGNC	protein_coding	OTTHUMT00000376926.1	-	0.00	35	0	C	NM_001464		39645738	-1	tier1	-	no_errors	ENST00000265708	ensembl	human	known	74_37	silent	16.22	31	6	SNP	0.428	T
AHNAK	79026	genome.wustl.edu	37	11	62299594	62299594	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:62299594C>T	ENST00000378024.4	-	5	2569	c.2295G>A	c.(2293-2295)gaG>gaA	p.E765E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	765					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.512																																																	0													161.0	166.0	164.0					11																	62299594		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.2295G>A	11.37:g.62299594C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E765	ENST00000378024.4	37	c.2295	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.512	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	-	0.00	183	0	C	NM_024060		62299594	-1	tier1	-	no_errors	ENST00000378024	ensembl	human	known	74_37	silent	27.37	130	49	SNP	0.999	T
ANKRD12	23253	genome.wustl.edu	37	18	9279564	9279564	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:9279564T>G	ENST00000262126.4	+	12	6165	c.5925T>G	c.(5923-5925)acT>acG	p.T1975T	ANKRD12_ENST00000383440.2_Silent_p.T1952T|snoU13_ENST00000459594.1_RNA|ANKRD12_ENST00000400020.3_Silent_p.T1952T	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1975						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ACAGTAAAACTTCTGTGAGGG	0.294																																																	0													102.0	111.0	108.0					18																	9279564		2203	4298	6501	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5925T>G	18.37:g.9279564T>G			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.T1975	ENST00000262126.4	37	c.5925	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.294	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0.00	80	0	T	NM_015208		9279564	+1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	6.25	75	5	SNP	1.000	G
ANKS3	124401	genome.wustl.edu	37	16	4751504	4751504	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:4751504G>A	ENST00000304283.4	-	10	1344	c.1050C>T	c.(1048-1050)agC>agT	p.S350S	ANKS3_ENST00000446014.2_Silent_p.S221S|ANKS3_ENST00000450067.2_Silent_p.S144S|ANKS3_ENST00000585773.1_Silent_p.S277S	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	350	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TGCTGCTGCTGCTCTGGACGG	0.637																																																	0													40.0	38.0	39.0					16																	4751504		2197	4300	6497	SO:0001819	synonymous_variant	0			AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1050C>T	16.37:g.4751504G>A			B4DWU4|D3DUE2|Q8TF25	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.S350	ENST00000304283.4	37	c.1050	CCDS10520.1	16																																																																																			ANKS3	-	NULL	ENSG00000168096		0.637	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKS3	HGNC	protein_coding	OTTHUMT00000251642.3	-	0.00	55	0	G	NM_133450		4751504	-1	tier1	-	no_errors	ENST00000304283	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	A
APOB	338	genome.wustl.edu	37	2	21225692	21225692	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:21225692C>A	ENST00000233242.1	-	29	12729	c.12602G>T	c.(12601-12603)aGa>aTa	p.R4201I	RP11-116D2.1_ENST00000567376.2_lincRNA	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4201					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACTGGAATCTGGGGAAGTT	0.433																																																	0													50.0	52.0	51.0					2																	21225692		2203	4300	6503	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.12602G>T	2.37:g.21225692C>A	ENSP00000233242:p.Arg4201Ile		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R4201I	ENST00000233242.1	37	c.12602	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542072	0.27563	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01076	5.37	5.99	1.1	0.20463	.	0.405903	0.23457	N	0.047973	T	0.01627	0.0052	L	0.46157	1.445	0.36246	D	0.853585	P	0.50272	0.933	P	0.45577	0.486	T	0.61608	-0.7028	10	0.87932	D	0	.	6.7947	0.23719	0.0:0.5483:0.1176:0.3341	.	4201	P04114	APOB_HUMAN	I	4201	ENSP00000233242:R4201I	ENSP00000233242:R4201I	R	-	2	0	APOB	21079197	0.930000	0.31532	0.361000	0.25849	0.078000	0.17371	0.163000	0.16520	0.122000	0.18314	-0.136000	0.14681	AGA	APOB	-	NULL	ENSG00000084674		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	18	0	C			21225692	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.331	A
ARHGAP31	57514	genome.wustl.edu	37	3	119133553	119133553	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:119133553C>T	ENST00000264245.4	+	12	3309	c.2777C>T	c.(2776-2778)gCg>gTg	p.A926V		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	926					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						CTGAAAGACGCGCACAAGGCC	0.602																																					Pancreas(7;176 297 5394 51128 51241)												0																																										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.2777C>T	3.37:g.119133553C>T	ENSP00000264245:p.Ala926Val		Q9ULL6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.A926V	ENST00000264245.4	37	c.2777	CCDS43135.1	3	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.100054	0.00360	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.04654	3.58	4.87	0.668	0.17912	.	0.935480	0.08872	N	0.881446	T	0.01592	0.0051	N	0.01576	-0.805	0.20926	N	0.999825	B	0.02656	0.0	B	0.01281	0.0	T	0.45338	-0.9268	10	0.02654	T	1	.	7.028	0.24950	0.0:0.0774:0.3035:0.6191	.	926	Q2M1Z3	RHG31_HUMAN	V	926	ENSP00000264245:A926V	ENSP00000264245:A926V	A	+	2	0	ARHGAP31	120616243	0.002000	0.14202	0.051000	0.19133	0.112000	0.19704	0.404000	0.20999	0.010000	0.14839	-1.157000	0.01802	GCG	ARHGAP31	-	NULL	ENSG00000031081		0.602	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP31	HGNC	protein_coding	OTTHUMT00000354942.2	-	0.00	35	0	C			119133553	+1	tier1	-	no_errors	ENST00000264245	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.890	T
ARSK	153642	genome.wustl.edu	37	5	94918845	94918845	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:94918845T>G	ENST00000380009.4	+	4	847	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	214					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CTTCACCATCTTCTGGAGAAA	0.323																																																	0													82.0	83.0	83.0					5																	94918845		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.642T>G	5.37:g.94918845T>G			A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Silent	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.S214	ENST00000380009.4	37	c.642	CCDS4073.1	5																																																																																			ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	ENSG00000164291		0.323	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	-	0.00	64	0	T	NM_198150		94918845	+1	tier1	-	no_errors	ENST00000380009	ensembl	human	known	74_37	silent	9.38	58	6	SNP	0.988	G
ATP1A2	477	genome.wustl.edu	37	1	160105239	160105239	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:160105239G>A	ENST00000361216.3	+	16	2220	c.2131G>A	c.(2131-2133)Gtg>Atg	p.V711M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.V711M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	711					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATTGTGGCCGTGACGGGTGA	0.602																																																	0													150.0	111.0	124.0					1																	160105239		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2131G>A	1.37:g.160105239G>A	ENSP00000354490:p.Val711Met		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.V711M	ENST00000361216.3	37	c.2131	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525318	0.85600	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.93488	-3.23;-3.23	4.31	4.31	0.51392	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.92179	0.7520	N	0.16743	0.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	D	0.94202	0.7451	10	0.87932	D	0	.	16.0832	0.81020	0.0:0.0:1.0:0.0	.	611;711	F5GXJ7;P50993	.;AT1A2_HUMAN	M	711;711;414	ENSP00000354490:V711M;ENSP00000376066:V711M	ENSP00000354490:V711M	V	+	1	0	ATP1A2	158371863	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	9.567000	0.98161	2.383000	0.81215	0.561000	0.74099	GTG	ATP1A2	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000018625		0.602	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	-	0.00	88	0	G	NM_000702		160105239	+1	tier1	-	no_errors	ENST00000361216	ensembl	human	known	74_37	missense	45.88	46	39	SNP	1.000	A
ATR	545	genome.wustl.edu	37	3	142272730	142272730	+	Silent	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:142272730A>C	ENST00000350721.4	-	11	2590	c.2469T>G	c.(2467-2469)gcT>gcG	p.A823A	ATR_ENST00000383101.3_Silent_p.A759A	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	823					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCCACTAAAAGCCACTCTAA	0.318								Other conserved DNA damage response genes																																									0													72.0	75.0	74.0					3																	142272730		2202	4299	6501	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2469T>G	3.37:g.142272730A>C			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.A823	ENST00000350721.4	37	c.2469	CCDS3124.1	3																																																																																			ATR	-	superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000175054		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	-	0.00	47	0	A	NM_001184		142272730	-1	tier1	-	no_errors	ENST00000350721	ensembl	human	known	74_37	silent	12.07	51	7	SNP	1.000	C
C10orf71	118461	genome.wustl.edu	37	10	50531190	50531190	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:50531190T>C	ENST00000374144.3	+	3	888	c.600T>C	c.(598-600)gcT>gcC	p.A200A	C10orf71_ENST00000323868.4_Silent_p.A200A			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	200										endometrium(1)	1						GGGTGCCCGCTGAAGTTTCCA	0.532																																																	0													38.0	39.0	39.0					10																	50531190		1981	4154	6135	SO:0001819	synonymous_variant	0			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.600T>C	10.37:g.50531190T>C			A0AVL8	Silent	SNP	NULL	p.A200	ENST00000374144.3	37	c.600	CCDS44387.1	10																																																																																			C10orf71	-	NULL	ENSG00000177354		0.532	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	HGNC	protein_coding	OTTHUMT00000047984.2		0.00	47	0	T	NM_199459		50531190	+1			no_errors	ENST00000374144	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.957	C
C10orf88	80007	genome.wustl.edu	37	10	124697275	124697275	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:124697275T>C	ENST00000481909.1	-	5	1273	c.1049A>G	c.(1048-1050)aAg>aGg	p.K350R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	350										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		ACACTCGGTCTTATTTCCCAC	0.398																																																	0													126.0	125.0	125.0					10																	124697275		2203	4298	6501	SO:0001583	missense	0			AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.1049A>G	10.37:g.124697275T>C	ENSP00000419126:p.Lys350Arg		Q0P6C6|Q8N597	Missense_Mutation	SNP	NULL	p.K350R	ENST00000481909.1	37	c.1049	CCDS7632.1	10	.	.	.	.	.	.	.	.	.	.	T	12.12	1.842772	0.32606	.	.	ENSG00000119965	ENST00000481909	.	.	.	4.01	-5.98	0.02220	.	0.927497	0.09035	U	0.858218	T	0.11024	0.0269	N	0.14661	0.345	0.09310	N	1	P	0.37276	0.589	B	0.26864	0.074	T	0.23440	-1.0188	9	0.17832	T	0.49	.	7.8995	0.29725	0.0:0.4981:0.269:0.2329	.	350	Q9H8K7	CJ088_HUMAN	R	350	.	ENSP00000419126:K350R	K	-	2	0	C10orf88	124687265	0.000000	0.05858	0.000000	0.03702	0.856000	0.48823	-0.455000	0.06762	-1.561000	0.01684	0.260000	0.18958	AAG	C10orf88	-	NULL	ENSG00000119965		0.398	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf88	HGNC	protein_coding	OTTHUMT00000050807.1	-	0.00	51	0	T	NM_024942		124697275	-1	tier1	-	no_errors	ENST00000481909	ensembl	human	known	74_37	missense	12.31	57	8	SNP	0.000	C
CFAP54	144535	genome.wustl.edu	37	12	97180615	97180615	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:97180615T>G	ENST00000524981.4	+	62	8641	c.8618T>G	c.(8617-8619)cTt>cGt	p.L2873R				Q96N23	CL055_HUMAN		0																	CCAAAAGAACTTCTTTGTCAA	0.323																																																	0																																										SO:0001583	missense	0																														ENST00000524981.4:c.8618T>G	12.37:g.97180615T>G	ENSP00000431759:p.Leu2873Arg			Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.L2873R	ENST00000524981.4	37	c.8618		12	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594934	0.46318	.	.	ENSG00000188596	ENST00000524981	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	T	0.73024	0.3534	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75628	-0.3252	5	0.62326	D	0.03	.	12.7654	0.57388	0.0:0.0:0.0:1.0	.	.	.	.	R	2873	.	ENSP00000431759:L2873R	L	+	2	0	C12orf63	95704746	0.950000	0.32346	0.969000	0.41365	0.024000	0.10985	4.070000	0.57548	2.273000	0.75805	0.482000	0.46254	CTT	C12orf55	-	NULL	ENSG00000188596		0.323	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	-	0.00	86	0	T			97180615	+1	tier1	-	no_errors	ENST00000524981	ensembl	human	putative	74_37	missense	39.71	41	27	SNP	0.995	G
C16orf89	146556	genome.wustl.edu	37	16	5112546	5112546	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:5112546C>T	ENST00000315997.5	-	2	439	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	C16orf89_ENST00000350219.4_Missense_Mutation_p.A118T|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000474471.3_Missense_Mutation_p.A80T|C16orf89_ENST00000422873.1_Missense_Mutation_p.A118T|C16orf89_ENST00000472572.3_Missense_Mutation_p.A80T	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	80						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGCTCCTGGGCCCACTTCTCC	0.547																																																	0													46.0	50.0	49.0					16																	5112546		1889	4124	6013	SO:0001583	missense	0				CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.238G>A	16.37:g.5112546C>T	ENSP00000324672:p.Ala80Thr		B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	NULL	p.A118T	ENST00000315997.5	37	c.352	CCDS42116.2	16	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981243	0.53827	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	4.98	4.98	0.66077	.	0.232339	0.35970	N	0.002873	T	0.50463	0.1617	M	0.72118	2.19	0.35037	D	0.759354	D;D	0.60575	0.979;0.988	P;P	0.57960	0.681;0.83	T	0.57940	-0.7724	10	0.16420	T	0.52	-21.5695	13.7463	0.62876	0.0:1.0:0.0:0.0	.	80;118	Q6UX73;G3V0F0	CP089_HUMAN;.	T	80;80;80;118;118;80	ENSP00000417158:A80T;ENSP00000420566:A80T;ENSP00000390402:A118T;ENSP00000283478:A118T;ENSP00000324672:A80T	ENSP00000324672:A80T	A	-	1	0	C16orf89	5052547	0.998000	0.40836	0.926000	0.36857	0.055000	0.15305	3.639000	0.54339	2.320000	0.78422	0.462000	0.41574	GCC	C16orf89	-	NULL	ENSG00000153446		0.547	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	C16orf89	HGNC	protein_coding	OTTHUMT00000354524.1		0.00	34	0	C	NM_152459		5112546	-1			no_errors	ENST00000350219	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.974	T
CACNA1A	773	genome.wustl.edu	37	19	13414639	13414639	+	Silent	SNP	G	G	A	rs535077726		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:13414639G>A	ENST00000360228.5	-	16	2045	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	CACNA1A_ENST00000573710.2_Silent_p.G683G	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	683					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGCCCTGCACGCCCCCCTGAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		14364	0.001		0.0	False		,,,				2504	0.0																0													172.0	177.0	175.0					19																	13414639		2026	4179	6205	SO:0001819	synonymous_variant	0			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2046C>T	19.37:g.13414639G>A			J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.G682	ENST00000360228.5	37	c.2046	CCDS45998.1	19																																																																																			CACNA1A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000141837		0.557	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1A	HGNC	protein_coding	OTTHUMT00000104062.2	-	0.00	40	0	G	NM_000068		13414639	-1	tier1	-	no_errors	ENST00000360228	ensembl	human	known	74_37	silent	17.02	39	8	SNP	0.951	A
CAPS2	84698	genome.wustl.edu	37	12	75716828	75716828	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:75716828G>T	ENST00000409445.3	-	5	470	c.274C>A	c.(274-276)Cca>Aca	p.P92T	CAPS2_ENST00000393284.3_5'UTR|CAPS2_ENST00000409799.1_Intron|CAPS2_ENST00000442339.2_Intron	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	92							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GATGAATTTGGCAGGTTTGCT	0.284																																																	0													39.0	35.0	36.0					12																	75716828		692	1586	2278	SO:0001583	missense	0			AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.274C>A	12.37:g.75716828G>T	ENSP00000386959:p.Pro92Thr		Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.P92T	ENST00000409445.3	37	c.274	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	G	1.931	-0.446013	0.04604	.	.	ENSG00000180881	ENST00000409445	T	0.48201	0.82	3.33	1.37	0.22104	.	0.254999	0.28031	N	0.016875	T	0.29158	0.0725	N	0.24115	0.695	0.20074	N	0.999938	B	0.15719	0.014	B	0.12156	0.007	T	0.19679	-1.0298	10	0.66056	D	0.02	-2.7667	5.9972	0.19501	0.1171:0.1952:0.6878:0.0	.	92	Q9BXY5	CAYP2_HUMAN	T	92	ENSP00000386959:P92T	ENSP00000386959:P92T	P	-	1	0	CAPS2	74003095	0.324000	0.24652	0.006000	0.13384	0.050000	0.14768	0.276000	0.18716	0.191000	0.20236	0.561000	0.74099	CCA	CAPS2	-	NULL	ENSG00000180881		0.284	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000327880.2	-	0.00	70	0	G			75716828	-1	tier1	-	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.201	T
CASP5	838	genome.wustl.edu	37	11	104878041	104878041	+	Frame_Shift_Del	DEL	T	T	-	rs144697764		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:104878041delT	ENST00000260315.3	-	3	201	c.202delA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000393139.2_Frame_Shift_Del_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000444749.2_Frame_Shift_Del_p.T10fs|CASP5_ENST00000393141.2_Frame_Shift_Del_p.T81fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.T81fs|CASP5_ENST00000531367.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ATCTTAACTGTTTTTTTTTTG	0.358																																																	1	Deletion - Frameshift(1)	ovary(1)							,,,	386,251,42,3585		1,0,1,383,0,0,251,0,41,1455	104.0	101.0	102.0		,,,	-2.3	0.0	11	dbSNP_132	106	651,407,1,7195		0,0,0,651,0,0,407,0,1,3068	no	codingComplex,codingComplex,intron,codingComplex	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	1,0,1,1034,0,0,658,0,42,4523	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		12.8301,15.924,13.884	,,,	,,,	104878041	1037,658,43,10780	2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.202delA	11.37:g.104878041delT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core	p.T81fs	ENST00000260315.3	37	c.241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD	ENSG00000137757		0.358	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0.00	33	0	T	NM_004347		104878041	-1	tier1		no_errors	ENST00000393141	ensembl	human	known	74_37	frame_shift_del	8.11	34	3	DEL	0.000	-
CCDC88A	55704	genome.wustl.edu	37	2	55563842	55563842	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:55563842G>T	ENST00000436346.1	-	14	2472	c.1631C>A	c.(1630-1632)aCa>aAa	p.T544K	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T544K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T544K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T544K|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	544					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTCTCAGTGTTTCTATTGT	0.279																																																	0													75.0	78.0	77.0					2																	55563842		2201	4296	6497	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1631C>A	2.37:g.55563842G>T	ENSP00000410608:p.Thr544Lys		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.T544K	ENST00000436346.1	37	c.1631		2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376391	0.82682	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.19	5.19	0.71726	.	0.000000	0.49305	U	0.000146	T	0.28333	0.0700	M	0.73962	2.25	0.80722	D	1	P;P;P	0.50528	0.936;0.675;0.554	P;B;B	0.51550	0.673;0.202;0.154	T	0.06006	-1.0851	10	0.16896	T	0.51	-12.5077	18.7035	0.91629	0.0:0.0:1.0:0.0	.	544;544;544	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	K	544	ENSP00000338728:T544K;ENSP00000263630:T544K;ENSP00000410608:T544K;ENSP00000404431:T544K	ENSP00000263630:T544K	T	-	2	0	CCDC88A	55417346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.583000	0.82559	2.426000	0.82243	0.585000	0.79938	ACA	CCDC88A	-	pfam_Hook-related_fam	ENSG00000115355		0.279	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0.00	39	0	G	NM_017571		55563842	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
CCDC74B	91409	genome.wustl.edu	37	2	130900636	130900636	+	Intron	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:130900636T>C	ENST00000310463.6	-	2	433				CCDC74B_ENST00000409128.1_Intron|CCDC74B_ENST00000409234.3_Silent_p.G167G|CCDC74B_ENST00000409943.3_Intron|CCDC74B_ENST00000392984.3_5'UTR	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B											endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GCCCTGGGCTTCCTGAGAGCA	0.622																																																	0																																										SO:0001627	intron_variant	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.295+205A>G	2.37:g.130900636T>C			Q6NW18	Silent	SNP	NULL	p.G167	ENST00000310463.6	37	c.501	CCDS2155.1	2																																																																																			CCDC74B	-	NULL	ENSG00000152076		0.622	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	-	0.00	100	0	T	NM_207310		130900636	-1	tier1	-	no_errors	ENST00000409234	ensembl	human	putative	74_37	silent	11.90	74	10	SNP	0.000	C
CD1C	911	genome.wustl.edu	37	1	158261944	158261944	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:158261944G>T	ENST00000368170.3	+	3	678	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	133					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GCTTCTTTCAGGTAGCTTTCA	0.473																																																	0													112.0	118.0	116.0					1																	158261944		2203	4300	6503	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.399G>T	1.37:g.158261944G>T	ENSP00000357152:p.Gln133His		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.Q133H	ENST00000368170.3	37	c.399	CCDS1175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	2.654|2.654	-0.281190|-0.281190	0.05642|0.05642	.|.	.|.	ENSG00000158481|ENSG00000158481	ENST00000443761|ENST00000368169;ENST00000368170	.|T	.|0.08634	.|3.07	3.92|3.92	-2.27|-2.27	0.06846|0.06846	.|MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|1.251230	.|0.05986	.|N	.|0.645212	T|T	0.01061|0.01061	0.0035|0.0035	N|N	0.11154|0.11154	0.105|0.105	0.09310|0.09310	N|N	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.04013	.|0.001	T|T	0.48525|0.48525	-0.9028|-0.9028	5|10	.|0.27082	.|T	.|0.32	.|.	4.1242|4.1242	0.10119|0.10119	0.2045:0.0:0.2814:0.5141|0.2045:0.0:0.2814:0.5141	.|.	.|133	.|P29017	.|CD1C_HUMAN	C|H	68|133	.|ENSP00000357152:Q133H	.|ENSP00000357151:Q133H	G|Q	+|+	1|3	0|2	CD1C|CD1C	156528568|156528568	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-0.990000|-0.990000	0.03732|0.03732	-0.532000|-0.532000	0.06332|0.06332	0.644000|0.644000	0.83932|0.83932	GGT|CAG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.473	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0.00	47	0	G	NM_001765		158261944	+1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.000	T
CHD1	1105	genome.wustl.edu	37	5	98217809	98217809	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:98217809C>T	ENST00000284049.3	-	19	2886	c.2737G>A	c.(2737-2739)Gtt>Att	p.V913I		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	913	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCCTTTGTAACTAGACGATAA	0.358																																																	0													87.0	80.0	82.0					5																	98217809		2203	4300	6503	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.2737G>A	5.37:g.98217809C>T	ENSP00000284049:p.Val913Ile		Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V913I	ENST00000284049.3	37	c.2737	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982092	0.93044	.	.	ENSG00000153922	ENST00000284049	T	0.76060	-0.99	4.97	4.97	0.65823	Helicase, C-terminal (1);	0.000000	0.30639	U	0.009192	T	0.76842	0.4044	N	0.16790	0.44	0.80722	D	1	D	0.65815	0.995	D	0.64410	0.925	T	0.81433	-0.0935	10	0.87932	D	0	.	18.5968	0.91231	0.0:1.0:0.0:0.0	.	913	O14646	CHD1_HUMAN	I	913	ENSP00000284049:V913I	ENSP00000284049:V913I	V	-	1	0	CHD1	98245709	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.818000	0.86416	2.480000	0.83734	0.585000	0.79938	GTT	CHD1	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000153922		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	-	0.00	49	0	C	NM_001270		98217809	-1	tier1	-	no_errors	ENST00000284049	ensembl	human	known	74_37	missense	10.53	51	6	SNP	1.000	T
CHD3	1107	genome.wustl.edu	37	17	7798284	7798284	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7798284A>G	ENST00000330494.7	+	9	1469	c.1319A>G	c.(1318-1320)gAa>gGa	p.E440G	CHD3_ENST00000380358.4_Missense_Mutation_p.E499G|CHD3_ENST00000358181.4_Missense_Mutation_p.E440G	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	440	Poly-Glu.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				gaagaatacgaagaggaggga	0.557																																																	0													82.0	67.0	72.0					17																	7798284		2203	4300	6503	SO:0001583	missense	0			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1319A>G	17.37:g.7798284A>G	ENSP00000332628:p.Glu440Gly		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E440G	ENST00000330494.7	37	c.1319	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	A	11.39	1.624314	0.28889	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.41065	1.01;1.01;1.01	5.15	5.15	0.70609	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, FYVE/PHD-type (1);	0.356329	0.20383	N	0.093407	T	0.33381	0.0861	N	0.08118	0	0.47476	D	0.999434	D;P;D	0.57257	0.969;0.948;0.979	P;P;P	0.50934	0.654;0.452;0.628	T	0.32981	-0.9886	10	0.66056	D	0.02	-19.1783	12.5825	0.56397	1.0:0.0:0.0:0.0	.	440;440;499	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	G	499;440;440	ENSP00000369716:E499G;ENSP00000350907:E440G;ENSP00000332628:E440G	ENSP00000332628:E440G	E	+	2	0	CHD3	7739009	1.000000	0.71417	0.995000	0.50966	0.541000	0.35023	5.501000	0.66950	2.168000	0.68352	0.459000	0.35465	GAA	CHD3	-	superfamily_Znf_FYVE_PHD	ENSG00000170004		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	-	0.00	62	0	A	NM_001005273		7798284	+1	tier1	-	no_errors	ENST00000330494	ensembl	human	known	74_37	missense	14.81	69	12	SNP	1.000	G
CHL1	10752	genome.wustl.edu	37	3	404935	404935	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:404935G>A	ENST00000256509.2	+	14	2096	c.1454G>A	c.(1453-1455)aGg>aAg	p.R485K	CHL1_ENST00000397491.2_Missense_Mutation_p.R469K|CHL1-AS1_ENST00000417612.1_RNA|CHL1-AS1_ENST00000608098.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAGGGCAGGCGGTATCAT	0.428																																																	0													112.0	103.0	106.0					3																	404935		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1454G>A	3.37:g.404935G>A	ENSP00000256509:p.Arg485Lys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R485K	ENST00000256509.2	37	c.1454	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523856	0.44866	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.26957	1.7;1.7	5.11	0.579	0.17397	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.068410	0.07096	N	0.839518	T	0.15998	0.0385	N	0.25031	0.7	0.09310	N	1	B;B;B	0.17465	0.022;0.022;0.004	B;B;B	0.30943	0.122;0.122;0.026	T	0.40739	-0.9547	10	0.25751	T	0.34	.	1.0466	0.01571	0.2766:0.2005:0.3806:0.1424	.	469;469;485	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	K	485;469	ENSP00000256509:R485K;ENSP00000380628:R469K	ENSP00000256509:R485K	R	+	2	0	CHL1	379935	0.000000	0.05858	0.001000	0.08648	0.657000	0.38888	-0.345000	0.07770	0.229000	0.21039	0.650000	0.86243	AGG	CHL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134121		0.428	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0.00	62	0	G	NM_006614		404935	+1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.000	A
CHST1	8534	genome.wustl.edu	37	11	45671102	45671102	+	3'UTR	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:45671102A>G	ENST00000308064.2	-	0	2042				RP11-495O11.1_ENST00000525563.1_RNA|CHST1_ENST00000533673.1_5'UTR	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1						carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGCAGAAGGGAGTGGGGTGAG	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.*136T>C	11.37:g.45671102A>G			D3DQP2	RNA	SNP	-	NULL	ENST00000308064.2	37	NULL	CCDS7913.1	11																																																																																			CHST1	-	-	ENSG00000175264		0.562	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	HGNC	protein_coding	OTTHUMT00000390127.1	-	0.00	88	0	A	NM_003654		45671102	-1	tier1	-	no_errors	ENST00000533673	ensembl	human	known	74_37	rna	7.61	85	7	SNP	0.000	G
CHTF8	54921	genome.wustl.edu	37	16	69154483	69154483	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:69154483C>A	ENST00000448552.2	-	4	332	c.211G>T	c.(211-213)Gca>Tca	p.A71S	CHTF8_ENST00000520529.1_3'UTR|CHTF8_ENST00000398235.2_Missense_Mutation_p.A71S|CHTF8_ENST00000574807.1_5'Flank|CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000306585.6_5'UTR|CHTF8_ENST00000522091.1_3'UTR|CHTF8_ENST00000519520.1_3'UTR	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)	71					cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										ACAAGGACTGCAAAAGGTTTC	0.517																																																	0													120.0	121.0	120.0					16																	69154483		1961	4152	6113	SO:0001583	missense	0				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.211G>T	16.37:g.69154483C>A	ENSP00000408367:p.Ala71Ser		A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	pfam_Chromosome_trans_fidel_Ctf8	p.A71S	ENST00000448552.2	37	c.211	CCDS42185.1	16	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.945545|3.945545|3.945545	0.73672|0.73672|0.73672	.|.|.	.|.|.	ENSG00000168802|ENSG00000168802|ENSG00000168802	ENST00000448552;ENST00000398235|ENST00000522497|ENST00000519520;ENST00000520529	.|.|.	.|.|.	.|.|.	5.1|5.1|5.1	5.1|5.1|5.1	0.69264|0.69264|0.69264	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	D|D|D	0.83908|0.83908|0.83908	0.5356|0.5356|0.5356	M|M|M	0.87758|0.87758|0.87758	2.905|2.905|2.905	0.80722|0.80722|0.80722	D|D|D	1|1|1	D|.|.	0.76494|.|.	0.999|.|.	D|.|.	0.70487|.|.	0.969|.|.	D|D|D	0.86962|0.86962|0.86962	0.2092|0.2092|0.2092	8|5|6	0.51188|.|0.87932	T|.|D	0.08|.|0	.|.|.	18.4902|18.4902|18.4902	0.90844|0.90844|0.90844	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	71|.|.	P0CG13|.|.	CTF8_HUMAN|.|.	S|F|F	71|93|11	.|.|.	ENSP00000381290:A71S|.|ENSP00000427718:L11F	A|C|L	-|-|-	1|2|3	0|0|2	CHTF8|CHTF8|CHTF8	67711984|67711984|67711984	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.947000|0.947000|0.947000	0.59692|0.59692|0.59692	7.113000|7.113000|7.113000	0.77095|0.77095|0.77095	2.537000|2.537000|2.537000	0.85549|0.85549|0.85549	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|TGC|TTG	CHTF8	-	pfam_Chromosome_trans_fidel_Ctf8	ENSG00000168802		0.517	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF8	HGNC	protein_coding	OTTHUMT00000376352.2	-	0.00	57	0	C	NM_017804		69154483	-1	tier1	-	no_errors	ENST00000398235	ensembl	human	known	74_37	missense	10.87	41	5	SNP	1.000	A
CIB2	10518	genome.wustl.edu	37	15	78401611	78401611	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:78401611T>C	ENST00000258930.3	-	4	640	c.312A>G	c.(310-312)cgA>cgG	p.R104R	CIB2_ENST00000557846.1_Silent_p.R55R|CIB2_ENST00000560618.1_Silent_p.R61R|CIB2_ENST00000539011.1_Silent_p.R61R	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	104	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion homeostasis (GO:0055074)|photoreceptor cell maintenance (GO:0045494)	blood microparticle (GO:0072562)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|photoreceptor inner segment (GO:0001917)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CCTTGAGCTCTCGGGGAGCCG	0.557																																																	0													95.0	83.0	87.0					15																	78401611		2196	4293	6489	SO:0001819	synonymous_variant	0			BC047381	CCDS10296.1, CCDS61722.1, CCDS61723.1	15q24	2013-01-10			ENSG00000136425	ENSG00000136425		"""EF-hand domain containing"""	24579	protein-coding gene	gene with protein product		605564	"""deafness, autosomal recessive 48"", ""Usher syndrome 1J (autosomal recessive)"""	DFNB48, USH1J		9931475, 23023331	Standard	NM_006383		Approved	KIP2	uc002bdb.2	O75838	OTTHUMG00000143731	ENST00000258930.3:c.312A>G	15.37:g.78401611T>C			B4DDF0|H0YM71|Q05BT6	Missense_Mutation	SNP	NULL	p.E67G	ENST00000258930.3	37	c.200	CCDS10296.1	15																																																																																			CIB2	-	NULL	ENSG00000136425		0.557	CIB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIB2	HGNC	protein_coding	OTTHUMT00000289798.1	-	0.00	86	0	T	NM_006383		78401611	-1	tier1	-	no_errors	ENST00000557917	ensembl	human	known	74_37	missense	24.73	70	23	SNP	0.654	C
CLEC5A	23601	genome.wustl.edu	37	7	141631337	141631337	+	Intron	SNP	C	C	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:141631337C>G	ENST00000546910.1	-	6	649				CLEC5A_ENST00000439991.1_Intron|MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Intron|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000438351.1_3'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A						cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					AAAGTTTGATCTCTTTCATAA	0.333																																					GBM(154;1592 2613 3360 42983)												0																																										SO:0001627	intron_variant	0				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.452+182G>C	7.37:g.141631337C>G			Q52M11|Q9UKQ0	RNA	SNP	-	NULL	ENST00000546910.1	37	NULL	CCDS5870.1	7																																																																																			CLEC5A	-	-	ENSG00000258227		0.333	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC5A	HGNC	protein_coding	OTTHUMT00000347756.1	-	0.00	16	0	C	NM_013252		141631337	-1	tier1	-	no_errors	ENST00000470595	ensembl	human	putative	74_37	rna	28.57	10	4	SNP	0.001	G
CNOT6	57472	genome.wustl.edu	37	5	179994124	179994124	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:179994124G>A	ENST00000393356.1	+	10	1178	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CNOT6_ENST00000261951.4_Missense_Mutation_p.V252I			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	252	Nuclease domain. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of ligand-dependent nuclear receptor transcription coactivator activity (GO:2000327)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTTTTTCTGGTAGAGCTGAA	0.363																																																	0													127.0	124.0	125.0					5																	179994124		2203	4300	6503	SO:0001583	missense	0			AB033020	CCDS4455.1	5q35.3	2014-06-17			ENSG00000113300	ENSG00000113300			14099	protein-coding gene	gene with protein product		608951				11889047	Standard	XM_005265953		Approved	CCR4, KIAA1194, Ccr4a	uc003mlx.3	Q9ULM6	OTTHUMG00000130935	ENST00000393356.1:c.754G>A	5.37:g.179994124G>A	ENSP00000377024:p.Val252Ile		A7MD46|D3DWR0	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp	p.V252I	ENST00000393356.1	37	c.754	CCDS4455.1	5	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170732	0.57584	.	.	ENSG00000113300	ENST00000261951;ENST00000393356;ENST00000504343	T;T;T	0.80214	-1.35;-1.35;-1.35	5.36	5.36	0.76844	Endonuclease/exonuclease/phosphatase (2);	0.199295	0.44688	D	0.000427	T	0.73297	0.3569	L	0.34521	1.04	0.38400	D	0.94564	B;B	0.19583	0.037;0.002	B;B	0.29524	0.103;0.024	T	0.68416	-0.5414	9	.	.	.	-9.4813	14.9987	0.71455	0.0:0.1421:0.8579:0.0	.	156;252	D6R9H6;Q9ULM6	.;CNOT6_HUMAN	I	252;252;156	ENSP00000261951:V252I;ENSP00000377024:V252I;ENSP00000422087:V156I	.	V	+	1	0	CNOT6	179926730	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.656000	0.46716	2.690000	0.91761	0.655000	0.94253	GTA	CNOT6	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000113300		0.363	CNOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT6	HGNC	protein_coding	OTTHUMT00000253532.1		0.00	56	0	G	NM_015455		179994124	+1			no_errors	ENST00000261951	ensembl	human	known	74_37	missense	6.38	44	3	SNP	1.000	A
CNTNAP3	79937	genome.wustl.edu	37	9	39149870	39149870	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:39149870A>C	ENST00000297668.6	-	10	1655	c.1582T>G	c.(1582-1584)Tta>Gta	p.L528V	CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L528V|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L528V|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L440V	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	528	Laminin G-like 2. {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)		TGCTGTACTAAGATGGGATCC	0.567																																																	0													7.0	8.0	7.0					9																	39149870		2040	4067	6107	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.1582T>G	9.37:g.39149870A>C	ENSP00000297668:p.Leu528Val		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.L528V	ENST00000297668.6	37	c.1582	CCDS6616.1	9	.	.	.	.	.	.	.	.	.	.	a	3.359	-0.130862	0.06753	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000377659	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	2.95	0.24	0.15489	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	.	.	.	.	T	0.50633	0.1627	N	0.25890	0.77	0.09310	N	0.999999	B;B;B	0.25743	0.006;0.133;0.035	B;B;B	0.25987	0.006;0.065;0.065	T	0.31530	-0.9940	9	0.19147	T	0.46	.	4.6803	0.12732	0.6121:0.1936:0.0:0.1944	.	528;528;528	Q9BZ76-2;A6NC89;Q9BZ76	.;.;CNTP3_HUMAN	V	528;528;440;528	ENSP00000297668:L528V;ENSP00000366884:L528V;ENSP00000350863:L440V;ENSP00000366887:L528V	ENSP00000297668:L528V	L	-	1	2	CNTNAP3	39139870	0.000000	0.05858	0.001000	0.08648	0.569000	0.35902	0.093000	0.15086	-0.062000	0.13088	0.378000	0.23410	TTA	CNTNAP3	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000106714		0.567	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	89	0	A	NM_033655		39149870	-1	tier1	-	no_errors	ENST00000297668	ensembl	human	known	74_37	missense	14.77	75	13	SNP	0.000	C
COL11A1	1301	genome.wustl.edu	37	1	103491143	103491143	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:103491143T>G	ENST00000370096.3	-	7	1236	c.924A>C	c.(922-924)gaA>gaC	p.E308D	COL11A1_ENST00000358392.2_Missense_Mutation_p.E320D|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Missense_Mutation_p.E269D	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	308	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATAGTTGTATTCTTGAAAAT	0.353																																																	0													123.0	117.0	119.0					1																	103491143		2203	4299	6502	SO:0001583	missense	0			J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.924A>C	1.37:g.103491143T>G	ENSP00000359114:p.Glu308Asp		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.E320D	ENST00000370096.3	37	c.960	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054441	0.36277	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.88046	-2.3;-0.64;-2.33;-0.57	5.53	-0.889	0.10580	.	0.288499	0.39020	N	0.001499	T	0.51363	0.1670	N	0.21508	0.67	0.26663	N	0.971879	B;B;B	0.11235	0.004;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.48906	-0.8993	10	0.11794	T	0.64	.	5.5427	0.17047	0.0:0.2055:0.2593:0.5351	.	269;320;308	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	D	308;320;269;320	ENSP00000359114:E308D;ENSP00000351163:E320D;ENSP00000302551:E269D;ENSP00000408640:E320D	ENSP00000302551:E269D	E	-	3	2	COL11A1	103263731	0.004000	0.15560	0.997000	0.53966	0.996000	0.88848	-1.819000	0.01716	-0.158000	0.11040	0.519000	0.50382	GAA	COL11A1	-	NULL	ENSG00000060718		0.353	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	53	0	T	NM_080630		103491143	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	45.28	29	24	SNP	0.999	G
COL5A1	1289	genome.wustl.edu	37	9	137704471	137704471	+	Silent	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:137704471C>A	ENST00000371817.3	+	48	4179	c.3765C>A	c.(3763-3765)ggC>ggA	p.G1255G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1255	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GTCCCCCTGGCCCCCGAGGAC	0.632																																																	0													33.0	30.0	31.0					9																	137704471		2198	4294	6492	SO:0001819	synonymous_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.3765C>A	9.37:g.137704471C>A			Q15094|Q5SUX4	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G1255	ENST00000371817.3	37	c.3765	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.632	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	-	0.00	38	0	C	NM_000093		137704471	+1	tier1	-	no_errors	ENST00000371817	ensembl	human	known	74_37	silent	35.29	22	12	SNP	0.999	A
CPNE4	131034	genome.wustl.edu	37	3	131268914	131268914	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:131268914T>G	ENST00000512055.1	-	18	3305	c.1179A>C	c.(1177-1179)ggA>ggC	p.G393G	CPNE4_ENST00000512332.1_Silent_p.G411G|CPNE4_ENST00000502818.1_Silent_p.G411G|CPNE4_ENST00000429747.1_Silent_p.G393G|CPNE4_ENST00000511604.1_Silent_p.G393G			Q96A23	CPNE4_HUMAN	copine IV	393	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTTCCACAACTCCTTGAATTC	0.448																																																	0													103.0	101.0	101.0					3																	131268914		2203	4300	6503	SO:0001819	synonymous_variant	0			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1179A>C	3.37:g.131268914T>G			D3DNC5|Q8TEX1	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom	p.G411	ENST00000512055.1	37	c.1233	CCDS3072.1	3																																																																																			CPNE4	-	pfam_Copine,smart_VWF_A	ENSG00000196353		0.448	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4		0.00	39	0	T	NM_130808		131268914	-1			no_errors	ENST00000502818	ensembl	human	known	74_37	silent	15.94	57	11	SNP	0.954	G
CRMP1	1400	genome.wustl.edu	37	4	5838626	5838626	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:5838626A>G	ENST00000397890.2	-	10	1190	c.976T>C	c.(976-978)Ttg>Ctg	p.L326L	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.L324L|CRMP1_ENST00000324989.7_Silent_p.L440L	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	326					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GTGACCTGCAAGTCCCCACTG	0.542																																																	0													86.0	76.0	79.0					4																	5838626		2203	4300	6503	SO:0001819	synonymous_variant	0			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.976T>C	4.37:g.5838626A>G			A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.L440	ENST00000397890.2	37	c.1318	CCDS43207.1	4																																																																																			CRMP1	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000072832		0.542	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	-	0.00	58	0	A	NM_001313		5838626	-1	tier1	-	no_errors	ENST00000324989	ensembl	human	known	74_37	silent	15.79	48	9	SNP	1.000	G
CRTC3	64784	genome.wustl.edu	37	15	91172647	91172647	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:91172647T>C	ENST00000268184.6	+	11	1153	c.1149T>C	c.(1147-1149)tcT>tcC	p.S383S	CRTC3_ENST00000420329.2_Silent_p.S383S|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	383					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GCGGCCCGTCTCGGCGTCGGC	0.587			T	MAML2	salivary gland mucoepidermoid																																			Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	0													200.0	205.0	203.0					15																	91172647		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1149T>C	15.37:g.91172647T>C			Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	NULL	p.S383	ENST00000268184.6	37	c.1149	CCDS32331.1	15																																																																																			CRTC3	-	NULL	ENSG00000140577		0.587	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CRTC3	HGNC	protein_coding	OTTHUMT00000417716.2		0.00	24	0	T	NM_022769		91172647	+1			no_errors	ENST00000268184	ensembl	human	known	74_37	silent	7.89	35	3	SNP	0.508	C
CSMD1	64478	genome.wustl.edu	37	8	2832087	2832087	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:2832087T>G	ENST00000520002.1	-	57	9184	c.8629A>C	c.(8629-8631)Acc>Ccc	p.T2877P	CSMD1_ENST00000537824.1_Missense_Mutation_p.T2876P|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2819P|CSMD1_ENST00000602723.1_Missense_Mutation_p.T2819P|CSMD1_ENST00000602557.1_Missense_Mutation_p.T2877P|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2818P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2877	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCGCCATAGGTAAACAGCTCT	0.547																																																	0													43.0	46.0	45.0					8																	2832087		1994	4155	6149	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8629A>C	8.37:g.2832087T>G	ENSP00000430733:p.Thr2877Pro		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.T2877P	ENST00000520002.1	37	c.8629		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.9|20.9	4.063713|4.063713	0.76187|0.76187	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.64085|.	-0.08;-0.08;-0.08;-0.08|.	5.66|5.66	4.49|4.49	0.54785|0.54785	Complement control module (2);Sushi/SCR/CCP (3);|.	0.064277|.	0.64402|.	D|.	0.000010|.	T|T	0.70622|0.70622	0.3245|0.3245	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.85130|.	0.987;0.994;0.997|.	T|T	0.69285|0.69285	-0.5185|-0.5185	10|5	0.31617|.	T|.	0.26|.	.|.	12.1259|12.1259	0.53917|0.53917	0.1285:0.0:0.0:0.8715|0.1285:0.0:0.0:0.8715	.|.	2877;2877;2818|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	P|S	2819;2877;2738;2876;2818|2293	ENSP00000383047:T2819P;ENSP00000430733:T2877P;ENSP00000441462:T2876P;ENSP00000446243:T2818P|.	ENSP00000320445:T2738P|.	T|Y	-|-	1|2	0|0	CSMD1|CSMD1	2819494|2819494	1.000000|1.000000	0.71417|0.71417	0.041000|0.041000	0.18516|0.18516	0.004000|0.004000	0.04260|0.04260	3.963000|3.963000	0.56773|0.56773	0.946000|0.946000	0.37632|0.37632	0.533000|0.533000	0.62120|0.62120	ACC|TAC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.547	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0.00	50	0	T	NM_033225		2832087	-1			no_errors	ENST00000520002	ensembl	human	known	74_37	missense	7.89	35	3	SNP	0.997	G
CTSW	1521	genome.wustl.edu	37	11	65650545	65650545	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:65650545G>T	ENST00000307886.3	+	8	797	c.751G>T	c.(751-753)Gcg>Tcg	p.A251S	CTSW_ENST00000528419.1_Missense_Mutation_p.A251S	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	251					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCAGGAATTGCGCAGTACCT	0.587																																																	0													221.0	187.0	199.0					11																	65650545		2201	4296	6497	SO:0001583	missense	0			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.751G>T	11.37:g.65650545G>T	ENSP00000311300:p.Ala251Ser		Q86VT4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.A251S	ENST00000307886.3	37	c.751	CCDS8117.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.093892	0.94149	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	T;T	0.30981	1.51;1.51	5.38	5.38	0.77491	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000001	T	0.48241	0.1489	M	0.71920	2.185	0.41109	D	0.985723	D;D	0.58268	0.958;0.982	P;P	0.55260	0.772;0.767	T	0.51942	-0.8641	10	0.72032	D	0.01	.	14.6208	0.68582	0.0:0.0:1.0:0.0	.	251;251	P56202;E9PI30	CATW_HUMAN;.	S	251	ENSP00000311300:A251S;ENSP00000436568:A251S	ENSP00000311300:A251S	A	+	1	0	CTSW	65407121	0.956000	0.32656	0.400000	0.26346	0.599000	0.36880	4.684000	0.61686	2.529000	0.85273	0.491000	0.48974	GCG	CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000172543		0.587	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	-	0.00	47	0	G	NM_001335		65650545	+1	tier1	-	no_errors	ENST00000307886	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.800	T
DCLRE1A	9937	genome.wustl.edu	37	10	115609147	115609147	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:115609147T>C	ENST00000361384.2	-	2	2634	c.1717A>G	c.(1717-1719)Aaa>Gaa	p.K573E	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.K573E	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	573	Nuclear focus formation.				mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		CCTAGCAATTTCTCTTCCTTT	0.393								Other identified genes with known or suspected DNA repair function																																									0													157.0	155.0	156.0					10																	115609147		2203	4300	6503	SO:0001583	missense	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.1717A>G	10.37:g.115609147T>C	ENSP00000355185:p.Lys573Glu		D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	pfam_DRMBL	p.K573E	ENST00000361384.2	37	c.1717	CCDS7584.1	10	.	.	.	.	.	.	.	.	.	.	T	12.92	2.081146	0.36758	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.66280	-0.2;-0.2	5.56	4.39	0.52855	.	0.500084	0.23206	N	0.050728	T	0.56949	0.2020	M	0.67953	2.075	0.22142	N	0.999339	P	0.52463	0.953	P	0.45195	0.473	T	0.54649	-0.8262	10	0.35671	T	0.21	-15.059	3.2893	0.06943	0.1381:0.0747:0.1442:0.643	.	573	Q6PJP8	DCR1A_HUMAN	E	573	ENSP00000355185:K573E;ENSP00000358311:K573E	ENSP00000355185:K573E	K	-	1	0	DCLRE1A	115599137	0.900000	0.30661	0.676000	0.29932	0.184000	0.23303	0.222000	0.17699	0.995000	0.38917	0.482000	0.46254	AAA	DCLRE1A	-	NULL	ENSG00000198924		0.393	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	-	0.00	42	0	T	NM_014881		115609147	-1	tier1	-	no_errors	ENST00000361384	ensembl	human	known	74_37	missense	14.89	40	7	SNP	0.697	C
DLG4	1742	genome.wustl.edu	37	17	7099575	7099575	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7099575G>A	ENST00000399506.2	-	11	1456	c.1265C>T	c.(1264-1266)tCc>tTc	p.S422F	DLG4_ENST00000302955.6_Missense_Mutation_p.S419F|DLG4_ENST00000399510.2_Missense_Mutation_p.S465F			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	422					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCTCCGCAGGGACGCAGTCCC	0.612																																																	0													57.0	60.0	59.0					17																	7099575		1985	4168	6153	SO:0001583	missense	0			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1265C>T	17.37:g.7099575G>A	ENSP00000382425:p.Ser422Phe		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.S465F	ENST00000399506.2	37	c.1394		17	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465792	0.63513	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.15256	2.44;2.44;2.45	4.64	4.64	0.57946	Src homology-3 domain (1);	.	.	.	.	T	0.31327	0.0793	L	0.55990	1.75	0.80722	D	1	P;P;P;P	0.48089	0.789;0.789;0.905;0.764	P;P;P;P	0.55749	0.775;0.775;0.783;0.631	T	0.01648	-1.1304	9	0.54805	T	0.06	.	15.0591	0.71939	0.0:0.0:1.0:0.0	.	462;422;419;465	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	F	422;419;465;465;362;465	ENSP00000382425:S422F;ENSP00000307471:S419F;ENSP00000382428:S465F	ENSP00000293813:S465F	S	-	2	0	DLG4	7040299	1.000000	0.71417	0.999000	0.59377	0.643000	0.38383	9.624000	0.98398	2.395000	0.81488	0.585000	0.79938	TCC	DLG4	-	pirsf_M-assoc_guanylate_kinase,superfamily_SH3_domain	ENSG00000132535		0.612	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	-	0.00	66	0	G	NM_001365		7099575	-1	tier1	-	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	42.86	36	27	SNP	1.000	A
DOCK2	1794	genome.wustl.edu	37	5	169508960	169508960	+	Missense_Mutation	SNP	A	A	G	rs143896166	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:169508960A>G	ENST00000256935.8	+	51	5482	c.5402A>G	c.(5401-5403)aAg>aGg	p.K1801R	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.K862R|DOCK2_ENST00000520908.1_Missense_Mutation_p.K1293R	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1801					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCACACGGAAGAAGGTCAAT	0.527													A|||	2	0.000399361	0.0015	0.0	5008	,	,		19356	0.0		0.0	False		,,,				2504	0.0																0								A	ARG/LYS	2,4404	4.2+/-10.8	0,2,2201	112.0	103.0	106.0		5402	4.8	1.0	5	dbSNP_134	106	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK2	NM_004946.2	26	0,3,6500	GG,GA,AA		0.0116,0.0454,0.0231	benign	1801/1831	169508960	3,13003	2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5402A>G	5.37:g.169508960A>G	ENSP00000256935:p.Lys1801Arg		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.K1801R	ENST00000256935.8	37	c.5402	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	A	17.49	3.402224	0.62288	4.54E-4	1.16E-4	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.09163	3.66;3.29;3.01	4.84	4.84	0.62591	.	0.300990	0.32401	N	0.006157	T	0.07369	0.0186	N	0.14661	0.345	0.30319	N	0.787812	P;P;P	0.49090	0.651;0.919;0.651	B;B;B	0.42692	0.078;0.395;0.054	T	0.12344	-1.0551	10	0.21540	T	0.41	.	12.6806	0.56920	1.0:0.0:0.0:0.0	.	1293;357;1801	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	R	1801;1293;862	ENSP00000256935:K1801R;ENSP00000429283:K1293R;ENSP00000438827:K862R	ENSP00000256935:K1801R	K	+	2	0	DOCK2	169441538	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.461000	0.66699	1.919000	0.55581	0.533000	0.62120	AAG	DOCK2	-	NULL	ENSG00000134516		0.527	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2	-	0.00	29	0	A	NM_004946		169508960	+1	tier1	rs143896166	no_errors	ENST00000256935	ensembl	human	known	74_37	missense	11.36	39	5	SNP	1.000	G
DYNC1H1	1778	genome.wustl.edu	37	14	102510643	102510643	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:102510643G>A	ENST00000360184.4	+	71	12881	c.12717G>A	c.(12715-12717)ccG>ccA	p.P4239P	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4239					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATAAGATCCCGTGGTCTGCAC	0.597																																																	0													65.0	53.0	57.0					14																	102510643		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.12717G>A	14.37:g.102510643G>A			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.P4239	ENST00000360184.4	37	c.12717	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom	ENSG00000197102		0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	53	0	G	NM_001376		102510643	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	31.25	33	15	SNP	0.006	A
DYNC2H1	79659	genome.wustl.edu	37	11	103349922	103349922	+	Missense_Mutation	SNP	G	G	A	rs144717489	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:103349922G>A	ENST00000375735.2	+	89	13009	c.12865G>A	c.(12865-12867)Ggg>Agg	p.G4289R	DYNC2H1_ENST00000334267.7_Missense_Mutation_p.G902R|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G4296R	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4289					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTCCATGTGGGGGCAACCA	0.438																																																	0													112.0	110.0	110.0					11																	103349922		1958	4150	6108	SO:0001583	missense	0			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.12865G>A	11.37:g.103349922G>A	ENSP00000364887:p.Gly4289Arg		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.G4296R	ENST00000375735.2	37	c.12886	CCDS53701.1	11	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756528	0.49362	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093;ENST00000533197	T;T;T;T	0.07800	3.16;3.16;3.16;3.16	4.9	4.9	0.64082	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.24774	0.0601	L	0.56396	1.775	0.54753	D	0.999981	D;B;B	0.89917	1.0;0.047;0.147	D;B;B	0.76575	0.988;0.206;0.254	T	0.02184	-1.1199	10	0.20046	T	0.44	.	18.4388	0.90656	0.0:0.0:1.0:0.0	.	902;4289;4296	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	R	4289;902;4296;206	ENSP00000364887:G4289R;ENSP00000334021:G902R;ENSP00000381167:G4296R;ENSP00000436736:G206R	ENSP00000334021:G902R	G	+	1	0	DYNC2H1	102855132	1.000000	0.71417	0.943000	0.38184	0.822000	0.46500	8.169000	0.89672	2.422000	0.82143	0.460000	0.39030	GGG	DYNC2H1	-	pfam_Dynein_heavy_dom	ENSG00000187240		0.438	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	-	0.00	53	0	G	XM_370652		103349922	+1	tier1	-	no_errors	ENST00000398093	ensembl	human	known	74_37	missense	9.80	45	5	SNP	1.000	A
EGF	1950	genome.wustl.edu	37	4	110929354	110929354	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:110929354C>T	ENST00000265171.5	+	23	3783	c.3338C>T	c.(3337-3339)cCa>cTa	p.P1113L	EGF_ENST00000503392.1_Missense_Mutation_p.P1072L|EGF_ENST00000509793.1_Missense_Mutation_p.P1071L	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1113					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GGGGGTCAACCAGTGGCTGGT	0.418																																																	0													85.0	91.0	89.0					4																	110929354		2203	4300	6503	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3338C>T	4.37:g.110929354C>T	ENSP00000265171:p.Pro1113Leu		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.P1113L	ENST00000265171.5	37	c.3338	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	C	8.435	0.849454	0.17034	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.89875	-2.58;-2.5;-2.35	3.94	2.2	0.27929	.	0.582939	0.15552	N	0.256341	T	0.80491	0.4633	L	0.32530	0.975	0.09310	N	1	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.13407	0.004;0.009;0.004	T	0.68622	-0.5360	10	0.48119	T	0.1	.	4.964	0.14082	0.2068:0.6854:0.0:0.1078	.	1072;1071;1113	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	L	1071;1113;1072	ENSP00000424316:P1071L;ENSP00000265171:P1113L;ENSP00000421384:P1072L	ENSP00000265171:P1113L	P	+	2	0	EGF	111148803	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.423000	0.21313	0.612000	0.30071	-0.143000	0.13931	CCA	EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	-	0.00	156	0	C			110929354	+1	tier1	-	no_errors	ENST00000265171	ensembl	human	known	74_37	missense	12.72	151	22	SNP	0.000	T
EIF5A2	56648	genome.wustl.edu	37	3	170612162	170612162	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:170612162T>G	ENST00000295822.2	-	4	506	c.321A>C	c.(319-321)gaA>gaC	p.E107D	EIF5A2_ENST00000460117.1_5'UTR|EIF5A2_ENST00000487522.1_Intron|EIF5A2_ENST00000474096.1_Missense_Mutation_p.K94T	NM_020390.5	NP_065123.1	Q9GZV4	IF5A2_HUMAN	eukaryotic translation initiation factor 5A2	107					cellular protein metabolic process (GO:0044267)|mRNA transport (GO:0051028)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|polyamine homeostasis (GO:0010509)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|translational frameshifting (GO:0006452)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)	ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(22;1.61e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;9.8e-16)|Lung(28;4.28e-15)			CCTCACGAACTTCACCAGTTT	0.378																																																	0													173.0	170.0	171.0					3																	170612162		2203	4300	6503	SO:0001583	missense	0			AF293386	CCDS3214.1	3q26.2	2008-05-15			ENSG00000163577	ENSG00000163577			3301	protein-coding gene	gene with protein product		605782					Standard	NM_020390		Approved		uc003fhd.3	Q9GZV4	OTTHUMG00000158958	ENST00000295822.2:c.321A>C	3.37:g.170612162T>G	ENSP00000295822:p.Glu107Asp		B2R4V5	Missense_Mutation	SNP	pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	p.E107D	ENST00000295822.2	37	c.321	CCDS3214.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.64|12.64	1.999997|1.999997	0.35320|0.35320	.|.	.|.	ENSG00000163577|ENSG00000163577	ENST00000295822;ENST00000474417|ENST00000474096	T;T|T	0.42131|0.46063	0.98;1.0|0.88	6.16|6.16	2.51|2.51	0.30379|0.30379	Nucleic acid-binding, OB-fold-like (1);Translation elongation factor, IF5A C-terminal (1);Nucleic acid-binding, OB-fold (1);|.	0.143152|.	0.48767|.	N|.	0.000173|.	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.02169|0.02169	-0.655|-0.655	0.22926|0.22926	N|N	0.998552|0.998552	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.17137|0.17137	-1.0379|-1.0379	10|7	0.05721|0.87932	T|D	0.95|0	-0.9905|-0.9905	5.1161|5.1161	0.14834|0.14834	0.1216:0.196:0.0:0.6824|0.1216:0.196:0.0:0.6824	.|.	107|.	Q9GZV4|.	IF5A2_HUMAN|.	D|T	107;88|94	ENSP00000295822:E107D;ENSP00000417133:E88D|ENSP00000418370:K94T	ENSP00000295822:E107D|ENSP00000418370:K94T	E|K	-|-	3|2	2|0	EIF5A2|EIF5A2	172094856|172094856	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.681000|0.681000	0.25320|0.25320	0.203000|0.203000	0.20529|0.20529	0.528000|0.528000	0.53228|0.53228	GAA|AAG	EIF5A2	-	pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A	ENSG00000163577		0.378	EIF5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF5A2	HGNC	protein_coding	OTTHUMT00000352681.1	-	0.00	81	0	T			170612162	-1	tier1	-	no_errors	ENST00000295822	ensembl	human	known	74_37	missense	14.94	74	13	SNP	0.999	G
ELK4	2005	genome.wustl.edu	37	1	205589938	205589938	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:205589938T>G	ENST00000357992.4	-	3	575	c.236A>C	c.(235-237)aAg>aCg	p.K79T	ELK4_ENST00000289703.4_Missense_Mutation_p.K79T|ELK4_ENST00000468523.1_5'UTR	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	79					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTACACAAACTTCTGACCATT	0.338			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	0													62.0	59.0	60.0					1																	205589938		2203	4300	6503	SO:0001583	missense	0			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.236A>C	1.37:g.205589938T>G	ENSP00000350681:p.Lys79Thr		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.K79T	ENST00000357992.4	37	c.236	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.554784	0.86231	.	.	ENSG00000158711	ENST00000539916;ENST00000357992;ENST00000289703	T;T	0.27557	1.66;1.66	5.81	5.81	0.92471	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.993;0.999	T	0.75947	-0.3138	10	0.87932	D	0	.	14.9939	0.71415	0.0:0.0:0.0:1.0	.	79;79	P28324-2;P28324	.;ELK4_HUMAN	T	169;79;79	ENSP00000350681:K79T;ENSP00000289703:K79T	ENSP00000289703:K79T	K	-	2	0	ELK4	203856561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.217000	0.71921	0.533000	0.62120	AAG	ELK4	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000158711		0.338	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	-	0.00	25	0	T	NM_021795		205589938	-1	tier1	-	no_errors	ENST00000357992	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G
ELL2	22936	genome.wustl.edu	37	5	95236437	95236437	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:95236437G>A	ENST00000237853.4	-	7	1263	c.914C>T	c.(913-915)tCt>tTt	p.S305F	ELL2_ENST00000431061.2_Intron	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	305					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)		ACATACAGGAGATTCTGAACG	0.398																																																	0													74.0	73.0	74.0					5																	95236437		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.914C>T	5.37:g.95236437G>A	ENSP00000237853:p.Ser305Phe		B4DNK7	Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.S305F	ENST00000237853.4	37	c.914	CCDS4080.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.727987	0.48833	.	.	ENSG00000118985	ENST00000237853;ENST00000513343	T;T	0.34472	1.54;1.36	5.7	5.7	0.88788	.	0.202993	0.52532	N	0.000067	T	0.60261	0.2255	M	0.66939	2.045	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	T	0.61222	-0.7106	10	0.72032	D	0.01	0.2349	17.6034	0.88031	0.0:0.0:1.0:0.0	.	305	O00472	ELL2_HUMAN	F	305;123	ENSP00000237853:S305F;ENSP00000423915:S123F	ENSP00000237853:S305F	S	-	2	0	ELL2	95262193	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.378000	0.59568	2.682000	0.91365	0.561000	0.74099	TCT	ELL2	-	NULL	ENSG00000118985		0.398	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL2	HGNC	protein_coding	OTTHUMT00000242846.1	-	0.00	43	0	G	NM_012081		95236437	-1	tier1	-	no_errors	ENST00000237853	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	A
ENPP6	133121	genome.wustl.edu	37	4	185038014	185038014	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:185038014A>G	ENST00000296741.2	-	5	991	c.850T>C	c.(850-852)Tct>Cct	p.S284P		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	284					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTGCCTCAGAGTGTTTCCCA	0.542																																																	0													64.0	65.0	65.0					4																	185038014		2203	4300	6503	SO:0001583	missense	0			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.850T>C	4.37:g.185038014A>G	ENSP00000296741:p.Ser284Pro		Q4W5Q1|Q96M57	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S284P	ENST00000296741.2	37	c.850	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	A	8.627	0.892789	0.17613	.	.	ENSG00000164303	ENST00000296741	T	0.72615	-0.67	5.63	-2.31	0.06765	Alkaline-phosphatase-like, core domain (1);	2.051990	0.01516	N	0.018120	T	0.67487	0.2898	L	0.40543	1.245	0.09310	N	1	B	0.30526	0.283	B	0.37989	0.262	T	0.58216	-0.7675	10	0.37606	T	0.19	-6.2862	11.728	0.51720	0.3599:0.536:0.0:0.1041	.	284	Q6UWR7	ENPP6_HUMAN	P	284	ENSP00000296741:S284P	ENSP00000296741:S284P	S	-	1	0	ENPP6	185275008	0.002000	0.14202	0.305000	0.25099	0.067000	0.16453	0.020000	0.13466	-0.133000	0.11537	-1.236000	0.01555	TCT	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000164303		0.542	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	-	0.00	50	0	A	NM_153343		185038014	-1	tier1	-	no_errors	ENST00000296741	ensembl	human	known	74_37	missense	13.33	39	6	SNP	0.003	G
CNGB3	54714	genome.wustl.edu	37	8	87670153	87670153	+	Intron	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:87670153C>T	ENST00000320005.5	-	7	900				AC013751.1_ENST00000408210.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3						cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GTGCAGCTCCCCCTGCCATGC	0.592																																																	0																																										SO:0001627	intron_variant	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.853-3863G>A	8.37:g.87670153C>T			C9JA51|Q9NRE9	RNA	SNP	-	NULL	ENST00000320005.5	37	NULL	CCDS6244.1	8																																																																																			AC013751.1	-	-	ENSG00000221137		0.592	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221137	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000375107.1	-	0.00	86	0	C	NM_019098		87670153	-1	tier1	-	no_errors	ENST00000408210	ensembl	human	novel	74_37	rna	30.77	54	24	SNP	0.252	T
GS1-124K5.11	493754	genome.wustl.edu	37	7	66006391	66006391	+	lincRNA	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:66006391C>T	ENST00000449307.3	-	0	1145																											AGAGATGGAACGTGCCGTTGC	0.557																																																	0																																												0																															7.37:g.66006391C>T				RNA	SNP	-	NULL	ENST00000449307.3	37	NULL		7																																																																																			GS1-124K5.11	-	-	ENSG00000229180		0.557	GS1-124K5.11-001	KNOWN	basic	lincRNA	ENSG00000229180	Clone_based_vega_gene	lincRNA	OTTHUMT00000345605.3	-	0.00	79	0	C			66006391	-1	tier1	-	no_errors	ENST00000449307	ensembl	human	known	74_37	rna	9.64	75	8	SNP	0.000	T
THBS3	7059	genome.wustl.edu	37	1	155172948	155172948	+	Intron	SNP	A	A	G	rs144612465		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:155172948A>G	ENST00000368378.3	-	7	777				RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_Intron|THBS3_ENST00000541576.1_5'Flank|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Intron|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_Intron|RP11-263K19.4_ENST00000436772.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3						bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GATGGGGAGGAGTCAGCACTT	0.577																																																	0													143.0	126.0	132.0					1																	155172948		2203	4300	6503	SO:0001627	intron_variant	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.757-20T>C	1.37:g.155172948A>G			B1AVR8|B4DQ20|Q8WV34	RNA	SNP	-	NULL	ENST00000368378.3	37	NULL	CCDS1099.1	1																																																																																			RP11-263K19.4	-	-	ENSG00000231064		0.577	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000231064	Clone_based_vega_gene	protein_coding	OTTHUMT00000086856.1	-	0.00	81	0	A	NM_007112		155172948	+1	tier1	-	no_errors	ENST00000430312	ensembl	human	known	74_37	rna	14.29	60	10	SNP	0.001	G
ELN	2006	genome.wustl.edu	37	7	73474134	73474134	+	Intron	SNP	C	C	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:73474134C>G	ENST00000252034.7	+	23	1813				CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000358929.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin						blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				atgccagggccgaggctccag	0.517			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0																																										SO:0001627	intron_variant	0				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1415-82C>G	7.37:g.73474134C>G			B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	RNA	SNP	-	NULL	ENST00000252034.7	37	NULL	CCDS5562.2	7																																																																																			CTB-51J22.1	-	-	ENSG00000232415		0.517	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000232415	Clone_based_vega_gene	protein_coding	OTTHUMT00000316913.1	-	0.00	76	0	C	NM_000501		73474134	-1	tier1	-	no_errors	ENST00000435932	ensembl	human	known	74_37	rna	51.96	49	53	SNP	0.085	G
GZMK	3003	genome.wustl.edu	37	5	54329903	54329903	+	3'UTR	SNP	G	G	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:54329903G>C	ENST00000231009.2	+	0	1014				CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TTTTTCACTTGTATCACTGAT	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	0			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.*149G>C	5.37:g.54329903G>C			B2R563	RNA	SNP	-	NULL	ENST00000231009.2	37	NULL	CCDS3964.1	5																																																																																			CTD-2313F11.1	-	-	ENSG00000240535		0.353	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000240535	Clone_based_vega_gene	protein_coding	OTTHUMT00000214098.1	-	0.00	9	0	G	NM_002104		54329903	-1	tier1	-	no_errors	ENST00000595218	ensembl	human	known	74_37	rna	28.57	10	4	SNP	0.000	C
MGAM2	93432	genome.wustl.edu	37	7	141864709	141864709	+	Silent	SNP	C	C	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:141864709C>G	ENST00000477922.3	+	24	2592	c.2538C>G	c.(2536-2538)ctC>ctG	p.L846L																	endometrium(1)|lung(5)	6						CTGACAACCTCATGTTCACAG	0.398																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000477922.3:c.2538C>G	7.37:g.141864709C>G				Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.L846	ENST00000477922.3	37	c.2538		7																																																																																			RP11-1220K2.2	-	NULL	ENSG00000257743		0.398	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	34	0	C			141864709	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	silent	32.26	42	20	SNP	0.000	G
RP11-713N11.5	0	genome.wustl.edu	37	12	25170150	25170150	+	lincRNA	SNP	T	T	C	rs186678018	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:25170150T>C	ENST00000556060.1	+	0	379																											TAAGTTTAAGTTGGCTTTAGA	0.413																																																	0																																												0																															12.37:g.25170150T>C				RNA	SNP	-	NULL	ENST00000556060.1	37	NULL		12																																																																																			RP11-713N11.5	-	-	ENSG00000258879		0.413	RP11-713N11.5-001	KNOWN	basic	lincRNA	ENSG00000258879	Clone_based_vega_gene	lincRNA	OTTHUMT00000410589.1	-	0.00	47	0	T			25170150	+1	tier1	-	no_errors	ENST00000556060	ensembl	human	known	74_37	rna	6.76	69	5	SNP	0.181	C
RP11-652G5.1	0	genome.wustl.edu	37	16	32618989	32618989	+	RNA	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:32618989G>A	ENST00000562976.1	+	0	524																											TGTGCTTATAGTGACTCTGTT	0.527																																																	0																																												0																															16.37:g.32618989G>A				RNA	SNP	-	NULL	ENST00000562976.1	37	NULL		16																																																																																			RP11-652G5.1	-	-	ENSG00000259966		0.527	RP11-652G5.1-002	KNOWN	basic	processed_transcript	ENSG00000259966	Clone_based_vega_gene	pseudogene	OTTHUMT00000432347.1	-	0.00	32	0	G			32618989	+1	tier1	-	no_errors	ENST00000562976	ensembl	human	known	74_37	rna	66.00	17	33	SNP	0.002	A
OTX2	5015	genome.wustl.edu	37	14	57267296	57267296	+	IGR	DEL	A	A	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:57267296delA	ENST00000555006.1	-	0	1279				RP11-1085N6.6_ENST00000602485.1_lincRNA			P32243	OTX2_HUMAN	orthodenticle homeobox 2						axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAGATTAGCAAAAAAAAAAA	0.328																																																	0																																										SO:0001628	intergenic_variant	0			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338		14.37:g.57267296delA			B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	RNA	DEL	-	NULL	ENST00000555006.1	37	NULL	CCDS41960.1	14																																																																																			RP11-1085N6.6	-	-	ENSG00000270163		0.328	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000270163	Clone_based_vega_gene	protein_coding	OTTHUMT00000411522.1		0.00	8	0	A	NM_021728.		57267296	-1	tier1		no_errors	ENST00000602485	ensembl	human	known	74_37	rna	30.00	7	3	DEL	0.000	-
EPHA2	1969	genome.wustl.edu	37	1	16461561	16461561	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:16461561C>T	ENST00000358432.5	-	7	1706	c.1552G>A	c.(1552-1554)Ggc>Agc	p.G518S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	518	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	ACCTTGCTGCCGGCCCCCTGG	0.647																																																	0													122.0	133.0	129.0					1																	16461561		2203	4300	6503	SO:0001583	missense	0			BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1552G>A	1.37:g.16461561C>T	ENSP00000351209:p.Gly518Ser		B5A968|Q8N3Z2	Missense_Mutation	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.G518S	ENST00000358432.5	37	c.1552	CCDS169.1	1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995006	0.54041	.	.	ENSG00000142627	ENST00000358432	T	0.52057	0.68	5.4	4.49	0.54785	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.115878	0.39020	N	0.001498	T	0.27098	0.0664	N	0.14661	0.345	0.40495	D	0.980581	B	0.02656	0.0	B	0.04013	0.001	T	0.08472	-1.0720	10	0.27785	T	0.31	.	7.0812	0.25231	0.1699:0.7427:0.0:0.0874	.	518	P29317	EPHA2_HUMAN	S	518	ENSP00000351209:G518S	ENSP00000351209:G518S	G	-	1	0	EPHA2	16334148	0.216000	0.23585	0.997000	0.53966	0.998000	0.95712	1.445000	0.35079	1.285000	0.44548	0.655000	0.94253	GGC	EPHA2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000142627		0.647	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	HGNC	protein_coding	OTTHUMT00000026322.1	-	0.00	62	0	C	NM_004431		16461561	-1	tier1	-	no_errors	ENST00000358432	ensembl	human	known	74_37	missense	40.58	41	28	SNP	0.999	T
ERBB2	2064	genome.wustl.edu	37	17	37880988	37880989	+	In_Frame_Ins	INS	-	-	TGA			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:37880988_37880989insTGA	ENST00000269571.5	+	20	2476_2477	c.2317_2318insTGA	c.(2317-2319)gtg>gTGAtg	p.774_775insM	ERBB2_ENST00000541774.1_In_Frame_Ins_p.759_760insM|ERBB2_ENST00000445658.2_In_Frame_Ins_p.498_499insM|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_In_Frame_Ins_p.744_745insM|ERBB2_ENST00000406381.2_In_Frame_Ins_p.744_745insM|ERBB2_ENST00000584450.1_In_Frame_Ins_p.774_775insM|ERBB2_ENST00000540147.1_In_Frame_Ins_p.744_745insM			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	774	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		M -> MAYVM (in a lung adenocarcinoma sample; somatic mutation).		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V773A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGAAGCATACGTGATGGCTGGT	0.594		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)																																								SO:0001652	inframe_insertion	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2318_2320dupTGA	17.37:g.37880989_37880991dupTGA	ENSP00000269571:p.Met774_Met774dup		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	In_Frame_Ins	INS	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.775in_frame_insM	ENST00000269571.5	37	c.2317_2318	CCDS32642.1	17																																																																																			ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000141736		0.594	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2		0.00	98	0	-			37880989	+1	tier1		no_errors	ENST00000269571	ensembl	human	known	74_37	in_frame_ins	67.00	100	203	INS	1.000:1.000	TGA
ERG	2078	genome.wustl.edu	37	21	39755716	39755716	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr21:39755716C>T	ENST00000417133.2	-	12	1255	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	ERG_ENST00000398905.1_Missense_Mutation_p.R326H|ERG_ENST00000398919.2_Missense_Mutation_p.R357H|ERG_ENST00000442448.1_Missense_Mutation_p.R333H|ERG_ENST00000398911.1_Missense_Mutation_p.R333H|ERG_ENST00000288319.7_Missense_Mutation_p.R350H|ERG_ENST00000398897.1_Missense_Mutation_p.R234H|ERG_ENST00000453032.2_Missense_Mutation_p.R258H|ERG_ENST00000398907.1_Missense_Mutation_p.R327H|ERG_ENST00000398910.1_Missense_Mutation_p.R334H	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CTCTCCCCAGCGCCGGGCCAC	0.587			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)			Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													95.0	84.0	88.0					21																	39755716		2203	4300	6503	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1070G>A	21.37:g.39755716C>T	ENSP00000414150:p.Arg357His		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.R357H	ENST00000417133.2	37	c.1070	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	C	31	5.096564	0.94197	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.992	T	0.82133	-0.0608	10	0.87932	D	0	.	18.7596	0.91845	0.0:1.0:0.0:0.0	.	357;326;333;350	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	H	326;327;350;234;333;357;334;333;258;357	ENSP00000381877:R326H;ENSP00000381879:R327H;ENSP00000288319:R350H;ENSP00000381871:R234H;ENSP00000381882:R333H;ENSP00000414150:R357H;ENSP00000381881:R334H;ENSP00000394694:R333H;ENSP00000396268:R258H;ENSP00000381891:R357H	ENSP00000288319:R350H	R	-	2	0	ERG	38677586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.404000	0.81709	0.655000	0.94253	CGC	ERG	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000157554		0.587	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2		0.00	47	0	C	NM_182918		39755716	-1			no_errors	ENST00000398919	ensembl	human	known	74_37	missense	8.11	34	3	SNP	1.000	T
ERLEC1	27248	genome.wustl.edu	37	2	54045062	54045062	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:54045062T>G	ENST00000185150.4	+	14	1539	c.1408T>G	c.(1408-1410)Tta>Gta	p.L470V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L416V|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L444V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	470					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CTGTAAAATCTTAGATACAGC	0.338																																																	0													136.0	136.0	136.0					2																	54045062		2203	4298	6501	SO:0001583	missense	0			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.1408T>G	2.37:g.54045062T>G	ENSP00000185150:p.Leu470Val		B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L470V	ENST00000185150.4	37	c.1408	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	T	17.87	3.495922	0.64186	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.62232	0.04;0.73	5.99	4.85	0.62838	.	0.074129	0.56097	D	0.000033	T	0.72581	0.3478	.	.	.	0.25251	N	0.989675	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.989;0.952;0.996	T	0.63060	-0.6721	9	0.30854	T	0.27	-7.9615	8.8497	0.35192	0.0:0.1513:0.0:0.8487	.	416;444;470	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	V	444;470;416	ENSP00000385629:L444V;ENSP00000185150:L470V	ENSP00000185150:L470V	L	+	1	2	ERLEC1	53898566	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	1.726000	0.38085	1.102000	0.41551	0.533000	0.62120	TTA	ERLEC1	-	NULL	ENSG00000068912		0.338	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	-	0.00	58	0	T	NM_015701		54045062	+1	tier1	-	no_errors	ENST00000185150	ensembl	human	known	74_37	missense	15.15	56	10	SNP	1.000	G
ESR1	2099	genome.wustl.edu	37	6	152129213	152129213	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:152129213G>A	ENST00000206249.3	+	1	528	c.166G>A	c.(166-168)Gag>Aag	p.E56K	ESR1_ENST00000443427.1_Missense_Mutation_p.E56K|ESR1_ENST00000338799.5_Missense_Mutation_p.E56K|ESR1_ENST00000427531.2_5'Flank|ESR1_ENST00000406599.1_Missense_Mutation_p.E56K|ESR1_ENST00000456483.2_Missense_Mutation_p.E56K|ESR1_ENST00000440973.1_Missense_Mutation_p.E56K	NM_000125.3	NP_000116.2	P03372	ESR1_HUMAN	estrogen receptor 1	56	Interaction with DDX5; self-association.|Modulating (transactivation AF-1); mediates interaction with MACROD1.				androgen metabolic process (GO:0008209)|antral ovarian follicle growth (GO:0001547)|cellular response to estradiol stimulus (GO:0071392)|chromatin remodeling (GO:0006338)|epithelial cell development (GO:0002064)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|gene expression (GO:0010467)|intracellular estrogen receptor signaling pathway (GO:0030520)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|male gonad development (GO:0008584)|mammary gland alveolus development (GO:0060749)|mammary gland branching involved in pregnancy (GO:0060745)|negative regulation of gene expression (GO:0010629)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcriptionally active chromatin (GO:0035327)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|estrogen-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0038052)|identical protein binding (GO:0042802)|nitric-oxide synthase regulator activity (GO:0030235)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Allylestrenol(DB01431)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Estropipate(DB04574)|Ethinyl Estradiol(DB00977)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Ospemifene(DB04938)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)|Trilostane(DB01108)	CAACTACCCCGAGGGCGCCGC	0.711																																																	0													16.0	20.0	19.0					6																	152129213		2200	4295	6495	SO:0001583	missense	0			X03635	CCDS5234.1	6q24-q27	2013-01-16			ENSG00000091831	ENSG00000091831		"""Nuclear hormone receptors"""	3467	protein-coding gene	gene with protein product		133430		ESR		3754034	Standard	NM_000125		Approved	NR3A1, Era	uc003qon.4	P03372	OTTHUMG00000016103	ENST00000206249.3:c.166G>A	6.37:g.152129213G>A	ENSP00000206249:p.Glu56Lys		Q13511|Q14276|Q5T5H7|Q6MZQ9|Q9NU51|Q9UDZ7|Q9UIS7	Missense_Mutation	SNP	pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.E56K	ENST00000206249.3	37	c.166	CCDS5234.1	6	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698986	0.88830	.	.	ENSG00000091831	ENST00000404742;ENST00000440973;ENST00000338799;ENST00000456483;ENST00000446550;ENST00000443427;ENST00000206249;ENST00000406599	T;T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12;1.12	4.82	3.95	0.45737	.	0.362660	0.30365	N	0.009796	T	0.53302	0.1788	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.997;0.997	D;P;P;P	0.72982	0.979;0.882;0.813;0.882	T	0.61382	-0.7074	10	0.87932	D	0	.	12.9854	0.58588	0.0793:0.0:0.9207:0.0	.	56;56;56;56	Q9H2M1;A8KAF4;G4XH65;P03372	.;.;.;ESR1_HUMAN	K	56	ENSP00000385373:E56K;ENSP00000405330:E56K;ENSP00000342630:E56K;ENSP00000415934:E56K;ENSP00000411105:E56K;ENSP00000387500:E56K;ENSP00000206249:E56K;ENSP00000384064:E56K	ENSP00000206249:E56K	E	+	1	0	ESR1	152170906	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.261000	0.78400	1.041000	0.40125	0.563000	0.77884	GAG	ESR1	-	pfam_Oestr_rcpt,prints_Oestr_rcpt	ENSG00000091831		0.711	ESR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESR1	HGNC	protein_coding	OTTHUMT00000043308.1	-	0.00	37	0	G			152129213	+1	tier1	-	no_errors	ENST00000206249	ensembl	human	known	74_37	missense	20.45	35	9	SNP	1.000	A
ETAA1	54465	genome.wustl.edu	37	2	67631302	67631302	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:67631302T>C	ENST00000272342.5	+	5	1618	c.1488T>C	c.(1486-1488)aaT>aaC	p.N496N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	496						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AAATTCAAAATTGTATAGTTA	0.279																																																	0													21.0	23.0	22.0					2																	67631302		2137	4255	6392	SO:0001819	synonymous_variant	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1488T>C	2.37:g.67631302T>C			Q05BT7|Q53SC4	Silent	SNP	NULL	p.N496	ENST00000272342.5	37	c.1488	CCDS1882.1	2																																																																																			ETAA1	-	NULL	ENSG00000143971		0.279	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1		0.00	28	0	T	NM_019002		67631302	+1			no_errors	ENST00000272342	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.002	C
ETAA1	54465	genome.wustl.edu	37	2	67631322	67631322	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:67631322T>C	ENST00000272342.5	+	5	1638	c.1508T>C	c.(1507-1509)cTg>cCg	p.L503P	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	503						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ACATCTAATCTGACAAAAATA	0.289																																																	0													24.0	26.0	26.0					2																	67631322		2164	4276	6440	SO:0001583	missense	0			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1508T>C	2.37:g.67631322T>C	ENSP00000272342:p.Leu503Pro		Q05BT7|Q53SC4	Missense_Mutation	SNP	NULL	p.L503P	ENST00000272342.5	37	c.1508	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	T	1.100	-0.661442	0.03454	.	.	ENSG00000143971	ENST00000272342	T	0.23147	1.92	5.88	-0.406	0.12389	.	1.676730	0.03200	N	0.174691	T	0.28134	0.0694	M	0.62723	1.935	0.09310	N	0.999993	B	0.20671	0.047	B	0.20955	0.032	T	0.34576	-0.9823	10	0.66056	D	0.02	-19.4177	5.8713	0.18805	0.1299:0.3617:0.0:0.5084	.	503	Q9NY74	ETAA1_HUMAN	P	503	ENSP00000272342:L503P	ENSP00000272342:L503P	L	+	2	0	ETAA1	67484826	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.850000	0.27737	-0.066000	0.12998	-0.290000	0.09829	CTG	ETAA1	-	NULL	ENSG00000143971		0.289	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	-	0.00	33	0	T	NM_019002		67631322	+1	tier1	-	no_errors	ENST00000272342	ensembl	human	known	74_37	missense	20.00	16	4	SNP	0.000	C
EYA3	2140	genome.wustl.edu	37	1	28315141	28315141	+	Missense_Mutation	SNP	G	G	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:28315141G>C	ENST00000373871.3	-	16	1685	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	EYA3_ENST00000436342.2_Missense_Mutation_p.T356S|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Missense_Mutation_p.T325S|EYA3_ENST00000373863.3_Missense_Mutation_p.T436S|EYA3_ENST00000545175.1_Missense_Mutation_p.T429S|EYA3_ENST00000540618.1_Missense_Mutation_p.T436S	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	482					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGGTGGTAGTGATCAGAAC	0.413																																																	0													75.0	75.0	75.0					1																	28315141		2203	4300	6503	SO:0001583	missense	0			U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.1445C>G	1.37:g.28315141G>C	ENSP00000362978:p.Thr482Ser		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.T482S	ENST00000373871.3	37	c.1445	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.526771	0.96431	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	6.07	6.07	0.98685	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.90133	0.6917	L	0.59436	1.845	0.80722	D	1	D;D;D	0.71674	0.987;0.996;0.998	D;D;D	0.79108	0.95;0.988;0.992	D	0.88306	0.2953	10	0.45353	T	0.12	-17.4612	20.6593	0.99626	0.0:0.0:1.0:0.0	.	436;436;482	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	S	482;356;325;436;429;436	ENSP00000362978:T482S;ENSP00000405587:T356S;ENSP00000362971:T325S;ENSP00000442558:T436S;ENSP00000442280:T429S;ENSP00000362970:T436S	ENSP00000362970:T436S	T	-	2	0	EYA3	28187728	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.804000	0.99143	2.885000	0.99019	0.655000	0.94253	ACT	EYA3	-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	ENSG00000158161		0.413	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0.00	40	0	G	NM_001990		28315141	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	C
ERICH6	131831	genome.wustl.edu	37	3	150387187	150387187	+	Silent	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:150387187A>C	ENST00000295910.6	-	12	1447	c.1395T>G	c.(1393-1395)ggT>ggG	p.G465G	FAM194A_ENST00000491361.1_Silent_p.G319G	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TACAAGTAAAACCATTTACCT	0.423																																																	0													194.0	177.0	183.0					3																	150387187		2203	4300	6503	SO:0001819	synonymous_variant	0																														ENST00000295910.6:c.1395T>G	3.37:g.150387187A>C				Silent	SNP	NULL	p.G465	ENST00000295910.6	37	c.1395	CCDS3151.2	3																																																																																			FAM194A	-	NULL	ENSG00000163645		0.423	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	-	0.00	60	0	A			150387187	-1	tier1	-	no_errors	ENST00000295910	ensembl	human	known	74_37	silent	10.34	78	9	SNP	0.259	C
FAM230B	642633	genome.wustl.edu	37	22	21537923	21537923	+	RNA	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:21537923A>G	ENST00000451257.1	+	0	909									family with sequence similarity 230, member B (non-protein coding)																		GCCAACGAGGACGCCGCCCAG	0.726																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21537923A>G				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.726	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1	-	0.00	99	0	A	NR_108107		21537923	+1	tier1	-	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	10.67	66	8	SNP	0.197	G
FAM230B	642633	genome.wustl.edu	37	22	21538168	21538168	+	RNA	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:21538168G>A	ENST00000451257.1	+	0	1154									family with sequence similarity 230, member B (non-protein coding)																		CAGCGAGGACGCCGCCCAGGG	0.731																																																	0																																												0			BC039313, AK128837		22q11.21	2014-01-24	2014-01-06		ENSG00000215498	ENSG00000215498			32943	non-coding RNA	RNA, long non-coding			"""family with sequence similarity 230, member B"""				Standard	NR_108107		Approved	FLJ46366			OTTHUMG00000150782		22.37:g.21538168G>A				RNA	SNP	-	NULL	ENST00000451257.1	37	NULL		22																																																																																			FAM230B	-	-	ENSG00000215498		0.731	FAM230B-002	KNOWN	basic	lincRNA	FAM230B	HGNC	processed_transcript	OTTHUMT00000320063.1	-	0.00	146	0	G	NR_108107		21538168	+1	tier1	-	no_errors	ENST00000451257	ensembl	human	known	74_37	rna	13.83	81	13	SNP	0.000	A
FAM65B	9750	genome.wustl.edu	37	6	24843223	24843223	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:24843223C>A	ENST00000259698.4	-	14	1962	c.1787G>T	c.(1786-1788)tGc>tTc	p.C596F	FAM65B_ENST00000473070.1_5'UTR|AL512428.1_ENST00000583229.1_RNA|FAM65B_ENST00000510784.2_Missense_Mutation_p.C580F|FAM65B_ENST00000540914.1_Missense_Mutation_p.C546F|FAM65B_ENST00000538035.1_Missense_Mutation_p.C575F|FAM65B_ENST00000378023.4_Missense_Mutation_p.C546F	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	596					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						AAAGGATCTGCAGCCTTCAGA	0.463																																																	0													160.0	162.0	161.0					6																	24843223		1955	4144	6099	SO:0001583	missense	0			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.1787G>T	6.37:g.24843223C>A	ENSP00000259698:p.Cys596Phe		A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C596F	ENST00000259698.4	37	c.1787	CCDS47383.1	6	.	.	.	.	.	.	.	.	.	.	C	2.292	-0.362120	0.05103	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	5.5	2.67	0.31697	.	0.283792	0.41605	D	0.000848	T	0.07413	0.0187	L	0.51422	1.61	0.23624	N	0.99727	B;B;B;B	0.28291	0.206;0.102;0.127;0.127	B;B;B;B	0.23419	0.046;0.02;0.029;0.029	T	0.35822	-0.9773	10	0.17832	T	0.49	-1.2718	3.4882	0.07627	0.2847:0.4793:0.139:0.097	.	580;575;546;596	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	F	596;575;546;546;580	ENSP00000259698:C596F;ENSP00000441138:C575F;ENSP00000367262:C546F;ENSP00000438425:C546F;ENSP00000441305:C580F	ENSP00000259698:C596F	C	-	2	0	FAM65B	24951202	0.998000	0.40836	0.011000	0.14972	0.754000	0.42855	2.774000	0.47694	0.246000	0.21394	0.563000	0.77884	TGC	FAM65B	-	NULL	ENSG00000111913		0.463	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM65B	HGNC	protein_coding	OTTHUMT00000040024.2	-	0.00	38	0	C			24843223	-1	tier1	-	no_errors	ENST00000259698	ensembl	human	known	74_37	missense	11.90	37	5	SNP	0.883	A
FAM86C1	55199	genome.wustl.edu	37	11	71498636	71498636	+	Silent	SNP	C	C	T	rs34702231		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:71498636C>T	ENST00000359244.4	+	1	77	c.54C>T	c.(52-54)cgC>cgT	p.R18R	FAM86C1_ENST00000426628.2_Silent_p.R18R|FAM86C1_ENST00000346333.6_Silent_p.R18R	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	18										lung(1)	1						GTTTCAAGCGCCGCTTCCTGG	0.746																																																	0													4.0	5.0	5.0					11																	71498636		1983	3755	5738	SO:0001819	synonymous_variant	0			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.54C>T	11.37:g.71498636C>T			Q8N5D3	Silent	SNP	NULL	p.R18	ENST00000359244.4	37	c.54	CCDS41686.1	11																																																																																			FAM86C1	-	NULL	ENSG00000158483		0.746	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM86C1	HGNC	protein_coding	OTTHUMT00000361120.1	-	0.00	62	0	C	NM_152563		71498636	+1	tier1	-	no_errors	ENST00000359244	ensembl	human	known	74_37	silent	6.43	160	11	SNP	0.638	T
FCRL6	343413	genome.wustl.edu	37	1	159779891	159779891	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:159779891A>T	ENST00000368106.3	+	6	895	c.894A>T	c.(892-894)caA>caT	p.Q298H	FCRL6_ENST00000321935.6_Missense_Mutation_p.Q305H|FCRL6_ENST00000392235.3_Missense_Mutation_p.Q203H|FCRL6_ENST00000339348.5_Missense_Mutation_p.Q298H	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	298						external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CAGGTTCTCAAGTCTTGTTCA	0.507																																																	0													150.0	144.0	146.0					1																	159779891		2203	4300	6503	SO:0001583	missense	0			AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.894A>T	1.37:g.159779891A>T	ENSP00000357086:p.Gln298His		A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.Q298H	ENST00000368106.3	37	c.894	CCDS30912.1	1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.532740	0.45073	.	.	ENSG00000181036	ENST00000321935;ENST00000339348;ENST00000392235;ENST00000368106	T;T;T;T	0.01139	5.37;5.28;5.77;5.31	4.17	-4.3	0.03710	.	3.757780	0.01028	N	0.004098	T	0.00440	0.0014	N	0.19112	0.55	0.09310	N	1	P;B;P;P	0.51791	0.948;0.004;0.875;0.924	P;B;B;P	0.47162	0.54;0.008;0.271;0.46	T	0.42189	-0.9466	10	0.44086	T	0.13	.	3.9229	0.09251	0.2919:0.0:0.4199:0.2882	.	298;203;298;305	Q6DN72-3;Q6DN72-4;Q6DN72;Q6DN72-2	.;.;FCRL6_HUMAN;.	H	305;298;203;298	ENSP00000320625:Q305H;ENSP00000340949:Q298H;ENSP00000376068:Q203H;ENSP00000357086:Q298H	ENSP00000320625:Q305H	Q	+	3	2	FCRL6	158046515	0.001000	0.12720	0.000000	0.03702	0.035000	0.12851	0.279000	0.18771	-0.571000	0.06014	0.482000	0.46254	CAA	FCRL6	-	NULL	ENSG00000181036		0.507	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL6	HGNC	protein_coding	OTTHUMT00000276853.1	-	0.00	67	0	A	NM_001004310		159779891	+1	tier1	-	no_errors	ENST00000368106	ensembl	human	known	74_37	missense	22.22	70	20	SNP	0.000	T
FERMT2	10979	genome.wustl.edu	37	14	53324533	53324533	+	3'UTR	SNP	T	T	A	rs558570414		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:53324533T>A	ENST00000395631.2	-	0	2821				FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000341590.3_3'UTR|FERMT2_ENST00000343279.4_3'UTR			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					AACATGCTTATTCAAGGACAA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.*562A>T	14.37:g.53324533T>A			B5TJY2|Q14840|Q86TY7	RNA	SNP	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.348	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2	-	0.00	32	0	T	NM_006832		53324533	-1	tier1	-	no_errors	ENST00000557255	ensembl	human	known	74_37	rna	28.00	18	7	SNP	0.536	A
FLT1	2321	genome.wustl.edu	37	13	28897002	28897002	+	Missense_Mutation	SNP	C	C	T	rs554058758		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:28897002C>T	ENST00000282397.4	-	21	3129	c.2878G>A	c.(2878-2880)Gtc>Atc	p.V960I	FLT1_ENST00000540678.1_Missense_Mutation_p.V178I|FLT1_ENST00000543394.1_5'Flank	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	960	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGCTGGTGACGCTATCTAGT	0.473																																																	0													223.0	196.0	205.0					13																	28897002		2203	4300	6503	SO:0001583	missense	0			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2878G>A	13.37:g.28897002C>T	ENSP00000282397:p.Val960Ile		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt	p.V960I	ENST00000282397.4	37	c.2878	CCDS9330.1	13	.	.	.	.	.	.	.	.	.	.	C	9.527	1.109896	0.20714	.	.	ENSG00000102755	ENST00000282397;ENST00000540678	T;T	0.78481	-0.93;-1.18	5.9	3.29	0.37713	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.347511	0.29587	N	0.011734	T	0.55433	0.1920	N	0.12637	0.245	0.80722	D	1	B	0.30439	0.279	B	0.26094	0.066	T	0.40701	-0.9549	10	0.18276	T	0.48	.	8.7246	0.34460	0.0:0.6543:0.0:0.3457	.	960	P17948	VGFR1_HUMAN	I	960;178	ENSP00000282397:V960I;ENSP00000443311:V178I	ENSP00000282397:V960I	V	-	1	0	FLT1	27795002	0.793000	0.28825	0.636000	0.29352	0.828000	0.46876	1.445000	0.35079	0.433000	0.26313	-0.264000	0.10439	GTC	FLT1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000102755		0.473	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT1	HGNC	protein_coding	OTTHUMT00000044322.1	-	0.00	48	0	C			28897002	-1	tier1	-	no_errors	ENST00000282397	ensembl	human	known	74_37	missense	13.95	37	6	SNP	0.980	T
FMNL3	91010	genome.wustl.edu	37	12	50041075	50041075	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:50041075T>A	ENST00000293590.5	-	24	3088	c.2855A>T	c.(2854-2856)aAg>aTg	p.K952M	FMNL3_ENST00000335154.5_Missense_Mutation_p.K952M|FMNL3_ENST00000550488.1_Missense_Mutation_p.K951M|FMNL3_ENST00000352151.5_Missense_Mutation_p.K901M			Q8IVF7	FMNL3_HUMAN	formin-like 3	952					actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						ATCCAGTTTCTTGGCTTCCTG	0.572																																																	0													88.0	94.0	92.0					12																	50041075		2010	4167	6177	SO:0001583	missense	0			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2855A>T	12.37:g.50041075T>A	ENSP00000293590:p.Lys952Met		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin	p.K952M	ENST00000293590.5	37	c.2855		12	.	.	.	.	.	.	.	.	.	.	T	16.54	3.151401	0.57151	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;D;T	0.82344	-1.47;-1.48;-1.6;-1.47	4.36	4.36	0.52297	Actin-binding FH2/DRF autoregulatory (1);	0.000000	0.85682	D	0.000000	T	0.79633	0.4479	L	0.56769	1.78	0.53688	D	0.999975	B;B;B	0.30584	0.126;0.194;0.286	B;B;B	0.30251	0.113;0.045;0.035	T	0.79541	-0.1761	10	0.48119	T	0.1	.	12.9829	0.58575	0.0:0.0:0.0:1.0	.	901;952;952	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	M	952;951;901;952	ENSP00000335655:K952M;ENSP00000447479:K951M;ENSP00000344311:K901M;ENSP00000293590:K952M	ENSP00000293590:K952M	K	-	2	0	FMNL3	48327342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.822000	0.27352	1.959000	0.56917	0.528000	0.53228	AAG	FMNL3	-	smart_FH2_Formin	ENSG00000161791		0.572	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		-	0.00	57	0	T	NM_175736		50041075	-1	tier1	-	no_errors	ENST00000293590	ensembl	human	known	74_37	missense	10.64	42	5	SNP	1.000	A
FMO3	2328	genome.wustl.edu	37	1	171086394	171086394	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:171086394T>G	ENST00000367755.4	+	9	1522	c.1411T>G	c.(1411-1413)Ttt>Gtt	p.F471V	FMO3_ENST00000538429.1_Missense_Mutation_p.F408V|FMO3_ENST00000392085.2_Missense_Mutation_p.F471V|FMO3_ENST00000542847.1_Missense_Mutation_p.F451V	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	471					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TCCCTACCAGTTTAGGCTGGT	0.557																																																	0													81.0	75.0	77.0					1																	171086394		2203	4300	6503	SO:0001583	missense	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.1411T>G	1.37:g.171086394T>G	ENSP00000356729:p.Phe471Val		B2R816|Q14854|Q8N5N5	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.F471V	ENST00000367755.4	37	c.1411	CCDS1292.1	1	.	.	.	.	.	.	.	.	.	.	T	32	5.171281	0.94807	.	.	ENSG00000007933	ENST00000367755;ENST00000392085;ENST00000542847;ENST00000538429	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.52	5.52	0.82312	.	0.104622	0.64402	D	0.000003	T	0.70281	0.3206	M	0.89904	3.07	0.80722	D	1	D;D;D	0.69078	0.997;0.995;0.963	P;P;P	0.62560	0.904;0.894;0.772	T	0.78658	-0.2118	10	0.87932	D	0	-10.5632	15.3134	0.74053	0.0:0.0:0.0:1.0	.	408;451;471	F5H261;F5GZZ8;P31513	.;.;FMO3_HUMAN	V	471;471;451;408	ENSP00000356729:F471V;ENSP00000375935:F471V;ENSP00000444073:F451V;ENSP00000439500:F408V	ENSP00000356729:F471V	F	+	1	0	FMO3	169353018	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.260000	0.72502	2.076000	0.62316	0.533000	0.62120	TTT	FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase	ENSG00000007933		0.557	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1		0.00	43	0	T	NM_006894		171086394	+1			no_errors	ENST00000367755	ensembl	human	known	74_37	missense	6.98	40	3	SNP	1.000	G
FOCAD	54914	genome.wustl.edu	37	9	20770221	20770221	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:20770221T>G	ENST00000380249.1	+	10	1254	c.890T>G	c.(889-891)gTt>gGt	p.V297G	FOCAD_ENST00000338382.6_Missense_Mutation_p.V297G	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	297						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											GAGCACAGTGTTGAACTTCTG	0.368																																																	0													100.0	101.0	100.0					9																	20770221		2203	4300	6503	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.890T>G	9.37:g.20770221T>G	ENSP00000369599:p.Val297Gly		D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.V297G	ENST00000380249.1	37	c.890	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396175	0.25205	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.07688	3.17;3.17	5.46	2.94	0.34122	.	0.508548	0.21851	N	0.068172	T	0.04724	0.0128	N	0.24115	0.695	0.46609	D	0.999126	B	0.29716	0.255	B	0.22152	0.038	T	0.40590	-0.9555	10	0.72032	D	0.01	-1.0974	3.1103	0.06356	0.1415:0.0753:0.148:0.6351	.	297	Q5VW36	K1797_HUMAN	G	297	ENSP00000369599:V297G;ENSP00000344307:V297G	ENSP00000344307:V297G	V	+	2	0	KIAA1797	20760221	0.839000	0.29477	0.942000	0.38095	0.840000	0.47671	0.871000	0.28023	0.878000	0.35920	0.459000	0.35465	GTT	FOCAD	-	NULL	ENSG00000188352		0.368	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	-	0.00	63	0	T	NM_017794		20770221	+1	tier1	-	no_errors	ENST00000338382	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.928	G
FOXR1	283150	genome.wustl.edu	37	11	118850229	118850229	+	Silent	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:118850229C>A	ENST00000317011.3	+	4	687	c.462C>A	c.(460-462)ccC>ccA	p.P154P		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	154					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		AAAGGGCCCCCCTCCAGAGTC	0.597																																																	0													43.0	47.0	46.0					11																	118850229		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.462C>A	11.37:g.118850229C>A			B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Missense_Mutation	SNP	NULL	p.P131T	ENST00000317011.3	37	c.391	CCDS31688.1	11																																																																																			FOXR1	-	NULL	ENSG00000176302		0.597	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR1	HGNC	protein_coding	OTTHUMT00000389312.1	-	0.00	49	0	C	NM_181721		118850229	+1	tier1	-	no_errors	ENST00000531539	ensembl	human	known	74_37	missense	12.50	35	5	SNP	0.996	A
FOXRED2	80020	genome.wustl.edu	37	22	36886088	36886088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:36886088delA	ENST00000397224.4	-	9	2115	c.2022delT	c.(2020-2022)gctfs	p.A674fs	FOXRED2_ENST00000366463.3_Frame_Shift_Del_p.A226fs|FOXRED2_ENST00000397223.4_Frame_Shift_Del_p.A674fs|FOXRED2_ENST00000216187.6_Frame_Shift_Del_p.A674fs	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	674					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CGACGGACTGAGCCAGAGGCC	0.642																																																	0													32.0	34.0	34.0					22																	36886088		2203	4300	6503	SO:0001589	frameshift_variant	0			BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.2022delT	22.37:g.36886088delA	ENSP00000380401:p.Ala674fs		B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Frame_Shift_Del	DEL	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.Q675fs	ENST00000397224.4	37	c.2022	CCDS13929.1	22																																																																																			FOXRED2	-	NULL	ENSG00000100350		0.642	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED2	HGNC	protein_coding	OTTHUMT00000104098.2		0.00	134	0	A	NM_024955		36886088	-1	tier1		no_errors	ENST00000216187	ensembl	human	known	74_37	frame_shift_del	19.67	98	24	DEL	0.000	-
FTH1P3	2498	genome.wustl.edu	37	5	17354477	17354477	+	lincRNA	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:17354477G>A	ENST00000511821.1	+	0	336				FTH1P10_ENST00000401830.3_RNA																							GGTTGATGGCGGCCTTTAGTC	0.587																																																	0																																												0																															5.37:g.17354477G>A				RNA	SNP	-	NULL	ENST00000511821.1	37	NULL		5																																																																																			FTH1P10	-	-	ENSG00000223361		0.587	CTD-2139B15.2-001	KNOWN	basic	lincRNA	FTH1P10	HGNC	lincRNA	OTTHUMT00000366261.1	-	0.00	103	0	G			17354477	-1	tier1	-	no_errors	ENST00000401830	ensembl	human	known	74_37	rna	20.45	105	27	SNP	0.999	A
GAGE10	643832	genome.wustl.edu	37	X	49161348	49161348	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:49161348C>T	ENST00000407599.3	+	2	103	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	4										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					TATGAGTTGGCGAGGAAGATC	0.453																																																	0													197.0	199.0	198.0					X																	49161348		2203	4300	6503	SO:0001587	stop_gained	0					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.10C>T	X.37:g.49161348C>T	ENSP00000385415:p.Arg4*			Nonsense_Mutation	SNP	pfam_GAGE	p.R4*	ENST00000407599.3	37	c.10	CCDS43938.1	X	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089421	0.36855	.	.	ENSG00000215274	ENST00000407599	.	.	.	1.2	-2.41	0.06562	.	.	.	.	.	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.2483	0.01977	0.1988:0.4176:0.1981:0.1855	.	.	.	.	X	4	.	ENSP00000385415:R4X	R	+	1	2	GAGE10	49048292	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.978000	0.03778	-2.160000	0.00786	-0.810000	0.03169	CGA	GAGE10	-	pfam_GAGE	ENSG00000215274		0.453	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	-	0.00	251	0	C	NM_001098413		49161348	+1	tier1	-	no_errors	ENST00000407599	ensembl	human	known	74_37	nonsense	27.27	160	60	SNP	0.000	T
GALNT9	50614	genome.wustl.edu	37	12	132811455	132811455	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:132811455G>A	ENST00000535228.1	-	3	296	c.233C>T	c.(232-234)aCg>aTg	p.T78M	GALNT9_ENST00000328957.8_Intron			Q9HCQ5	GALT9_HUMAN	polypeptide N-acetylgalactosaminyltransferase 9	0					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		GGCTCCGTGCGTGGCCCCGGG	0.632																																					Colon(186;2147 2752 13553 41466)												0																																										SO:0001583	missense	0			AB040672	CCDS41866.1	12q24.33	2014-03-13	2014-03-13		ENSG00000182870	ENSG00000182870	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4131	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 9"""	606251	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)"""			10978536, 12407114	Standard	NM_021808		Approved	GALNAC-T9	uc001ukc.4	Q9HCQ5	OTTHUMG00000168256	ENST00000535228.1:c.233C>T	12.37:g.132811455G>A	ENSP00000439745:p.Thr78Met		Q52LR8|Q6NT54|Q8NFR1	Missense_Mutation	SNP	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.T78M	ENST00000535228.1	37	c.233		12	.	.	.	.	.	.	.	.	.	.	g	5.942	0.357893	0.11239	.	.	ENSG00000182870	ENST00000535228	T	0.79141	-1.24	0.655	0.655	0.17839	.	.	.	.	.	T	0.48995	0.1531	.	.	.	0.09310	N	1	P	0.46457	0.878	B	0.24006	0.05	T	0.39333	-0.9619	7	0.19147	T	0.46	.	.	.	.	.	78	B3KNR7	.	M	78	ENSP00000439745:T78M	ENSP00000439745:T78M	T	-	2	0	GALNT9	131321528	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-2.101000	0.01344	0.645000	0.30675	0.164000	0.16699	ACG	GALNT9	-	NULL	ENSG00000182870		0.632	GALNT9-201	KNOWN	basic	protein_coding	GALNT9	HGNC	protein_coding		-	0.00	72	0	G	NM_001122636		132811455	-1	tier1	-	no_errors	ENST00000535228	ensembl	human	known	74_37	missense	54.72	24	29	SNP	0.001	A
GLTSCR1	29998	genome.wustl.edu	37	19	48197738	48197738	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:48197738A>C	ENST00000396720.3	+	8	2844	c.2650A>C	c.(2650-2652)Acc>Ccc	p.T884P	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	884										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		TCCATCCTCCACCTCCTCTGC	0.726																																																	0													15.0	15.0	15.0					19																	48197738		1917	4097	6014	SO:0001583	missense	0			AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2650A>C	19.37:g.48197738A>C	ENSP00000379946:p.Thr884Pro		A8MW01	Missense_Mutation	SNP	NULL	p.T884P	ENST00000396720.3	37	c.2650	CCDS46134.1	19	.	.	.	.	.	.	.	.	.	.	a	2.191	-0.385362	0.04966	.	.	ENSG00000063169	ENST00000396720	T	0.32272	1.46	2.71	2.71	0.32032	.	.	.	.	.	T	0.19208	0.0461	N	0.19112	0.55	0.09310	N	1	P	0.39809	0.689	B	0.41271	0.352	T	0.09058	-1.0692	9	0.23891	T	0.37	.	6.4235	0.21756	0.8649:0.0:0.1351:0.0	.	884	Q9NZM4	GSCR1_HUMAN	P	884	ENSP00000379946:T884P	ENSP00000379946:T884P	T	+	1	0	GLTSCR1	52889550	0.956000	0.32656	0.893000	0.35052	0.280000	0.26924	1.693000	0.37742	1.214000	0.43395	0.228000	0.17796	ACC	GLTSCR1	-	NULL	ENSG00000063169		0.726	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLTSCR1	HGNC	protein_coding	OTTHUMT00000465846.1	-	0.00	50	0	A	NM_015711		48197738	+1	tier1	-	no_errors	ENST00000396720	ensembl	human	known	74_37	missense	14.63	35	6	SNP	0.055	C
GNAS	2778	genome.wustl.edu	37	20	57429277	57429277	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:57429277C>T	ENST00000306120.3	+	1	767	c.767C>T	c.(766-768)aCg>aTg	p.T256M	GNAS_ENST00000371100.4_Silent_p.D319D|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Silent_p.D319D|GNAS_ENST00000371102.4_Silent_p.D319D			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTGGGGTCGACGACACTCCCG	0.642			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													19.0	24.0	23.0					20																	57429277		1901	4102	6003	SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000306120.3:c.767C>T	20.37:g.57429277C>T	ENSP00000302237:p.Thr256Met		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.T256M	ENST00000306120.3	37	c.767		20	.	.	.	.	.	.	.	.	.	.	C	16.02	3.004042	0.54254	.	.	ENSG00000087460	ENST00000306120	.	.	.	3.76	2.82	0.32997	.	.	.	.	.	T	0.57533	0.2060	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56135	-0.8029	5	0.46703	T	0.11	.	6.144	0.20275	0.0:0.7698:0.0:0.2302	.	.	.	.	M	256	.	ENSP00000302237:T256M	T	+	2	0	GNAS	56862672	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.599000	0.36751	1.169000	0.42739	0.462000	0.41574	ACG	GNAS	-	NULL	ENSG00000087460		0.642	GNAS-050	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267987.1		0.00	17	0	C	NM_000516		57429277	+1			no_errors	ENST00000306120	ensembl	human	putative	74_37	missense	30.00	14	6	SNP	1.000	T
GPN1	11321	genome.wustl.edu	37	2	27861756	27861756	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:27861756A>C	ENST00000610189.1	+	9	582	c.575A>C	c.(574-576)gAc>gCc	p.D192A	GPN1_ENST00000424214.1_Missense_Mutation_p.D113A|GPN1_ENST00000407583.3_Missense_Mutation_p.D180A|GPN1_ENST00000458167.2_Missense_Mutation_p.D97A|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.D113A|GPN1_ENST00000503738.1_Missense_Mutation_p.D97A|GPN1_ENST00000264718.3_Missense_Mutation_p.D206A	NM_007266.3	NP_009197.2			GPN-loop GTPase 1											endometrium(1)|large_intestine(1)|lung(12)	14						GTACAGACTGACATCATTGAC	0.403																																																	0													110.0	97.0	102.0					2																	27861756		2203	4300	6503	SO:0001583	missense	0			AB044661	CCDS1760.2, CCDS46248.1, CCDS46249.1, CCDS46250.1	2p23.3	2011-11-04	2008-04-30	2008-04-30	ENSG00000198522	ENSG00000198522		"""GPN-loop GTPases"""	17030	protein-coding gene	gene with protein product	"""RNA polymerase II associated protein 4"""	611479	"""XPA binding protein 1"", ""XPA binding protein 1, GTPase"""	XAB1		11058119, 11124703	Standard	NM_007266		Approved	NTPBP, MBDIN, ATPBD1A, RPAP4	uc010ymc.2	Q9HCN4	OTTHUMG00000097784	ENST00000610189.1:c.575A>C	2.37:g.27861756A>C	ENSP00000476446:p.Asp192Ala			Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D206A	ENST00000610189.1	37	c.617		2	.	.	.	.	.	.	.	.	.	.	A	27.2	4.805824	0.90623	.	.	ENSG00000198522	ENST00000515877;ENST00000503738;ENST00000458167;ENST00000424214;ENST00000407583;ENST00000264718	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	H	0.97365	3.99	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.996	D	0.86355	0.1713	10	0.87932	D	0	-13.5629	13.6087	0.62063	1.0:0.0:0.0:0.0	.	192;206;97;180	Q9HCN4;B4DQM4;B4DXU4;B5MBZ5	GPN1_HUMAN;.;.;.	A	113;97;97;113;180;206	ENSP00000424678:D113A;ENSP00000427269:D97A;ENSP00000412170:D97A;ENSP00000398115:D113A;ENSP00000384255:D180A;ENSP00000264718:D206A	ENSP00000264718:D206A	D	+	2	0	GPN1	27715260	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.604000	0.90877	2.238000	0.73509	0.533000	0.62120	GAC	GPN1	-	pfam_Uncharacterised_ATP-bd,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000198522		0.403	GPN1-010	KNOWN	basic|appris_principal	protein_coding	GPN1	HGNC	protein_coding	OTTHUMT00000473126.1		0.00	39	0	A	NM_007266		27861756	+1			no_errors	ENST00000264718	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	C
GPR15	2838	genome.wustl.edu	37	3	98251956	98251956	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:98251956T>C	ENST00000284311.3	+	1	1214	c.1079T>C	c.(1078-1080)cTc>cCc	p.L360P		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	360					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TCTGTGTCACTCTAAAGGGAA	0.438																																																	0													49.0	51.0	51.0					3																	98251956		2202	4300	6502	SO:0001583	missense	0				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.1079T>C	3.37:g.98251956T>C	ENSP00000284311:p.Leu360Pro		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.L360P	ENST00000284311.3	37	c.1079	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099408	0.37048	.	.	ENSG00000154165	ENST00000284311	T	0.69561	-0.41	5.08	5.08	0.68730	.	0.000000	0.44097	D	0.000486	T	0.62208	0.2409	N	0.24115	0.695	0.58432	D	0.999998	P	0.51791	0.948	P	0.52267	0.694	T	0.66976	-0.5787	10	0.87932	D	0	.	11.4276	0.50020	0.0:0.0:0.0:1.0	.	360	P49685	GPR15_HUMAN	P	360	ENSP00000284311:L360P	ENSP00000284311:L360P	L	+	2	0	GPR15	99734646	1.000000	0.71417	0.999000	0.59377	0.319000	0.28217	3.419000	0.52728	2.263000	0.75096	0.533000	0.62120	CTC	GPR15	-	NULL	ENSG00000154165		0.438	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1		0.00	39	0	T			98251956	+1			no_errors	ENST00000284311	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C
GRIN2C	2905	genome.wustl.edu	37	17	72843625	72843625	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:72843625G>A	ENST00000293190.5	-	9	1969	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	GRIN2C_ENST00000347612.4_Missense_Mutation_p.A608V	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	608					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GAAGACCAGCGCCCACAGCAG	0.627																																																	0													41.0	39.0	40.0					17																	72843625		2203	4300	6503	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1823C>T	17.37:g.72843625G>A	ENSP00000293190:p.Ala608Val		B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A608V	ENST00000293190.5	37	c.1823	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571988	0.45798	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.57907	0.37	4.29	4.29	0.51040	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.062031	0.64402	D	0.000005	T	0.72011	0.3408	M	0.74467	2.265	0.52501	D	0.999951	D;D	0.89917	0.999;1.0	D;D	0.72338	0.97;0.977	T	0.77021	-0.2742	10	0.87932	D	0	.	16.89	0.86084	0.0:0.0:1.0:0.0	.	642;608	Q8IW23;Q14957	.;NMDE3_HUMAN	V	608;642	ENSP00000293190:A608V	ENSP00000293190:A608V	A	-	2	0	GRIN2C	70355220	1.000000	0.71417	0.970000	0.41538	0.956000	0.61745	6.750000	0.74888	2.357000	0.79964	0.561000	0.74099	GCG	GRIN2C	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000161509		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	-	0.00	98	0	G			72843625	-1	tier1	-	no_errors	ENST00000293190	ensembl	human	known	74_37	missense	49.30	71	70	SNP	0.996	A
GRM1	2911	genome.wustl.edu	37	6	146351241	146351241	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:146351241T>G	ENST00000282753.1	+	1	823	c.588T>G	c.(586-588)acT>acG	p.T196T	GRM1_ENST00000355289.4_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000392299.2_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T|GRM1_ENST00000361719.2_Silent_p.T196T			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	196					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GTGACAAAACTTTGTACAAAT	0.493																																																	0													91.0	93.0	93.0					6																	146351241		2203	4300	6503	SO:0001819	synonymous_variant	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.588T>G	6.37:g.146351241T>G			B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.T196	ENST00000282753.1	37	c.588	CCDS5209.1	6																																																																																			GRM1	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3	ENSG00000152822		0.493	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	30	0	T	NM_000838		146351241	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	silent	16.67	45	9	SNP	1.000	G
GRN	2896	genome.wustl.edu	37	17	42427872	42427872	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:42427872C>T	ENST00000053867.3	+	6	587	c.525C>T	c.(523-525)caC>caT	p.H175H	GRN_ENST00000589265.1_Intron	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	175					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ACCTGGTTCACACCCGCTGCA	0.617											OREG0024459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													116.0	110.0	112.0					17																	42427872		2203	4300	6503	SO:0001819	synonymous_variant	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.525C>T	17.37:g.42427872C>T		908	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.H169Y	ENST00000053867.3	37	c.505	CCDS11483.1	17																																																																																			GRN	-	NULL	ENSG00000030582		0.617	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	-	0.00	44	0	C	NM_002087		42427872	+1	tier1	-	no_errors	ENST00000586782	ensembl	human	known	74_37	missense	44.90	27	22	SNP	0.000	T
HEG1	57493	genome.wustl.edu	37	3	124739730	124739730	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:124739730T>C	ENST00000311127.4	-	4	1225	c.1158A>G	c.(1156-1158)agA>agG	p.R386R	HEG1_ENST00000477536.1_5'Flank	NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	386					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCCCAGTTACTCTACTGTTTC	0.458																																																	0													92.0	94.0	93.0					3																	124739730		1917	4121	6038	SO:0001819	synonymous_variant	0			AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.1158A>G	3.37:g.124739730T>C			Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.R386	ENST00000311127.4	37	c.1158	CCDS46898.1	3																																																																																			HEG1	-	NULL	ENSG00000173706		0.458	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEG1	HGNC	protein_coding	OTTHUMT00000355732.2	-	0.00	52	0	T	XM_087386		124739730	-1	tier1	-	no_errors	ENST00000311127	ensembl	human	known	74_37	silent	24.49	37	12	SNP	0.000	C
HIST1H2AK	8330	genome.wustl.edu	37	6	27805943	27805943	+	Missense_Mutation	SNP	G	G	C	rs144042626		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:27805943G>C	ENST00000330180.2	-	1	174	c.175C>G	c.(175-177)Cta>Gta	p.L59V	HIST1H2BN_ENST00000396980.3_5'Flank|HIST1H2BN_ENST00000606613.1_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCGGCGGTTAGGTACTCCAAC	0.667																																																	0								G	VAL/LEU	1,4405		0,1,2202	56.0	60.0	59.0		175	4.4	1.0	6	dbSNP_134	59	0,8600		0,0,4300	no	missense	HIST1H2AK	NM_003510.2	32	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging	59/131	27805943	1,13005	2203	4300	6503	SO:0001583	missense	0			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.175C>G	6.37:g.27805943G>C	ENSP00000330307:p.Leu59Val		P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L59V	ENST00000330180.2	37	c.175	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	21.3	4.130422	0.77549	2.27E-4	0.0	ENSG00000184348	ENST00000330180	T	0.71103	-0.54	4.41	4.41	0.53225	.	0.000000	0.25991	U	0.027006	T	0.78272	0.4257	.	.	.	0.38833	D	0.955884	.	.	.	.	.	.	T	0.82057	-0.0646	7	0.87932	D	0	.	16.8673	0.86033	0.0:0.0:1.0:0.0	.	.	.	.	V	59	ENSP00000330307:L59V	ENSP00000330307:L59V	L	-	1	2	HIST1H2AK	27913922	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.218000	0.65257	2.365000	0.80145	0.650000	0.86243	CTA	HIST1H2AK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184348		0.667	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	-	0.00	119	0	G	NM_003510		27805943	-1	tier1	rs144042626	no_errors	ENST00000330180	ensembl	human	known	74_37	missense	16.30	113	22	SNP	1.000	C
HIST1H3J	8356	genome.wustl.edu	37	6	27858512	27858512	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:27858512T>A	ENST00000359303.2	-	1	58	c.59A>T	c.(58-60)cAg>cTg	p.Q20L	HIST1H2BO_ENST00000303806.4_5'Flank|HIST1H3J_ENST00000479986.1_5'UTR	NM_003535.2	NP_003526.1	P68431	H31_HUMAN	histone cluster 1, H3j	20					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						GGTGGCCAGCTGCTTCCGCGG	0.627																																																	0													29.0	34.0	32.0					6																	27858512		2203	4299	6502	SO:0001583	missense	0			Z83737	CCDS4638.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197153	ENSG00000197153		"""Histones / Replication-dependent"""	4774	protein-coding gene	gene with protein product		602817	"""H3 histone family, member J"", ""histone 1, H3j"""	H3FJ		9439656, 12408966	Standard	NM_003535		Approved	H3/j	uc003nka.3	P68431	OTTHUMG00000016185	ENST00000359303.2:c.59A>T	6.37:g.27858512T>A	ENSP00000352252:p.Gln20Leu		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.Q20L	ENST00000359303.2	37	c.59	CCDS4638.1	6	.	.	.	.	.	.	.	.	.	.	T	12.26	1.884223	0.33255	.	.	ENSG00000197153	ENST00000359303	T	0.46819	0.86	4.06	2.9	0.33743	.	.	.	.	.	T	0.43964	0.1271	.	.	.	0.40751	D	0.982918	.	.	.	.	.	.	T	0.48151	-0.9060	6	0.72032	D	0.01	.	9.0248	0.36222	0.0:0.0909:0.0:0.9091	.	.	.	.	L	20	ENSP00000352252:Q20L	ENSP00000352252:Q20L	Q	-	2	0	HIST1H3J	27966491	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.496000	0.81526	0.911000	0.36747	-0.256000	0.11100	CAG	HIST1H3J	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000197153		0.627	HIST1H3J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3J	HGNC	protein_coding	OTTHUMT00000043453.2		0.00	70	0	T	NM_003535		27858512	-1			no_errors	ENST00000359303	ensembl	human	known	74_37	missense	6.78	55	4	SNP	1.000	A
HLA-DQB1	3119	genome.wustl.edu	37	6	32628221	32628221	+	Intron	SNP	G	G	A	rs9273491	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:32628221G>A	ENST00000399082.3	-	3	436				HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000434651.2_Intron|HLA-DQB1_ENST00000460185.1_5'Flank|HLA-DQB1_ENST00000399084.1_Intron|HLA-DQB1-AS1_ENST00000419852.1_RNA|HLA-DQB1_ENST00000374943.4_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|immune response (GO:0006955)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					"""""""Insulin(DB00071)"""	TGATGCAGATGTGTGGGAGGT	0.473									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				.|||	622	0.124201	0.0976	0.2507	5008	,	,		17546	0.1091		0.1392	False		,,,				2504	0.0706				Esophageal Squamous(151;720 1825 15000 40336 43415)												0																																										SO:0001627	intron_variant	0	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;Sjogren syndrome; ;AIMAH, Cushing disease, Adrenal, Familial		CCDS43451.1, CCDS59006.1	6p21.3	2013-01-11			ENSG00000179344	ENSG00000179344		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4944	protein-coding gene	gene with protein product		604305		HLA-DQB			Standard	NM_001243962		Approved	IDDM1, CELIAC1	uc031snw.1	P01920	OTTHUMG00000031124	ENST00000399082.3:c.392-195C>T	6.37:g.32628221G>A			A1KR27|A2RPH3|A4Q9R4|A4USG2|A4USG5|A6N8I7|A9YQA0|B0S7Y7|B1A0K6|B1GXI3|B3VLT3|B5BLN7|B7VU69|C0MQ34|C0MQ35|C8ZL52|C8ZLJ8|C8ZLJ9|C9DRQ3|O19708|O19713|O19724|O62861|O78046|O78221|O78223|O98034|O98201|P01917|P01918|P01919|P03992|P05537|P79482|P79526|P79544|P79551|Q08GC8|Q09035|Q0E4V9|Q1M312|Q29731|Q29877|Q29884|Q29915|Q29966|Q2P9N3|Q2QK85|Q30061|Q30075|Q30076|Q30080|Q30081|Q30082|Q30083|Q30084|Q30089|Q30095|Q31633|Q38I47|Q45UE3|Q4QZB5|Q53I44|Q564J6|Q5G841|Q5ISH1|Q5ISH3|Q5W1E1|Q5Y7G8|Q643R4|Q6B9X1|Q70VH8|Q7YP69|Q8HWH0|Q8MH58|Q8SNB4|Q8SND1|Q8SP70|Q8WMA3|Q9BD17|Q9MYH2|Q9TPA9|Q9XRY6|Q9XRY7|Q9XRZ2	RNA	SNP	-	NULL	ENST00000399082.3	37	NULL		6																																																																																			HLA-DQB1-AS1	-	-	ENSG00000223534		0.473	HLA-DQB1-007	NOVEL	basic|exp_conf	protein_coding	HLA-DQB1-AS1	HGNC	protein_coding	OTTHUMT00000276131.1	-	0.00	9	0	G	NM_002123		32628221	+1	tier1	rs9273491	no_errors	ENST00000419852	ensembl	human	known	74_37	rna	44.44	5	4	SNP	0.000	A
HNRNPDL	9987	genome.wustl.edu	37	4	83347753	83347753	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:83347753T>G	ENST00000295470.5	-	6	1230	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	HNRNPDL_ENST00000502762.1_Missense_Mutation_p.N352T|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.N233T|HNRNPDL_ENST00000514511.1_5'UTR|HNRNPDL_ENST00000349655.4_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	352	Gly-rich.|Necessary for interaction with TNPO1.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										ATCATAATAGTTATTAAATCC	0.378																																																	0													107.0	102.0	103.0					4																	83347753		2203	4300	6503	SO:0001583	missense	0			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.1055A>C	4.37:g.83347753T>G	ENSP00000295470:p.Asn352Thr		Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.N352T	ENST00000295470.5	37	c.1055	CCDS3593.1	4	.	.	.	.	.	.	.	.	.	.	t	18.13	3.555103	0.65425	.	.	ENSG00000152795	ENST00000295470;ENST00000502762	D;D	0.87179	-2.22;-2.22	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.93314	0.7869	M	0.79926	2.475	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	D	0.93676	0.6994	10	0.56958	D	0.05	.	16.3305	0.83010	0.0:0.0:0.0:1.0	.	352	O14979	HNRDL_HUMAN	T	352	ENSP00000295470:N352T;ENSP00000422040:N352T	ENSP00000295470:N352T	N	-	2	0	HNRPDL	83566777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.927000	0.70080	2.317000	0.78254	0.459000	0.35465	AAC	HNRNPDL	-	NULL	ENSG00000152795		0.378	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPDL	HGNC	protein_coding	OTTHUMT00000252644.1		0.00	43	0	T	NM_005463		83347753	-1			no_errors	ENST00000295470	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	G
HSPA1B	3304	genome.wustl.edu	37	6	31797421	31797421	+	Missense_Mutation	SNP	C	C	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:31797421C>G	ENST00000375650.3	+	1	1910	c.1694C>G	c.(1693-1695)gCg>gGg	p.A565G	HSPA1B_ENST00000545241.1_Missense_Mutation_p.A474G	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	565					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						ATCAGCGAGGCGGACAAGAAG	0.582																																																	0													91.0	60.0	70.0					6																	31797421		1903	3933	5836	SO:0001583	missense	0				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.1694C>G	6.37:g.31797421C>G	ENSP00000364801:p.Ala565Gly		B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.A565G	ENST00000375650.3	37	c.1694	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	7.498	0.652032	0.14580	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241	T;T	0.14022	2.54;2.54	4.38	2.43	0.29744	.	0.246457	0.21758	N	0.069569	T	0.07188	0.0182	.	.	.	0.27837	N	0.941238	.	.	.	.	.	.	T	0.11616	-1.0580	7	0.54805	T	0.06	-6.5388	6.6964	0.23201	0.1779:0.4965:0.3256:0.0	.	.	.	.	G	632;565;548;474	ENSP00000364801:A565G;ENSP00000442789:A474G	ENSP00000364801:A565G	A	+	2	0	HSPA1B	31905400	0.719000	0.27986	0.928000	0.36995	0.457000	0.32468	1.789000	0.38724	2.138000	0.66242	0.467000	0.42956	GCG	HSPA1B	-	pfam_Hsp_70_fam	ENSG00000204388		0.582	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	-	0.00	71	0	C			31797421	+1	tier1	-	no_errors	ENST00000375650	ensembl	human	known	74_37	missense	11.11	48	6	SNP	0.635	G
HTR3E	285242	genome.wustl.edu	37	3	183824434	183824434	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:183824434T>G	ENST00000415389.2	+	9	1790	c.1324T>G	c.(1324-1326)Ttc>Gtc	p.F442V	HTR3E_ENST00000440596.2_Missense_Mutation_p.F468V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000436361.2_Missense_Mutation_p.F442V|HTR3E_ENST00000335304.2_Missense_Mutation_p.F457V|HTR3E_ENST00000425359.2_Missense_Mutation_p.F427V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	442					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	CTACCTGCTCTTCATGGCCTC	0.592																																					Melanoma(7;227 727 6634 44770)												0													187.0	166.0	173.0					3																	183824434		2203	4300	6503	SO:0001583	missense	0			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.1324T>G	3.37:g.183824434T>G	ENSP00000401444:p.Phe442Val		A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.F457V	ENST00000415389.2	37	c.1369	CCDS58868.1	3	.	.	.	.	.	.	.	.	.	.	t	12.40	1.925722	0.34002	.	.	ENSG00000186038	ENST00000415389;ENST00000425359;ENST00000335304;ENST00000436361;ENST00000440596	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	3.7	2.53	0.30540	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.53938	U	0.000041	D	0.84857	0.5565	L	0.60012	1.86	0.09310	N	1	B;D;D;D;D	0.71674	0.137;0.998;0.998;0.998;0.995	B;D;D;D;D	0.70487	0.068;0.968;0.969;0.969;0.928	T	0.72593	-0.4246	10	0.20519	T	0.43	.	5.6	0.17349	0.0:0.1277:0.0:0.8723	.	468;442;442;457;427	E9PGF1;A5X5Y0;A5X5Y0-4;A5X5Y0-3;A5X5Y0-2	.;5HT3E_HUMAN;.;.;.	V	442;427;457;442;468	ENSP00000401444:F442V;ENSP00000401900:F427V;ENSP00000335511:F457V;ENSP00000395833:F442V;ENSP00000406050:F468V	ENSP00000335511:F457V	F	+	1	0	HTR3E	185307128	0.001000	0.12720	0.978000	0.43139	0.969000	0.65631	-0.082000	0.11304	0.585000	0.29608	0.533000	0.62120	TTC	HTR3E	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000186038		0.592	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	-	0.00	79	0	T	NM_182589		183824434	+1	tier1	-	no_errors	ENST00000335304	ensembl	human	known	74_37	missense	7.22	90	7	SNP	0.369	G
HYDIN	54768	genome.wustl.edu	37	16	70874051	70874051	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:70874051A>G	ENST00000393567.2	-	76	13109	c.12959T>C	c.(12958-12960)tTt>tCt	p.F4320S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4320					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGGTCCCAAAGTTGTAGCT	0.478																																																	0													3.0	4.0	4.0					16																	70874051		1402	3622	5024	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12959T>C	16.37:g.70874051A>G	ENSP00000377197:p.Phe4320Ser		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.F4320S	ENST00000393567.2	37	c.12959	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459318	0.84317	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.05580	3.42	5.59	5.59	0.84812	.	0.000000	0.34223	U	0.004151	T	0.28699	0.0711	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03259	-1.1055	10	0.87932	D	0	.	15.4132	0.74943	1.0:0.0:0.0:0.0	.	4319	F8WD23	.	S	4320;4319	ENSP00000377197:F4320S	ENSP00000313052:F4319S	F	-	2	0	HYDIN	69431552	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.003000	0.88520	2.127000	0.65507	0.413000	0.27773	TTT	HYDIN	-	NULL	ENSG00000157423		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0.00	50	0	A			70874051	-1	tier1	-	no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	15.09	45	8	SNP	1.000	G
IGDCC3	9543	genome.wustl.edu	37	15	65623958	65623958	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:65623958G>A	ENST00000327987.4	-	8	1439	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	396	Ig-like C2-type 4.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACTGATAAATGGCTTCATCCT	0.607																																																	0													39.0	37.0	38.0					15																	65623958		2201	4299	6500	SO:0001819	synonymous_variant	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1188C>T	15.37:g.65623958G>A			O95215	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A396	ENST00000327987.4	37	c.1188	CCDS10205.1	15																																																																																			IGDCC3	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000174498		0.607	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	-	0.00	41	0	G	NM_004884		65623958	-1	tier1	-	no_errors	ENST00000327987	ensembl	human	known	74_37	silent	29.27	29	12	SNP	1.000	A
IGSF10	285313	genome.wustl.edu	37	3	151164487	151164487	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:151164487A>G	ENST00000282466.3	-	4	3281	c.3282T>C	c.(3280-3282)atT>atC	p.I1094I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1094					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGACTCTAGCAATGTCAGCTT	0.468																																																	0													139.0	142.0	141.0					3																	151164487		2203	4300	6503	SO:0001819	synonymous_variant	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3282T>C	3.37:g.151164487A>G			Q86YJ9|Q8N772|Q8NA84	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.I1094	ENST00000282466.3	37	c.3282	CCDS3160.1	3																																																																																			IGSF10	-	NULL	ENSG00000152580		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	-	0.00	58	0	A	NM_178822		151164487	-1	tier1	-	no_errors	ENST00000282466	ensembl	human	known	74_37	silent	10.61	59	7	SNP	0.000	G
IGSF9	57549	genome.wustl.edu	37	1	159898628	159898628	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:159898628G>A	ENST00000368094.1	-	19	2747	c.2550C>T	c.(2548-2550)gaC>gaT	p.D850D	IGSF9_ENST00000361509.3_Silent_p.D834D|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	850	Pro-rich.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CAAAGCGCCCGTCTGGGCCCC	0.697																																																	0													6.0	7.0	6.0					1																	159898628		2142	4223	6365	SO:0001819	synonymous_variant	0			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.2550C>T	1.37:g.159898628G>A				Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D850	ENST00000368094.1	37	c.2550	CCDS44254.1	1																																																																																			IGSF9	-	NULL	ENSG00000085552		0.697	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1		0.00	11	0	G	NM_020789		159898628	-1			no_errors	ENST00000368094	ensembl	human	known	74_37	silent	18.75	13	3	SNP	1.000	A
IKZF2	22807	genome.wustl.edu	37	2	213872531	213872531	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:213872531G>T	ENST00000434687.1	-	9	1443	c.1134C>A	c.(1132-1134)aaC>aaA	p.N378K	IKZF2_ENST00000374319.4_Missense_Mutation_p.N352K|IKZF2_ENST00000421754.2_Missense_Mutation_p.N304K|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000342002.2_Missense_Mutation_p.N384K|IKZF2_ENST00000457361.1_Missense_Mutation_p.N378K|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000451136.2_Missense_Mutation_p.N306K|IKZF2_ENST00000374327.4_Missense_Mutation_p.N233K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	378					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATCCATGTTGTTTTCATGAC	0.478																																																	0													101.0	91.0	94.0					2																	213872531		2203	4300	6503	SO:0001583	missense	0			AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.1134C>A	2.37:g.213872531G>T	ENSP00000412869:p.Asn378Lys		Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N378K	ENST00000434687.1	37	c.1134	CCDS2395.1	2	.	.	.	.	.	.	.	.	.	.	G	10.70	1.425224	0.25639	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000374327;ENST00000542010	T;T;T;T;T;T;T	0.12879	3.39;3.36;3.39;3.43;3.38;3.43;2.64	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.36771	0.0979	M	0.70595	2.14	0.80722	D	1	D;D;D;P;D;D	0.89917	0.998;0.998;1.0;0.611;0.999;0.969	D;D;D;B;D;P	0.87578	0.969;0.994;0.998;0.343;0.993;0.687	T	0.01988	-1.1234	10	0.62326	D	0.03	-5.3403	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	306;304;233;352;378;156	C9JCG7;C9JTM9;F5H8M1;Q9UKS7-2;Q9UKS7;Q96LD7	.;.;.;.;IKZF2_HUMAN;.	K	378;384;378;352;306;304;233;82	ENSP00000410447:N378K;ENSP00000342876:N384K;ENSP00000412869:N378K;ENSP00000363439:N352K;ENSP00000395203:N306K;ENSP00000399574:N304K;ENSP00000363447:N233K	ENSP00000342876:N384K	N	-	3	2	IKZF2	213580776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.464000	0.73534	2.894000	0.99253	0.655000	0.94253	AAC	IKZF2	-	NULL	ENSG00000030419		0.478	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IKZF2	HGNC	protein_coding	OTTHUMT00000256593.3	-	0.00	44	0	G	NM_016260		213872531	-1	tier1	-	no_errors	ENST00000434687	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	T
IMPG2	50939	genome.wustl.edu	37	3	100976579	100976579	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:100976579T>C	ENST00000193391.7	-	10	1134	c.947A>G	c.(946-948)gAg>gGg	p.E316G		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	316	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GCTGATGGCCTCACCATTGAA	0.453																																																	0													151.0	138.0	142.0					3																	100976579		2203	4300	6503	SO:0001583	missense	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.947A>G	3.37:g.100976579T>C	ENSP00000193391:p.Glu316Gly		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.E316G	ENST00000193391.7	37	c.947	CCDS2940.1	3	.	.	.	.	.	.	.	.	.	.	T	19.35	3.810491	0.70797	.	.	ENSG00000081148	ENST00000193391	T	0.31510	1.49	5.38	5.38	0.77491	SEA (2);	0.072600	0.56097	D	0.000029	T	0.46308	0.1386	L	0.52364	1.645	0.41018	D	0.985059	D;D	0.63880	0.993;0.993	P;P	0.61070	0.883;0.883	T	0.46748	-0.9169	10	0.72032	D	0.01	-5.4636	13.961	0.64180	0.0:0.0:0.0:1.0	.	316;316	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	G	316	ENSP00000193391:E316G	ENSP00000193391:E316G	E	-	2	0	IMPG2	102459269	0.540000	0.26410	0.976000	0.42696	0.555000	0.35460	2.454000	0.44979	2.040000	0.60383	0.260000	0.18958	GAG	IMPG2	-	pfam_SEA_dom,smart_SEA_dom	ENSG00000081148		0.453	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0.00	33	0	T			100976579	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.988	C
INPP5F	22876	genome.wustl.edu	37	10	121569640	121569640	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:121569640A>C	ENST00000361976.2	+	14	1764	c.1598A>C	c.(1597-1599)aAg>aCg	p.K533T		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.		I -> S (in OCRL).		cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		GGAGAAAGGAAGTTAGCAGGA	0.383																																																	0													150.0	130.0	136.0					10																	121569640		2203	4300	6503	SO:0001583	missense	0			AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1598A>C	10.37:g.121569640A>C	ENSP00000354519:p.Lys533Thr		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N	p.K533T	ENST00000361976.2	37	c.1598	CCDS7616.1	10	.	.	.	.	.	.	.	.	.	.	A	16.49	3.138521	0.56936	.	.	ENSG00000198825	ENST00000361976	T	0.22134	1.97	5.04	5.04	0.67666	.	0.168201	0.52532	D	0.000072	T	0.14527	0.0351	N	0.11255	0.115	0.80722	D	1	P	0.47350	0.894	P	0.46049	0.502	T	0.12785	-1.0534	10	0.14656	T	0.56	-20.6508	14.8223	0.70082	1.0:0.0:0.0:0.0	.	533	Q9Y2H2	SAC2_HUMAN	T	533	ENSP00000354519:K533T	ENSP00000354519:K533T	K	+	2	0	INPP5F	121559630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.195000	0.72088	1.911000	0.55334	0.459000	0.35465	AAG	INPP5F	-	NULL	ENSG00000198825		0.383	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP5F	HGNC	protein_coding	OTTHUMT00000050679.1	-	0.00	25	0	A	NM_014937		121569640	+1	tier1	-	no_errors	ENST00000361976	ensembl	human	known	74_37	missense	27.27	16	6	SNP	1.000	C
INSC	387755	genome.wustl.edu	37	11	15199878	15199878	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:15199878A>G	ENST00000379554.3	+	5	651	c.605A>G	c.(604-606)cAg>cGg	p.Q202R	INSC_ENST00000379556.3_Missense_Mutation_p.Q155R|INSC_ENST00000424273.1_Missense_Mutation_p.Q155R|INSC_ENST00000528567.1_Missense_Mutation_p.Q155R|INSC_ENST00000525218.1_Missense_Mutation_p.Q155R|INSC_ENST00000530161.1_Missense_Mutation_p.Q155R	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	202					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGTGCCTTCAGGTTGAGAAT	0.572																																																	0													114.0	112.0	112.0					11																	15199878		1956	4152	6108	SO:0001583	missense	0			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.605A>G	11.37:g.15199878A>G	ENSP00000368872:p.Gln202Arg		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.Q202R	ENST00000379554.3	37	c.605	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	A	8.852	0.944837	0.18356	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000416761;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.30448	1.54;1.56;1.53;1.54;1.56;1.53	5.41	5.41	0.78517	Armadillo-type fold (1);	0.168649	0.53938	D	0.000048	T	0.21841	0.0526	L	0.29908	0.895	0.40176	D	0.977231	P;B;B;B	0.38195	0.622;0.11;0.372;0.372	B;B;B;B	0.36092	0.217;0.04;0.114;0.114	T	0.06463	-1.0825	10	0.32370	T	0.25	-21.4404	10.6535	0.45661	0.857:0.0:0.0:0.143	.	155;155;155;202	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	R	202;155;155;155;155;155;155	ENSP00000368872:Q202R;ENSP00000368874:Q155R;ENSP00000389161:Q155R;ENSP00000435022:Q155R;ENSP00000436194:Q155R;ENSP00000436113:Q155R	ENSP00000368872:Q202R	Q	+	2	0	INSC	15156454	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.110000	0.71535	2.051000	0.60960	0.459000	0.35465	CAG	INSC	-	superfamily_ARM-type_fold	ENSG00000188487		0.572	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	-	0.00	96	0	A	NM_001031853		15199878	+1	tier1	-	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	10.53	85	10	SNP	0.999	G
JAKMIP2	9832	genome.wustl.edu	37	5	147040585	147040585	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:147040585G>A	ENST00000265272.5	-	3	1020	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.R185W|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.R143W	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	185						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCACTCCGAAGGTCCCCA	0.522																																																	0													163.0	154.0	157.0					5																	147040585		2203	4300	6503	SO:0001583	missense	0			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.553C>T	5.37:g.147040585G>A	ENSP00000265272:p.Arg185Trp		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.R185W	ENST00000265272.5	37	c.553	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	18.76	3.692869	0.68271	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.37915	1.17;1.17;1.17	5.13	-3.84	0.04256	.	0.000000	0.85682	D	0.000000	T	0.59932	0.2230	M	0.76838	2.35	0.58432	D	0.999993	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.988;0.988;0.988;0.988	T	0.71741	-0.4501	10	0.87932	D	0	.	22.3105	0.99970	0.0:0.0:0.8447:0.1553	.	143;185;185;185	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	W	185;185;143;185	ENSP00000421398:R185W;ENSP00000265272:R185W;ENSP00000328989:R143W	ENSP00000265272:R185W	R	-	1	2	JAKMIP2	147020778	0.997000	0.39634	0.041000	0.18516	0.858000	0.48976	2.416000	0.44644	-0.374000	0.07967	-0.169000	0.13324	CGG	JAKMIP2	-	NULL	ENSG00000176049		0.522	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	-	0.00	55	0	G	NM_014790		147040585	-1	tier1	-	no_errors	ENST00000265272	ensembl	human	known	74_37	missense	13.46	45	7	SNP	0.687	A
JARID2	3720	genome.wustl.edu	37	6	15496868	15496868	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:15496868G>T	ENST00000341776.2	+	7	1656	c.1412G>T	c.(1411-1413)gGc>gTc	p.G471V	JARID2_ENST00000541660.1_Missense_Mutation_p.G433V|JARID2_ENST00000397311.3_Missense_Mutation_p.G299V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	471					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GAAGGCCCTGGCAAGAAGGCC	0.667																																																	0													15.0	19.0	17.0					6																	15496868		2188	4278	6466	SO:0001583	missense	0			U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1412G>T	6.37:g.15496868G>T	ENSP00000341280:p.Gly471Val		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.G471V	ENST00000341776.2	37	c.1412	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	9.184	1.024299	0.19433	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	D;D;D	0.88896	-1.79;-1.79;-2.44	5.54	4.65	0.58169	.	0.870736	0.10415	N	0.677374	T	0.67135	0.2861	N	0.03608	-0.345	0.50813	D	0.999891	B;P;B	0.39216	0.161;0.664;0.047	B;B;B	0.36885	0.155;0.235;0.036	T	0.65940	-0.6046	10	0.30854	T	0.27	-1.5663	16.2775	0.82651	0.0:0.1328:0.8672:0.0	.	433;335;471	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	V	335;471;299;433	ENSP00000341280:G471V;ENSP00000380478:G299V;ENSP00000444623:G433V	ENSP00000341280:G471V	G	+	2	0	JARID2	15604847	1.000000	0.71417	0.087000	0.20705	0.128000	0.20619	6.273000	0.72581	1.288000	0.44600	0.655000	0.94253	GGC	JARID2	-	NULL	ENSG00000008083		0.667	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	HGNC	protein_coding	OTTHUMT00000039926.1		0.00	44	0	G	NM_004973		15496868	+1			no_errors	ENST00000341776	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.889	T
KCNA3	3738	genome.wustl.edu	37	1	111216094	111216094	+	Silent	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:111216094A>T	ENST00000369769.2	-	1	1561	c.1338T>A	c.(1336-1338)ggT>ggA	p.G446G		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	446					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	TATCGCCGTAACCCACTGTTG	0.577																																																	0													110.0	89.0	96.0					1																	111216094		2203	4300	6503	SO:0001819	synonymous_variant	0			L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.1338T>A	1.37:g.111216094A>T			Q5VWN2	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.G446	ENST00000369769.2	37	c.1338	CCDS828.2	1																																																																																			KCNA3	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl	ENSG00000177272		0.577	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA3	HGNC	protein_coding	OTTHUMT00000083391.1	-	0.00	58	0	A	NM_002232		111216094	-1	tier1	-	no_errors	ENST00000369769	ensembl	human	known	74_37	silent	7.14	51	4	SNP	0.252	T
KIAA1407	57577	genome.wustl.edu	37	3	113729737	113729737	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:113729737T>G	ENST00000295878.3	-	9	1441	c.1295A>C	c.(1294-1296)aAg>aCg	p.K432T	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K263T	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	432										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGCATCCATCTTCTTCCTAGT	0.527																																																	0													162.0	142.0	149.0					3																	113729737		2203	4300	6503	SO:0001583	missense	0			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1295A>C	3.37:g.113729737T>G	ENSP00000295878:p.Lys432Thr		B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.K432T	ENST00000295878.3	37	c.1295	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	T	17.58	3.423853	0.62733	.	.	ENSG00000163617	ENST00000295878;ENST00000545063;ENST00000491000	T;T;T	0.69306	0.37;-0.39;-0.21	6.03	3.66	0.41972	.	0.135175	0.64402	D	0.000003	T	0.78591	0.4307	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.73708	0.955;0.981;0.981	T	0.78001	-0.2375	10	0.72032	D	0.01	.	9.6349	0.39802	0.0:0.1427:0.0:0.8573	.	419;308;432	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	T	432;263;419	ENSP00000295878:K432T;ENSP00000446381:K263T;ENSP00000418099:K419T	ENSP00000295878:K432T	K	-	2	0	KIAA1407	115212427	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	2.167000	0.42415	0.529000	0.28599	0.533000	0.62120	AAG	KIAA1407	-	NULL	ENSG00000163617		0.527	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	-	0.00	27	0	T	NM_020817		113729737	-1	tier1	-	no_errors	ENST00000295878	ensembl	human	known	74_37	missense	13.33	26	4	SNP	1.000	G
KIF18B	146909	genome.wustl.edu	37	17	43012682	43012682	+	Missense_Mutation	SNP	C	C	T	rs371614541		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:43012682C>T	ENST00000593135.1	-	3	513	c.416G>A	c.(415-417)cGc>cAc	p.R139H	KIF18B_ENST00000590129.1_Missense_Mutation_p.R148H|KIF18B_ENST00000438933.2_Missense_Mutation_p.R139H|KIF18B_ENST00000587309.1_Missense_Mutation_p.R139H|KIF18B_ENST00000339151.4_Missense_Mutation_p.R139H	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	148	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCCTCCAGGCGCCTGTACAG	0.657																																																	0													44.0	53.0	50.0					17																	43012682		1983	4141	6124	SO:0001583	missense	0				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.416G>A	17.37:g.43012682C>T	ENSP00000465992:p.Arg139His		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R139H	ENST00000593135.1	37	c.416	CCDS45709.2	17	.	.	.	.	.	.	.	.	.	.	C	14.64	2.594543	0.46214	.	.	ENSG00000186185	ENST00000438933;ENST00000339151;ENST00000376982	T;T	0.75704	-0.96;-0.96	5.5	4.51	0.55191	Kinesin, motor domain (4);	0.000000	0.35838	N	0.002954	T	0.80059	0.4554	L	0.52364	1.645	0.19575	N	0.999964	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77557	0.99;0.975;0.975	T	0.69525	-0.5122	10	0.37606	T	0.19	.	9.5516	0.39313	0.144:0.7815:0.0:0.0746	.	148;148;148	Q86Y91;Q86Y91-3;Q86Y91-2	KI18B_HUMAN;.;.	H	139	ENSP00000412798:R139H;ENSP00000341466:R139H	ENSP00000341466:R139H	R	-	2	0	KIF18B	40368208	0.968000	0.33430	0.075000	0.20258	0.507000	0.33981	3.255000	0.51484	1.287000	0.44583	0.555000	0.69702	CGC	KIF18B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000186185		0.657	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	0.00	54	0	C	NM_001080443		43012682	-1	tier1	-	no_errors	ENST00000339151	ensembl	human	known	74_37	missense	41.54	37	27	SNP	0.202	T
KIF2B	84643	genome.wustl.edu	37	17	51901055	51901055	+	Silent	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:51901055C>A	ENST00000268919.4	+	1	817	c.661C>A	c.(661-663)Cgg>Agg	p.R221R		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	221	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R221W(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGTGAGGAAGCGGCCTCTCAA	0.547																																																	1	Substitution - Missense(1)	endometrium(1)											89.0	75.0	80.0					17																	51901055		2203	4300	6503	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.661C>A	17.37:g.51901055C>A			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R221	ENST00000268919.4	37	c.661	CCDS32685.1	17																																																																																			KIF2B	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000141200		0.547	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	-	0.00	26	0	C	NM_032559		51901055	+1	tier1	-	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.984	A
KIF7	374654	genome.wustl.edu	37	15	90177098	90177098	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:90177098T>G	ENST00000394412.3	-	12	2487	c.2411A>C	c.(2410-2412)aAg>aCg	p.K804T		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	804					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K291delK(1)|p.K804delK(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGTAGCCTGCTTCTTCTCCTT	0.637																																																	2	Deletion - In frame(2)	large_intestine(2)											57.0	54.0	55.0					15																	90177098		2200	4299	6499	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2411A>C	15.37:g.90177098T>G	ENSP00000377934:p.Lys804Thr		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K804T	ENST00000394412.3	37	c.2411	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	T	23.0	4.368725	0.82463	.	.	ENSG00000166813	ENST00000394412	T	0.38560	1.13	5.18	5.18	0.71444	.	0.047621	0.85682	D	0.000000	T	0.59487	0.2197	M	0.64997	1.995	0.52099	D	0.999942	D;D	0.71674	0.998;0.994	D;P	0.68621	0.959;0.795	T	0.57300	-0.7835	10	0.31617	T	0.26	.	15.0142	0.71570	0.0:0.0:0.0:1.0	.	290;804	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	T	804	ENSP00000377934:K804T	ENSP00000377934:K804T	K	-	2	0	KIF7	87978102	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.714000	0.84703	1.953000	0.56701	0.402000	0.26972	AAG	KIF7	-	NULL	ENSG00000166813		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1		0.00	61	0	T	NM_198525		90177098	-1			no_errors	ENST00000394412	ensembl	human	known	74_37	missense	12.90	54	8	SNP	1.000	G
KRT37	8688	genome.wustl.edu	37	17	39580586	39580586	+	Missense_Mutation	SNP	G	G	A	rs539645480		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:39580586G>A	ENST00000225550.3	-	1	189	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	64	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AGGCTGGGGCGGCCCAGGGGA	0.642																																																	0													40.0	40.0	40.0					17																	39580586		2203	4300	6503	SO:0001583	missense	0			Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.190C>T	17.37:g.39580586G>A	ENSP00000225550:p.Arg64Cys			Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.R64C	ENST00000225550.3	37	c.190	CCDS32653.1	17	.	.	.	.	.	.	.	.	.	.	.	15.90	2.970335	0.53614	.	.	ENSG00000108417	ENST00000225550	D	0.82893	-1.66	4.31	-1.92	0.07618	.	0.343196	0.20920	N	0.083299	T	0.80639	0.4661	M	0.69358	2.11	0.20821	N	0.999847	D	0.76494	0.999	P	0.53689	0.732	T	0.71567	-0.4554	10	0.87932	D	0	.	0.4151	0.00447	0.2425:0.1393:0.2611:0.3571	.	64	O76014	KRT37_HUMAN	C	64	ENSP00000225550:R64C	ENSP00000225550:R64C	R	-	1	0	KRT37	36834112	0.000000	0.05858	0.159000	0.22649	0.899000	0.52679	-2.685000	0.00834	-0.578000	0.05959	0.655000	0.94253	CGC	KRT37	-	NULL	ENSG00000108417		0.642	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT37	HGNC	protein_coding	OTTHUMT00000257714.2	-	0.00	34	0	G	NM_003770		39580586	-1	tier1	-	no_errors	ENST00000225550	ensembl	human	known	74_37	missense	8.33	55	5	SNP	0.010	A
LAMA1	284217	genome.wustl.edu	37	18	7079982	7079982	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:7079982A>C	ENST00000389658.3	-	3	430	c.337T>G	c.(337-339)Tta>Gta	p.L113V	RP11-76K13.3_ENST00000581502.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	113	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTGTCTTAAGTCCAGAGTG	0.478																																																	0													182.0	137.0	152.0					18																	7079982		2203	4300	6503	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.337T>G	18.37:g.7079982A>C	ENSP00000374309:p.Leu113Val			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L113V	ENST00000389658.3	37	c.337	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	A	20.5	3.999361	0.74818	.	.	ENSG00000101680	ENST00000389658	D	0.84589	-1.87	5.61	-0.621	0.11564	Laminin, N-terminal (3);	0.202993	0.34025	N	0.004324	D	0.93070	0.7794	H	0.94620	3.56	0.44268	D	0.997127	D	0.89917	1.0	D	0.91635	0.999	D	0.92793	0.6250	10	0.87932	D	0	.	11.6545	0.51309	0.6272:0.0:0.3728:0.0	.	113	P25391	LAMA1_HUMAN	V	113	ENSP00000374309:L113V	ENSP00000374309:L113V	L	-	1	2	LAMA1	7069982	0.907000	0.30839	0.997000	0.53966	0.993000	0.82548	0.075000	0.14686	0.100000	0.17581	0.533000	0.62120	TTA	LAMA1	-	pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N	ENSG00000101680		0.478	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	-	0.00	38	0	A	NM_005559		7079982	-1	tier1	-	no_errors	ENST00000389658	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.993	C
LASP1	3927	genome.wustl.edu	37	17	37074945	37074945	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:37074945C>T	ENST00000318008.6	+	7	1031	c.700C>T	c.(700-702)Cag>Tag	p.Q234*	LASP1_ENST00000435347.3_Nonsense_Mutation_p.Q234*|LASP1_ENST00000433206.2_Nonsense_Mutation_p.Q178*|RP1-56K13.3_ENST00000580121.1_RNA	NM_006148.2	NP_006139.1	Q14847	LASP1_HUMAN	LIM and SH3 protein 1	234	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				ion transport (GO:0006811)|positive regulation of signal transduction (GO:0009967)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	ion transmembrane transporter activity (GO:0015075)|SH3/SH2 adaptor activity (GO:0005070)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(2)|lung(4)|urinary_tract(2)	9						CAACGTGCAGCAGATCGACGA	0.667			T	MLL	AML																																			Dom	yes		17	17q11-q21.3	3927	LIM and SH3 protein 1		L	0													122.0	106.0	112.0					17																	37074945		2203	4300	6503	SO:0001587	stop_gained	0				CCDS11331.1, CCDS62164.1	17q11-q21.3	2008-07-18			ENSG00000002834	ENSG00000002834			6513	protein-coding gene	gene with protein product		602920				7490069	Standard	NM_006148		Approved	MLN50, Lasp-1	uc010cvq.3	Q14847	OTTHUMG00000133182	ENST00000318008.6:c.700C>T	17.37:g.37074945C>T	ENSP00000325240:p.Gln234*		B4DGQ0|Q96ED2|Q96IG0	Nonsense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.Q234*	ENST00000318008.6	37	c.700	CCDS11331.1	17	.	.	.	.	.	.	.	.	.	.	C	38	6.941588	0.97952	.	.	ENSG00000002834	ENST00000318008;ENST00000433206;ENST00000435347	.	.	.	5.39	5.39	0.77823	.	2.550840	0.01922	N	0.040585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7153	0.88335	0.0:1.0:0.0:0.0	.	.	.	.	X	234;178;234	.	ENSP00000325240:Q234X	Q	+	1	0	LASP1	34328471	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.002000	0.57053	2.540000	0.85666	0.462000	0.41574	CAG	LASP1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000002834		0.667	LASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LASP1	HGNC	protein_coding	OTTHUMT00000256890.3	-	0.00	73	0	C	NM_006148		37074945	+1	tier1	-	no_errors	ENST00000318008	ensembl	human	known	74_37	nonsense	12.00	66	9	SNP	1.000	T
LIMCH1	22998	genome.wustl.edu	37	4	41699388	41699388	+	3'UTR	DEL	T	T	-	rs569294141|rs10709122	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:41699388delT	ENST00000313860.7	+	0	3492				LIMCH1_ENST00000513024.1_3'UTR|LIMCH1_ENST00000503057.1_3'UTR|LIMCH1_ENST00000515785.1_3'UTR|LIMCH1_ENST00000508501.1_3'UTR|LIMCH1_ENST00000381753.4_3'UTR|LIMCH1_ENST00000512632.1_3'UTR|LIMCH1_ENST00000509277.1_3'UTR|LIMCH1_ENST00000512820.1_3'UTR|LIMCH1_ENST00000396595.3_3'UTR|LIMCH1_ENST00000514096.1_3'UTR|LIMCH1_ENST00000512946.1_3'UTR|LIMCH1_ENST00000511496.1_3'UTR	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						attgttttggttttttttttt	0.348													|||unknown(HR)	2064	0.412141	0.4871	0.4006	5008	,	,		18640	0.4157		0.3539	False		,,,				2504	0.3753																0																																										SO:0001624	3_prime_UTR_variant	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.*186T>-	4.37:g.41699388delT			A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	RNA	DEL	-	NULL	ENST00000313860.7	37	NULL	CCDS33977.1	4																																																																																			LIMCH1	-	-	ENSG00000064042		0.348	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2		0.00	8	0	T	NM_014988		41699388	+1	tier1		no_errors	ENST00000515785	ensembl	human	known	74_37	rna	33.33	6	3	DEL	0.000	-
LINC00283	100874057	genome.wustl.edu	37	13	103397262	103397262	+	RNA	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:103397262C>T	ENST00000430111.1	+	0	1635									long intergenic non-protein coding RNA 283																		TTGTGCTGTTCCCCCATACAT	0.413																																																	0													176.0	130.0	144.0					13																	103397262		692	1590	2282			0					13q33.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000231633	ENSG00000231633		"""Long non-coding RNAs"""	38809	non-coding RNA	RNA, long non-coding			"""non-protein coding RNA 283"""	NCRNA00283			Standard			Approved				OTTHUMG00000017311		13.37:g.103397262C>T				RNA	SNP	-	NULL	ENST00000430111.1	37	NULL		13																																																																																			LINC00283	-	-	ENSG00000231633		0.413	LINC00283-001	KNOWN	not_organism_supported|basic	antisense	LINC00283	HGNC	antisense	OTTHUMT00000045714.1	-	0.00	109	0	C			103397262	+1	tier1	-	no_errors	ENST00000430111	ensembl	human	known	74_37	rna	18.33	97	22	SNP	0.008	T
LINC00987	100499405	genome.wustl.edu	37	12	9393917	9393917	+	lincRNA	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:9393917T>G	ENST00000427111.3	+	0	741					NR_036466.1				long intergenic non-protein coding RNA 987																		AGTGAGATTCTTCATTCTTCT	0.498																																																	0																																												0			AK126248		12p13.31	2013-07-04			ENSG00000237248	ENSG00000237248		"""Long non-coding RNAs"""	48911	non-coding RNA	RNA, long non-coding							Standard	NR_036466		Approved				OTTHUMG00000168332		12.37:g.9393917T>G				RNA	SNP	-	NULL	ENST00000427111.3	37	NULL		12																																																																																			LINC00987	-	-	ENSG00000237248		0.498	LINC00987-001	KNOWN	basic	lincRNA	LINC00987	HGNC	lincRNA	OTTHUMT00000399347.1	-	0.00	32	0	T			9393917	+1	tier1	-	no_errors	ENST00000427111	ensembl	human	known	74_37	rna	13.64	38	6	SNP	0.003	G
ADH1A	124	genome.wustl.edu	37	4	100207959	100207959	+	Intron	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:100207959A>T	ENST00000209668.2	-	3	373				RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide						alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	CAGGCTGGGAAATCTTAGGAT	0.522																																																	0													116.0	112.0	114.0					4																	100207959		2203	4300	6503	SO:0001627	intron_variant	0			M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.259+47T>A	4.37:g.100207959A>T			A8K3E3|Q17R68	RNA	SNP	-	NULL	ENST00000209668.2	37	NULL	CCDS3648.1	4																																																																																			RP11-696N14.1	-	-	ENSG00000246090		0.522	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929271	Clone_based_vega_gene	protein_coding	OTTHUMT00000253669.1	-	0.00	57	0	A	NM_000667		100207959	+1	tier1	-	no_errors	ENST00000500358	ensembl	human	known	74_37	rna	14.71	58	10	SNP	0.000	T
LOC101929735	101929735	genome.wustl.edu	37	14	22887365	22887365	+	lincRNA	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:22887365T>G	ENST00000555460.1	+	0	175				AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA|AE000661.37_ENST00000514473.2_RNA|AE000661.37_ENST00000535351.1_RNA																							CTGCCGCCTGTTCCTCAACAG	0.448																																																	0																																												0																															14.37:g.22887365T>G				RNA	SNP	-	NULL	ENST00000555460.1	37	NULL		14																																																																																			AE000661.37	-	-	ENSG00000251002		0.448	AE000661.50-001	KNOWN	basic|exp_conf	lincRNA	LOC101929735	Clone_based_vega_gene	lincRNA	OTTHUMT00000410668.1	-	0.00	66	0	T			22887365	-1	tier1	-	no_errors	ENST00000537850	ensembl	human	known	74_37	rna	20.37	43	11	SNP	0.000	G
LOC407835	407835	genome.wustl.edu	37	7	128767493	128767493	+	RNA	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:128767493G>A	ENST00000471777.1	+	0	35																											CAGCGGTTACGGGATGGACAG	0.622																																																	0																																												0																															7.37:g.128767493G>A				RNA	SNP	-	NULL	ENST00000471777.1	37	NULL		7																																																																																			RP11-286H14.4	-	-	ENSG00000230626		0.622	RP11-286H14.4-002	KNOWN	basic	processed_transcript	LOC407835	Clone_based_vega_gene	pseudogene	OTTHUMT00000350981.1	-	0.00	79	0	G			128767493	+1	tier1	-	no_errors	ENST00000471777	ensembl	human	known	74_37	rna	22.58	48	14	SNP	0.170	A
LRP2	4036	genome.wustl.edu	37	2	170062083	170062083	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:170062083A>C	ENST00000263816.3	-	41	7906	c.7621T>G	c.(7621-7623)Ttc>Gtc	p.F2541V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2541					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGTACGCGGAAGTTTCCTCCC	0.488																																																	0													123.0	114.0	117.0					2																	170062083		2203	4300	6503	SO:0001583	missense	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.7621T>G	2.37:g.170062083A>C	ENSP00000263816:p.Phe2541Val		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.F2541V	ENST00000263816.3	37	c.7621	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567670	0.65651	.	.	ENSG00000081479	ENST00000263816	D	0.95656	-3.77	5.9	4.74	0.60224	Six-bladed beta-propeller, TolB-like (1);	0.092042	0.85682	D	0.000000	D	0.94775	0.8313	L	0.39898	1.24	0.80722	D	1	P	0.52170	0.951	P	0.58660	0.843	D	0.91970	0.5586	10	0.16896	T	0.51	.	11.9722	0.53069	0.9324:0.0:0.0676:0.0	.	2541	P98164	LRP2_HUMAN	V	2541	ENSP00000263816:F2541V	ENSP00000263816:F2541V	F	-	1	0	LRP2	169770329	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	9.339000	0.96797	1.050000	0.40346	0.459000	0.35465	TTC	LRP2	-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000081479		0.488	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	-	0.00	69	0	A	NM_004525		170062083	-1	tier1	-	no_errors	ENST00000263816	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	C
LYST	1130	genome.wustl.edu	37	1	235827307	235827307	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:235827307G>A	ENST00000389794.3	-	52	11418	c.11244C>T	c.(11242-11244)ccC>ccT	p.P3748P	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Silent_p.P3748P			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3748					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.P3748P(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATTTGATTTGGGAAATGTAA	0.363																																																	1	Substitution - coding silent(1)	lung(1)											148.0	149.0	149.0					1																	235827307		2203	4300	6503	SO:0001819	synonymous_variant	0			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.11244C>T	1.37:g.235827307G>A			O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P3748	ENST00000389794.3	37	c.11244	CCDS31062.1	1																																																																																			LYST	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000143669		0.363	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	-	0.00	31	0	G			235827307	-1	tier1	-	no_errors	ENST00000389793	ensembl	human	known	74_37	silent	50.00	19	19	SNP	0.998	A
MAP3K19	80122	genome.wustl.edu	37	2	135743638	135743638	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:135743638T>G	ENST00000375845.3	-	7	2834	c.2804A>C	c.(2803-2805)aAg>aCg	p.K935T	MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.K822T|MAP3K19_ENST00000392915.1_Missense_Mutation_p.K952T|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	935							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TGTGATTGACTTATTTGCTAA	0.313																																																	0													66.0	66.0	66.0					2																	135743638		2202	4299	6501	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2804A>C	2.37:g.135743638T>G	ENSP00000365005:p.Lys935Thr		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K935T	ENST00000375845.3	37	c.2804	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	T	0.477	-0.881591	0.02530	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.72942	-0.58;-0.57;1.78;-0.7	4.73	2.31	0.28768	.	0.746757	0.11856	N	0.522900	T	0.59662	0.2210	L	0.47716	1.5	0.09310	N	0.999991	B;B;B	0.23806	0.041;0.091;0.055	B;B;B	0.19946	0.027;0.018;0.008	T	0.52457	-0.8573	10	0.54805	T	0.06	.	4.6854	0.12755	0.0:0.1661:0.1634:0.6705	.	822;952;935	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	T	935;822;952;325	ENSP00000365005:K935T;ENSP00000351140:K822T;ENSP00000376647:K952T;ENSP00000392827:K325T	ENSP00000351140:K822T	K	-	2	0	YSK4	135460108	0.029000	0.19370	0.002000	0.10522	0.013000	0.08279	-0.040000	0.12104	0.310000	0.22990	0.374000	0.22700	AAG	MAP3K19	-	NULL	ENSG00000176601		0.313	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1		0.00	65	0	T	NM_025052		135743638	-1			no_errors	ENST00000375845	ensembl	human	known	74_37	missense	6.98	39	3	SNP	0.040	G
MARCH4	57574	genome.wustl.edu	37	2	217234868	217234868	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:217234868T>G	ENST00000273067.4	-	1	1882	c.116A>C	c.(115-117)aAg>aCg	p.K39T		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	39						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCAGCGGCACTTGAGGAGACC	0.652																																																	0													16.0	18.0	18.0					2																	217234868		2200	4295	6495	SO:0001583	missense	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.116A>C	2.37:g.217234868T>G	ENSP00000273067:p.Lys39Thr		Q4KMN7|Q86WR8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.K39T	ENST00000273067.4	37	c.116	CCDS33376.1	2	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193819	0.78902	.	.	ENSG00000144583	ENST00000273067	T	0.27890	1.64	5.24	5.24	0.73138	.	0.560795	0.20065	N	0.099993	T	0.46112	0.1376	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43653	-0.9378	10	0.87932	D	0	1.6755	14.4575	0.67425	0.0:0.0:0.0:1.0	.	39	Q9P2E8	MARH4_HUMAN	T	39	ENSP00000273067:K39T	ENSP00000273067:K39T	K	-	2	0	MARCH4	216943113	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.195000	0.77798	2.196000	0.70406	0.482000	0.46254	AAG	MARCH4	-	NULL	ENSG00000144583		0.652	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0.00	48	0	T	NM_020814		217234868	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	missense	14.29	36	6	SNP	1.000	G
MATN4	8785	genome.wustl.edu	37	20	43927056	43927056	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:43927056G>T	ENST00000372754.1	-	7	1311	c.1303C>A	c.(1303-1305)Cgc>Agc	p.R435S	MATN4_ENST00000372751.4_Missense_Mutation_p.R245S|MATN4_ENST00000372756.1_Missense_Mutation_p.R394S|MATN4_ENST00000537548.1_Missense_Mutation_p.R394S|MATN4_ENST00000353917.5_Missense_Mutation_p.R312S|MATN4_ENST00000342716.4_Missense_Mutation_p.R394S|MATN4_ENST00000360607.6_Missense_Mutation_p.R353S			O95460	MATN4_HUMAN	matrilin 4	435	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)		p.R394C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AACTCGGTGCGCACGCGGCTC	0.652																																																	1	Substitution - Missense(1)	lung(1)											53.0	47.0	49.0					20																	43927056		2203	4299	6502	SO:0001583	missense	0			AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1303C>A	20.37:g.43927056G>T	ENSP00000361840:p.Arg435Ser		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A	p.R435S	ENST00000372754.1	37	c.1303		20	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690194	0.88735	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.45	5.45	0.79879	.	0.000000	0.44902	D	0.000411	D	0.90926	0.7148	M	0.76170	2.325	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	D	0.90622	0.4560	10	0.48119	T	0.1	.	18.3404	0.90303	0.0:0.0:1.0:0.0	.	312;353;394	A6NNA4;O95460-4;O95460-2	.;.;.	S	245;435;394;312;353;394;394;435;245	ENSP00000361839:R245S;ENSP00000361840:R435S;ENSP00000361842:R394S;ENSP00000243983:R312S;ENSP00000353819:R353S;ENSP00000343164:R394S;ENSP00000440328:R394S;ENSP00000361837:R245S	ENSP00000255132:R435S	R	-	1	0	MATN4	43360470	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.278000	0.58946	2.562000	0.86427	0.650000	0.86243	CGC	MATN4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000124159		0.652	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	MATN4	HGNC	protein_coding	OTTHUMT00000080335.1	-	0.00	53	0	G			43927056	-1	tier1	-	no_errors	ENST00000372754	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	T
MCC	4163	genome.wustl.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					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)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082																0																																										SO:0001652	inframe_insertion	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	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup		D3DT05|Q6ZR04	In_Frame_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom	p.21in_frame_insG	ENST00000408903.3	37	c.64_63	CCDS43351.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1		0.00	8	0	0	NM_001085377		112824049	-1			no_errors	ENST00000408903	ensembl	human	putative	74_37	in_frame_ins	27.78	13	5	INS	0.854:0.894	GCC
MCFD2	90411	genome.wustl.edu	37	2	47136240	47136240	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:47136240G>A	ENST00000409105.1	-	3	250	c.71C>T	c.(70-72)gCc>gTc	p.A24V	MCFD2_ENST00000409800.1_Intron|MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000319466.4_Missense_Mutation_p.A24V|MCFD2_ENST00000409147.1_Intron|MCFD2_ENST00000409207.1_Missense_Mutation_p.A24V|MCFD2_ENST00000409973.1_Missense_Mutation_p.A24V|MCFD2_ENST00000409913.1_Intron|MCFD2_ENST00000409218.1_Missense_Mutation_p.A24V|MCFD2_ENST00000444761.2_Intron|AC016722.4_ENST00000429761.1_RNA	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	24					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CTCAGCCCTGGCGCCTGGGGC	0.582																																																	0													48.0	50.0	50.0					2																	47136240		2203	4300	6503	SO:0001583	missense	0			AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.71C>T	2.37:g.47136240G>A	ENSP00000386651:p.Ala24Val		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	pfscan_EF_hand_dom	p.A24V	ENST00000409105.1	37	c.71	CCDS33192.1	2	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133189	0.21041	.	.	ENSG00000180398	ENST00000409105;ENST00000319466;ENST00000409207;ENST00000409973;ENST00000409218;ENST00000412438;ENST00000417180	D;D;D;D;D;D	0.84873	-1.91;-1.91;-1.91;-1.91;-1.91;-1.91	5.36	3.4	0.38934	.	0.784175	0.12385	N	0.473523	T	0.75642	0.3877	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.64132	-0.6479	10	0.49607	T	0.09	-10.0162	8.3066	0.32047	0.2611:0.0:0.7389:0.0	.	24	Q8NI22	MCFD2_HUMAN	V	24	ENSP00000386651:A24V;ENSP00000317271:A24V;ENSP00000386386:A24V;ENSP00000386279:A24V;ENSP00000386261:A24V;ENSP00000402717:A24V	ENSP00000317271:A24V	A	-	2	0	MCFD2	46989744	0.004000	0.15560	0.222000	0.23844	0.449000	0.32228	0.839000	0.27586	0.718000	0.32166	0.561000	0.74099	GCC	MCFD2	-	NULL	ENSG00000180398		0.582	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MCFD2	HGNC	protein_coding	OTTHUMT00000329518.1	-	0.00	55	0	G	NM_139279		47136240	-1	tier1	-	no_errors	ENST00000319466	ensembl	human	known	74_37	missense	19.23	42	10	SNP	0.003	A
MCTP2	55784	genome.wustl.edu	37	15	94888377	94888377	+	Missense_Mutation	SNP	G	G	T	rs139457907		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:94888377G>T	ENST00000357742.4	+	7	989	c.989G>T	c.(988-990)cGa>cTa	p.R330L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.R330L|MCTP2_ENST00000451018.3_Missense_Mutation_p.R330L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	330					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AATCGGAAGCGATTAAGTGCC	0.318																																																	0													119.0	122.0	121.0					15																	94888377		2197	4297	6494	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.989G>T	15.37:g.94888377G>T	ENSP00000350377:p.Arg330Leu		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R330L	ENST00000357742.4	37	c.989	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833763	0.16820	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.70869	-0.52;-0.26;-0.09	5.12	3.23	0.37069	.	0.653399	0.14324	N	0.326811	T	0.56949	0.2020	L	0.38175	1.15	0.39812	D	0.97272	B;B;B;B	0.20459	0.015;0.045;0.001;0.011	B;B;B;B	0.15484	0.009;0.013;0.001;0.005	T	0.47328	-0.9126	10	0.24483	T	0.36	.	8.2889	0.31946	0.1865:0.0:0.8135:0.0	.	330;330;330;330	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	L	330	ENSP00000438521:R330L;ENSP00000395109:R330L;ENSP00000350377:R330L	ENSP00000350377:R330L	R	+	2	0	MCTP2	92689381	0.129000	0.22400	0.340000	0.25575	0.985000	0.73830	0.473000	0.22132	0.651000	0.30788	0.650000	0.86243	CGA	MCTP2	-	NULL	ENSG00000140563		0.318	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3		0.00	39	0	G	NM_018349		94888377	+1			no_errors	ENST00000357742	ensembl	human	known	74_37	missense	6.00	47	3	SNP	0.589	T
MDGA1	266727	genome.wustl.edu	37	6	37626132	37626132	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:37626132C>T	ENST00000434837.3	-	3	1449	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MDGA1_ENST00000505425.1_Missense_Mutation_p.E91K|MDGA1_ENST00000297153.7_Missense_Mutation_p.E91K	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	91	Ig-like 1.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.E91K(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CGCAGCGTCTCGTTGAACACC	0.647																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	91.0	88.0					6																	37626132		2128	4224	6352	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.271G>A	6.37:g.37626132C>T	ENSP00000402584:p.Glu91Lys		A6NHG0|Q8NBE3	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_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom	p.E91K	ENST00000434837.3	37	c.271	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.972529	0.97162	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425;ENST00000515437;ENST00000508399	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	5.07	5.07	0.68467	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.49916	D	0.000134	T	0.64649	0.2617	N	0.20986	0.625	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.64076	-0.6492	10	0.32370	T	0.25	.	17.8109	0.88616	0.0:1.0:0.0:0.0	.	91	Q8NFP4	MDGA1_HUMAN	K	91;91;91;35;35	ENSP00000402584:E91K;ENSP00000297153:E91K;ENSP00000422042:E91K;ENSP00000421510:E35K;ENSP00000427645:E35K	ENSP00000297153:E91K	E	-	1	0	MDGA1	37734110	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.090000	0.71397	2.515000	0.84797	0.655000	0.94253	GAG	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000112139		0.647	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	-	0.00	110	0	C			37626132	-1	tier1	-	no_errors	ENST00000297153	ensembl	human	known	74_37	missense	13.08	93	14	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	151107893	151107893	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:151107893T>G	ENST00000474524.1	+	36	5511	c.5473T>G	c.(5473-5475)Ttt>Gtt	p.F1825V	MED12L_ENST00000273432.4_Missense_Mutation_p.F1685V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1825						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCCCGGCTTTTTCCTTCA	0.498																																																	0													145.0	158.0	154.0					3																	151107893		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5473T>G	3.37:g.151107893T>G	ENSP00000417235:p.Phe1825Val		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.F1825V	ENST00000474524.1	37	c.5473	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	T	15.13	2.743514	0.49151	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.59083	0.51;0.29	5.75	4.59	0.56863	Mediator complex, subunit Med12, catenin-binding (1);	0.104489	0.64402	D	0.000004	T	0.53818	0.1820	L	0.57536	1.79	0.37887	D	0.930585	B;B	0.20780	0.048;0.037	B;B	0.25759	0.015;0.063	T	0.56535	-0.7963	10	0.62326	D	0.03	-13.6606	10.3295	0.43814	0.0:0.0755:0.0:0.9245	.	1685;1825	F8WAE6;Q86YW9	.;MD12L_HUMAN	V	1825;1685	ENSP00000417235:F1825V;ENSP00000273432:F1685V	ENSP00000273432:F1685V	F	+	1	0	MED12L	152590583	1.000000	0.71417	0.945000	0.38365	0.989000	0.77384	3.022000	0.49659	0.992000	0.38840	0.533000	0.62120	TTT	MED12L	-	pfam_Mediator_Med12_catenin-bd	ENSG00000144893		0.498	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	-	0.00	37	0	T	NM_053002		151107893	+1	tier1	-	no_errors	ENST00000474524	ensembl	human	known	74_37	missense	12.24	43	6	SNP	1.000	G
MED25	81857	genome.wustl.edu	37	19	50338429	50338429	+	Nonsense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:50338429C>T	ENST00000312865.6	+	14	1722	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	MED25_ENST00000538643.1_Nonsense_Mutation_p.R344*	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	557					cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCAGCAGCAGCGAGGAGTGAG	0.652																																					GBM(51;894 1657 37868)												0													117.0	102.0	107.0					19																	50338429		2203	4300	6503	SO:0001587	stop_gained	0			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.1669C>T	19.37:g.50338429C>T	ENSP00000326767:p.Arg557*		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Nonsense_Mutation	SNP	pfam_Mediator_Med25_VWA,pfam_Mediator_Med25,pfam_Mediator_Med25_SD1,pfam_Mediator_Med25_NR-box	p.R557*	ENST00000312865.6	37	c.1669	CCDS33075.1	19	.	.	.	.	.	.	.	.	.	.	c	35	5.461932	0.96240	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000538643;ENST00000377070;ENST00000536547	.	.	.	5.42	5.42	0.78866	.	0.199063	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	14.7255	0.69341	0.0:1.0:0.0:0.0	.	.	.	.	X	557;557;557;557;557;344;292;46	.	ENSP00000326767:R557X	R	+	1	2	MED25	55030241	1.000000	0.71417	0.998000	0.56505	0.900000	0.52787	2.069000	0.41481	2.552000	0.86080	0.306000	0.20318	CGA	MED25	-	NULL	ENSG00000104973		0.652	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED25	HGNC	protein_coding	OTTHUMT00000465316.1	-	0.00	55	0	C	NM_030973		50338429	+1	tier1	-	no_errors	ENST00000312865	ensembl	human	known	74_37	nonsense	33.82	45	23	SNP	0.999	T
MGAT4C	25834	genome.wustl.edu	37	12	86373533	86373533	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:86373533T>C	ENST00000604798.1	-	8	2175	c.971A>G	c.(970-972)aAg>aGg	p.K324R	MGAT4C_ENST00000548651.1_Missense_Mutation_p.K324R|MGAT4C_ENST00000552435.2_Silent_p.*112*|MGAT4C_ENST00000552808.2_Missense_Mutation_p.K324R|MGAT4C_ENST00000332156.1_Missense_Mutation_p.K324R|MGAT4C_ENST00000549405.2_Missense_Mutation_p.K324R|MGAT4C_ENST00000393205.2_Missense_Mutation_p.K353R			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	324					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATCCTTCAGCTTATTCTCCGT	0.403																																																	0													79.0	77.0	78.0					12																	86373533		2203	4300	6503	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.971A>G	12.37:g.86373533T>C	ENSP00000474896:p.Lys324Arg		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.K353R	ENST00000604798.1	37	c.1058	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	T	4.751	0.139706	0.09083	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.75	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	L	0.41632	1.29	0.47037	D	0.999296	B;B	0.26147	0.143;0.143	B;B	0.30316	0.114;0.114	T	0.16867	-1.0388	10	0.33940	T	0.23	-19.275	12.3605	0.55201	0.1264:0.0:0.0:0.8736	.	353;324	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	R	324;353;324;324;324;324;324	ENSP00000331664:K324R;ENSP00000376900:K353R;ENSP00000449022:K324R;ENSP00000446647:K324R;ENSP00000447253:K324R;ENSP00000449172:K324R	ENSP00000331664:K324R	K	-	2	0	MGAT4C	84897664	1.000000	0.71417	0.995000	0.50966	0.007000	0.05969	8.033000	0.88852	0.989000	0.38761	-0.335000	0.08231	AAG	MGAT4C	-	pfam_Glyco_transf_54	ENSG00000182050		0.403	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2		0.00	14	0	T	NM_013244		86373533	-1			no_errors	ENST00000393205	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	C
MEST	4232	genome.wustl.edu	37	7	130138218	130138218	+	Intron	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:130138218A>C	ENST00000223215.4	+	6	697				MEST_ENST00000462132.1_Intron|MEST_ENST00000416162.2_Intron|MEST_ENST00000437945.1_Intron|MIR335_ENST00000362173.1_RNA|MEST_ENST00000378576.4_Intron|MEST_ENST00000341441.5_Intron|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Intron	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript						mesoderm development (GO:0007498)|regulation of lipid storage (GO:0010883)|response to retinoic acid (GO:0032526)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CACTGGTTTAAGTTTGCTCAG	0.443																																					Colon(126;2182 2305 6517 35181)												0													113.0	95.0	101.0					7																	130138218		2203	4300	6503	SO:0001627	intron_variant	0				CCDS5822.1, CCDS5823.1, CCDS59081.1	7q32	2014-08-22	2012-12-07		ENSG00000106484	ENSG00000106484			7028	protein-coding gene	gene with protein product	"""Paternally-expressed gene 1"""	601029	"""mesoderm specific transcript (mouse) homolog"", ""mesoderm specific transcript homolog (mouse)"""			8884280	Standard	NM_002402		Approved	PEG1	uc003vqg.3	Q5EB52	OTTHUMG00000156661	ENST00000223215.4:c.477-42A>C	7.37:g.130138218A>C			B2R6S1|O14973|O15007|Q6AI49|Q92571	RNA	SNP	-	NULL	ENST00000223215.4	37	NULL	CCDS5822.1	7																																																																																			hsa-mir-335	-	-	ENSG00000270823		0.443	MEST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR335	miRBase	protein_coding	OTTHUMT00000345183.2	-	0.00	192	0	A	NM_002402		130138218	-1	tier1	-	no_errors	ENST00000604666	ensembl	human	known	74_37	rna	24.17	91	29	SNP	0.000	C
MMP2	4313	genome.wustl.edu	37	16	55523591	55523591	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:55523591A>T	ENST00000219070.4	+	7	1544	c.1035A>T	c.(1033-1035)gaA>gaT	p.E345D	MMP2_ENST00000570308.1_Missense_Mutation_p.E269D|MMP2_ENST00000543485.1_Missense_Mutation_p.E269D|MMP2_ENST00000437642.2_Missense_Mutation_p.E295D	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	345	Collagen-binding.|Fibronectin type-II 3. {ECO:0000255|PROSITE-ProRule:PRU00479}.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	GGAACTCAGAAGGTGCCCCCT	0.572																																																	0													129.0	128.0	128.0					16																	55523591		2198	4300	6498	SO:0001583	missense	0				CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1035A>T	16.37:g.55523591A>T	ENSP00000219070:p.Glu345Asp		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,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.E345D	ENST00000219070.4	37	c.1035	CCDS10752.1	16	.	.	.	.	.	.	.	.	.	.	A	13.64	2.296403	0.40594	.	.	ENSG00000087245	ENST00000219070;ENST00000543485;ENST00000437642	T;T;T	0.17691	2.39;2.26;2.29	4.91	-0.514	0.11958	Peptidase M10, metallopeptidase (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);Peptidase, metallopeptidase (1);	0.213805	0.47455	D	0.000228	T	0.07052	0.0179	N	0.14661	0.345	0.58432	D	0.999991	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.35325	-0.9793	10	0.13853	T	0.58	.	6.3208	0.21217	0.465:0.1352:0.3998:0.0	.	295;345	E9PE45;P08253	.;MMP2_HUMAN	D	345;269;295	ENSP00000219070:E345D;ENSP00000444143:E269D;ENSP00000394237:E295D	ENSP00000219070:E345D	E	+	3	2	MMP2	54081092	0.878000	0.30173	0.971000	0.41717	0.982000	0.71751	0.007000	0.13174	0.012000	0.14892	0.533000	0.62120	GAA	MMP2	-	pfam_Pept_M10_metallopeptidase,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	ENSG00000087245		0.572	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP2	HGNC	protein_coding	OTTHUMT00000256913.3	-	0.00	97	0	A			55523591	+1	tier1	-	no_errors	ENST00000219070	ensembl	human	known	74_37	missense	13.27	84	13	SNP	0.995	T
MSH6	2956	genome.wustl.edu	37	2	48018227	48018227	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:48018227G>T	ENST00000234420.5	+	2	574	c.422G>T	c.(421-423)gGc>gTc	p.G141V	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	141	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAACAAGGGGCTGGGTTAGC	0.453			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)											88.0	91.0	90.0					2																	48018227		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.422G>T	2.37:g.48018227G>T	ENSP00000234420:p.Gly141Val		B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	p.G141V	ENST00000234420.5	37	c.422	CCDS1836.1	2	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978632	0.92982	.	.	ENSG00000116062	ENST00000234420;ENST00000544857;ENST00000446255;ENST00000455383;ENST00000420813;ENST00000411819	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.63	5.63	0.86233	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.87969	0.2735	10	0.72032	D	0.01	-14.445	19.6816	0.95965	0.0:0.0:1.0:0.0	.	141;141	P52701;P52701-2	MSH6_HUMAN;.	V	141;139;141;42;42;42	ENSP00000234420:G141V;ENSP00000397484:G42V;ENSP00000390382:G42V;ENSP00000406248:G42V	ENSP00000234420:G141V	G	+	2	0	MSH6	47871731	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.632000	0.89209	0.557000	0.71058	GGC	MSH6	-	pfam_PWWP_dom,smart_PWWP_dom,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom	ENSG00000116062		0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	HGNC	protein_coding	OTTHUMT00000251180.4		0.00	36	0	G	NM_000179		48018227	+1			no_errors	ENST00000234420	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	T
MUC21	394263	genome.wustl.edu	37	6	30955326	30955326	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:30955326T>G	ENST00000376296.3	+	2	1615	c.1374T>G	c.(1372-1374)acT>acG	p.T458T	MUC21_ENST00000486149.2_Silent_p.T4T	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	458					cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCACACAACTTCCCATAGTG	0.597																																																	0													121.0	115.0	117.0					6																	30955326		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1374T>G	6.37:g.30955326T>G			B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NULL	p.T458	ENST00000376296.3	37	c.1374	CCDS34388.1	6																																																																																			MUC21	-	NULL	ENSG00000204544		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	HGNC	protein_coding	OTTHUMT00000128579.3	-	0.00	140	0	T	NM_001010909		30955326	+1	tier1	-	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	7.03	119	9	SNP	0.000	G
MTHFD1L	25902	genome.wustl.edu	37	6	151265637	151265637	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:151265637A>G	ENST00000367321.3	+	14	1730	c.1456A>G	c.(1456-1458)Act>Gct	p.T486A		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	486	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		CCTTCACTTGACTGGAGACAT	0.453																																																	0													47.0	43.0	45.0					6																	151265637		2203	4300	6503	SO:0001583	missense	0			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.1456A>G	6.37:g.151265637A>G	ENSP00000356290:p.Thr486Ala		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.T486A	ENST00000367321.3	37	c.1456	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	A	22.1	4.250429	0.80024	.	.	ENSG00000120254	ENST00000367321	T	0.35973	1.28	5.51	4.34	0.51931	.	0.048603	0.85682	D	0.000000	T	0.68924	0.3054	H	0.99261	4.49	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.986;0.999	T	0.80982	-0.1139	10	0.87932	D	0	.	11.9303	0.52843	0.8697:0.0:0.0:0.1303	.	487;241;486	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	A	486	ENSP00000356290:T486A	ENSP00000356290:T486A	T	+	1	0	MTHFD1L	151307330	1.000000	0.71417	0.892000	0.35008	0.994000	0.84299	9.227000	0.95236	0.910000	0.36722	0.533000	0.62120	ACT	MTHFD1L	-	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase	ENSG00000120254		0.453	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1		0.00	39	0	A	NM_015440		151265637	+1			no_errors	ENST00000367321	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23895180	23895180	+	Missense_Mutation	SNP	G	G	A	rs121913637		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:23895180G>A	ENST00000355349.3	-	19	2317	c.2155C>T	c.(2155-2157)Cgg>Tgg	p.R719W		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	719	Myosin motor.		R -> Q (in CMH1). {ECO:0000269|PubMed:10521296, ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:15358028, ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:16199542, ECO:0000269|PubMed:18403758, ECO:0000269|PubMed:7848441}.|R -> W (in CMH1). {ECO:0000269|PubMed:11968089, ECO:0000269|PubMed:12081993, ECO:0000269|PubMed:12707239, ECO:0000269|PubMed:12974739, ECO:0000269|PubMed:15858117, ECO:0000269|PubMed:7874131, ECO:0000269|PubMed:8282798, ECO:0000269|PubMed:9544842, ECO:0000269|PubMed:9822100, ECO:0000269|PubMed:9829907}.		adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CACCTCTGCCGGAAGTCCCCG	0.607																																																	0			GRCh37	CM941086	MYH7	M	rs121913637						58.0	58.0	58.0					14																	23895180		2203	4300	6503	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.2155C>T	14.37:g.23895180G>A	ENSP00000347507:p.Arg719Trp		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R719W	ENST00000355349.3	37	c.2155	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186164	0.78789	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.95482	-3.72	5.03	3.08	0.35506	Myosin head, motor domain (2);	.	.	.	.	D	0.96565	0.8879	M	0.73372	2.23	0.41861	D	0.990227	D	0.65815	0.995	P	0.58820	0.846	D	0.97059	0.9769	9	0.87932	D	0	.	14.4814	0.67585	0.0:0.0:0.5317:0.4683	.	719	P12883	MYH7_HUMAN	W	719	ENSP00000347507:R719W	ENSP00000347507:R719W	R	-	1	2	MYH7	22965020	0.929000	0.31497	1.000000	0.80357	0.997000	0.91878	1.166000	0.31834	1.302000	0.44855	0.655000	0.94253	CGG	MYH7	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom	ENSG00000092054		0.607	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	-	0.00	150	0	G	NM_000257		23895180	-1	tier1	rs121913637	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	13.16	99	15	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	101910908	101910908	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:101910908G>A	ENST00000251127.6	-	11	1233	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	NALCN_ENST00000376196.3_Silent_p.S384S|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	384					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTGGAAAACGGATGACCGCA	0.468																																																	0													70.0	60.0	63.0					13																	101910908		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1152C>T	13.37:g.101910908G>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.S384	ENST00000251127.6	37	c.1152	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	36	0	G	NM_052867		101910908	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.000	A
NAV2	89797	genome.wustl.edu	37	11	19970543	19970543	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:19970543A>G	ENST00000396087.3	+	11	2730	c.2631A>G	c.(2629-2631)gaA>gaG	p.E877E	NAV2_ENST00000396085.1_Silent_p.E854E|NAV2_ENST00000527559.2_Silent_p.E806E|NAV2_ENST00000540292.1_Silent_p.E808E|NAV2_ENST00000349880.4_Silent_p.E854E|NAV2_ENST00000360655.4_Silent_p.E790E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	877					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGACCTGGAAGGCATCAGCA	0.597																																																	0													68.0	64.0	66.0					11																	19970543		2199	4293	6492	SO:0001819	synonymous_variant	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2631A>G	11.37:g.19970543A>G			A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.E877	ENST00000396087.3	37	c.2631	CCDS58126.1	11																																																																																			NAV2	-	NULL	ENSG00000166833		0.597	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	-	0.00	26	0	A	NM_145117		19970543	+1	tier1	-	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	23.53	26	8	SNP	0.752	G
NDC80	10403	genome.wustl.edu	37	18	2579004	2579004	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:2579004A>G	ENST00000261597.4	+	6	737	c.555A>G	c.(553-555)ttA>ttG	p.L185L		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	185	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore (GO:0008608)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)				NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TGGCAGCCTTAGTTTGGCTAA	0.383																																																	0													92.0	82.0	85.0					18																	2579004		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017790	CCDS11827.1	18p11.31	2013-01-17	2013-01-17	2007-03-02	ENSG00000080986	ENSG00000080986			16909	protein-coding gene	gene with protein product		607272	"""highly expressed in cancer, rich in leucine heptad repeats (yeast)"", ""kinetochore associated 2"", ""NDC80 kinetochore complex component homolog (S. cerevisiae)"""	KNTC2		9315664, 12351790	Standard	NM_006101		Approved	HEC, HEC1, hsNDC80, TID3	uc002kli.3	O14777	OTTHUMG00000131483	ENST00000261597.4:c.555A>G	18.37:g.2579004A>G			Q6PJX2	Silent	SNP	pfam_Kinetochore_Ndc80,superfamily_t-SNARE	p.L185	ENST00000261597.4	37	c.555	CCDS11827.1	18																																																																																			NDC80	-	pfam_Kinetochore_Ndc80	ENSG00000080986		0.383	NDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDC80	HGNC	protein_coding	OTTHUMT00000254327.1	-	0.00	69	0	A	NM_006101		2579004	+1	tier1	-	no_errors	ENST00000261597	ensembl	human	known	74_37	silent	17.78	74	16	SNP	1.000	G
NDUFAF5	79133	genome.wustl.edu	37	20	13767912	13767912	+	Intron	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:13767912A>C	ENST00000378106.5	+	2	341				ESF1_ENST00000202816.1_5'Flank|NDUFAF5_ENST00000475968.1_Intron|NDUFAF5_ENST00000463598.1_Intron	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5						mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)										ATACTGGAAAAAGAGTGTTAC	0.413																																																	0													123.0	114.0	117.0					20																	13767912		2203	4300	6503	SO:0001627	intron_variant	0				CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.223-46A>C	20.37:g.13767912A>C			A8K166|Q6GPH3|Q9H6F4	RNA	SNP	-	NULL	ENST00000378106.5	37	NULL	CCDS13118.1	20																																																																																			NDUFAF5	-	-	ENSG00000101247		0.413	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF5	HGNC	protein_coding	OTTHUMT00000078057.2	-	0.00	30	0	A	NM_001039375		13767912	+1	tier1	-	no_errors	ENST00000469177	ensembl	human	known	74_37	rna	13.16	33	5	SNP	0.000	C
NELL1	4745	genome.wustl.edu	37	11	21306075	21306075	+	Intron	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:21306075T>G	ENST00000357134.5	+	14	1701				NELL1_ENST00000532434.1_Intron|NELL1_ENST00000298925.5_Intron|NELL1_ENST00000325319.5_Intron|NELL1_ENST00000529218.1_3'UTR	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TCAGCTCACCTTAGAAGACAT	0.488																																																	0																																										SO:0001627	intron_variant	0			AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1549+55075T>G	11.37:g.21306075T>G			B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	RNA	SNP	-	NULL	ENST00000357134.5	37	NULL	CCDS7855.1	11																																																																																			NELL1	-	-	ENSG00000165973		0.488	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL1	HGNC	protein_coding	OTTHUMT00000387588.1	-	0.00	28	0	T	NM_006157		21306075	+1	tier1	-	no_errors	ENST00000529218	ensembl	human	known	74_37	rna	13.95	37	6	SNP	0.975	G
NFKB1	4790	genome.wustl.edu	37	4	103514703	103514703	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:103514703G>A	ENST00000505458.1	+	12	1462	c.1185G>A	c.(1183-1185)ggG>ggA	p.G395G	NFKB1_ENST00000226574.4_Silent_p.G396G|NFKB1_ENST00000600343.1_Silent_p.G215G|NFKB1_ENST00000394820.4_Silent_p.G395G			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	395	Gly-rich.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GTGGAGGAGGGGGCACTGGAA	0.468																																																	0													111.0	122.0	118.0					4																	103514703		2203	4300	6503	SO:0001819	synonymous_variant	0			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1185G>A	4.37:g.103514703G>A			A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Silent	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt	p.G396	ENST00000505458.1	37	c.1188	CCDS54783.1	4																																																																																			NFKB1	-	NULL	ENSG00000109320		0.468	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-	0.00	55	0	G			103514703	+1	tier1	-	no_errors	ENST00000226574	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.007	A
NGFR	4804	genome.wustl.edu	37	17	47583763	47583763	+	Missense_Mutation	SNP	A	A	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:47583763A>T	ENST00000172229.3	+	3	436	c.311A>T	c.(310-312)gAc>gTc	p.D104V	NGFR_ENST00000504201.1_Missense_Mutation_p.D10V|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	104					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GAGGCCGACGACGCCGTGTGC	0.711																																																	0													16.0	17.0	16.0					17																	47583763		2185	4248	6433	SO:0001583	missense	0			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.311A>T	17.37:g.47583763A>T	ENSP00000172229:p.Asp104Val		B2R961|B4E096	Missense_Mutation	SNP	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16	p.D104V	ENST00000172229.3	37	c.311	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	A	33	5.268097	0.95429	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.93547	-3.24;-3.07	5.55	5.55	0.83447	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.042276	0.85682	D	0.000000	D	0.96364	0.8814	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96890	0.9652	10	0.87932	D	0	-36.33	15.348	0.74355	1.0:0.0:0.0:0.0	.	104	P08138	TNR16_HUMAN	V	104;10	ENSP00000172229:D104V;ENSP00000421731:D10V	ENSP00000172229:D104V	D	+	2	0	NGFR	44938762	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	9.010000	0.93611	2.093000	0.63338	0.459000	0.35465	GAC	NGFR	-	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg	ENSG00000064300		0.711	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	HGNC	protein_coding	OTTHUMT00000365150.1	-	0.00	47	0	A			47583763	+1	tier1	-	no_errors	ENST00000172229	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
NKPD1	284353	genome.wustl.edu	37	19	45655825	45655825	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:45655825G>A	ENST00000438936.2	-	3	1415	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_Missense_Mutation_p.R402C|NKPD1_ENST00000429338.1_Missense_Mutation_p.R402C|NKPD1_ENST00000317951.4_Missense_Mutation_p.R624C			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	402	KAP NTPase.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		TTGACGATGCGCCGCATGGAC	0.697																																																	0													14.0	15.0	15.0					19																	45655825		2052	4181	6233	SO:0001583	missense	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1204C>T	19.37:g.45655825G>A	ENSP00000401739:p.Arg402Cys		B7ZLG6|D6RH15|Q8N2A2	Missense_Mutation	SNP	pfam_KAP_NTPase	p.R624C	ENST00000438936.2	37	c.1870		19	.	.	.	.	.	.	.	.	.	.	G	18.46	3.627774	0.66901	.	.	ENSG00000179846	ENST00000317951;ENST00000438936;ENST00000429338	T;T;T	0.43294	0.95;0.95;0.95	5.01	5.01	0.66863	KAP P-loop (1);	0.058107	0.64402	D	0.000003	T	0.60366	0.2263	L	0.55481	1.735	0.58432	D	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.62651	-0.6809	10	0.87932	D	0	-29.8932	15.8391	0.78831	0.0:0.0:1.0:0.0	.	402	Q17RQ9	NKPD1_HUMAN	C	624;402;402	ENSP00000321976:R624C;ENSP00000401739:R402C;ENSP00000404706:R402C	ENSP00000321976:R624C	R	-	1	0	NKPD1	50347665	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	1.832000	0.39151	2.603000	0.88011	0.561000	0.74099	CGC	NKPD1	-	pfam_KAP_NTPase	ENSG00000179846		0.697	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2	-	0.00	60	0	G	NM_198478		45655825	-1	tier1	-	no_errors	ENST00000317951	ensembl	human	known	74_37	missense	30.56	25	11	SNP	1.000	A
NLGN4X	57502	genome.wustl.edu	37	X	5821829	5821829	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:5821829G>A	ENST00000381095.3	-	5	1517	c.890C>T	c.(889-891)aCt>aTt	p.T297I	NLGN4X_ENST00000381093.2_Missense_Mutation_p.T317I|NLGN4X_ENST00000275857.6_Missense_Mutation_p.T297I|NLGN4X_ENST00000381092.1_Missense_Mutation_p.T297I|NLGN4X_ENST00000538097.1_Missense_Mutation_p.T297I	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	297					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CAATATCCGAGTGTACTTGGC	0.562																																																	0													112.0	82.0	92.0					X																	5821829		2203	4298	6501	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.890C>T	X.37:g.5821829G>A	ENSP00000370485:p.Thr297Ile		Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.T317I	ENST00000381095.3	37	c.950	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076263	0.76415	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.59364	0.27;0.27;0.27;0.27;0.27	3.93	3.93	0.45458	Carboxylesterase, type B (1);	.	.	.	.	T	0.74816	0.3766	M	0.78223	2.4	0.80722	D	1	D;D;D	0.71674	0.994;0.997;0.998	D;D;D	0.80764	0.926;0.99;0.994	T	0.77550	-0.2546	8	.	.	.	.	14.4947	0.67678	0.0:0.0:1.0:0.0	.	354;297;317	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	I	297;317;297;297;297	ENSP00000370485:T297I;ENSP00000370483:T317I;ENSP00000275857:T297I;ENSP00000370482:T297I;ENSP00000439203:T297I	.	T	-	2	0	NLGN4X	5831829	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.442000	0.90317	1.579000	0.49836	0.600000	0.82982	ACT	NLGN4X	-	pfam_CarbesteraseB	ENSG00000146938		0.562	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	-	0.00	60	0	G	NM_020742		5821829	-1	tier1	-	no_errors	ENST00000381093	ensembl	human	known	74_37	missense	51.06	23	24	SNP	1.000	A
NLRP11	204801	genome.wustl.edu	37	19	56329312	56329312	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:56329312G>A	ENST00000589093.1	-	2	322	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Missense_Mutation_p.R77C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R77C|NLRP11_ENST00000443188.1_Missense_Mutation_p.R77C			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	77	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.R77C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCTTCCTTACGCATCATTGAA	0.448																																																	1	Substitution - Missense(1)	large_intestine(1)											129.0	117.0	121.0					19																	56329312		2203	4300	6503	SO:0001583	missense	0			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.229C>T	19.37:g.56329312G>A	ENSP00000466285:p.Arg77Cys		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R77C	ENST00000589093.1	37	c.229	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911594	0.33721	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.58652	0.32;0.32	2.84	-5.68	0.02436	Pyrin (2);DEATH-like (2);	.	.	.	.	T	0.54791	0.1880	L	0.36672	1.1	0.09310	N	1	D	0.71674	0.998	D	0.69479	0.964	T	0.51148	-0.8742	9	0.72032	D	0.01	.	1.4182	0.02306	0.1187:0.2578:0.2669:0.3566	.	77	P59045	NAL11_HUMAN	C	77	ENSP00000409898:R77C;ENSP00000353251:R77C	ENSP00000353251:R77C	R	-	1	0	NLRP11	61021124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.161000	0.03144	-1.531000	0.01749	-0.219000	0.12488	CGT	NLRP11	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000179873		0.448	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	-	0.00	46	0	G	NM_145007		56329312	-1	tier1	-	no_errors	ENST00000443188	ensembl	human	known	74_37	missense	35.90	25	14	SNP	0.000	A
NOTCH1	4851	genome.wustl.edu	37	9	139412339	139412339	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:139412339A>G	ENST00000277541.6	-	8	1381	c.1306T>C	c.(1306-1308)Ttc>Ctc	p.F436L	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	436	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCACTCGAAGGAGCCCAGC	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													44.0	50.0	48.0					9																	139412339		2192	4286	6478	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1306T>C	9.37:g.139412339A>G	ENSP00000277541:p.Phe436Leu		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.F436L	ENST00000277541.6	37	c.1306	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	A	27.6	4.846237	0.91277	.	.	ENSG00000148400	ENST00000277541	D	0.95853	-3.83	4.57	4.57	0.56435	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97876	0.9302	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.98626	1.0669	10	0.72032	D	0.01	.	13.105	0.59241	1.0:0.0:0.0:0.0	.	436	P46531	NOTC1_HUMAN	L	436	ENSP00000277541:F436L	ENSP00000277541:F436L	F	-	1	0	NOTCH1	138532160	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.051000	0.93849	1.696000	0.51158	0.379000	0.24179	TTC	NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	51	0	A	NM_017617		139412339	-1			no_errors	ENST00000277541	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G
NPIPB15	440348	genome.wustl.edu	37	16	74423763	74423763	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:74423763G>A	ENST00000429990.1	+	5	682	c.586G>A	c.(586-588)Gag>Aag	p.E196K				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	196						extracellular region (GO:0005576)											GCGGCGGGCAGAGGACTACCA	0.458																																																	0													1.0	1.0	1.0					16																	74423763		57	162	219	SO:0001583	missense	0			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.586G>A	16.37:g.74423763G>A	ENSP00000411140:p.Glu196Lys		C9J9U8	Missense_Mutation	SNP	NULL	p.E196K	ENST00000429990.1	37	c.586		16	.	.	.	.	.	.	.	.	.	.	g	8.020	0.759511	0.15846	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.58652	0.32	0.514	0.514	0.17007	.	.	.	.	.	T	0.67915	0.2944	L	0.59436	1.845	0.09310	N	1	D	0.76494	0.999	D	0.87578	0.998	T	0.54788	-0.8241	8	0.54805	T	0.06	.	.	.	.	.	135	A6NHN6	NPPL2_HUMAN	K	74;196	ENSP00000411140:E196K	ENSP00000411140:E196K	E	+	1	0	NPIPL2	72981264	1.000000	0.71417	0.009000	0.14445	0.008000	0.06430	0.718000	0.25866	0.564000	0.29238	0.398000	0.26397	GAG	NPIPB15	-	NULL	ENSG00000196436		0.458	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPB15	HGNC	protein_coding	OTTHUMT00000346597.2	-	0.00	104	0	G	NM_001018059		74423763	+1	tier1	-	no_errors	ENST00000429990	ensembl	human	known	74_37	missense	20.87	91	24	SNP	0.010	A
NPTX2	4885	genome.wustl.edu	37	7	98254301	98254301	+	Silent	SNP	C	C	T	rs573416055		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:98254301C>T	ENST00000265634.3	+	3	876	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	237	Pentaxin.				synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19245	0.0		0.001	False		,,,				2504	0.0																0													222.0	177.0	192.0					7																	98254301		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5657.1	7q21.3-q22.1	2008-04-30			ENSG00000106236	ENSG00000106236			7953	protein-coding gene	gene with protein product	"""apexin"""	600750				8530029	Standard	NM_002523		Approved		uc003upl.2	P47972	OTTHUMG00000154369	ENST00000265634.3:c.711C>T	7.37:g.98254301C>T			A4D267|Q86XV7|Q96G70	Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.Y237	ENST00000265634.3	37	c.711	CCDS5657.1	7																																																																																			NPTX2	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin	ENSG00000106236		0.587	NPTX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX2	HGNC	protein_coding	OTTHUMT00000334982.1	-	0.00	100	0	C	NM_002523		98254301	+1	tier1	-	no_errors	ENST00000265634	ensembl	human	known	74_37	silent	11.06	185	23	SNP	0.535	T
NUP210	23225	genome.wustl.edu	37	3	13429807	13429807	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:13429807T>C	ENST00000254508.5	-	5	762	c.680A>G	c.(679-681)tAc>tGc	p.Y227C		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	227					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GCCCACCTTGTAGACAGCCTC	0.592																																																	0													80.0	78.0	79.0					3																	13429807		2203	4300	6503	SO:0001583	missense	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.680A>G	3.37:g.13429807T>C	ENSP00000254508:p.Tyr227Cys		A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Y227C	ENST00000254508.5	37	c.680	CCDS33704.1	3	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580006	0.46006	.	.	ENSG00000132182	ENST00000254508	T	0.08634	3.07	5.59	4.42	0.53409	.	0.059472	0.64402	D	0.000001	T	0.28863	0.0716	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.01914	-1.1248	10	0.87932	D	0	0.0376	12.4786	0.55829	0.0:0.0:0.1402:0.8598	.	227	Q8TEM1	PO210_HUMAN	C	227	ENSP00000254508:Y227C	ENSP00000254508:Y227C	Y	-	2	0	NUP210	13404807	1.000000	0.71417	0.963000	0.40424	0.027000	0.11550	7.601000	0.82783	0.934000	0.37316	-0.321000	0.08615	TAC	NUP210	-	NULL	ENSG00000132182		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	-	0.00	23	0	T	NM_024923		13429807	-1	tier1	-	no_errors	ENST00000254508	ensembl	human	known	74_37	missense	26.92	19	7	SNP	1.000	C
OCA2	4948	genome.wustl.edu	37	15	28200304	28200305	+	Splice_Site	INS	-	-	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:28200304_28200305insT	ENST00000354638.3	-	17	1996_1997	c.1841_1842insA	c.(1840-1842)aag>aaAg	p.K614fs	OCA2_ENST00000353809.5_Splice_Site_p.K590fs|OCA2_ENST00000382996.2_Splice_Site_p.K614fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCTGGGTACCTTTTTTTGGAG	0.441									Oculocutaneous Albinism																																								0			GRCh37	CD000269|CM952147	OCA2	D|M																																				SO:0001630	splice_region_variant	0	Familial Cancer Database			CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1->A	15.37:g.28200311_28200311dupT			Q15211|Q15212|Q96EN1|Q9UMI5	Frame_Shift_Ins	INS	pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	p.H615fs	ENST00000354638.3	37	c.1842_1841	CCDS10020.1	15																																																																																			OCA2	-	pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB	ENSG00000104044		0.441	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1		0.00	47	0	-	NM_000275	Frame_Shift_Ins	28200305	-1	tier1		no_errors	ENST00000354638	ensembl	human	known	74_37	frame_shift_ins	13.64	38	6	INS	1.000:1.000	T
OLFM3	118427	genome.wustl.edu	37	1	102269726	102269726	+	3'UTR	SNP	C	C	T	rs566284191		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:102269726C>T	ENST00000338858.5	-	0	1504				OLFM3_ENST00000370103.4_3'UTR|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR			Q96PB7	NOE3_HUMAN	olfactomedin 3						eye photoreceptor cell development (GO:0042462)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAGAAAAAAACGGAAGGGGTC	0.328													C|||	1	0.000199681	0.0	0.0	5008	,	,		20519	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	0			AF397392	CCDS30781.1, CCDS72832.1	1p22	2008-05-23			ENSG00000118733	ENSG00000118733			17990	protein-coding gene	gene with protein product	"""optimedin"""	607567				12019210, 16115881	Standard	NM_001288821		Approved	NOE3	uc001dug.2	Q96PB7	OTTHUMG00000010941	ENST00000338858.5:c.*68G>A	1.37:g.102269726C>T			Q5T3V6|Q6IMI7|Q6IMI8|Q6IMI9|Q6IMJ1|Q8TBG1|Q96PB2|Q96PB3|Q96PB4|Q96PB5|Q96PB6	RNA	SNP	-	NULL	ENST00000338858.5	37	NULL		1																																																																																			OLFM3	-	-	ENSG00000118733		0.328	OLFM3-001	KNOWN	basic|appris_principal	protein_coding	OLFM3	HGNC	protein_coding	OTTHUMT00000030142.1	-	0.00	42	0	C			102269726	-1	tier1	-	no_errors	ENST00000462354	ensembl	human	known	74_37	rna	44.00	14	11	SNP	0.000	T
OR1K1	392392	genome.wustl.edu	37	9	125562456	125562456	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:125562456A>C	ENST00000277309.2	+	1	87	c.55A>C	c.(55-57)Aca>Cca	p.T19P		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						ATTGGGACTGACAACAAGTCC	0.527																																																	0													87.0	83.0	85.0					9																	125562456		2203	4300	6503	SO:0001583	missense	0			AL359512	CCDS35132.1	9q33	2013-09-20			ENSG00000165204	ENSG00000165204		"""GPCR / Class A : Olfactory receptors"""	8212	protein-coding gene	gene with protein product							Standard	NM_080859		Approved	hg99, MNAB	uc011lze.2	Q8NGR3	OTTHUMG00000020625	ENST00000277309.2:c.55A>C	9.37:g.125562456A>C	ENSP00000277309:p.Thr19Pro		B9EH41|Q4VXB7|Q96R23	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T19P	ENST00000277309.2	37	c.55	CCDS35132.1	9	.	.	.	.	.	.	.	.	.	.	A	4.279	0.050895	0.08243	.	.	ENSG00000165204	ENST00000277309	T	0.00438	7.42	4.32	0.138	0.14793	.	0.222293	0.22838	U	0.055016	T	0.00271	0.0008	L	0.38838	1.175	0.09310	N	1	P	0.41546	0.754	B	0.44044	0.439	T	0.47661	-0.9100	10	0.29301	T	0.29	.	2.2984	0.04156	0.3233:0.4191:0.1006:0.1569	.	19	Q8NGR3	OR1K1_HUMAN	P	19	ENSP00000277309:T19P	ENSP00000277309:T19P	T	+	1	0	OR1K1	124602277	0.000000	0.05858	0.029000	0.17559	0.534000	0.34807	-0.726000	0.04936	0.194000	0.20326	0.533000	0.62120	ACA	OR1K1	-	NULL	ENSG00000165204		0.527	OR1K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1K1	HGNC	protein_coding	OTTHUMT00000053958.1	-	0.00	32	0	A			125562456	+1	tier1	-	no_errors	ENST00000277309	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.090	C
OR4D9	390199	genome.wustl.edu	37	11	59282910	59282910	+	Missense_Mutation	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:59282910C>A	ENST00000329328.3	+	1	525	c.525C>A	c.(523-525)gaC>gaA	p.D175E		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATGTTCTTGACACTTTCTACT	0.517																																																	0													155.0	143.0	147.0					11																	59282910		2201	4295	6496	SO:0001583	missense	0			AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.525C>A	11.37:g.59282910C>A	ENSP00000328563:p.Asp175Glu		Q6IFF3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D175E	ENST00000329328.3	37	c.525	CCDS31564.1	11	.	.	.	.	.	.	.	.	.	.	C	16.14	3.039244	0.55003	.	.	ENSG00000172742	ENST00000329328	T	0.00123	8.7	4.33	-1.84	0.07809	GPCR, rhodopsin-like superfamily (1);	0.328099	0.21336	U	0.076204	T	0.00356	0.0011	M	0.79258	2.445	0.09310	N	1	D	0.55605	0.972	D	0.65573	0.936	T	0.35724	-0.9777	10	0.87932	D	0	-2.241	9.7045	0.40207	0.0:0.4703:0.0:0.5297	.	175	Q8NGE8	OR4D9_HUMAN	E	175	ENSP00000328563:D175E	ENSP00000328563:D175E	D	+	3	2	OR4D9	59039486	0.000000	0.05858	0.033000	0.17914	0.980000	0.70556	-0.764000	0.04735	-0.187000	0.10516	0.557000	0.71058	GAC	OR4D9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172742		0.517	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D9	HGNC	protein_coding	OTTHUMT00000394237.1	-	0.00	79	0	C	NM_001004711		59282910	+1	tier1	-	no_errors	ENST00000329328	ensembl	human	known	74_37	missense	33.06	81	40	SNP	0.000	A
OR4N4	283694	genome.wustl.edu	37	15	22382597	22382597	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:22382597A>C	ENST00000328795.4	+	1	216	c.125A>C	c.(124-126)aAt>aCt	p.N42T	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	42						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(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCCTGGAAATTTTCTCATT	0.443																																																	0													200.0	199.0	199.0					15																	22382597		2194	4278	6472	SO:0001583	missense	0			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.125A>C	15.37:g.22382597A>C	ENSP00000332500:p.Asn42Thr		Q6IEY3|Q6IF56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N42T	ENST00000328795.4	37	c.125	CCDS32173.1	15	.	.	.	.	.	.	.	.	.	.	.	11.92	1.783776	0.31593	.	.	ENSG00000183706	ENST00000328795	T	0.75477	-0.94	3.24	3.24	0.37175	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000090	D	0.90504	0.7025	H	0.98802	4.335	0.36724	D	0.881356	D	0.89917	1.0	D	0.97110	1.0	D	0.93235	0.6621	10	0.87932	D	0	-11.2781	9.793	0.40717	1.0:0.0:0.0:0.0	.	42	Q8N0Y3	OR4N4_HUMAN	T	42	ENSP00000332500:N42T	ENSP00000332500:N42T	N	+	2	0	OR4N4	19883961	1.000000	0.71417	0.999000	0.59377	0.026000	0.11368	4.536000	0.60636	1.465000	0.48006	0.164000	0.16699	AAT	OR4N4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000183706		0.443	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N4	HGNC	protein_coding	OTTHUMT00000414922.1	-	0.00	154	0	A			22382597	+1	tier1	-	no_errors	ENST00000328795	ensembl	human	known	74_37	missense	12.09	160	22	SNP	1.000	C
OR5B12	390191	genome.wustl.edu	37	11	58207475	58207475	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:58207475G>A	ENST00000302572.2	-	1	171	c.150C>T	c.(148-150)gaC>gaT	p.D50D		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAGACAGGAGTCCAGTAGAA	0.493																																																	0													72.0	79.0	77.0					11																	58207475		2201	4295	6496	SO:0001819	synonymous_variant	0			AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.150C>T	11.37:g.58207475G>A			B2RNL2|Q6IEV5	Silent	SNP	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.D50	ENST00000302572.2	37	c.150	CCDS31551.1	11																																																																																			OR5B12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172362		0.493	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B12	HGNC	protein_coding	OTTHUMT00000394987.1	-	0.00	51	0	G	NM_001004733		58207475	-1	tier1	-	no_errors	ENST00000302572	ensembl	human	known	74_37	silent	18.64	48	11	SNP	0.927	A
OR5H15	403274	genome.wustl.edu	37	3	97887762	97887762	+	Frame_Shift_Del	DEL	A	A	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:97887762delA	ENST00000356526.2	+	1	219	c.219delA	c.(217-219)atafs	p.I73fs		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						ATGCTTGGATATCATCCACAG	0.398																																																	0													73.0	74.0	74.0					3																	97887762		2202	4277	6479	SO:0001589	frameshift_variant	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.219delA	3.37:g.97887762delA	ENSP00000373195:p.Ile73fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S74fs	ENST00000356526.2	37	c.219	CCDS33799.1	3																																																																																			OR5H15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000233412		0.398	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1		0.00	95	0	A			97887762	+1	tier1		no_errors	ENST00000356526	ensembl	human	known	74_37	frame_shift_del	10.16	115	13	DEL	0.009	-
PACSIN1	29993	genome.wustl.edu	37	6	34494067	34494067	+	5'UTR	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:34494067C>A	ENST00000538621.1	+	0	230				PACSIN1_ENST00000244458.2_5'UTR|PACSIN1_ENST00000374043.2_5'UTR|PACSIN1_ENST00000486120.1_3'UTR	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						actin filament organization (GO:0007015)|establishment of protein localization to plasma membrane (GO:0090002)|membrane tubulation (GO:0097320)|neuron projection morphogenesis (GO:0048812)|positive regulation of dendrite development (GO:1900006)|protein localization to membrane (GO:0072657)|synaptic vesicle endocytosis (GO:0048488)	axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						CTTGTCCATCCCCCTGCGGCT	0.627																																																	0													57.0	52.0	54.0					6																	34494067		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AB037800	CCDS4793.1	6p21.3	2008-02-05			ENSG00000124507	ENSG00000124507			8570	protein-coding gene	gene with protein product	"""syndapin I"""	606512				11179684	Standard	NM_020804		Approved	SDPI	uc003ojp.4	Q9BY11	OTTHUMG00000014547	ENST00000538621.1:c.-16C>A	6.37:g.34494067C>A			Q9P2G8	RNA	SNP	-	NULL	ENST00000538621.1	37	NULL	CCDS4793.1	6																																																																																			PACSIN1	-	-	ENSG00000124507		0.627	PACSIN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PACSIN1	HGNC	protein_coding	OTTHUMT00000040236.1	-	0.00	56	0	C			34494067	+1	tier1	-	no_errors	ENST00000486120	ensembl	human	known	74_37	rna	12.28	50	7	SNP	0.000	A
PARM1	25849	genome.wustl.edu	37	4	75938258	75938258	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:75938258A>G	ENST00000307428.7	+	2	879	c.667A>G	c.(667-669)Aca>Gca	p.T223A	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	223					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AACACCCCCAACAACTGTGTC	0.532																																																	0													102.0	110.0	107.0					4																	75938258		2090	4219	6309	SO:0001583	missense	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.667A>G	4.37:g.75938258A>G	ENSP00000370224:p.Thr223Ala		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.T223A	ENST00000307428.7	37	c.667	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	A	1.189	-0.635864	0.03584	.	.	ENSG00000169116	ENST00000307428	T	0.40756	1.02	5.54	-0.819	0.10829	.	1.008970	0.07953	N	0.981253	T	0.19644	0.0472	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28459	-1.0043	10	0.07990	T	0.79	-0.8595	9.2289	0.37425	0.5536:0.0:0.4464:0.0	.	223	Q6UWI2	PARM1_HUMAN	A	223	ENSP00000370224:T223A	ENSP00000370224:T223A	T	+	1	0	PARM1	76157282	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	0.265000	0.18515	-0.589000	0.05874	-0.385000	0.06624	ACA	PARM1	-	NULL	ENSG00000169116		0.532	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0.00	30	0	A	NM_015393		75938258	+1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.000	G
PARP4	143	genome.wustl.edu	37	13	25016815	25016815	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:25016815T>A	ENST00000381989.3	-	29	3561	c.3456A>T	c.(3454-3456)aaA>aaT	p.K1152N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1152					cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAGGTTTGTTTTTTCATCT	0.284																																																	0													58.0	60.0	60.0					13																	25016815		2200	4295	6495	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3456A>T	13.37:g.25016815T>A	ENSP00000371419:p.Lys1152Asn		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.K1152N	ENST00000381989.3	37	c.3456	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	t	17.36	3.370686	0.61624	.	.	ENSG00000102699	ENST00000381989	T	0.64438	-0.1	4.65	2.68	0.31781	.	0.000000	0.85682	D	0.000000	T	0.73055	0.3538	M	0.74647	2.275	0.37855	D	0.929512	D	0.89917	1.0	D	0.83275	0.996	T	0.73017	-0.4115	10	0.72032	D	0.01	-24.5518	4.6845	0.12752	0.0:0.5547:0.0:0.4453	.	1152	Q9UKK3	PARP4_HUMAN	N	1152	ENSP00000371419:K1152N	ENSP00000371419:K1152N	K	-	3	2	PARP4	23914815	1.000000	0.71417	0.945000	0.38365	0.946000	0.59487	0.912000	0.28597	0.437000	0.26423	0.529000	0.55759	AAA	PARP4	-	NULL	ENSG00000102699		0.284	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1		0.00	58	0	T	NM_006437		25016815	-1			no_errors	ENST00000381989	ensembl	human	known	74_37	missense	14.55	47	8	SNP	0.998	A
PATZ1	23598	genome.wustl.edu	37	22	31723129	31723131	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:31723129_31723131delCTT	ENST00000266269.5	-	5	2439_2441	c.1810_1812delAAG	c.(1810-1812)aagdel	p.K604del	RP3-400N23.6_ENST00000440456.1_RNA|PATZ1_ENST00000405309.3_3'UTR|PATZ1_ENST00000351933.4_In_Frame_Del_p.K558del	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	604					male gonad development (GO:0008584)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GGCATGGGTACTTCTTCTCCCCA	0.562																																																	0																																										SO:0001651	inframe_deletion	0			AL096880	CCDS13894.1, CCDS13895.1, CCDS13896.1, CCDS46691.1	22q12.2	2013-01-09	2006-09-19	2006-09-19	ENSG00000100105	ENSG00000100105		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13071	protein-coding gene	gene with protein product		605165	"""zinc finger protein 278"""	ZNF278		10591208, 18241078, 18401526	Standard	NM_014323		Approved	MAZR, dJ400N23, ZBTB19, ZSG, RIAZ, PATZ	uc003akq.3	Q9HBE1	OTTHUMG00000151254	ENST00000266269.5:c.1810_1812delAAG	22.37:g.31723132_31723134delCTT	ENSP00000266269:p.Lys604del		Q9HBE2|Q9HBE3|Q9P1A9|Q9UDU0|Q9Y529	In_Frame_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K604in_frame_del	ENST00000266269.5	37	c.1812_1810	CCDS13894.1	22																																																																																			PATZ1	-	NULL	ENSG00000100105		0.562	PATZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATZ1	HGNC	protein_coding	OTTHUMT00000321932.1		0.00	33	0	CTT	NM_032052		31723131	-1	tier1		no_errors	ENST00000266269	ensembl	human	known	74_37	in_frame_del	14.81	23	4	DEL	1.000:1.000:1.000	-
PCDHA10	56139	genome.wustl.edu	37	5	140236755	140236755	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140236755T>C	ENST00000307360.5	+	1	1122	c.1122T>C	c.(1120-1122)tcT>tcC	p.S374S	PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.S374S|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	374	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTTTCTGACCATGATT	0.488																																																	0													155.0	137.0	143.0					5																	140236755		2196	4277	6473	SO:0001819	synonymous_variant	0			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1122T>C	5.37:g.140236755T>C			A1L493|O75280|Q9NRU2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S374	ENST00000307360.5	37	c.1122	CCDS54921.1	5																																																																																			PCDHA10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000250120		0.488	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA10	HGNC	protein_coding	OTTHUMT00000372895.2	-	0.00	107	0	T	NM_018901		140236755	+1	tier1	-	no_errors	ENST00000307360	ensembl	human	known	74_37	silent	10.23	79	9	SNP	0.000	C
PCDHB6	56130	genome.wustl.edu	37	5	140530084	140530084	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140530084T>G	ENST00000231136.1	+	1	246	c.246T>G	c.(244-246)gaT>gaG	p.D82E	PCDHB6_ENST00000543635.1_De_novo_Start_OutOfFrame	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	82	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACCCATGATTTACTGCTAA	0.527																																																	0													78.0	86.0	83.0					5																	140530084		2203	4300	6503	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.246T>G	5.37:g.140530084T>G	ENSP00000231136:p.Asp82Glu		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D82E	ENST00000231136.1	37	c.246	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	T	4.466	0.086354	0.08583	.	.	ENSG00000113211	ENST00000231136	T	0.27720	1.65	4.97	1.22	0.21188	Cadherin, N-terminal (1);Cadherin (3);	.	.	.	.	T	0.34106	0.0886	L	0.55017	1.72	0.80722	D	1	B	0.34255	0.445	B	0.43194	0.411	T	0.17684	-1.0361	9	0.56958	D	0.05	.	9.5691	0.39416	0.0:0.301:0.0:0.699	.	82	Q9Y5E3	PCDB6_HUMAN	E	82	ENSP00000231136:D82E	ENSP00000231136:D82E	D	+	3	2	PCDHB6	140510268	0.000000	0.05858	0.883000	0.34634	0.147000	0.21601	0.019000	0.13444	0.327000	0.23409	-0.375000	0.07067	GAT	PCDHB6	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin	ENSG00000113211		0.527	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2		0.00	43	0	T	NM_018939		140530084	+1			no_errors	ENST00000231136	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.102	G
PCDHB12	56124	genome.wustl.edu	37	5	140589229	140589229	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:140589229G>A	ENST00000239450.2	+	1	939	c.750G>A	c.(748-750)aaG>aaA	p.K250K	PCDHB12_ENST00000541609.1_Intron	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	250	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAGGTGAAGATTCTGGAGA	0.498																																																	0													147.0	154.0	151.0					5																	140589229		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.750G>A	5.37:g.140589229G>A			B4DDU1	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K250	ENST00000239450.2	37	c.750	CCDS4254.1	5																																																																																			PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.498	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	-	0.00	46	0	G	NM_018932		140589229	+1	tier1	-	no_errors	ENST00000239450	ensembl	human	known	74_37	silent	9.23	58	6	SNP	0.000	A
PCLO	27445	genome.wustl.edu	37	7	82538208	82538208	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82538208A>G	ENST00000333891.9	-	8	13759	c.13422T>C	c.(13420-13422)agT>agC	p.S4474S	PCLO_ENST00000423517.2_Silent_p.S4474S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGATGTTGACTGAGTGGTC	0.393																																																	0													120.0	112.0	114.0					7																	82538208		1871	4114	5985	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.13422T>C	7.37:g.82538208A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S4474	ENST00000333891.9	37	c.13422	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	37	0	A	NM_014510		82538208	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	13.64	38	6	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82595624	82595624	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82595624T>C	ENST00000333891.9	-	4	3817	c.3480A>G	c.(3478-3480)caA>caG	p.Q1160Q	PCLO_ENST00000423517.2_Silent_p.Q1160Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTGTTCTTGCTTTTTCA	0.393																																																	0													120.0	111.0	114.0					7																	82595624		1860	4110	5970	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3480A>G	7.37:g.82595624T>C				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q1160	ENST00000333891.9	37	c.3480	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.393	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	114	0	T	NM_014510		82595624	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	8.66	116	11	SNP	0.818	C
PCLO	27445	genome.wustl.edu	37	7	82791691	82791691	+	Missense_Mutation	SNP	G	G	A	rs370346756	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:82791691G>A	ENST00000333891.9	-	1	555	c.218C>T	c.(217-219)cCg>cTg	p.P73L	PCLO_ENST00000423517.2_Missense_Mutation_p.P73L	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q186E(1)|p.P73R(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGCAGCGGCCGGGGGGACGCT	0.607																																																	2	Substitution - Missense(2)	upper_aerodigestive_tract(2)											17.0	21.0	20.0					7																	82791691		2108	4223	6331	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.218C>T	7.37:g.82791691G>A	ENSP00000334319:p.Pro73Leu			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P73L	ENST00000333891.9	37	c.218	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922227	0.52653	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18338	2.22;2.22	4.52	4.52	0.55395	.	.	.	.	.	T	0.11324	0.0276	N	0.19112	0.55	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.003	T	0.06481	-1.0824	9	0.87932	D	0	.	8.6598	0.34086	0.1404:0.0:0.8596:0.0	.	73;73	Q9Y6V0-5;Q9Y6V0-6	.;.	L	73	ENSP00000334319:P73L;ENSP00000388393:P73L	ENSP00000334319:P73L	P	-	2	0	PCLO	82629627	0.997000	0.39634	0.993000	0.49108	0.987000	0.75469	4.191000	0.58372	2.325000	0.78763	0.555000	0.69702	CCG	PCLO	-	NULL	ENSG00000186472		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	108	0	G	NM_014510		82791691	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	26.15	96	34	SNP	0.998	A
PCSK2	5126	genome.wustl.edu	37	20	17389929	17389929	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:17389929T>G	ENST00000262545.2	+	6	880	c.565T>G	c.(565-567)Ttc>Gtc	p.F189V	PCSK2_ENST00000536609.1_Missense_Mutation_p.F154V|PCSK2_ENST00000377899.1_Missense_Mutation_p.F170V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	189	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGTTACGACTTCAGCAGCAA	0.493																																																	0													196.0	168.0	178.0					20																	17389929		2203	4300	6503	SO:0001583	missense	0			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.565T>G	20.37:g.17389929T>G	ENSP00000262545:p.Phe189Val		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.F189V	ENST00000262545.2	37	c.565	CCDS13125.1	20	.	.	.	.	.	.	.	.	.	.	T	15.67	2.902818	0.52227	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	D;D;D	0.88431	-2.38;-2.38;-2.38	5.91	5.91	0.95273	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.042860	0.85682	D	0.000000	D	0.91912	0.7439	M	0.63208	1.945	0.80722	D	1	D;B	0.56287	0.975;0.015	P;B	0.61874	0.895;0.062	D	0.90273	0.4309	10	0.28530	T	0.3	-31.8092	12.7401	0.57246	0.0:0.0:0.0:1.0	.	154;189	B4DFQ3;P16519	.;NEC2_HUMAN	V	170;189;154	ENSP00000367131:F170V;ENSP00000262545:F189V;ENSP00000437458:F154V	ENSP00000262545:F189V	F	+	1	0	PCSK2	17337929	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.620000	0.83070	2.254000	0.74563	0.533000	0.62120	TTC	PCSK2	-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom	ENSG00000125851		0.493	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	HGNC	protein_coding	OTTHUMT00000078120.2	-	0.00	90	0	T	NM_002594		17389929	+1	tier1	-	no_errors	ENST00000262545	ensembl	human	known	74_37	missense	17.59	89	19	SNP	1.000	G
PDE4DIP	9659	genome.wustl.edu	37	1	144892482	144892482	+	Intron	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:144892482G>A	ENST00000369354.3	-	22	3094				PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369351.3_Silent_p.L975L|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369356.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGTCCCAGACCCTGACAC	0.502			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													153.0	138.0	143.0					1																	144892482		2203	4296	6499	SO:0001627	intron_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2904+18C>T	1.37:g.144892482G>A			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.L975	ENST00000369354.3	37	c.2923	CCDS30824.1	1																																																																																			PDE4DIP	-	NULL	ENSG00000178104		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	-	0.00	112	0	G	NM_022359		144892482	-1	tier1	-	no_errors	ENST00000369351	ensembl	human	known	74_37	silent	16.07	94	18	SNP	0.114	A
PDGFRB	5159	genome.wustl.edu	37	5	149499620	149499620	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:149499620C>T	ENST00000261799.4	-	19	3122	c.2653G>A	c.(2653-2655)Gac>Aac	p.D885N		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACCACACGTCGCTCAGGGTG	0.567			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0													127.0	104.0	112.0					5																	149499620		2203	4300	6503	SO:0001583	missense	0			M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2653G>A	5.37:g.149499620C>T	ENSP00000261799:p.Asp885Asn		B5A957|Q8N5L4	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D885N	ENST00000261799.4	37	c.2653	CCDS4303.1	5	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990585	0.93106	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	D	0.98455	-4.94	4.69	4.69	0.59074	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.49916	D	0.000128	D	0.99074	0.9682	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99537	1.0962	10	0.72032	D	0.01	.	17.8003	0.88585	0.0:1.0:0.0:0.0	.	885;885	A8KAM8;P09619	.;PGFRB_HUMAN	N	885;555	ENSP00000261799:D885N	ENSP00000261799:D885N	D	-	1	0	PDGFRB	149479813	1.000000	0.71417	0.869000	0.34112	0.556000	0.35491	7.651000	0.83577	2.416000	0.81992	0.655000	0.94253	GAC	PDGFRB	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000113721		0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	HGNC	protein_coding	OTTHUMT00000252332.1	-	0.00	54	0	C	NM_002609		149499620	-1	tier1	-	no_errors	ENST00000261799	ensembl	human	known	74_37	missense	20.51	31	8	SNP	1.000	T
PGM2L1	283209	genome.wustl.edu	37	11	74056564	74056564	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:74056564A>G	ENST00000298198.4	-	9	1479	c.1168T>C	c.(1168-1170)Tct>Cct	p.S390P		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	390					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					ATTTTAGAAGAGACTGTGGTG	0.333																																																	0													114.0	107.0	110.0					11																	74056564		2200	4293	6493	SO:0001583	missense	0			AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1168T>C	11.37:g.74056564A>G	ENSP00000298198:p.Ser390Pro		Q96MQ7|Q9UIK3	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III	p.S390P	ENST00000298198.4	37	c.1168	CCDS8231.1	11	.	.	.	.	.	.	.	.	.	.	A	25.0	4.594605	0.86953	.	.	ENSG00000165434	ENST00000298198	T	0.71103	-0.54	5.25	5.25	0.73442	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.115081	0.64402	D	0.000011	D	0.89829	0.6828	H	0.98388	4.22	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.93247	0.6631	10	0.87932	D	0	-20.9856	13.4021	0.60889	1.0:0.0:0.0:0.0	.	390	Q6PCE3	PGM2L_HUMAN	P	390	ENSP00000298198:S390P	ENSP00000298198:S390P	S	-	1	0	PGM2L1	73734212	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.096000	0.63516	0.528000	0.53228	TCT	PGM2L1	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000165434		0.333	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2L1	HGNC	protein_coding	OTTHUMT00000398324.1	-	0.00	37	0	A	NM_173582		74056564	-1	tier1	-	no_errors	ENST00000298198	ensembl	human	known	74_37	missense	18.92	30	7	SNP	1.000	G
PHACTR2	9749	genome.wustl.edu	37	6	144033198	144033198	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:144033198C>T	ENST00000427704.2	+	2	189	c.59C>T	c.(58-60)aCa>aTa	p.T20I	PHACTR2_ENST00000397980.3_Missense_Mutation_p.T31I|PHACTR2_ENST00000367582.3_Missense_Mutation_p.T31I|PHACTR2_ENST00000367584.4_Missense_Mutation_p.T88I|PHACTR2_ENST00000305766.6_Missense_Mutation_p.T20I|PHACTR2_ENST00000440869.2_Missense_Mutation_p.T31I	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	20							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GATGGCCCCACAGCAGGTTCC	0.408																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)												0													132.0	131.0	131.0					6																	144033198		1841	4089	5930	SO:0001583	missense	0			AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.59C>T	6.37:g.144033198C>T	ENSP00000391763:p.Thr20Ile		A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.T31I	ENST00000427704.2	37	c.92	CCDS47492.1	6	.	.	.	.	.	.	.	.	.	.	C	8.781	0.928171	0.18131	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000397980;ENST00000367583	T;T;T;T;T	0.30182	1.56;1.95;1.56;1.94;1.54	5.93	5.93	0.95920	.	0.474119	0.25225	N	0.032213	T	0.08802	0.0218	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.31548	0.302;0.328;0.178;0.22	B;B;B;B	0.36186	0.219;0.107;0.054;0.05	T	0.21518	-1.0243	10	0.36615	T	0.2	.	15.1085	0.72338	0.1415:0.8585:0.0:0.0	.	31;20;31;20	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	I	88;20;20;31;31;31;31;31	ENSP00000356556:T88I;ENSP00000391763:T20I;ENSP00000305530:T20I;ENSP00000417038:T31I;ENSP00000356554:T31I	ENSP00000305530:T20I	T	+	2	0	PHACTR2	144074891	0.137000	0.22531	0.028000	0.17463	0.883000	0.51084	2.197000	0.42696	2.814000	0.96858	0.591000	0.81541	ACA	PHACTR2	-	NULL	ENSG00000112419		0.408	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	PHACTR2	HGNC	protein_coding	OTTHUMT00000042528.2		0.00	43	0	C	NM_014721		144033198	+1			no_errors	ENST00000440869	ensembl	human	known	74_37	missense	9.09	30	3	SNP	0.006	T
PHYH	5264	genome.wustl.edu	37	10	13337564	13337564	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:13337564T>G	ENST00000263038.4	-	3	235	c.177A>C	c.(175-177)aaA>aaC	p.K59N	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000396920.3_Missense_Mutation_p.K40N	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	59					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	CTTCATAAAATTTTCTCTGTT	0.323																																																	0													80.0	82.0	81.0					10																	13337564		2202	4300	6502	SO:0001583	missense	0				CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.177A>C	10.37:g.13337564T>G	ENSP00000263038:p.Lys59Asn		A8MTS8|B1ALH5	Missense_Mutation	SNP	pfam_Phytyl_CoA_dOase	p.K59N	ENST00000263038.4	37	c.177	CCDS7097.1	10	.	.	.	.	.	.	.	.	.	.	T	13.95	2.389309	0.42410	.	.	ENSG00000107537	ENST00000263038;ENST00000396920;ENST00000479604	D;D;D	0.90133	-2.62;-2.62;-2.62	5.55	1.76	0.24704	.	0.463751	0.25425	N	0.030768	D	0.83381	0.5242	M	0.67953	2.075	0.32332	N	0.560964	B;P	0.36789	0.066;0.57	B;B	0.28916	0.028;0.096	T	0.78378	-0.2227	10	0.34782	T	0.22	-8.2102	1.6771	0.02823	0.1259:0.2192:0.1303:0.5246	.	40;59	B1ALH6;O14832	.;PAHX_HUMAN	N	59;40;59	ENSP00000263038:K59N;ENSP00000380126:K40N;ENSP00000420117:K59N	ENSP00000263038:K59N	K	-	3	2	PHYH	13377570	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	0.203000	0.17315	0.398000	0.25338	0.455000	0.32223	AAA	PHYH	-	NULL	ENSG00000107537		0.323	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	HGNC	protein_coding	OTTHUMT00000046845.2	-	0.00	59	0	T			13337564	-1	tier1	-	no_errors	ENST00000263038	ensembl	human	known	74_37	missense	13.64	38	6	SNP	0.997	G
PI15	51050	genome.wustl.edu	37	8	75761430	75761430	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:75761430G>A	ENST00000260113.2	+	6	898	c.719G>A	c.(718-720)tGt>tAt	p.C240Y	RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.C240Y	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	240						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GGGGGATCTTGTACTGACAAT	0.393																																																	0													202.0	176.0	185.0					8																	75761430		2203	4300	6503	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.719G>A	8.37:g.75761430G>A	ENSP00000260113:p.Cys240Tyr		Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.C240Y	ENST00000260113.2	37	c.719	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419744	0.83559	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.13538	2.58;2.58	5.15	5.15	0.70609	.	0.096535	0.85682	D	0.000000	T	0.54631	0.1870	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70695	-0.4801	10	0.87932	D	0	.	19.1672	0.93562	0.0:0.0:1.0:0.0	.	240	O43692	PI15_HUMAN	Y	240	ENSP00000260113:C240Y;ENSP00000428567:C240Y	ENSP00000260113:C240Y	C	+	2	0	PI15	75923985	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	9.208000	0.95075	2.833000	0.97629	0.585000	0.79938	TGT	PI15	-	NULL	ENSG00000137558		0.393	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1		0.00	56	0	G	NM_015886		75761430	+1			no_errors	ENST00000260113	ensembl	human	known	74_37	missense	5.56	51	3	SNP	1.000	A
PILRB	29990	genome.wustl.edu	37	7	99957139	99957139	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:99957139C>T	ENST00000452089.1	+	8	1693	c.634C>T	c.(634-636)Ctg>Ttg	p.L212L	PILRB_ENST00000610247.1_Silent_p.L212L|PILRB_ENST00000444073.1_Silent_p.L212L|PILRB_ENST00000609309.1_Silent_p.L212L|PILRB_ENST00000448382.1_Missense_Mutation_p.P264L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	212				Missing (in Ref. 2; CAC19193). {ECO:0000305}.	activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCTCCTCCTGTGGTGGAG	0.552																																																	0													76.0	82.0	80.0					7																	99957139		2202	4300	6502	SO:0001819	synonymous_variant	0			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.634C>T	7.37:g.99957139C>T			Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.P264L	ENST00000452089.1	37	c.791	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	C	2.174	-0.389297	0.04932	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	.	.	.	.	.	.	.	.	T	0.29321	0.0730	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27262	-1.0079	2	.	.	.	.	.	.	.	.	142	Q9UKJ0-2	.	L	142;264	.	.	P	+	2	0	PILRB	99795075	0.143000	0.22626	0.090000	0.20809	0.010000	0.07245	0.055000	0.14229	0.064000	0.16427	0.064000	0.15345	CCT	PILRB	-	NULL	ENSG00000121716		0.552	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2		0.00	60	0	C	NM_178238		99957139	+1			no_errors	ENST00000448382	ensembl	human	known	74_37	missense	7.69	204	17	SNP	0.114	T
PKD1	5310	genome.wustl.edu	37	16	2158502	2158502	+	Silent	SNP	C	C	T	rs370851999		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:2158502C>T	ENST00000262304.4	-	15	6874	c.6666G>A	c.(6664-6666)gcG>gcA	p.A2222A	PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Silent_p.A2222A	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2222	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.		Missing (in PKD1). {ECO:0000269|PubMed:11115377}.		anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGGCAGCGCCAGCCGCG	0.701																																																	0								C	,	2,4326		0,2,2162	17.0	18.0	17.0		6666,6666	-10.5	0.5	16		17	0,8518		0,0,4259	no	coding-synonymous,coding-synonymous	PKD1	NM_000296.3,NM_001009944.2	,	0,2,6421	TT,TC,CC		0.0,0.0462,0.0156	,	2222/4303,2222/4304	2158502	2,12844	2164	4259	6423	SO:0001819	synonymous_variant	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.6666G>A	16.37:g.2158502C>T			Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A2222	ENST00000262304.4	37	c.6666	CCDS32369.1	16																																																																																			PKD1	-	pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat	ENSG00000008710		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	-	0.00	60	0	C			2158502	-1	tier1	-	no_errors	ENST00000262304	ensembl	human	known	74_37	silent	8.11	68	6	SNP	0.303	T
PLCL1	5334	genome.wustl.edu	37	2	198953695	198953695	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:198953695C>T	ENST00000428675.1	+	3	3227	c.2829C>T	c.(2827-2829)gtC>gtT	p.V943V	PLCL1_ENST00000437704.2_Silent_p.V845V	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	943					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CTCCTTCAGTCTCACTTGTGA	0.458																																																	0													247.0	238.0	241.0					2																	198953695		2203	4300	6503	SO:0001819	synonymous_variant	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2829C>T	2.37:g.198953695C>T			Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.V943	ENST00000428675.1	37	c.2829	CCDS2326.2	2																																																																																			PLCL1	-	NULL	ENSG00000115896		0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0.00	59	0	C	NM_006226		198953695	+1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	silent	30.77	36	16	SNP	0.887	T
PLEC	5339	genome.wustl.edu	37	8	144991310	144991310	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144991310G>A	ENST00000322810.4	-	32	13259	c.13090C>T	c.(13090-13092)Ctc>Ttc	p.L4364F	PLEC_ENST00000527096.1_Missense_Mutation_p.L4250F|PLEC_ENST00000354958.2_Missense_Mutation_p.L4205F|PLEC_ENST00000436759.2_Missense_Mutation_p.L4254F|PLEC_ENST00000345136.3_Missense_Mutation_p.L4227F|PLEC_ENST00000354589.3_Missense_Mutation_p.L4227F|PLEC_ENST00000357649.2_Missense_Mutation_p.L4231F|PLEC_ENST00000356346.3_Missense_Mutation_p.L4213F|PLEC_ENST00000398774.2_Missense_Mutation_p.L4195F	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4364	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGATGGAGAGCGTGCCGGCG	0.657																																																	0													48.0	63.0	58.0					8																	144991310		2143	4231	6374	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13090C>T	8.37:g.144991310G>A	ENSP00000323856:p.Leu4364Phe		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L4364F	ENST00000322810.4	37	c.13090	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561660	0.27915	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44;-0.44	5.24	5.24	0.73138	.	0.000000	0.52532	U	0.000067	T	0.78444	0.4284	M	0.73217	2.22	0.54753	D	0.999987	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.999;0.997;0.999;0.999;0.999;0.999	T	0.79548	-0.1758	10	0.72032	D	0.01	.	9.301	0.37845	0.1581:0.0:0.8419:0.0	.	4254;4213;4205;4364;4195;4227;4231;4227	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	F	4227;4231;4227;4195;4364;4205;4213;4254;4250	ENSP00000344848:L4227F;ENSP00000350277:L4231F;ENSP00000346602:L4227F;ENSP00000381756:L4195F;ENSP00000323856:L4364F;ENSP00000347044:L4205F;ENSP00000348702:L4213F;ENSP00000388180:L4254F;ENSP00000434583:L4250F	ENSP00000323856:L4364F	L	-	1	0	PLEC	145063298	1.000000	0.71417	0.999000	0.59377	0.888000	0.51559	4.748000	0.62148	2.726000	0.93360	0.549000	0.68633	CTC	PLEC	-	NULL	ENSG00000178209		0.657	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	-	0.00	31	0	G	NM_000445		144991310	-1	tier1	-	no_errors	ENST00000322810	ensembl	human	known	74_37	missense	22.22	28	8	SNP	0.997	A
PLEKHH2	130271	genome.wustl.edu	37	2	43931168	43931168	+	Missense_Mutation	SNP	G	G	A	rs145437024	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:43931168G>A	ENST00000282406.4	+	9	1809	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	567					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGTCTGAGGCCTTCAATAT	0.358													G|||	4	0.000798722	0.0	0.0	5008	,	,		17341	0.0		0.004	False		,,,				2504	0.0																0								G	THR/ALA	4,4402	6.2+/-15.9	0,4,2199	106.0	103.0	104.0		1699	5.2	1.0	2	dbSNP_134	104	48,8552	31.2+/-83.2	0,48,4252	yes	missense	PLEKHH2	NM_172069.3	58	0,52,6451	AA,AG,GG		0.5581,0.0908,0.3998	benign	567/1494	43931168	52,12954	2203	4300	6503	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.1699G>A	2.37:g.43931168G>A	ENSP00000282406:p.Ala567Thr		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A567T	ENST00000282406.4	37	c.1699	CCDS1812.1	2	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	14.55	2.567870	0.45798	9.08E-4	0.005581	ENSG00000152527	ENST00000282406	T	0.73047	-0.71	5.19	5.19	0.71726	.	0.195130	0.44483	D	0.000441	T	0.56775	0.2008	L	0.40543	1.245	0.37165	D	0.902761	B;B;B	0.18461	0.001;0.015;0.028	B;B;B	0.17979	0.01;0.014;0.02	T	0.60722	-0.7207	10	0.27785	T	0.31	-13.9038	19.0794	0.93175	0.0:0.0:1.0:0.0	.	567;4;567	Q8IVE3;Q8IVE3-2;Q8IVE3-3	PKHH2_HUMAN;.;.	T	567	ENSP00000282406:A567T	ENSP00000282406:A567T	A	+	1	0	PLEKHH2	43784672	1.000000	0.71417	0.998000	0.56505	0.902000	0.53008	6.685000	0.74543	2.577000	0.86979	0.655000	0.94253	GCC	PLEKHH2	-	NULL	ENSG00000152527		0.358	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1		0.00	41	0	G	NM_172069		43931168	+1			no_errors	ENST00000282406	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.996	A
PLEKHM1	9842	genome.wustl.edu	37	17	43530941	43530941	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:43530941G>A	ENST00000430334.3	-	7	2410	c.2277C>T	c.(2275-2277)gcC>gcT	p.A759A	PLEKHM1_ENST00000421073.2_Silent_p.A670A|AC091132.1_ENST00000433601.1_RNA	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	759	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGCGTTTCCGGCCTGCAGCT	0.642																																																	0													4.0	5.0	5.0					17																	43530941		1932	3952	5884	SO:0001819	synonymous_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2277C>T	17.37:g.43530941G>A			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A759	ENST00000430334.3	37	c.2277	CCDS32671.1	17																																																																																			PLEKHM1	-	smart_Pleckstrin_homology	ENSG00000225190		0.642	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0.00	32	0	G	NM_014798		43530941	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	44.83	32	26	SNP	0.032	A
PLGRKT	55848	genome.wustl.edu	37	9	5431901	5431901	+	Missense_Mutation	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:5431901A>G	ENST00000223864.2	-	3	298	c.77T>C	c.(76-78)cTt>cCt	p.L26P	PLGRKT_ENST00000482696.1_5'UTR	NM_018465.3	NP_060935.2	Q9HBL7	PLRKT_HUMAN	plasminogen receptor, C-terminal lysine transmembrane protein	26					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of plasminogen activation (GO:0010756)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)											ACATACCTGAAGTCGAGCATT	0.313																																																	0													47.0	47.0	47.0					9																	5431901		2201	4295	6496	SO:0001583	missense	0			AF225420	CCDS6463.1	9p24.1	2012-04-12	2012-04-12	2012-04-12	ENSG00000107020	ENSG00000107020			23633	protein-coding gene	gene with protein product	"""uncharacterized hematopoietic stem/progenitor cells protein MDS030"", ""plasminogen receptor with a C-terminal lysine"""		"""chromosome 9 open reading frame 46"""	C9orf46		12477932	Standard	NM_018465		Approved	MDS030, FLJ14688, AD025, Plg-RKT	uc003zjc.3	Q9HBL7	OTTHUMG00000019501	ENST00000223864.2:c.77T>C	9.37:g.5431901A>G	ENSP00000223864:p.Leu26Pro		B2R6W0|Q9NZ44	Missense_Mutation	SNP	pfam_DUF2368	p.L26P	ENST00000223864.2	37	c.77	CCDS6463.1	9	.	.	.	.	.	.	.	.	.	.	A	19.03	3.747230	0.69418	.	.	ENSG00000107020	ENST00000223864	.	.	.	5.62	5.62	0.85841	.	0.073713	0.56097	D	0.000038	T	0.79684	0.4488	M	0.82923	2.615	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.82729	-0.0313	9	0.72032	D	0.01	.	13.3294	0.60477	1.0:0.0:0.0:0.0	.	26	Q9HBL7	CI046_HUMAN	P	26	.	ENSP00000223864:L26P	L	-	2	0	C9orf46	5421901	1.000000	0.71417	0.992000	0.48379	0.960000	0.62799	5.162000	0.64942	2.127000	0.65507	0.528000	0.53228	CTT	PLGRKT	-	pfam_DUF2368	ENSG00000107020		0.313	PLGRKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGRKT	HGNC	protein_coding	OTTHUMT00000051626.1		0.00	14	0	A	NM_018465		5431901	-1			no_errors	ENST00000223864	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	G
PLOD2	5352	genome.wustl.edu	37	3	145790411	145790411	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:145790411T>C	ENST00000360060.3	-	16	1899	c.1722A>G	c.(1720-1722)aaA>aaG	p.K574K	PLOD2_ENST00000494950.1_Silent_p.K540K|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Silent_p.K255K|PLOD2_ENST00000282903.5_Silent_p.K595K	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	574					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	CATCACAGGCTTTTTCAGAAA	0.348																																																	0													95.0	88.0	91.0					3																	145790411		2203	4299	6502	SO:0001819	synonymous_variant	0			U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1722A>G	3.37:g.145790411T>C			B3KWS3|Q59ED2|Q8N170	Silent	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.K595	ENST00000360060.3	37	c.1785	CCDS3131.1	3																																																																																			PLOD2	-	smart_Pro_4_hyd_alph	ENSG00000152952		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLOD2	HGNC	protein_coding	OTTHUMT00000355185.1	-	0.00	45	0	T	NM_000935		145790411	-1	tier1	-	no_errors	ENST00000282903	ensembl	human	known	74_37	silent	17.78	37	8	SNP	0.994	C
PLXNA2	5362	genome.wustl.edu	37	1	208200097	208200097	+	3'UTR	SNP	T	T	C	rs555511147		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:208200097T>C	ENST00000367033.3	-	0	6933				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AAATAGGCATTATATAAAGAA	0.353													T|||	1	0.000199681	0.0	0.0	5008	,	,		14936	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001624	3_prime_UTR_variant	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*491A>G	1.37:g.208200097T>C			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	RNA	SNP	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			PLXNA2	-	-	ENSG00000076356		0.353	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	0.00	50	0	T	NM_025179		208200097	-1	tier1	-	no_errors	ENST00000483048	ensembl	human	known	74_37	rna	56.00	22	28	SNP	0.000	C
POM121L9P	29774	genome.wustl.edu	37	22	24648561	24648561	+	RNA	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:24648561C>A	ENST00000414583.2	+	0	766					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		GGCCTCTAGGCCCAGTACACA	0.577																																																	0																																												0			AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24648561C>A				RNA	SNP	-	NULL	ENST00000414583.2	37	NULL		22																																																																																			POM121L9P	-	-	ENSG00000128262		0.577	POM121L9P-001	KNOWN	basic	processed_transcript	POM121L9P	HGNC	pseudogene	OTTHUMT00000319991.1	-	0.00	68	0	C	NM_014549		24648561	+1	tier1	-	no_errors	ENST00000414583	ensembl	human	known	74_37	rna	33.33	28	14	SNP	0.024	A
POTEC	388468	genome.wustl.edu	37	18	14522271	14522271	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:14522271T>G	ENST00000358970.5	-	9	1390	c.1391A>C	c.(1390-1392)gAg>gCg	p.E464A		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	464										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CTCTTCATTCTCAGTGTCAGG	0.388																																																	0													2.0	2.0	2.0					18																	14522271		485	1077	1562	SO:0001583	missense	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1391A>C	18.37:g.14522271T>G	ENSP00000351856:p.Glu464Ala			Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.E464A	ENST00000358970.5	37	c.1391	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	T	9.280	1.047960	0.19827	.	.	ENSG00000183206	ENST00000358970	T	0.33438	1.41	1.4	1.4	0.22301	.	.	.	.	.	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	P	0.38767	0.646	B	0.34093	0.175	T	0.25572	-1.0128	9	0.72032	D	0.01	.	4.9723	0.14123	0.0:0.0:0.0:1.0	.	464	B2RU33	POTEC_HUMAN	A	464	ENSP00000351856:E464A	ENSP00000351856:E464A	E	-	2	0	POTEC	14512271	0.003000	0.15002	0.002000	0.10522	0.023000	0.10783	1.269000	0.33074	0.898000	0.36418	0.163000	0.16589	GAG	POTEC	-	NULL	ENSG00000183206		0.388	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	-	0.00	113	0	T	XM_496269		14522271	-1	tier1	-	no_errors	ENST00000358970	ensembl	human	known	74_37	missense	17.12	92	19	SNP	0.003	G
POTEH	23784	genome.wustl.edu	37	22	16277923	16277923	+	Intron	SNP	T	T	G	rs2212142	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr22:16277923T>G	ENST00000343518.6	-	5	1080				POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAAAGTTATTTTAAAAGCTAA	0.358																																																	0													1.0	1.0	1.0					22																	16277923		336	625	961	SO:0001627	intron_variant	0			AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1029-38A>C	22.37:g.16277923T>G			A2CEK4|A6NCI1|A9Z1W0	RNA	SNP	-	NULL	ENST00000343518.6	37	NULL	CCDS46658.1	22																																																																																			POTEH-AS1	-	-	ENSG00000236666		0.358	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH-AS1	HGNC	protein_coding	OTTHUMT00000276918.4	-	0.00	19	0	T	NM_001136213		16277923	+1	tier1	rs199574869	no_errors	ENST00000422014	ensembl	human	known	74_37	rna	42.86	8	6	SNP	0.002	G
PRKRIP1	79706	genome.wustl.edu	37	7	102066961	102066961	+	3'UTR	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:102066961T>G	ENST00000496391.1	+	0	3268				PRKRIP1_ENST00000397912.3_3'UTR|RP11-514P8.2_ENST00000468165.1_RNA|PRKRIP1_ENST00000482465.1_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)						negative regulation of phosphorylation (GO:0042326)|negative regulation of protein kinase activity (GO:0006469)|renal system process (GO:0003014)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|lung(4)|ovary(1)	6						TTGCTTTTACTTCTGTAGTGT	0.443																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK023964	CCDS34714.1	7q22.1	2013-01-09			ENSG00000128563	ENSG00000128563		"""Zinc fingers, C2H2-type"", ""-"""	21894	protein-coding gene	gene with protein product	"""likely ortholog of mouse C114 dsRNA-binding protein"", ""KRAB box domain containing 3"""					12679338	Standard	NM_024653		Approved	C114, FLJ13902, KRBOX3	uc003uzh.2	Q9H875	OTTHUMG00000157717	ENST00000496391.1:c.*1403T>G	7.37:g.102066961T>G			B4DGM2|Q8NDM6|Q96CF8	RNA	SNP	-	NULL	ENST00000496391.1	37	NULL	CCDS34714.1	7																																																																																			PRKRIP1	-	-	ENSG00000128563		0.443	PRKRIP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKRIP1	HGNC	protein_coding	OTTHUMT00000349489.1	-	0.00	41	0	T	NM_024653		102066961	+1	tier1	-	no_errors	ENST00000482465	ensembl	human	known	74_37	rna	7.65	181	15	SNP	0.067	G
PRPF38B	55119	genome.wustl.edu	37	1	109241944	109241944	+	Silent	SNP	C	C	A	rs142474016		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:109241944C>A	ENST00000370025.4	+	6	1212	c.943C>A	c.(943-945)Cgg>Agg	p.R315R	PRPF38B_ENST00000370021.1_Silent_p.R204R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	315	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GGAGAAAGAACGGCGAAGATC	0.512																																																	0													91.0	91.0	91.0					1																	109241944		2203	4300	6503	SO:0001819	synonymous_variant	0			AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.943C>A	1.37:g.109241944C>A			Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	pfam_PRP38	p.R315	ENST00000370025.4	37	c.943	CCDS788.1	1																																																																																			PRPF38B	-	NULL	ENSG00000134186		0.512	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38B	HGNC	protein_coding	OTTHUMT00000030231.1		0.00	22	0	C	NM_018061		109241944	+1			no_errors	ENST00000370025	ensembl	human	known	74_37	silent	6.06	31	2	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79318714	79318714	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:79318714T>G	ENST00000376718.3	-	9	7938	c.7815A>C	c.(7813-7815)gaA>gaC	p.E2605D	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E2246D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2605					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GACCTTTTCTTTCATTTAAGG	0.438																																																	0													86.0	80.0	82.0					9																	79318714		1568	3582	5150	SO:0001583	missense	0			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7815A>C	9.37:g.79318714T>G	ENSP00000365908:p.Glu2605Asp		B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E2246D	ENST00000376718.3	37	c.6738	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.366|9.366	1.069345|1.069345	0.20147|0.20147	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.51574|.	0.7;0.71|.	5.87|5.87	-0.848|-0.848	0.10727|0.10727	.|.	0.485816|.	0.19131|.	N|.	0.121921|.	T|T	0.21227|0.21227	0.0511|0.0511	L|L	0.31664|0.31664	0.95|0.95	0.09310|0.09310	N|N	0.999999|0.999999	B;B|.	0.12630|.	0.002;0.006|.	B;B|.	0.11329|.	0.006;0.003|.	T|T	0.23655|0.23655	-1.0182|-1.0182	10|5	0.30078|.	T|.	0.28|.	-2.3197|-2.3197	1.3171|1.3171	0.02109|0.02109	0.1357:0.2299:0.1332:0.5012|0.1357:0.2299:0.1332:0.5012	.|.	2605;2605|.	Q8WUY3-3;Q8WUY3|.	.;PRUN2_HUMAN|.	D|Q	2605;2246;2604|1927	ENSP00000365908:E2605D;ENSP00000397425:E2246D|.	ENSP00000365908:E2605D|.	E|K	-|-	3|1	2|0	PRUNE2|PRUNE2	78508534|78508534	0.095000|0.095000	0.21747|0.21747	0.000000|0.000000	0.03702|0.03702	0.351000|0.351000	0.29236|0.29236	0.177000|0.177000	0.16801|0.16801	-0.378000|-0.378000	0.07918|0.07918	0.482000|0.482000	0.46254|0.46254	GAA|AAG	PRUNE2	-	NULL	ENSG00000106772		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	-	0.00	51	0	T	NM_138818		79318714	-1	tier1	-	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.053	G
PTPRVP	148713	genome.wustl.edu	37	1	202156171	202156172	+	RNA	DNP	GA	GA	CC			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:202156171_202156172GA>CC	ENST00000482597.1	+	0	3447_3448					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		gctcctcgctGAGCAGCCTGAT	0.619																																																	0																																												0			AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524	Exception_encountered	1.37:g.202156171_202156172delinsCC				RNA	SNP	-	NULL	ENST00000482597.1	37	NULL		1																																																																																			PTPRVP	-	-	ENSG00000243323		0.619	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	HGNC	pseudogene	OTTHUMT00000334021.1	-	0.00	38	0	G|A	XM_086287		202156171|202156172	+1	tier1	-	no_errors	ENST00000482597	ensembl	human	known	74_37	rna	9.76|9.52	37	4	SNP	0.001|0.002	C
RAB34	83871	genome.wustl.edu	37	17	27041593	27041593	+	3'UTR	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:27041593A>C	ENST00000395245.3	-	0	1474				RAB34_ENST00000447716.1_3'UTR|RAB34_ENST00000450529.1_3'UTR|PROCA1_ENST00000581289.1_5'Flank|RAB34_ENST00000301043.6_3'UTR|RAB34_ENST00000453384.3_Silent_p.A268A|PROCA1_ENST00000301039.2_5'Flank|RAB34_ENST00000395242.2_3'UTR|RAB34_ENST00000395243.3_3'UTR|RAB34_ENST00000415040.2_3'UTR	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family						antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CCAGGGGTCAAGCTCTGGAGG	0.557																																					Pancreas(175;216 2049 29940 32498 41589)												0													87.0	83.0	84.0					17																	27041593		1568	3582	5150	SO:0001624	3_prime_UTR_variant	0			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.*68T>G	17.37:g.27041593A>C			B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A268	ENST00000395245.3	37	c.804	CCDS11240.1	17	.	.	.	.	.	.	.	.	.	.	A	0.041	-1.283572	0.01398	.	.	ENSG00000109113	ENST00000419712	.	.	.	5.1	1.53	0.23141	.	.	.	.	.	T	0.37183	0.0994	.	.	.	.	.	.	.	.	.	.	.	.	T	0.41574	-0.9501	3	.	.	.	.	5.2061	0.15291	0.5461:0.3601:0.0938:0.0	.	.	.	.	R	231	.	.	L	-	2	0	RAB34	24065720	0.000000	0.05858	0.006000	0.13384	0.224000	0.24922	0.735000	0.26115	0.324000	0.23333	-0.461000	0.05368	CTT	RAB34	-	smart_Small_GTPase_Ras	ENSG00000109113		0.557	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RAB34	HGNC	protein_coding	OTTHUMT00000345906.1	-	0.00	42	0	A	NM_031934		27041593	-1	tier1	-	no_errors	ENST00000453384	ensembl	human	known	74_37	silent	9.80	46	5	SNP	0.013	C
RAD54B	25788	genome.wustl.edu	37	8	95384386	95384386	+	3'UTR	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:95384386A>C	ENST00000336148.5	-	0	2869				RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)						ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAATGTCAGAAGTAATCTTTC	0.264								Direct reversal of damage;Homologous recombination																																									0													41.0	41.0	41.0					8																	95384386		2202	4300	6502	SO:0001624	3_prime_UTR_variant	0			AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.*12T>G	8.37:g.95384386A>C			F6WBS8	RNA	SNP	-	NULL	ENST00000336148.5	37	NULL	CCDS6262.1	8																																																																																			RAD54B	-	-	ENSG00000197275		0.264	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD54B	HGNC	protein_coding	OTTHUMT00000257806.3	-	0.00	58	0	A	NM_012415		95384386	-1	tier1	-	no_errors	ENST00000519348	ensembl	human	putative	74_37	rna	11.69	68	9	SNP	0.000	C
RAG1	5896	genome.wustl.edu	37	11	36597527	36597527	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:36597527G>A	ENST00000299440.5	+	2	2785	c.2673G>A	c.(2671-2673)aaG>aaA	p.K891K		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	891					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTTACCTGAAGATGAAACCAG	0.488									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)												0													147.0	139.0	142.0					11																	36597527		2202	4298	6500	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2673G>A	11.37:g.36597527G>A			E9PPC4|Q8IY72|Q8NER2	Silent	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.K891	ENST00000299440.5	37	c.2673	CCDS7902.1	11																																																																																			RAG1	-	NULL	ENSG00000166349		0.488	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	-	0.00	23	0	G	NM_000448		36597527	+1	tier1	-	no_errors	ENST00000299440	ensembl	human	known	74_37	silent	26.09	17	6	SNP	1.000	A
RANBP17	64901	genome.wustl.edu	37	5	170610191	170610191	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:170610191T>C	ENST00000523189.1	+	17	2050	c.1886T>C	c.(1885-1887)cTt>cCt	p.L629P	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	629					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTAAAAAAACTTGTGAAGATA	0.269			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0													35.0	39.0	38.0					5																	170610191		2197	4293	6490	SO:0001583	missense	0			AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.1886T>C	5.37:g.170610191T>C	ENSP00000427975:p.Leu629Pro		Q8IU74	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L629P	ENST00000523189.1	37	c.1886	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	T	19.02	3.745322	0.69418	.	.	ENSG00000204764	ENST00000523189;ENST00000534916	T	0.74315	-0.83	5.49	5.49	0.81192	Armadillo-type fold (1);	0.000000	0.52532	D	0.000064	D	0.88153	0.6360	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89933	0.4067	10	0.56958	D	0.05	-12.92	14.103	0.65070	0.0:0.0:0.0:1.0	.	629	Q9H2T7	RBP17_HUMAN	P	629;59	ENSP00000427975:L629P	ENSP00000427975:L629P	L	+	2	0	RANBP17	170542796	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.728000	0.74769	2.194000	0.70268	0.533000	0.62120	CTT	RANBP17	-	superfamily_ARM-type_fold	ENSG00000204764		0.269	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	HGNC	protein_coding	OTTHUMT00000372036.1	-	0.00	60	0	T	NM_022897		170610191	+1	tier1	-	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	20.00	48	12	SNP	1.000	C
RAP2C	57826	genome.wustl.edu	37	X	131348424	131348424	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:131348424T>C	ENST00000342983.2	-	3	1070	c.324A>G	c.(322-324)aaA>aaG	p.K108K	RAP2C_ENST00000370874.1_Silent_p.K108K|RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	108					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of protein tyrosine kinase activity (GO:0061097)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|transcription coactivator activity (GO:0003713)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTAGTGGGACTTTTTCATATC	0.388																																																	0													89.0	70.0	77.0					X																	131348424		2203	4300	6503	SO:0001819	synonymous_variant	0			BC051467	CCDS14632.1, CCDS76024.1	Xq25	2014-05-09			ENSG00000123728	ENSG00000123728			21165	protein-coding gene	gene with protein product							Standard	NM_001271186		Approved	DKFZp313B211	uc004ewp.4	Q9Y3L5	OTTHUMG00000022424	ENST00000342983.2:c.324A>G	X.37:g.131348424T>C			B3KWD6|Q5H9H9|Q9BTS0	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K108	ENST00000342983.2	37	c.324	CCDS14632.1	X																																																																																			RAP2C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000123728		0.388	RAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAP2C	HGNC	protein_coding	OTTHUMT00000058312.1	-	0.00	35	0	T	NM_021183		131348424	-1	tier1	-	no_errors	ENST00000342983	ensembl	human	known	74_37	silent	23.26	33	10	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86645099	86645099	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:86645099C>T	ENST00000274376.6	+	8	1735	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	RASA1_ENST00000456692.2_Missense_Mutation_p.R214W|RASA1_ENST00000512763.1_Missense_Mutation_p.R224W|RASA1_ENST00000506290.1_Missense_Mutation_p.R225W	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	391	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.R214W(1)|p.R391W(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		ACTTTATTTCCGGACCAATGA	0.358																																																	2	Substitution - Missense(2)	urinary_tract(2)											87.0	92.0	91.0					5																	86645099		2203	4298	6501	SO:0001583	missense	0				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.1171C>T	5.37:g.86645099C>T	ENSP00000274376:p.Arg391Trp		B2R6W3|Q9UDI1	Missense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.R391W	ENST00000274376.6	37	c.1171	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.405691	0.96051	.	.	ENSG00000145715	ENST00000274376;ENST00000534133;ENST00000456692;ENST00000512763;ENST00000506290	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.78	5.78	0.91487	SH2 motif (4);	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	L	0.52905	1.665	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	0.993;0.993;0.995;0.994;0.993	D	0.93452	0.6803	10	0.72032	D	0.01	.	20.0172	0.97481	0.0:1.0:0.0:0.0	.	225;224;225;214;391	E9PGC0;B4DTL2;B4DTX4;P20936-2;P20936	.;.;.;.;RASA1_HUMAN	W	391;424;214;224;225	ENSP00000274376:R391W;ENSP00000411221:R214W;ENSP00000422008:R224W;ENSP00000420905:R225W	ENSP00000274376:R391W	R	+	1	2	RASA1	86680855	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.790000	0.85794	2.723000	0.93209	0.585000	0.79938	CGG	RASA1	-	pfam_SH2,smart_SH2,pfscan_SH2	ENSG00000145715		0.358	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	-	0.00	47	0	C	NM_002890		86645099	+1	tier1	-	no_errors	ENST00000274376	ensembl	human	known	74_37	missense	18.52	44	10	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:145647319_145647320insA	ENST00000265271.5	+	15	2605_2606	c.2439_2440insA	c.(2440-2442)aaafs	p.K814fs	RBM27_ENST00000506502.1_Frame_Shift_Ins_p.K759fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	814					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2448dupA	5.37:g.145647328_145647328dupA	ENSP00000265271:p.Lys814fs		Q8IYW9	Frame_Shift_Ins	INS	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q816fs	ENST00000265271.5	37	c.2439_2440	CCDS43378.1	5																																																																																			RBM27	-	NULL	ENSG00000091009		0.351	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1		0.00	47	0	-	XM_291128		145647320	+1	tier1		no_errors	ENST00000265271	ensembl	human	known	74_37	frame_shift_ins	17.78	37	8	INS	1.000:1.000	A
RFXANK	8625	genome.wustl.edu	37	19	19304837	19304837	+	Missense_Mutation	SNP	G	G	A	rs559367724		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:19304837G>A	ENST00000303088.4	+	3	556	c.82G>A	c.(82-84)Gga>Aga	p.G28R	RFXANK_ENST00000353145.1_Missense_Mutation_p.G28R|MEF2B_ENST00000602424.2_5'Flank|MEF2BNB_ENST00000585679.1_5'Flank|MEF2BNB_ENST00000462790.3_5'Flank|RFXANK_ENST00000392324.4_Missense_Mutation_p.G28R|RFXANK_ENST00000407360.3_Missense_Mutation_p.G28R|MEF2BNB_ENST00000477565.3_5'Flank|RFXANK_ENST00000456252.3_Missense_Mutation_p.G28R|MEF2BNB-MEF2B_ENST00000514819.3_5'Flank|MEF2B_ENST00000162023.5_5'Flank|MEF2BNB-MEF2B_ENST00000444486.3_5'Flank|MEF2BNB_ENST00000494489.2_5'Flank	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	28					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TGAAGACCCCGGAGAGGAGGC	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16584	0.0		0.0	False		,,,				2504	0.0																0													134.0	130.0	131.0					19																	19304837		2203	4300	6503	SO:0001583	missense	0			AF094760	CCDS12395.1, CCDS12396.1, CCDS62611.1	19p12	2014-09-17			ENSG00000064490	ENSG00000064490		"""Ankyrin repeat domain containing"""	9987	protein-coding gene	gene with protein product	"""ankyrin repeat-containing regulatory factor X-associated protein"", ""regulatory factor X subunit B"", ""RFX-Bdelta4"", ""DNA-binding protein RFXANK"""	603200				9806546, 10072068	Standard	NM_003721		Approved	BLS, RFX-B, ANKRA1, F14150_1, MGC138628	uc002nls.3	O14593	OTTHUMG00000169224	ENST00000303088.4:c.82G>A	19.37:g.19304837G>A	ENSP00000305071:p.Gly28Arg		O95839|Q24JQ1|Q6FGA8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G28R	ENST00000303088.4	37	c.82	CCDS12395.1	19	.	.	.	.	.	.	.	.	.	.	G	0.046	-1.267033	0.01433	.	.	ENSG00000064490	ENST00000353145;ENST00000421262;ENST00000456252;ENST00000303088;ENST00000407360;ENST00000543652;ENST00000540981;ENST00000541873;ENST00000392324	T;T;T;T;T;T;T;T	0.40476	1.24;1.03;1.25;1.36;1.26;1.94;1.75;1.24	4.58	-4.15	0.03881	.	1.432230	0.04151	N	0.321315	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.20538	-1.0272	10	0.59425	D	0.04	-0.8589	4.866	0.13609	0.5327:0.0:0.3164:0.1509	.	28;28;28;28	Q6IB23;Q24JQ1;O14593-2;O14593	.;.;.;RFXK_HUMAN	R	28	ENSP00000262804:G28R;ENSP00000393159:G28R;ENSP00000409138:G28R;ENSP00000305071:G28R;ENSP00000384572:G28R;ENSP00000439581:G28R;ENSP00000440325:G28R;ENSP00000376138:G28R	ENSP00000305071:G28R	G	+	1	0	RFXANK	19165837	0.002000	0.14202	0.000000	0.03702	0.055000	0.15305	-0.295000	0.08298	-1.137000	0.02888	0.462000	0.41574	GGA	RFXANK	-	pirsf_DNA-bd_RFXANK	ENSG00000064490		0.602	RFXANK-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	RFXANK	HGNC	protein_coding	OTTHUMT00000402923.2	-	0.00	43	0	G	NM_003721		19304837	+1	tier1	-	no_errors	ENST00000303088	ensembl	human	known	74_37	missense	29.51	43	18	SNP	0.000	A
RHBDF1	64285	genome.wustl.edu	37	16	109078	109078	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:109078C>T	ENST00000262316.6	-	17	2184	c.2042G>A	c.(2041-2043)cGg>cAg	p.R681Q		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	681					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CTCCAGGTCCCGCAGGACAGT	0.592																																																	0													41.0	39.0	40.0					16																	109078		2203	4300	6503	SO:0001583	missense	0			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.2042G>A	16.37:g.109078C>T	ENSP00000262316:p.Arg681Gln		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.R681Q	ENST00000262316.6	37	c.2042	CCDS32344.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	34|34	5.380560|5.380560	0.95945|0.95945	.|.	.|.	ENSG00000007384|ENSG00000007384	ENST00000448893|ENST00000262316	.|T	.|0.12361	.|2.69	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Peptidase S54, rhomboid domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.36026|0.36026	0.0952|0.0952	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|D	.|0.71674	.|0.998	.|D	.|0.63793	.|0.918	T|T	0.01869|0.01869	-1.1257|-1.1257	5|10	.|0.56958	.|D	.|0.05	-35.8189|-35.8189	18.7244|18.7244	0.91708|0.91708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|681	.|Q96CC6	.|RHDF1_HUMAN	R|Q	58|681	.|ENSP00000262316:R681Q	.|ENSP00000262316:R681Q	G|R	-|-	1|2	0|0	RHBDF1|RHBDF1	49078|49078	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	7.755000|7.755000	0.85180|0.85180	2.678000|2.678000	0.91216|0.91216	0.655000|0.655000	0.94253|0.94253	GGG|CGG	RHBDF1	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000007384		0.592	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	HGNC	protein_coding	OTTHUMT00000134178.2	-	0.00	99	0	C	NM_022450		109078	-1	tier1	-	no_errors	ENST00000262316	ensembl	human	known	74_37	missense	24.72	67	22	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	105080825	105080825	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:105080825A>C	ENST00000436393.2	+	20	2947	c.2706A>C	c.(2704-2706)caA>caC	p.Q902H	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	0	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACTGGAACAAGATTACCATT	0.323										HNSCC(12;0.0054)																																							0													13.0	14.0	13.0					8																	105080825		875	1987	2862	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2706A>C	8.37:g.105080825A>C	ENSP00000390665:p.Gln902His		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.Q902H	ENST00000436393.2	37	c.2706		8	.	.	.	.	.	.	.	.	.	.	A	7.401	0.632779	0.14322	.	.	ENSG00000176406	ENST00000408894;ENST00000436393	T;T	0.16897	2.31;2.65	5.3	4.14	0.48551	.	.	.	.	.	T	0.10380	0.0254	.	.	.	0.80722	D	1	P	0.49961	0.93	B	0.41723	0.365	T	0.19614	-1.0300	8	0.11794	T	0.64	.	8.3431	0.32256	0.8474:0.0:0.1526:0.0	.	902	D6RA03	.	H	975;902	ENSP00000386228:Q975H;ENSP00000390665:Q902H	ENSP00000386228:Q975H	Q	+	3	2	RIMS2	105150001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.988000	0.49386	0.851000	0.35264	0.533000	0.62120	CAA	RIMS2	-	NULL	ENSG00000176406		0.323	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	31	0	A	NM_001100117		105080825	+1	tier1	-	no_errors	ENST00000436393	ensembl	human	novel	74_37	missense	12.90	27	4	SNP	1.000	C
RNF213	57674	genome.wustl.edu	37	17	78346353	78346353	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:78346353C>T	ENST00000582970.1	+	48	12713	c.12570C>T	c.(12568-12570)tcC>tcT	p.S4190S	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.S4239S|RNF213_ENST00000336301.6_Silent_p.S2263S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4190					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCTTACTCCAGAAATGATG	0.458																																																	0													40.0	36.0	37.0					17																	78346353		2203	4300	6503	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12570C>T	17.37:g.78346353C>T			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S4190	ENST00000582970.1	37	c.12570	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.458	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	-	0.00	66	0	C	NM_020914		78346353	+1	tier1	-	no_errors	ENST00000582970	ensembl	human	known	74_37	silent	11.11	72	9	SNP	0.000	T
RNF41	10193	genome.wustl.edu	37	12	56607827	56607827	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:56607827C>T	ENST00000345093.4	-	3	374	c.5G>A	c.(4-6)gGg>gAg	p.G2E	RNF41_ENST00000552656.1_Missense_Mutation_p.G2E|RNF41_ENST00000394013.2_5'UTR|RNF41_ENST00000552244.1_Missense_Mutation_p.G2E	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	2					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						TACATCATACCCCATGTCTCA	0.468																																																	0													149.0	138.0	142.0					12																	56607827		2203	4300	6503	SO:0001583	missense	0			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.5G>A	12.37:g.56607827C>T	ENSP00000342755:p.Gly2Glu		A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.G2E	ENST00000345093.4	37	c.5	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.349047	0.95807	.	.	ENSG00000181852	ENST00000345093;ENST00000448057;ENST00000552656;ENST00000552244;ENST00000549038	T;T;T;T	0.44482	0.92;0.92;1.18;1.26	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.72740	0.3498	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77459	-0.2580	10	0.87932	D	0	.	19.059	0.93080	0.0:1.0:0.0:0.0	.	2	Q9H4P4	RNF41_HUMAN	E	2	ENSP00000342755:G2E;ENSP00000447303:G2E;ENSP00000448187:G2E;ENSP00000446595:G2E	ENSP00000342755:G2E	G	-	2	0	RNF41	54894094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.816000	0.69222	2.882000	0.98803	0.655000	0.94253	GGG	RNF41	-	NULL	ENSG00000181852		0.468	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	-	0.00	30	0	C	NM_005785		56607827	-1	tier1	-	no_errors	ENST00000345093	ensembl	human	known	74_37	missense	16.13	26	5	SNP	1.000	T
RNF43	54894	genome.wustl.edu	37	17	56439977	56439977	+	Silent	SNP	C	C	A	rs377300761		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:56439977C>A	ENST00000584437.1	-	5	2570	c.615G>T	c.(613-615)gtG>gtT	p.V205V	RNF43_ENST00000581868.1_Silent_p.V78V|RNF43_ENST00000407977.2_Silent_p.V205V|RNF43_ENST00000500597.2_Silent_p.V164V|RNF43_ENST00000577625.1_Silent_p.V78V|RNF43_ENST00000583753.1_Silent_p.V164V|RNF43_ENST00000577716.1_Silent_p.V205V|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	205					negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGTGCCCACCACTGTCATTA	0.597																																																	0													111.0	93.0	99.0					17																	56439977		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.615G>T	17.37:g.56439977C>A			A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING	p.V205	ENST00000584437.1	37	c.615	CCDS11607.1	17																																																																																			RNF43	-	NULL	ENSG00000108375		0.597	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RNF43	HGNC	protein_coding	OTTHUMT00000444713.1	-	0.00	80	0	C	NM_017763		56439977	-1	tier1	-	no_errors	ENST00000407977	ensembl	human	known	74_37	silent	13.70	63	10	SNP	1.000	A
RPS6KL1	83694	genome.wustl.edu	37	14	75376518	75376518	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:75376518G>T	ENST00000555647.1	-	8	1285	c.998C>A	c.(997-999)gCt>gAt	p.A333D	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.A302D|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.A333D|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.A333D|RPS6KL1_ENST00000554900.1_5'Flank			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	333	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GTTCTGGCCAGCCCTCCTAGC	0.677																																																	0													16.0	18.0	18.0					14																	75376518		2203	4300	6503	SO:0001583	missense	0			BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.998C>A	14.37:g.75376518G>T	ENSP00000452027:p.Ala333Asp		A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A333D	ENST00000555647.1	37	c.998	CCDS9834.2	14	.	.	.	.	.	.	.	.	.	.	G	3.219	-0.159981	0.06502	.	.	ENSG00000198208	ENST00000555647;ENST00000354625;ENST00000557413;ENST00000358328	T;T;T;T	0.59224	0.33;0.28;0.33;0.33	5.4	2.55	0.30701	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	1.144660	0.06525	U	0.740319	T	0.53206	0.1782	L	0.40543	1.245	0.09310	N	1	B;P;P	0.44877	0.049;0.845;0.617	B;P;B	0.46659	0.026;0.523;0.124	T	0.42120	-0.9470	10	0.31617	T	0.26	0.1409	6.8277	0.23893	0.3101:0.0:0.6899:0.0	.	333;333;302	Q9Y6S9;B4DSP6;Q9Y6S9-2	RPKL1_HUMAN;.;.	D	333;302;333;333	ENSP00000452027:A333D;ENSP00000346644:A302D;ENSP00000450567:A333D;ENSP00000351086:A333D	ENSP00000346644:A302D	A	-	2	0	RPS6KL1	74446271	0.000000	0.05858	0.166000	0.22797	0.011000	0.07611	0.501000	0.22578	1.284000	0.44531	-0.291000	0.09656	GCT	RPS6KL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000198208		0.677	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RPS6KL1	HGNC	protein_coding	OTTHUMT00000413732.1	-	0.00	109	0	G			75376518	-1	tier1	-	no_errors	ENST00000358328	ensembl	human	known	74_37	missense	21.70	83	23	SNP	0.001	T
SAE1	10055	genome.wustl.edu	37	19	47653535	47653535	+	Nonsense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:47653535T>A	ENST00000270225.7	+	3	355	c.287T>A	c.(286-288)tTg>tAg	p.L96*	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000598840.1_Nonsense_Mutation_p.L96*|SAE1_ENST00000413379.3_Nonsense_Mutation_p.L96*|SAE1_ENST00000392776.3_Nonsense_Mutation_p.L96*	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	96					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		GAAGCCTCTTTGGAGCGAGCT	0.448																																																	0													120.0	121.0	121.0					19																	47653535		2203	4300	6503	SO:0001587	stop_gained	0			BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.287T>A	19.37:g.47653535T>A	ENSP00000270225:p.Leu96*		B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Nonsense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like	p.L96*	ENST00000270225.7	37	c.287	CCDS12696.1	19	.	.	.	.	.	.	.	.	.	.	T	38	6.798627	0.97845	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	.	.	.	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4042	0.67071	0.0:0.0:0.0:1.0	.	.	.	.	X	96	.	ENSP00000270225:L96X	L	+	2	0	SAE1	52345375	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.520000	0.81821	2.108000	0.64289	0.533000	0.62120	TTG	SAE1	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000142230		0.448	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SAE1	HGNC	protein_coding	OTTHUMT00000466775.1	-	0.00	85	0	T	NM_005500		47653535	+1	tier1	-	no_errors	ENST00000270225	ensembl	human	known	74_37	nonsense	15.94	58	11	SNP	1.000	A
SCG2	7857	genome.wustl.edu	37	2	224463745	224463745	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:224463745C>T	ENST00000305409.2	-	2	488	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		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)		TGAAGGGGGACAGAGACACCT	0.453																																																	0													116.0	120.0	119.0					2																	224463745		2203	4300	6503	SO:0001583	missense	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.256G>A	2.37:g.224463745C>T	ENSP00000304133:p.Val86Ile		A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	pfam_Granin	p.V86I	ENST00000305409.2	37	c.256	CCDS2457.1	2	.	.	.	.	.	.	.	.	.	.	C	0.529	-0.858837	0.02610	.	.	ENSG00000171951	ENST00000305409;ENST00000450330;ENST00000421386;ENST00000433889	T;T;T	0.01725	4.67;4.67;4.67	5.5	2.43	0.29744	.	1.048460	0.07435	N	0.896277	T	0.01627	0.0052	L	0.28274	0.84	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.47368	-0.9123	10	0.07482	T	0.82	.	9.2091	0.37306	0.2365:0.4551:0.3085:0.0	.	86	P13521	SCG2_HUMAN	I	86	ENSP00000304133:V86I;ENSP00000394702:V86I;ENSP00000415468:V86I	ENSP00000304133:V86I	V	-	1	0	SCG2	224171989	0.003000	0.15002	0.532000	0.27989	0.188000	0.23474	0.424000	0.21330	0.732000	0.32470	0.585000	0.79938	GTC	SCG2	-	pfam_Granin	ENSG00000171951		0.453	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCG2	HGNC	protein_coding	OTTHUMT00000256870.2	-	0.00	70	0	C	NM_003469		224463745	-1	tier1	-	no_errors	ENST00000305409	ensembl	human	known	74_37	missense	18.31	58	13	SNP	0.251	T
SCN8A	6334	genome.wustl.edu	37	12	52162882	52162882	+	Silent	SNP	C	C	T	rs550579591		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:52162882C>T	ENST00000354534.6	+	17	3313	c.3135C>T	c.(3133-3135)atC>atT	p.I1045I	SCN8A_ENST00000545061.1_Silent_p.I1045I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1045					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCAACTGTATCGCCAATCACA	0.522													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22575	0.0		0.0	False		,,,				2504	0.0																0													66.0	68.0	67.0					12																	52162882		2142	4261	6403	SO:0001819	synonymous_variant	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3135C>T	12.37:g.52162882C>T			B9VWG8|O95788|Q9NYX2|Q9UPB2	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.I1045	ENST00000354534.6	37	c.3135	CCDS44891.1	12																																																																																			SCN8A	-	pfam_Na_trans_assoc	ENSG00000196876		0.522	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	-	0.00	49	0	C	NM_014191		52162882	+1	tier1	-	no_errors	ENST00000354534	ensembl	human	known	74_37	silent	15.62	27	5	SNP	0.246	T
SHB	6461	genome.wustl.edu	37	9	37919868	37919868	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:37919868C>T	ENST00000377707.3	-	6	2045	c.1480G>A	c.(1480-1482)Ggg>Agg	p.G494R	RP11-613M10.9_ENST00000540557.1_Intron	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	494	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TGCTCAGCCCCTTTGATGGGT	0.562																																																	0													132.0	143.0	139.0					9																	37919868		2052	4194	6246	SO:0001583	missense	0				CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.1480G>A	9.37:g.37919868C>T	ENSP00000366936:p.Gly494Arg		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.G494R	ENST00000377707.3	37	c.1480	CCDS43806.1	9	.	.	.	.	.	.	.	.	.	.	C	29.5	5.012425	0.93346	.	.	ENSG00000107338	ENST00000377707	T	0.71103	-0.54	5.51	5.51	0.81932	SH2 motif (2);	0.000000	0.64402	D	0.000017	D	0.84000	0.5376	M	0.73753	2.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85360	0.1107	10	0.66056	D	0.02	-19.7672	16.9235	0.86169	0.0:1.0:0.0:0.0	.	494	Q15464	SHB_HUMAN	R	494	ENSP00000366936:G494R	ENSP00000366936:G494R	G	-	1	0	SHB	37909868	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	7.469000	0.80959	2.573000	0.86826	0.655000	0.94253	GGG	SHB	-	pfscan_SH2	ENSG00000107338		0.562	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHB	HGNC	protein_coding	OTTHUMT00000052490.1	-	0.00	76	0	C			37919868	-1	tier1	-	no_errors	ENST00000377707	ensembl	human	known	74_37	missense	26.67	66	24	SNP	1.000	T
SEC16A	9919	genome.wustl.edu	37	9	139342035	139342035	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:139342035T>C	ENST00000371706.3	-	24	6044	c.6011A>G	c.(6010-6012)tAc>tGc	p.Y2004C	SEC16A_ENST00000398335.1_3'UTR|SEC16A_ENST00000313084.5_Missense_Mutation_p.Y188C|SEC16A_ENST00000431893.2_Missense_Mutation_p.Y2004C|SEC16A_ENST00000290037.6_Missense_Mutation_p.Y2004C|SEC16A_ENST00000313050.7_Missense_Mutation_p.Y2182C			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2004	Pro-rich.|Required for interaction with SEC23A.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCTTCTAGAGTACATGTTCAC	0.602																																																	0													38.0	45.0	43.0					9																	139342035		2005	4167	6172	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.6011A>G	9.37:g.139342035T>C	ENSP00000360771:p.Tyr2004Cys		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.Y2182C	ENST00000371706.3	37	c.6545		9	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598876	0.28445	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000313084;ENST00000537660;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	T;T;T;T;T;T	0.47177	1.85;0.85;1.44;1.89;1.86;1.89	4.81	2.39	0.29439	.	0.232269	0.44688	D	0.000433	T	0.53061	0.1773	L	0.46157	1.445	0.80722	D	1	D;P;P;P;P;P;D;D	0.69078	0.997;0.938;0.857;0.793;0.69;0.681;0.996;0.997	P;P;P;P;B;B;P;P	0.58970	0.849;0.619;0.671;0.487;0.338;0.215;0.794;0.849	T	0.51364	-0.8715	10	0.72032	D	0.01	-4.9165	9.4567	0.38758	0.7017:0.0:0.0:0.2983	.	23;2182;2004;2004;1572;2004;188;23	B4DY06;F1T0I1;O15027-5;O15027-4;A4QN19;O15027;Q8N9G1;F6VLX6	.;.;.;.;.;SC16A_HUMAN;.;.	C	2182;576;904;2004;188;23;2004;2004;1572;540	ENSP00000325827:Y2182C;ENSP00000277537:Y576C;ENSP00000403525:Y904C;ENSP00000360771:Y2004C;ENSP00000290037:Y2004C;ENSP00000387583:Y2004C	ENSP00000277537:Y576C	Y	-	2	0	SEC16A	138461856	1.000000	0.71417	0.969000	0.41365	0.067000	0.16453	5.450000	0.66626	0.259000	0.21709	-0.585000	0.04130	TAC	SEC16A	-	NULL	ENSG00000148396		0.602	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	-	0.00	55	0	T	XM_088459		139342035	-1	tier1	-	no_errors	ENST00000313050	ensembl	human	known	74_37	missense	21.92	56	16	SNP	1.000	C
SHISA9	729993	genome.wustl.edu	37	16	13329093	13329093	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:13329093T>C	ENST00000424107.3	+	5	1547	c.1102T>C	c.(1102-1104)Ttt>Ctt	p.F368L	SHISA9_ENST00000558583.1_Missense_Mutation_p.F409L			B4DS77	SHSA9_HUMAN	shisa family member 9	368					regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|dendritic spine membrane (GO:0032591)|ionotropic glutamate receptor complex (GO:0008328)|synapse (GO:0045202)				breast(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						TACCACCAACTTTAAGGGCTG	0.632																																																	0													136.0	164.0	156.0					16																	13329093		692	1591	2283	SO:0001583	missense	0				CCDS45417.1, CCDS45418.1, CCDS45417.2, CCDS45418.2	16p13.12	2013-07-31	2013-07-31		ENSG00000237515	ENSG00000237515		"""Shisa homologs"""	37231	protein-coding gene	gene with protein product		613346	"""shisa homolog 9 (Xenopus laevis)"""				Standard	NM_001145205		Approved		uc010uyy.2	B4DS77	OTTHUMG00000154258	ENST00000424107.3:c.1102T>C	16.37:g.13329093T>C	ENSP00000407958:p.Phe368Leu		C9J314|C9JCE9	Missense_Mutation	SNP	NULL	p.F409L	ENST00000424107.3	37	c.1225	CCDS45417.2	16	.	.	.	.	.	.	.	.	.	.	T	12.42	1.933987	0.34096	.	.	ENSG00000237515	ENST00000424107	.	.	.	4.99	3.88	0.44766	.	.	.	.	.	T	0.51584	0.1683	L	0.46157	1.445	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39333	-0.9619	8	0.19590	T	0.45	.	10.8816	0.46942	0.0:0.0:0.1584:0.8416	.	368	B4DS77	SHSA9_HUMAN	L	409	.	ENSP00000407958:F409L	F	+	1	0	SHISA9	13236594	1.000000	0.71417	0.999000	0.59377	0.947000	0.59692	1.910000	0.39927	0.740000	0.32651	0.454000	0.30748	TTT	SHISA9	-	NULL	ENSG00000237515		0.632	SHISA9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHISA9	HGNC	protein_coding	OTTHUMT00000334564.5	-	0.00	72	0	T	NM_001145204		13329093	+1	tier1	-	no_errors	ENST00000558583	ensembl	human	known	74_37	missense	8.43	76	7	SNP	1.000	C
SIX5	147912	genome.wustl.edu	37	19	46269143	46269143	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:46269143G>A	ENST00000317578.6	-	3	2217	c.1836C>T	c.(1834-1836)caC>caT	p.H612H	SIX5_ENST00000560168.1_3'UTR|AC074212.6_ENST00000590076.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	612					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGCCTAGGGCGTGAGCCTCTG	0.721																																																	0													9.0	12.0	11.0					19																	46269143		2182	4272	6454	SO:0001819	synonymous_variant	0			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.1836C>T	19.37:g.46269143G>A				Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.H612	ENST00000317578.6	37	c.1836	CCDS12673.1	19																																																																																			SIX5	-	NULL	ENSG00000177045		0.721	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX5	HGNC	protein_coding	OTTHUMT00000417341.3	-	0.00	108	0	G	NM_175875		46269143	-1	tier1	-	no_errors	ENST00000317578	ensembl	human	known	74_37	silent	33.08	88	44	SNP	0.000	A
SIGLEC6	946	genome.wustl.edu	37	19	52034756	52034756	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52034756G>A	ENST00000425629.3	-	2	239	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R29W|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R29W|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.R29W|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R29W	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGGAATCTCCGCTCCTGAGCC	0.657																																																	0													39.0	44.0	42.0					19																	52034756		2163	4279	6442	SO:0001583	missense	0			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.85C>T	19.37:g.52034756G>A	ENSP00000401502:p.Arg29Trp		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R29W	ENST00000425629.3	37	c.85	CCDS12834.3	19	.	.	.	.	.	.	.	.	.	.	G	7.471	0.646744	0.14516	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000343300;ENST00000426829	T;T;T;T	0.48836	0.84;1.19;1.38;0.8	2.29	-4.58	0.03410	Immunoglobulin-like fold (1);	22.509600	0.00166	N	0.000005	T	0.23370	0.0565	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.18013	0.005;0.001;0.001;0.001;0.025;0.001	B;B;B;B;B;B	0.16289	0.001;0.002;0.001;0.003;0.015;0.0	T	0.05533	-1.0879	10	0.44086	T	0.13	.	0.9986	0.01473	0.2255:0.3271:0.2827:0.1646	.	29;29;29;29;29;29	F8WA78;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	W	18;29;29;29;29;29	ENSP00000375674:R29W;ENSP00000401502:R29W;ENSP00000353071:R29W;ENSP00000345907:R29W	ENSP00000345907:R29W	R	-	1	2	SIGLEC6	56726568	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-5.547000	0.00114	-1.470000	0.01888	-0.840000	0.03056	CGG	SIGLEC6	-	NULL	ENSG00000105492		0.657	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC6	HGNC	protein_coding	OTTHUMT00000257670.3	-	0.00	55	0	G	NM_001245		52034756	-1	tier1	-	no_errors	ENST00000425629	ensembl	human	known	74_37	missense	12.00	44	6	SNP	0.000	A
SLC10A3	8273	genome.wustl.edu	37	X	153716993	153716993	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chrX:153716993G>T	ENST00000393587.4	-	3	550	c.287C>A	c.(286-288)gCc>gAc	p.A96D	UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000369653.4_5'Flank|SLC10A3_ENST00000393586.1_Missense_Mutation_p.A151D|SLC10A3_ENST00000369649.4_Missense_Mutation_p.A96D|SLC10A3_ENST00000263512.4_Missense_Mutation_p.A96D|UBL4A_ENST00000477777.1_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	96					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTCCTGTTGGCCTGGCCTGG	0.597																																																	0													124.0	103.0	110.0					X																	153716993		2203	4300	6503	SO:0001583	missense	0			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.287C>A	X.37:g.153716993G>T	ENSP00000377212:p.Ala96Asp		Q5HY79|Q9BSL2	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.A96D	ENST00000393587.4	37	c.287	CCDS14755.1	X	.	.	.	.	.	.	.	.	.	.	G	1.345	-0.592975	0.03771	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587;ENST00000453912	T;T;T;T	0.08807	3.05;3.06;3.1;3.1	4.62	2.67	0.31697	.	1.739860	0.03727	U	0.252829	T	0.08179	0.0204	L	0.44542	1.39	0.24165	N	0.995646	B;B	0.20671	0.047;0.047	B;B	0.19148	0.024;0.024	T	0.41197	-0.9522	10	0.15499	T	0.54	.	4.0137	0.09634	0.0:0.2866:0.4217:0.2917	.	96;96	Q9BSL2;P09131	.;P3_HUMAN	D	96;151;96;96;96	ENSP00000358663:A96D;ENSP00000377211:A151D;ENSP00000263512:A96D;ENSP00000377212:A96D	ENSP00000263512:A96D	A	-	2	0	SLC10A3	153370187	0.093000	0.21703	0.136000	0.22124	0.342000	0.28953	0.284000	0.18864	0.954000	0.37851	0.529000	0.55759	GCC	SLC10A3	-	NULL	ENSG00000126903		0.597	SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A3	HGNC	protein_coding	OTTHUMT00000037235.3	-	0.00	62	0	G	NM_019848		153716993	-1	tier1	-	no_errors	ENST00000263512	ensembl	human	known	74_37	missense	5.48	69	4	SNP	0.629	T
SLC12A2	6558	genome.wustl.edu	37	5	127487078	127487079	+	Frame_Shift_Ins	INS	-	-	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:127487078_127487079insA	ENST00000262461.2	+	14	2442_2443	c.2253_2254insA	c.(2254-2256)aaafs	p.K752fs	SLC12A2_ENST00000343225.4_Frame_Shift_Ins_p.K752fs	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	752					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	ATGTTACCTACAAAAAACCAGG	0.347																																																	0																																										SO:0001589	frameshift_variant	0				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.2259dupA	5.37:g.127487084_127487084dupA	ENSP00000262461:p.Lys752fs		Q8N713|Q8WWH7	Frame_Shift_Ins	INS	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.P753fs	ENST00000262461.2	37	c.2253_2254	CCDS4144.1	5																																																																																			SLC12A2	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000064651		0.347	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1		0.00	68	0	-	NM_001046		127487079	+1	tier1		no_errors	ENST00000262461	ensembl	human	known	74_37	frame_shift_ins	16.87	69	14	INS	1.000:1.000	A
SLC25A38	54977	genome.wustl.edu	37	3	39431019	39431019	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:39431019T>A	ENST00000273158.4	+	2	480	c.103T>A	c.(103-105)Tcc>Acc	p.S35T		NM_017875.2	NP_060345.2			solute carrier family 25, member 38											breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCTGTGTGGCTCCATCAGTGG	0.517																																																	0													209.0	174.0	186.0					3																	39431019		2203	4300	6503	SO:0001583	missense	0			BC013194	CCDS2685.1	3p22.1	2013-05-22			ENSG00000144659	ENSG00000144659		"""Solute carriers"""	26054	protein-coding gene	gene with protein product		610819				16949250	Standard	NM_017875		Approved	FLJ20551	uc003cjo.2	Q96DW6	OTTHUMG00000131289	ENST00000273158.4:c.103T>A	3.37:g.39431019T>A	ENSP00000273158:p.Ser35Thr			Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.S35T	ENST00000273158.4	37	c.103	CCDS2685.1	3	.	.	.	.	.	.	.	.	.	.	t	22.3	4.266292	0.80358	.	.	ENSG00000144659	ENST00000273158;ENST00000431510	T;T	0.79653	-1.29;-1.29	4.77	4.77	0.60923	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	M	0.62088	1.915	0.47862	D	0.999536	D	0.67145	0.996	D	0.70487	0.969	D	0.87377	0.2354	10	0.56958	D	0.05	-25.1516	12.2936	0.54833	0.0:0.0:0.0:1.0	.	35	Q96DW6	S2538_HUMAN	T	35;31	ENSP00000273158:S35T;ENSP00000394244:S31T	ENSP00000273158:S35T	S	+	1	0	SLC25A38	39406023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.683000	0.61679	1.773000	0.52216	0.529000	0.55759	TCC	SLC25A38	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000144659		0.517	SLC25A38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A38	HGNC	protein_coding	OTTHUMT00000254057.3	-	0.00	91	0	T	NM_017875		39431019	+1	tier1	-	no_errors	ENST00000273158	ensembl	human	known	74_37	missense	12.37	85	12	SNP	1.000	A
SLC51B	123264	genome.wustl.edu	37	15	65345468	65345468	+	Frame_Shift_Del	DEL	T	T	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:65345468delT	ENST00000334287.2	+	4	674	c.353delT	c.(352-354)gttfs	p.V118fs		NM_178859.3	NP_849190.2	Q86UW2	OSTB_HUMAN	solute carrier family 51, beta subunit	118					bile acid and bile salt transport (GO:0015721)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein glycosylation (GO:0060050)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	GTGCTGTCAGTTTTCCTTCCG	0.478																																																	0													98.0	93.0	95.0					15																	65345468		2202	4299	6501	SO:0001589	frameshift_variant	0				CCDS10199.1	15q22.31	2013-05-22			ENSG00000186198	ENSG00000186198		"""Solute carriers"""	29956	protein-coding gene	gene with protein product	"""organic solute transporter beta subunit"""	612085				12719432, 20538072	Standard	NM_178859		Approved	OSTbeta	uc002aog.3	Q86UW2	OTTHUMG00000133116	ENST00000334287.2:c.353delT	15.37:g.65345468delT	ENSP00000335292:p.Val118fs		Q3SYF5	Frame_Shift_Del	DEL	NULL	p.F119fs	ENST00000334287.2	37	c.353	CCDS10199.1	15																																																																																			SLC51B	-	NULL	ENSG00000186198		0.478	SLC51B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC51B	HGNC	protein_coding	OTTHUMT00000256783.1		0.00	39	0	T	NM_178859		65345468	+1	tier1		no_errors	ENST00000334287	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.004	-
SLC9A5	6553	genome.wustl.edu	37	16	67304975	67304975	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:67304975T>C	ENST00000299798.11	+	16	2618	c.2553T>C	c.(2551-2553)tcT>tcC	p.S851S		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	851					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CTGGCCGCTCTCGCAGTGAGA	0.662																																																	0													29.0	34.0	33.0					16																	67304975		2080	4194	6274	SO:0001819	synonymous_variant	0				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2553T>C	16.37:g.67304975T>C			A5PKY7|Q9Y626	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S851	ENST00000299798.11	37	c.2553	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	T	8.858	0.946122	0.18356	.	.	ENSG00000135740	ENST00000360183	.	.	.	4.76	0.942	0.19525	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56347	-0.7994	5	0.59425	D	0.04	.	5.5934	0.17313	0.0:0.4069:0.1548:0.4382	.	.	.	.	P	363	.	ENSP00000353311:L363P	L	+	2	0	SLC9A5	65862476	0.000000	0.05858	0.997000	0.53966	0.956000	0.61745	-1.782000	0.01772	0.187000	0.20147	-0.403000	0.06358	CTC	SLC9A5	-	NULL	ENSG00000135740		0.662	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	-	0.00	40	0	T			67304975	+1	tier1	-	no_errors	ENST00000299798	ensembl	human	known	74_37	silent	14.71	58	10	SNP	0.817	C
SLIT1	6585	genome.wustl.edu	37	10	98820457	98820457	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:98820457T>C	ENST00000266058.4	-	9	1126	c.881A>G	c.(880-882)gAc>gGc	p.D294G	SLIT1_ENST00000371041.3_Missense_Mutation_p.D294G|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.D294G	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	294	LRRNT 2.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCACGACAGTCCACGATGCC	0.657																																																	0													77.0	66.0	69.0					10																	98820457		2203	4300	6503	SO:0001583	missense	0			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.881A>G	10.37:g.98820457T>C	ENSP00000266058:p.Asp294Gly		Q5T0V1|Q8WWZ2|Q9UIL7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.D294G	ENST00000266058.4	37	c.881	CCDS7453.1	10	.	.	.	.	.	.	.	.	.	.	T	25.4	4.635997	0.87760	.	.	ENSG00000187122	ENST00000266058;ENST00000371057;ENST00000371054;ENST00000371070;ENST00000314867;ENST00000456008;ENST00000371041	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	4.21	4.21	0.49690	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98077	0.9366	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98956	1.0796	10	0.87932	D	0	.	13.4598	0.61221	0.0:0.0:0.0:1.0	.	294;294	E7EWQ8;O75093	.;SLIT1_HUMAN	G	294;294;270;294;277;270;294	ENSP00000266058:D294G;ENSP00000360109:D294G;ENSP00000315005:D277G;ENSP00000360080:D294G	ENSP00000266058:D294G	D	-	2	0	SLIT1	98810447	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.868000	0.87116	1.776000	0.52262	0.459000	0.35465	GAC	SLIT1	-	pfam_LRR-contain_N,smart_LRR-contain_N	ENSG00000187122		0.657	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT1	HGNC	protein_coding	OTTHUMT00000049636.1	-	0.00	66	0	T	NM_003061		98820457	-1	tier1	-	no_errors	ENST00000266058	ensembl	human	known	74_37	missense	27.27	48	18	SNP	1.000	C
SLITRK5	26050	genome.wustl.edu	37	13	88328847	88328847	+	Missense_Mutation	SNP	G	G	A	rs369443848		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr13:88328847G>A	ENST00000325089.6	+	2	1423	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	SLITRK5_ENST00000400028.3_Missense_Mutation_p.A161T	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	402	LRRNT.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CGAGAGCATCGCTGAACTGCA	0.567																																																	0								G	THR/ALA	0,4406		0,0,2203	92.0	76.0	82.0		1204	4.8	0.7	13		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLITRK5	NM_015567.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	402/959	88328847	1,13005	2203	4300	6503	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1204G>A	13.37:g.88328847G>A	ENSP00000366283:p.Ala402Thr		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A402T	ENST00000325089.6	37	c.1204	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181449	0.38511	0.0	1.16E-4	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.43688	0.94;0.94	5.75	4.82	0.62117	Leucine-rich repeat-containing N-terminal (1);	0.060511	0.64402	D	0.000002	T	0.23054	0.0557	N	0.12182	0.205	0.38228	D	0.940945	B;B	0.19935	0.04;0.036	B;B	0.17979	0.02;0.011	T	0.12993	-1.0526	9	.	.	.	-8.5884	10.6191	0.45470	0.0:0.0:0.6877:0.3123	.	161;402	B4DSH5;O94991	.;SLIK5_HUMAN	T	402;161	ENSP00000366283:A402T;ENSP00000442244:A161T	.	A	+	1	0	SLITRK5	87126848	1.000000	0.71417	0.708000	0.30435	0.945000	0.59286	3.900000	0.56295	2.714000	0.92807	0.561000	0.74099	GCT	SLITRK5	-	NULL	ENSG00000165300		0.567	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3		0.00	20	0	G			88328847	+1			no_errors	ENST00000325089	ensembl	human	known	74_37	missense	13.04	20	3	SNP	0.967	A
SMG1	23049	genome.wustl.edu	37	16	18887619	18887619	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:18887619T>G	ENST00000446231.2	-	13	2129	c.1717A>C	c.(1717-1719)Act>Cct	p.T573P	SMG1_ENST00000565224.1_Missense_Mutation_p.T547P|SMG1_ENST00000389467.3_Missense_Mutation_p.T573P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	573	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGGCACAAGTCATTTCTCCC	0.403																																																	0													44.0	42.0	42.0					16																	18887619		1815	4074	5889	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1717A>C	16.37:g.18887619T>G	ENSP00000402515:p.Thr573Pro		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T573P	ENST00000446231.2	37	c.1717	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418868	0.42918	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01084	5.36;5.36	5.49	5.49	0.81192	Armadillo-type fold (1);	0.077091	0.51477	U	0.000098	T	0.01124	0.0037	N	0.19112	0.55	0.36482	D	0.867912	B	0.23058	0.079	B	0.23150	0.044	T	0.62253	-0.6893	10	0.34782	T	0.22	.	10.7408	0.46152	0.0:0.0744:0.0:0.9256	.	573	Q96Q15	SMG1_HUMAN	P	573	ENSP00000402515:T573P;ENSP00000374118:T573P	ENSP00000374118:T573P	T	-	1	0	SMG1	18795120	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.945000	0.56637	2.073000	0.62155	0.402000	0.26972	ACT	SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.403	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	-	0.00	253	0	T	NM_015092		18887619	-1	tier1	-	no_errors	ENST00000389467	ensembl	human	known	74_37	missense	10.86	238	29	SNP	1.000	G
PRSS12	8492	genome.wustl.edu	37	4	119200114	119200114	+	IGR	SNP	C	C	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:119200114C>G	ENST00000296498.3	-	0	4809				SNHG8_ENST00000384096.1_lincRNA	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)						exocytosis (GO:0006887)|zymogen activation (GO:0031638)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)|terminal bouton (GO:0043195)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CGGGCGTCCACGTGCAGCCCT	0.637																																																	0																																										SO:0001628	intergenic_variant	0			AJ001531	CCDS3709.1	4q25-q26	2010-05-07			ENSG00000164099	ENSG00000164099		"""Serine peptidases / Serine peptidases"""	9477	protein-coding gene	gene with protein product		606709				9540828, 9245503	Standard	NM_003619		Approved	BSSP-3, MRT1	uc003ica.2	P56730	OTTHUMG00000161166		4.37:g.119200114C>G			Q9UP16	RNA	SNP	-	NULL	ENST00000296498.3	37	NULL	CCDS3709.1	4																																																																																			SNHG8	-	-	ENSG00000269893		0.637	PRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG8	HGNC	protein_coding	OTTHUMT00000256516.2	-	0.00	8	0	C			119200114	+1	tier1	-	no_errors	ENST00000602414	ensembl	human	known	74_37	rna	50.00	6	6	SNP	0.645	G
SOX5	6660	genome.wustl.edu	37	12	23687389	23687389	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:23687389T>A	ENST00000451604.2	-	15	2157	c.2056A>T	c.(2056-2058)Atg>Ttg	p.M686L	SOX5_ENST00000381381.2_Missense_Mutation_p.M565L|SOX5_ENST00000537393.1_Missense_Mutation_p.M651L|SOX5_ENST00000309359.1_Missense_Mutation_p.M673L|SOX5_ENST00000541536.1_Missense_Mutation_p.M565L|SOX5_ENST00000396007.2_Missense_Mutation_p.M300L|SOX5_ENST00000545921.1_Missense_Mutation_p.M676L|SOX5_ENST00000546136.1_Missense_Mutation_p.M673L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	686					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGGGAGGGCATCCCAGCCATG	0.557																																																	0													73.0	64.0	67.0					12																	23687389		2203	4300	6503	SO:0001583	missense	0			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.2056A>T	12.37:g.23687389T>A	ENSP00000398273:p.Met686Leu		B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.M686L	ENST00000451604.2	37	c.2056	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	T	13.02	2.111959	0.37242	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.66	5.66	0.87406	.	0.034892	0.85682	D	0.000000	T	0.36690	0.0976	L	0.40543	1.245	0.34660	D	0.722626	B;B;B	0.25850	0.058;0.136;0.0	B;B;B	0.20384	0.01;0.029;0.002	T	0.46148	-0.9212	10	0.41790	T	0.15	.	16.2026	0.82095	0.0:0.0:0.0:1.0	.	565;686;300	P35711-4;P35711;P35711-3	.;SOX5_HUMAN;.	L	673;673;565;686;651;565;300;676	ENSP00000437487:M673L;ENSP00000308927:M673L;ENSP00000370788:M565L;ENSP00000398273:M686L;ENSP00000439832:M651L;ENSP00000441973:M565L;ENSP00000379328:M300L;ENSP00000443520:M676L	ENSP00000308927:M673L	M	-	1	0	SOX5	23578656	1.000000	0.71417	0.937000	0.37676	0.978000	0.69477	4.921000	0.63397	2.285000	0.76669	0.533000	0.62120	ATG	SOX5	-	NULL	ENSG00000134532		0.557	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	HGNC	protein_coding	OTTHUMT00000402006.2	-	0.00	28	0	T	NM_006940		23687389	-1	tier1	-	no_errors	ENST00000451604	ensembl	human	known	74_37	missense	13.89	31	5	SNP	0.996	A
SSBP2	23635	genome.wustl.edu	37	5	80742690	80742690	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:80742690C>T	ENST00000320672.4	-	12	985	c.775G>A	c.(775-777)Gca>Aca	p.A259T	SSBP2_ENST00000509053.1_Missense_Mutation_p.A229T|SSBP2_ENST00000514493.1_Missense_Mutation_p.A229T|SSBP2_ENST00000505980.1_Missense_Mutation_p.A239T|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000515395.1_Missense_Mutation_p.A237T	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	259	Gly-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		ACAATACCTGCTGGACTAGGC	0.353																																																	0													51.0	56.0	54.0					5																	80742690		2203	4300	6503	SO:0001583	missense	0			AF077048	CCDS4056.1, CCDS58960.1, CCDS58961.1, CCDS58962.1, CCDS58963.1, CCDS75268.1	5q14.1	2012-05-25	2001-11-28		ENSG00000145687	ENSG00000145687			15831	protein-coding gene	gene with protein product		607389	"""single-stranded DNA-binding protein 2"""			11230166, 11042152	Standard	NM_001256732		Approved	HSPC116	uc003khp.4	P81877	OTTHUMG00000119039	ENST00000320672.4:c.775G>A	5.37:g.80742690C>T	ENSP00000322977:p.Ala259Thr		B2R5W1|B7Z1J2|B7Z2L9|B7Z665|D6RH18|E9PB74|E9PDA8|Q8N2Q2|Q9BWW6|Q9Y4T7	Missense_Mutation	SNP	smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd	p.A259T	ENST00000320672.4	37	c.775	CCDS4056.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.340847	0.95783	.	.	ENSG00000145687	ENST00000320672;ENST00000509053;ENST00000514493;ENST00000380182;ENST00000504985;ENST00000512923;ENST00000505980;ENST00000515395	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.77922	0.4203	M	0.72894	2.215	0.58432	D	0.999998	D;P;D;D;P;P	0.67145	0.996;0.936;0.993;0.963;0.901;0.901	D;P;D;P;P;P	0.67548	0.952;0.683;0.952;0.849;0.636;0.636	T	0.71148	-0.4677	9	0.23302	T	0.38	.	20.2672	0.98462	0.0:1.0:0.0:0.0	.	229;237;239;212;237;259	E9PDA8;E9PB74;B7Z1J2;A6ND70;B7Z665;P81877	.;.;.;.;.;SSBP2_HUMAN	T	259;229;229;212;173;165;239;237	.	ENSP00000322977:A259T	A	-	1	0	SSBP2	80778446	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.668000	0.74457	2.894000	0.99253	0.591000	0.81541	GCA	SSBP2	-	NULL	ENSG00000145687		0.353	SSBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSBP2	HGNC	protein_coding	OTTHUMT00000239249.1	-	0.00	61	0	C	NM_012446		80742690	-1	tier1	-	no_errors	ENST00000320672	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	T
ST8SIA2	8128	genome.wustl.edu	37	15	92987970	92987970	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:92987970T>C	ENST00000268164.3	+	5	890	c.653T>C	c.(652-654)gTc>gCc	p.V218A	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.V197A	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	218					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GAGGACTTGGTCAATGCCACG	0.622																																																	0													60.0	56.0	58.0					15																	92987970		2198	4298	6496	SO:0001583	missense	0			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.653T>C	15.37:g.92987970T>C	ENSP00000268164:p.Val218Ala		Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.V218A	ENST00000268164.3	37	c.653	CCDS10372.1	15	.	.	.	.	.	.	.	.	.	.	T	8.244	0.807573	0.16467	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.21734	2.3;2.57;1.99	5.78	5.78	0.91487	.	0.272878	0.36134	N	0.002776	T	0.12220	0.0297	N	0.11818	0.18	0.35949	D	0.833746	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.13255	-1.0516	10	0.07813	T	0.8	-9.7515	16.0998	0.81163	0.0:0.0:0.0:1.0	.	197;218	C6G488;Q92186	.;SIA8B_HUMAN	A	218;197;175	ENSP00000268164:V218A;ENSP00000437382:V197A;ENSP00000450851:V175A	ENSP00000268164:V218A	V	+	2	0	ST8SIA2	90788974	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	2.018000	0.40991	2.199000	0.70637	0.533000	0.62120	GTC	ST8SIA2	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000140557		0.622	ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA2	HGNC	protein_coding	OTTHUMT00000313526.1	-	0.00	64	0	T	NM_006011		92987970	+1	tier1	-	no_errors	ENST00000268164	ensembl	human	known	74_37	missense	24.44	68	22	SNP	1.000	C
SYCP2L	221711	genome.wustl.edu	37	6	10955446	10955446	+	Silent	SNP	G	G	A	rs538404243		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:10955446G>A	ENST00000283141.6	+	24	2348	c.2052G>A	c.(2050-2052)ttG>ttA	p.L684L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	684						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AAAGAGAGTTGCCAGGTAACA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													114.0	114.0	114.0					6																	10955446		1937	4139	6076	SO:0001819	synonymous_variant	0			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2052G>A	6.37:g.10955446G>A		668	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Silent	SNP	NULL	p.L684	ENST00000283141.6	37	c.2052	CCDS43423.1	6																																																																																			SYCP2L	-	NULL	ENSG00000153157		0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2L	HGNC	protein_coding	OTTHUMT00000039845.3	-	0.00	34	0	G	NM_194299		10955446	+1	tier1	-	no_errors	ENST00000283141	ensembl	human	known	74_37	silent	19.23	21	5	SNP	0.129	A
TBC1D3P2	440452	genome.wustl.edu	37	17	60342145	60342145	+	RNA	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:60342145T>C	ENST00000581291.1	-	0	2008									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						AGGCTCACGGTGTCGTCAGAA	0.473																																																	0																																												0					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342145T>C				RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-	ENSG00000188755		0.473	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	-	0.00	22	0	T	NR_027486		60342145	-1	tier1	-	no_errors	ENST00000581291	ensembl	human	known	74_37	rna	24.14	22	7	SNP	0.054	C
TCERG1	10915	genome.wustl.edu	37	5	145838890	145838890	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:145838890G>A	ENST00000296702.5	+	4	920	c.882G>A	c.(880-882)caG>caA	p.Q294Q	TCERG1_ENST00000394421.2_Silent_p.Q294Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	294	Thr-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTTGCGCAGACAGTATCAA	0.463																																																	0													153.0	141.0	145.0					5																	145838890		2203	4300	6503	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.882G>A	5.37:g.145838890G>A			Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.Q294	ENST00000296702.5	37	c.882	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.463	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	-	0.00	76	0	G	NM_001040006		145838890	+1	tier1	-	no_errors	ENST00000296702	ensembl	human	known	74_37	silent	25.00	63	21	SNP	1.000	A
TECRL	253017	genome.wustl.edu	37	4	65170930	65170930	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:65170930A>G	ENST00000381210.3	-	7	794	c.684T>C	c.(682-684)acT>acC	p.T228T	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Silent_p.T228T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	228					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAATCCAAGAAGTAAATCCCC	0.308																																																	0													138.0	144.0	142.0					4																	65170930		2203	4299	6502	SO:0001819	synonymous_variant	0			AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.684T>C	4.37:g.65170930A>G				Silent	SNP	pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C	p.T228	ENST00000381210.3	37	c.684	CCDS33990.1	4																																																																																			TECRL	-	pfam_3-oxo-5_a-steroid_4-DH_C	ENSG00000205678		0.308	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECRL	HGNC	protein_coding	OTTHUMT00000361705.4	-	0.00	28	0	A	NM_001010874		65170930	-1	tier1	-	no_errors	ENST00000381210	ensembl	human	known	74_37	silent	30.00	21	9	SNP	0.998	G
TGFBR3	7049	genome.wustl.edu	37	1	92327064	92327064	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:92327064T>A	ENST00000525962.1	-	1	86	c.25A>T	c.(25-27)Atc>Ttc	p.I9F	TGFBR3_ENST00000212355.4_Missense_Mutation_p.I9F|TGFBR3_ENST00000370399.2_Missense_Mutation_p.I9F			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	9					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		AGGGCAAAGATGGCAATCACA	0.393																																																	0													146.0	135.0	139.0					1																	92327064		2203	4300	6503	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.25A>T	1.37:g.92327064T>A	ENSP00000436127:p.Ile9Phe		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.I9F	ENST00000525962.1	37	c.25	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	T	9.777	1.174159	0.21704	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892;ENST00000417833	T;T;T;T;T	0.35973	1.41;1.41;1.41;1.41;1.28	5.32	-9.89	0.00464	.	1.499430	0.03412	N	0.204884	T	0.08179	0.0204	N	0.24115	0.695	0.09310	N	1	B;B	0.16802	0.019;0.011	B;B	0.16289	0.015;0.007	T	0.30822	-0.9965	10	0.72032	D	0.01	1.3645	9.2702	0.37666	0.1038:0.6353:0.1051:0.1558	.	9;9	Q03167-2;Q03167	.;TGBR3_HUMAN	F	9	ENSP00000212355:I9F;ENSP00000359426:I9F;ENSP00000436127:I9F;ENSP00000432638:I9F;ENSP00000395975:I9F	ENSP00000212355:I9F	I	-	1	0	TGFBR3	92099652	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	-3.459000	0.00464	-1.965000	0.01010	-0.263000	0.10527	ATC	TGFBR3	-	NULL	ENSG00000069702		0.393	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	-	0.00	33	0	T	NM_003243		92327064	-1	tier1	-	no_errors	ENST00000212355	ensembl	human	known	74_37	missense	36.67	19	11	SNP	0.000	A
THEMIS	387357	genome.wustl.edu	37	6	128151008	128151008	+	Missense_Mutation	SNP	C	C	T	rs199738235		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:128151008C>T	ENST00000368248.2	-	3	470	c.322G>A	c.(322-324)Gga>Aga	p.G108R	THEMIS_ENST00000537166.1_Missense_Mutation_p.G73R|THEMIS_ENST00000543064.1_Missense_Mutation_p.G108R|THEMIS_ENST00000368250.1_Missense_Mutation_p.G29R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	108	CABIT 1.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTACTTGGTCCAATATGAATG	0.373																																																	0													71.0	71.0	71.0					6																	128151008		2203	4300	6503	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.322G>A	6.37:g.128151008C>T	ENSP00000357231:p.Gly108Arg		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.G108R	ENST00000368248.2	37	c.322	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	C	18.83	3.708220	0.68615	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.20069	2.1;2.14;2.11;2.11	5.87	5.01	0.66863	.	0.056293	0.64402	N	0.000001	T	0.10208	0.0250	L	0.38175	1.15	0.46241	D	0.998941	B;P	0.43885	0.418;0.82	B;B	0.39706	0.184;0.307	T	0.02925	-1.1093	10	0.46703	T	0.11	-18.0526	15.0928	0.72207	0.0:0.9325:0.0:0.0675	.	108;108	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	29;108;108;73	ENSP00000357233:G29R;ENSP00000439594:G108R;ENSP00000357231:G108R;ENSP00000439863:G73R	ENSP00000357231:G108R	G	-	1	0	THEMIS	128192701	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.191000	0.50981	1.504000	0.48704	0.650000	0.86243	GGA	THEMIS	-	NULL	ENSG00000172673		0.373	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		-	0.00	40	0	C	NM_001010923		128151008	-1	tier1	rs199738235	no_errors	ENST00000543064	ensembl	human	known	74_37	missense	33.33	30	15	SNP	1.000	T
TMC1	117531	genome.wustl.edu	37	9	75431120	75431120	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:75431120T>C	ENST00000297784.5	+	19	2297	c.1757T>C	c.(1756-1758)aTg>aCg	p.M586T	TMC1_ENST00000340019.3_Missense_Mutation_p.M586T|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000396237.3_Missense_Mutation_p.M586T	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	586					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AACCAAGGCATGATCTGGTAG	0.458																																					Pancreas(75;173 1345 14232 34245 43413)												0													183.0	145.0	158.0					9																	75431120		2203	4300	6503	SO:0001583	missense	0			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1757T>C	9.37:g.75431120T>C	ENSP00000297784:p.Met586Thr		A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.M586T	ENST00000297784.5	37	c.1757	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	T	24.9	4.577289	0.86645	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.64260	-0.09;-0.09;-0.09	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.79834	0.4514	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.67145	0.992;0.992;0.996	D;D;D	0.71870	0.953;0.953;0.975	T	0.82076	-0.0636	10	0.87932	D	0	-29.8285	16.8061	0.85666	0.0:0.0:0.0:1.0	.	553;553;586	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	T	586;586;553;553;553;580;586	ENSP00000297784:M586T;ENSP00000341433:M586T;ENSP00000379538:M586T	ENSP00000297784:M586T	M	+	2	0	TMC1	74620940	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	ATG	TMC1	-	pfam_TMC	ENSG00000165091		0.458	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	-	0.00	42	0	T			75431120	+1	tier1	-	no_errors	ENST00000297784	ensembl	human	known	74_37	missense	14.89	40	7	SNP	1.000	C
TLE1	7088	genome.wustl.edu	37	9	84235427	84235427	+	Missense_Mutation	SNP	G	G	A	rs374215758		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr9:84235427G>A	ENST00000376499.3	-	9	1704	c.640C>T	c.(640-642)Cgc>Tgc	p.R214C	TLE1_ENST00000464999.1_5'UTR|TLE1_ENST00000376472.1_De_novo_Start_OutOfFrame	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	214	CCN domain.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCATTTCTGCGTTTATCTGTG	0.383																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								G	CYS/ARG	0,4406		0,0,2203	189.0	167.0	174.0		640	5.9	1.0	9		174	1,8599	1.2+/-3.3	0,1,4299	no	missense	TLE1	NM_005077.3	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	214/771	84235427	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.640C>T	9.37:g.84235427G>A	ENSP00000365682:p.Arg214Cys		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R214C	ENST00000376499.3	37	c.640	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857797	0.71834	0.0	1.16E-4	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319	T;T	0.47869	0.83;1.42	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	L	0.47716	1.5	0.80722	D	1	D;P;D;D;D	0.69078	0.992;0.843;0.997;0.994;0.989	D;B;P;B;P	0.66602	0.945;0.39;0.776;0.353;0.462	T	0.58222	-0.7674	10	0.49607	T	0.09	-26.0592	15.0693	0.72024	0.0:0.0:0.8582:0.1418	.	140;214;241;224;214	B4E345;B4DEF9;Q59EF7;Q5T3G3;Q04724	.;.;.;.;TLE1_HUMAN	C	214;224;224	ENSP00000365682:R214C;ENSP00000391347:R224C	ENSP00000347102:R224C	R	-	1	0	TLE1	83425247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.826000	0.86716	2.791000	0.96007	0.655000	0.94253	CGC	TLE1	-	NULL	ENSG00000196781		0.383	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0.00	49	0	G	NM_005077		84235427	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	missense	15.00	34	6	SNP	1.000	A
TMEM161B	153396	genome.wustl.edu	37	5	87493695	87493695	+	Intron	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr5:87493695G>A	ENST00000296595.6	-	11	1214				TMEM161B_ENST00000512429.1_Intron|TMEM161B_ENST00000515293.1_5'UTR|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000514135.1_Intron	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B							integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		TTCACAAGAAGGAAGCTAAAT	0.333																																																	0																																										SO:0001627	intron_variant	0			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.1090-113C>T	5.37:g.87493695G>A			Q5CZH7|Q6UWQ6	RNA	SNP	-	NULL	ENST00000296595.6	37	NULL	CCDS4065.1	5																																																																																			TMEM161B	-	-	ENSG00000164180		0.333	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	-	0.00	17	0	G	NM_153354		87493695	-1	tier1	-	no_errors	ENST00000515293	ensembl	human	known	74_37	rna	20.00	12	3	SNP	0.190	A
TP53	7157	genome.wustl.edu	37	17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr17:7577117A>C	ENST00000269305.4	-	8	1010	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V274G|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.V274G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ACAGGCACAAACACGCACCTC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	52	Substitution - Missense(36)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(2)|Deletion - Frameshift(1)	breast(8)|upper_aerodigestive_tract(6)|liver(6)|haematopoietic_and_lymphoid_tissue(5)|lung(4)|ovary(4)|bone(4)|large_intestine(3)|central_nervous_system(2)|urinary_tract(2)|prostate(2)|stomach(1)|soft_tissue(1)|endometrium(1)|skin(1)|oesophagus(1)|pancreas(1)											70.0	60.0	64.0					17																	7577117		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.821T>G	17.37:g.7577117A>C	ENSP00000269305:p.Val274Gly		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V274G	ENST00000269305.4	37	c.821	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.2	4.257582	0.80246	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99836	-7.05;-7.05;-7.05;-7.05;-7.05;-7.05	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.312804	0.33382	N	0.004980	D	0.99802	0.9915	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.61697	0.99;0.983;0.97;0.977	D;D;D;D	0.91635	0.998;0.996;0.999;0.998	D	0.96805	0.9592	10	0.87932	D	0	-10.2267	12.5624	0.56288	1.0:0.0:0.0:0.0	.	274;274;274;274	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	G	274;274;274;274;274;263;142	ENSP00000352610:V274G;ENSP00000269305:V274G;ENSP00000398846:V274G;ENSP00000391127:V274G;ENSP00000391478:V274G;ENSP00000425104:V142G	ENSP00000269305:V274G	V	-	2	0	TP53	7517842	0.970000	0.33590	0.681000	0.30009	0.775000	0.43874	9.060000	0.93907	2.067000	0.61834	0.379000	0.24179	GTT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	44	0	A	NM_000546		7577117	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	34.78	30	16	SNP	0.955	C
TRIM49B	283116	genome.wustl.edu	37	11	49059498	49059498	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr11:49059498T>G	ENST00000332682.7	+	7	1356	c.1328T>G	c.(1327-1329)cTc>cGc	p.L443R		NM_001206626.1	NP_001193555.1	A6NDI0	TR49B_HUMAN	tripartite motif containing 49B	443	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			lung(8)	8						TCACCTCCTCTCAGGCCTATC	0.438																																																	0																																										SO:0001583	missense	0				CCDS55762.1	11p11.12	2014-02-17			ENSG00000182053	ENSG00000182053		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	42955	protein-coding gene	gene with protein product							Standard	NM_001206626		Approved		uc021qix.1	A6NDI0		ENST00000332682.7:c.1328T>G	11.37:g.49059498T>G	ENSP00000330216:p.Leu443Arg			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L443R	ENST00000332682.7	37	c.1328	CCDS55762.1	11	.	.	.	.	.	.	.	.	.	.	T	11.65	1.702899	0.30232	.	.	ENSG00000182053	ENST00000332682	T	0.78364	-1.17	0.689	0.689	0.18033	.	.	.	.	.	D	0.87708	0.6245	H	0.95470	3.675	0.09310	N	1	.	.	.	.	.	.	T	0.78453	-0.2198	6	0.87932	D	0	.	.	.	.	.	.	.	.	R	443	ENSP00000330216:L443R	ENSP00000330216:L443R	L	+	2	0	AC084851.1	49016074	0.002000	0.14202	0.038000	0.18304	0.324000	0.28378	0.785000	0.26830	0.539000	0.28788	0.155000	0.16302	CTC	TRIM49B	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000182053		0.438	TRIM49B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49B	HGNC	protein_coding		-	0.00	105	0	T			49059498	+1	tier1	-	no_errors	ENST00000332682	ensembl	human	known	74_37	missense	19.83	93	23	SNP	0.160	G
TRIM56	81844	genome.wustl.edu	37	7	100730995	100730995	+	Silent	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:100730995G>A	ENST00000306085.6	+	3	699	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	134					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGCCGACGGGCACCGCTGCA	0.736																																					Ovarian(89;1092 1379 22756 38989 39611)												0													10.0	13.0	12.0					7																	100730995		2003	4110	6113	SO:0001819	synonymous_variant	0			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.402G>A	7.37:g.100730995G>A			Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.G134	ENST00000306085.6	37	c.402	CCDS43625.1	7																																																																																			TRIM56	-	NULL	ENSG00000169871		0.736	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1		0.00	28	0	G	NM_030961		100730995	+1			no_errors	ENST00000306085	ensembl	human	known	74_37	silent	11.24	79	10	SNP	0.997	A
TSHB	7252	genome.wustl.edu	37	1	115576592	115576592	+	Splice_Site	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:115576592A>C	ENST00000369517.1	+	2	162		c.e2-1		TSHB_ENST00000256592.1_Splice_Site			P01222	TSHB_HUMAN	thyroid stimulating hormone, beta						anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|G-protein coupled receptor signaling pathway (GO:0007186)|peptide hormone processing (GO:0016486)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to vitamin A (GO:0033189)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TTCTTTCCCCAGGATATCAAT	0.358																																																	0													159.0	160.0	160.0					1																	115576592		2203	4300	6503	SO:0001630	splice_region_variant	0			BC069298	CCDS880.1	1p13	2013-02-28			ENSG00000134200	ENSG00000134200		"""Endogenous ligands"""	12372	protein-coding gene	gene with protein product		188540				2457586, 3243440	Standard	NM_000549		Approved		uc001efs.2	P01222	OTTHUMG00000011881	ENST00000369517.1:c.163-1A>C	1.37:g.115576592A>C			B1AKP0|Q16163	Splice_Site	SNP	-	e2-2	ENST00000369517.1	37	c.163-2	CCDS880.1	1	.	.	.	.	.	.	.	.	.	.	A	16.80	3.223113	0.58668	.	.	ENSG00000134200	ENST00000256592;ENST00000369517	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6528	0.77110	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TSHB	115378115	1.000000	0.71417	0.984000	0.44739	0.911000	0.54048	6.877000	0.75562	2.170000	0.68504	0.533000	0.62120	.	TSHB	-	-	ENSG00000134200		0.358	TSHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHB	HGNC	protein_coding	OTTHUMT00000032833.2	-	0.00	110	0	A	NM_000549	Intron	115576592	+1	tier1	-	no_errors	ENST00000256592	ensembl	human	known	74_37	splice_site	34.43	80	42	SNP	0.993	C
TRIM58	25893	genome.wustl.edu	37	1	248039573	248039573	+	Silent	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:248039573T>C	ENST00000366481.3	+	6	1291	c.1243T>C	c.(1243-1245)Ttg>Ctg	p.L415L	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	415	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGGGATTTTCTTGGACTATGA	0.473																																																	0													167.0	173.0	171.0					1																	248039573		2203	4300	6503	SO:0001819	synonymous_variant	0			AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.1243T>C	1.37:g.248039573T>C			Q6B0H9	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L415	ENST00000366481.3	37	c.1243	CCDS1636.1	1																																																																																			TRIM58	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000162722		0.473	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	HGNC	protein_coding	OTTHUMT00000096860.1	-	0.00	98	0	T	NM_015431		248039573	+1	tier1	-	no_errors	ENST00000366481	ensembl	human	known	74_37	silent	12.24	86	12	SNP	0.883	C
TSHZ2	128553	genome.wustl.edu	37	20	51871026	51871026	+	Silent	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:51871026T>G	ENST00000371497.5	+	2	1916	c.1029T>G	c.(1027-1029)tcT>tcG	p.S343S	TSHZ2_ENST00000603338.2_Silent_p.S340S|TSHZ2_ENST00000329613.6_Silent_p.S340S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	343					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCAGATTCTTTTTCTTCTC	0.493																																																	0													78.0	86.0	83.0					20																	51871026		2203	4300	6503	SO:0001819	synonymous_variant	0			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.1029T>G	20.37:g.51871026T>G			B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.S343	ENST00000371497.5	37	c.1029	CCDS33490.1	20																																																																																			TSHZ2	-	NULL	ENSG00000182463		0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ2	HGNC	protein_coding	OTTHUMT00000080398.6	-	0.00	49	0	T	NM_173485		51871026	+1	tier1	-	no_errors	ENST00000371497	ensembl	human	known	74_37	silent	13.73	44	7	SNP	0.016	G
TTC31	64427	genome.wustl.edu	37	2	74718460	74718460	+	Silent	SNP	C	C	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:74718460C>A	ENST00000233623.5	+	7	649	c.642C>A	c.(640-642)tcC>tcA	p.S214S	TTC31_ENST00000442235.2_Silent_p.S70S|TTC31_ENST00000463189.1_3'UTR|TTC31_ENST00000410003.1_Silent_p.S214S	NM_022492.4	NP_071937.4	Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	214								p.S214S(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCCCCCATCCAGCCCTGGAA	0.542																																																	1	Substitution - coding silent(1)	breast(1)											98.0	107.0	104.0					2																	74718460		1909	4116	6025	SO:0001819	synonymous_variant	0			AK026819	CCDS42701.1	2p13.1	2013-01-11			ENSG00000115282	ENSG00000115282		"""Tetratricopeptide (TTC) repeat domain containing"""	25759	protein-coding gene	gene with protein product						12477932	Standard	NM_022492		Approved	FLJ12788	uc002slt.2	Q49AM3	OTTHUMG00000152887	ENST00000233623.5:c.642C>A	2.37:g.74718460C>A			Q4KN40|Q53FD4|Q9H9F7	Silent	SNP	NULL	p.S70	ENST00000233623.5	37	c.210	CCDS42701.1	2																																																																																			TTC31	-	NULL	ENSG00000115282		0.542	TTC31-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TTC31	HGNC	protein_coding	OTTHUMT00000328422.1		0.00	25	0	C	NM_022492		74718460	+1			no_errors	ENST00000442235	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.002	A
TTLL5	23093	genome.wustl.edu	37	14	76211920	76211920	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr14:76211920T>C	ENST00000298832.9	+	17	1688	c.1483T>C	c.(1483-1485)Tat>Cat	p.Y495H	TTLL5_ENST00000557636.1_Missense_Mutation_p.Y509H|TTLL5_ENST00000556893.1_Missense_Mutation_p.Y33H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_5'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	495					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGGGAAATATATGGGTGAGG	0.393																																																	0													119.0	111.0	113.0					14																	76211920		2203	4300	6503	SO:0001583	missense	0			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1483T>C	14.37:g.76211920T>C	ENSP00000298832:p.Tyr495His		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_TTL/TTLL_fam	p.Y495H	ENST00000298832.9	37	c.1483	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	T	22.5	4.298311	0.81025	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893	T;T;T	0.65549	2.42;2.66;-0.16	5.86	5.86	0.93980	.	0.213565	0.50627	D	0.000105	T	0.78767	0.4335	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.81293	-0.0998	10	0.87932	D	0	.	14.4777	0.67559	0.0:0.0:0.0:1.0	.	509;33;495	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	H	182;509;495;33;33	ENSP00000450713:Y509H;ENSP00000298832:Y495H;ENSP00000452524:Y33H	ENSP00000298832:Y495H	Y	+	1	0	TTLL5	75281673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.751000	0.68720	2.241000	0.73720	0.533000	0.62120	TAT	TTLL5	-	NULL	ENSG00000119685		0.393	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1		0.00	53	0	T	NM_015072		76211920	+1			no_errors	ENST00000298832	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	C
TUBE1	51175	genome.wustl.edu	37	6	112397266	112397266	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr6:112397266T>G	ENST00000368662.5	-	8	764	c.686A>C	c.(685-687)aAg>aCg	p.K229T	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	229					centrosome cycle (GO:0007098)|protein polymerization (GO:0051258)	microtubule (GO:0005874)|pericentriolar material (GO:0000242)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	Vinblastine(DB00570)	TGTACCCAACTTTCCAGAATT	0.388																																																	0													151.0	163.0	159.0					6																	112397266		2203	4300	6503	SO:0001583	missense	0			AF201334	CCDS5100.1	6q21	2005-11-03			ENSG00000074935	ENSG00000074935		"""Tubulins"""	20775	protein-coding gene	gene with protein product		607345				10620804	Standard	NM_016262		Approved	dJ142L7.2, FLJ22589, TUBE	uc003pvq.3	Q9UJT0	OTTHUMG00000015382	ENST00000368662.5:c.686A>C	6.37:g.112397266T>G	ENSP00000357651:p.Lys229Thr		Q5H8W8|Q8NEG3	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Epsilon_tubulin,prints_Tubulin	p.K229T	ENST00000368662.5	37	c.686	CCDS5100.1	6	.	.	.	.	.	.	.	.	.	.	T	15.91	2.971262	0.53614	.	.	ENSG00000074935	ENST00000368658;ENST00000368662;ENST00000441191	T	0.79352	-1.26	5.92	4.77	0.60923	Tubulin/FtsZ, GTPase domain (3);	0.042664	0.85682	D	0.000000	T	0.56891	0.2016	L	0.38838	1.175	0.80722	D	1	B	0.25235	0.121	B	0.29440	0.102	T	0.59075	-0.7522	10	0.49607	T	0.09	.	11.8778	0.52558	0.0:0.0678:0.0:0.9322	.	229	Q9UJT0	TBE_HUMAN	T	185;229;185	ENSP00000357651:K229T	ENSP00000357647:K185T	K	-	2	0	TUBE1	112503959	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.906000	0.63293	1.068000	0.40764	0.528000	0.53228	AAG	TUBE1	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase	ENSG00000074935		0.388	TUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBE1	HGNC	protein_coding	OTTHUMT00000041867.1	-	0.00	33	0	T	NM_016262		112397266	-1	tier1	-	no_errors	ENST00000368662	ensembl	human	known	74_37	missense	20.41	39	10	SNP	1.000	G
TMPRSS11F	389208	genome.wustl.edu	37	4	68928601	68928601	+	Intron	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr4:68928601A>C	ENST00000356291.2	-	8	1075				UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAATTTTTTAAGTGGCTGCCT	0.423																																																	0													159.0	165.0	163.0					4																	68928601		2203	4300	6503	SO:0001627	intron_variant	0			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1015+1801T>G	4.37:g.68928601A>C			A8MXX2	RNA	SNP	-	NULL	ENST00000356291.2	37	NULL	CCDS3520.1	4																																																																																			UBA6-AS1	-	-	ENSG00000248049		0.423	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6-AS1	HGNC	protein_coding	OTTHUMT00000251439.1	-	0.00	58	0	A	NM_207407		68928601	+1	tier1	-	no_errors	ENST00000500538	ensembl	human	known	74_37	rna	13.11	53	8	SNP	1.000	C
UBR4	23352	genome.wustl.edu	37	1	19454777	19454777	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:19454777T>G	ENST00000375254.3	-	62	9066	c.9039A>C	c.(9037-9039)gaA>gaC	p.E3013D	UBR4_ENST00000375217.2_Missense_Mutation_p.E3006D|UBR4_ENST00000375226.2_Missense_Mutation_p.E2989D|UBR4_ENST00000375267.2_Missense_Mutation_p.E3013D	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3013					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTTTCTCATCTTCTCCATCCA	0.438																																																	0													130.0	137.0	135.0					1																	19454777		2203	4300	6503	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9039A>C	1.37:g.19454777T>G	ENSP00000364403:p.Glu3013Asp		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E3013D	ENST00000375254.3	37	c.9039	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054419	0.36277	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.65	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.20740	0.0499	L	0.56769	1.78	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11131	-1.0600	10	0.22109	T	0.4	.	3.9774	0.09479	0.1537:0.1622:0.0:0.6841	.	3013	Q5T4S7	UBR4_HUMAN	D	3013;3013;3006;2989;621;1699	ENSP00000364403:E3013D;ENSP00000364416:E3013D;ENSP00000364365:E3006D;ENSP00000364374:E2989D	ENSP00000364365:E3006D	E	-	3	2	UBR4	19327364	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.901000	0.28445	0.981000	0.38548	0.533000	0.62120	GAA	UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.438	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	-	0.00	50	0	T	NM_020765		19454777	-1	tier1	-	no_errors	ENST00000375267	ensembl	human	known	74_37	missense	10.91	49	6	SNP	1.000	G
USP24	23358	genome.wustl.edu	37	1	55573052	55573052	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:55573052T>G	ENST00000294383.6	-	40	4621	c.4622A>C	c.(4621-4623)gAg>gCg	p.E1541A	USP24_ENST00000407756.1_Missense_Mutation_p.E1381A	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1541					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CCAAGTAATCTCATCTTCAAG	0.423																																																	0													103.0	98.0	100.0					1																	55573052		1965	4156	6121	SO:0001583	missense	0			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.4622A>C	1.37:g.55573052T>G	ENSP00000294383:p.Glu1541Ala		Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67	p.E1381A	ENST00000294383.6	37	c.4142	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.980203	0.92982	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.69806	-0.43;-0.43	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.80303	0.4598	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.79818	-0.1643	10	0.42905	T	0.14	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	1381	B7WPF4	.	A	1541;1381	ENSP00000294383:E1541A;ENSP00000385700:E1381A	ENSP00000294383:E1541A	E	-	2	0	USP24	55345640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.698000	0.84413	2.255000	0.74692	0.533000	0.62120	GAG	USP24	-	superfamily_ARM-type_fold	ENSG00000162402		0.423	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	-	0.00	57	0	T			55573052	-1	tier1	-	no_errors	ENST00000407756	ensembl	human	known	74_37	missense	12.28	50	7	SNP	1.000	G
USP21	27005	genome.wustl.edu	37	1	161132109	161132109	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:161132109G>A	ENST00000289865.8	+	4	931	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	USP21_ENST00000368001.1_Missense_Mutation_p.R237Q|RP11-297K8.2_ENST00000420498.1_RNA|USP21_ENST00000368002.3_Missense_Mutation_p.R237Q	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	237	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGACCTCTTCGGGACTTCTGT	0.587																																																	0													69.0	70.0	69.0					1																	161132109		2203	4300	6503	SO:0001583	missense	0			AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.710G>A	1.37:g.161132109G>A	ENSP00000289865:p.Arg237Gln		Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.R237Q	ENST00000289865.8	37	c.710	CCDS30920.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.999503	0.74818	.	.	ENSG00000143258	ENST00000368002;ENST00000289865;ENST00000368001	T;T;T	0.35048	1.33;1.33;1.33	4.69	4.69	0.59074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.318659	0.29100	N	0.013159	T	0.35828	0.0945	L	0.48642	1.525	0.49299	D	0.999779	D	0.71674	0.998	P	0.55112	0.769	T	0.12785	-1.0534	10	0.54805	T	0.06	.	14.652	0.68805	0.0:0.0:1.0:0.0	.	237	Q9UK80	UBP21_HUMAN	Q	237	ENSP00000356981:R237Q;ENSP00000289865:R237Q;ENSP00000356980:R237Q	ENSP00000289865:R237Q	R	+	2	0	USP21	159398733	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.543000	0.90651	2.418000	0.82041	0.555000	0.69702	CGG	USP21	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	ENSG00000143258		0.587	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	USP21	HGNC	protein_coding	OTTHUMT00000080801.1	-	0.00	48	0	G			161132109	+1	tier1	-	no_errors	ENST00000289865	ensembl	human	known	74_37	missense	45.10	28	23	SNP	1.000	A
VAPB	9217	genome.wustl.edu	37	20	57009727	57009727	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr20:57009727T>G	ENST00000475243.1	+	3	619	c.281T>G	c.(280-282)tTt>tGt	p.F94C	VAPB_ENST00000395802.3_Intron|VAPB_ENST00000265619.2_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	94	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CAGTCTATGTTTGCTCCAACT	0.323																																																	0													147.0	134.0	138.0					20																	57009727		2203	4300	6503	SO:0001583	missense	0			AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.281T>G	20.37:g.57009727T>G	ENSP00000417175:p.Phe94Cys		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	p.F94C	ENST00000475243.1	37	c.281	CCDS33498.1	20	.	.	.	.	.	.	.	.	.	.	T	18.50	3.637969	0.67130	.	.	ENSG00000124164	ENST00000475243	T	0.71934	-0.61	5.55	5.55	0.83447	PapD-like (2);	0.182912	0.52532	D	0.000076	D	0.83298	0.5224	M	0.89214	3.015	0.80722	D	1	D	0.69078	0.997	P	0.56163	0.793	D	0.85729	0.1330	10	0.46703	T	0.11	-17.7729	15.71	0.77620	0.0:0.0:0.0:1.0	.	94	O95292	VAPB_HUMAN	C	94	ENSP00000417175:F94C	ENSP00000417175:F94C	F	+	2	0	VAPB	56443133	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.105000	0.64084	0.533000	0.62120	TTT	VAPB	-	pfam_MSP_dom,superfamily_PapD-like,pirsf_Vesicle-associated_membrane,pfscan_MSP_dom	ENSG00000124164		0.323	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAPB	HGNC	protein_coding	OTTHUMT00000079875.2	-	0.00	65	0	T			57009727	+1	tier1	-	no_errors	ENST00000475243	ensembl	human	known	74_37	missense	25.76	49	17	SNP	1.000	G
VWA3A	146177	genome.wustl.edu	37	16	22111591	22111591	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:22111591G>A	ENST00000389398.5	+	4	398	c.302G>A	c.(301-303)tGt>tAt	p.C101Y	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	101						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGTTTAAAATGTCAGAAACTC	0.527																																																	0													77.0	72.0	73.0					16																	22111591		692	1591	2283	SO:0001583	missense	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.302G>A	16.37:g.22111591G>A	ENSP00000374049:p.Cys101Tyr		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.C101Y	ENST00000389398.5	37	c.302	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.980164	0.00448	.	.	ENSG00000175267	ENST00000389398	T	0.10288	2.89	5.42	-2.81	0.05805	.	0.499342	0.19174	N	0.120880	T	0.02380	0.0073	N	0.03608	-0.345	0.20307	N	0.999915	B	0.02656	0.0	B	0.04013	0.001	T	0.39057	-0.9632	10	0.02654	T	1	.	1.9343	0.03333	0.1364:0.3613:0.1517:0.3506	.	101	A6NCI4	VWA3A_HUMAN	Y	101	ENSP00000374049:C101Y	ENSP00000374049:C101Y	C	+	2	0	VWA3A	22019092	0.002000	0.14202	0.368000	0.25939	0.329000	0.28539	-0.582000	0.05814	-0.188000	0.10499	-0.397000	0.06425	TGT	VWA3A	-	NULL	ENSG00000175267		0.527	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	-	0.00	35	0	G			22111591	+1	tier1	-	no_errors	ENST00000389398	ensembl	human	known	74_37	missense	11.43	31	4	SNP	0.011	A
VWA5B1	127731	genome.wustl.edu	37	1	20644152	20644152	+	Silent	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr1:20644152G>T	ENST00000375079.2	+	5	889	c.693G>T	c.(691-693)ggG>ggT	p.G231G	RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000289815.8_Silent_p.G231G|VWA5B1_ENST00000289825.4_5'UTR|VWA5B1_ENST00000375083.4_Silent_p.G231G	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	231						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						AGATCCGTGGGCCATGTCTGC	0.597																																																	0													87.0	77.0	80.0					1																	20644152		692	1591	2283	SO:0001819	synonymous_variant	0			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.693G>T	1.37:g.20644152G>T			A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G231	ENST00000375079.2	37	c.693		1																																																																																			VWA5B1	-	NULL	ENSG00000158816		0.597	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4		0.00	54	0	G	XM_001722222		20644152	+1			no_errors	ENST00000289815	ensembl	human	known	74_37	silent	6.12	46	3	SNP	0.999	T
WDFY4	57705	genome.wustl.edu	37	10	50178291	50178291	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:50178291T>A	ENST00000325239.5	+	56	8912	c.8885T>A	c.(8884-8886)cTc>cAc	p.L2962H	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2962						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GTGTGGGAGCTCAGCATGACC	0.642																																																	0													73.0	71.0	72.0					10																	50178291		692	1591	2283	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8885T>A	10.37:g.50178291T>A	ENSP00000320563:p.Leu2962His		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L2962H	ENST00000325239.5	37	c.8885	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	26.4|26.4	4.737588|4.737588	0.89482|0.89482	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000544136|ENST00000265453	T|.	0.37235|.	1.21|.	5.45|5.45	5.45|5.45	0.79879|0.79879	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.157373|.	0.44285|.	D|.	0.000469|.	T|T	0.73133|0.73133	0.3548|0.3548	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.998;0.999|.	P;P|.	0.62649|.	0.808;0.905|.	T|T	0.73414|0.73414	-0.3990|-0.3990	9|5	.|.	.|.	.|.	.|.	14.6488|14.6488	0.68780|0.68780	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	425;2962|.	B4DWY9;Q6ZS81|.	.;WDFY4_HUMAN|.	H|T	2962;2962;425|1049	ENSP00000320563:L2962H|.	.|.	L|S	+|+	2|1	0|0	WDFY4|WDFY4	49848297|49848297	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.986000|0.986000	0.74619|0.74619	5.386000|5.386000	0.66238|0.66238	2.190000|2.190000	0.69967|0.69967	0.523000|0.523000	0.50628|0.50628	CTC|TCA	WDFY4	-	superfamily_WD40_repeat_dom	ENSG00000128815		0.642	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		-	0.00	58	0	T	XM_033379		50178291	+1	tier1	-	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	A
WDR11	55717	genome.wustl.edu	37	10	122663626	122663626	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr10:122663626G>T	ENST00000263461.6	+	24	3245	c.2999G>T	c.(2998-3000)tGt>tTt	p.C1000F	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0	Mediates interaction with IRS1. {ECO:0000250}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.C1000Y(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ACAAGGAAATGTACAGACCAG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											110.0	110.0	110.0					10																	122663626		2203	4300	6503	SO:0001583	missense	0			AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2999G>T	10.37:g.122663626G>T	ENSP00000263461:p.Cys1000Phe		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.C1000F	ENST00000263461.6	37	c.2999	CCDS7619.1	10	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858948	0.91433	.	.	ENSG00000120008	ENST00000263461	D	0.91464	-2.85	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.94791	0.8318	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.71674	0.998;0.995;0.996;0.972	D;D;D;P	0.78314	0.991;0.986;0.931;0.549	D	0.94065	0.7330	10	0.52906	T	0.07	-19.3312	20.1802	0.98196	0.0:0.0:1.0:0.0	.	1000;1000;291;529	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	F	1000	ENSP00000263461:C1000F	ENSP00000263461:C1000F	C	+	2	0	WDR11	122653616	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	8.816000	0.91979	2.777000	0.95525	0.655000	0.94253	TGT	WDR11	-	NULL	ENSG00000120008		0.338	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	WDR11	HGNC	protein_coding	OTTHUMT00000050707.2		0.00	22	0	G			122663626	+1			no_errors	ENST00000263461	ensembl	human	known	74_37	missense	20.00	8	2	SNP	1.000	T
WDR75	84128	genome.wustl.edu	37	2	190340080	190340080	+	Missense_Mutation	SNP	A	A	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:190340080A>C	ENST00000314761.4	+	21	2490	c.2430A>C	c.(2428-2430)aaA>aaC	p.K810N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	810						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AGTTGTCAAAATCTGAAGAAA	0.368																																																	0													53.0	53.0	53.0					2																	190340080		2203	4300	6503	SO:0001583	missense	0			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.2430A>C	2.37:g.190340080A>C	ENSP00000314193:p.Lys810Asn		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K810N	ENST00000314761.4	37	c.2430	CCDS2298.1	2	.	.	.	.	.	.	.	.	.	.	A	19.45	3.829813	0.71258	.	.	ENSG00000115368	ENST00000314761	T	0.64618	-0.11	5.36	2.91	0.33838	.	0.000000	0.85682	D	0.000000	T	0.73869	0.3642	M	0.68952	2.095	0.58432	D	0.999991	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.71606	-0.4542	10	0.49607	T	0.09	-27.3905	10.0561	0.42246	0.861:0.0:0.139:0.0	.	810;810	A8K330;Q8IWA0	.;WDR75_HUMAN	N	810	ENSP00000314193:K810N	ENSP00000314193:K810N	K	+	3	2	WDR75	190048325	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.699000	0.47077	0.402000	0.25451	0.482000	0.46254	AAA	WDR75	-	NULL	ENSG00000115368		0.368	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	-	0.00	36	0	A	NM_032168		190340080	+1	tier1	-	no_errors	ENST00000314761	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	C
WEE2	494551	genome.wustl.edu	37	7	141427048	141427051	+	Intron	DEL	AGAT	AGAT	-			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	AGAT	AGAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:141427048_141427051delAGAT	ENST00000397541.2	+	10	1798				WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|RNU1-82P_ENST00000390851.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TTGAATGGGAAGATTTTTCCCAAT	0.451																																																	0																																										SO:0001627	intron_variant	0			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1393-53AGAT>-	7.37:g.141427048_141427051delAGAT				RNA	DEL	-	NULL	ENST00000397541.2	37	NULL	CCDS43660.1	7																																																																																			WEE2-AS1	-	-	ENSG00000228775		0.451	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE2-AS1	HGNC	protein_coding	OTTHUMT00000349091.1		0.00	91	0	AGAT	NM_001105558		141427051	-1	tier1		no_errors	ENST00000478332	ensembl	human	known	74_37	rna	33.33	58	29	DEL	0.000:0.000:0.000:0.000	-
WHAMMP2	440253	genome.wustl.edu	37	15	28991207	28991207	+	RNA	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr15:28991207T>G	ENST00000512149.2	+	0	0					NR_026589.1				WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 2																		TTGGAAAAACTTAAGCTAATG	0.403																																																	0																																												0			BC035099		15q13.1	2014-03-20	2011-06-24	2011-06-24	ENSG00000248334	ENSG00000248334			32360	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 2 (pseudogene)"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 2 (pseudogene)"""	WHDC1L2, WHAMML2			Standard	NR_026589		Approved		uc010uap.2		OTTHUMG00000176340		15.37:g.28991207T>G				RNA	SNP	-	NULL	ENST00000512149.2	37	NULL		15																																																																																			WHAMMP2	-	-	ENSG00000248334		0.403	WHAMMP2-003	PUTATIVE	basic	processed_transcript	WHAMMP2	HGNC	pseudogene	OTTHUMT00000431783.1	-	0.00	82	0	T	NR_026589		28991207	+1	tier1	-	no_errors	ENST00000508764	ensembl	human	putative	74_37	rna	23.08	70	21	SNP	1.000	G
WNT5A	7474	genome.wustl.edu	37	3	55503953	55503953	+	3'UTR	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:55503953T>C	ENST00000474267.1	-	0	1831				WNT5A_ENST00000264634.4_3'UTR|WNT5A_ENST00000493406.1_5'UTR			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A						activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		attataatattaataataaaC	0.284																																																	0																																										SO:0001624	3_prime_UTR_variant	0			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.*167A>G	3.37:g.55503953T>C			A8K4A4|Q6P278	RNA	SNP	-	NULL	ENST00000474267.1	37	NULL	CCDS46850.1	3																																																																																			WNT5A	-	-	ENSG00000114251		0.284	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	HGNC	protein_coding	OTTHUMT00000350793.3	-	0.00	44	0	T	NM_003392		55503953	-1	tier1	-	no_errors	ENST00000493406	ensembl	human	known	74_37	rna	41.38	17	12	SNP	1.000	C
XDH	7498	genome.wustl.edu	37	2	31567572	31567572	+	Silent	SNP	A	A	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr2:31567572A>G	ENST00000379416.3	-	31	3430	c.3382T>C	c.(3382-3384)Ttg>Ctg	p.L1128L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1128					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GTGGCAGACAAGCTCACTGTG	0.527																																					Colon(66;682 1445 30109 40147)												0													164.0	127.0	139.0					2																	31567572		2203	4300	6503	SO:0001819	synonymous_variant	0			D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.3382T>C	2.37:g.31567572A>G			Q16681|Q16712|Q4PJ16	Silent	SNP	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu	p.L1128	ENST00000379416.3	37	c.3382	CCDS1775.1	2																																																																																			XDH	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH	ENSG00000158125		0.527	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XDH	HGNC	protein_coding	OTTHUMT00000216840.1	-	0.00	90	0	A	NM_000379		31567572	-1	tier1	-	no_errors	ENST00000379416	ensembl	human	known	74_37	silent	44.30	44	35	SNP	1.000	G
XPOT	11260	genome.wustl.edu	37	12	64816998	64816998	+	Missense_Mutation	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr12:64816998G>T	ENST00000332707.5	+	11	1685	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	386					intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATTGACTTACGATGAAGAATA	0.244																																																	0													29.0	33.0	32.0					12																	64816998		2196	4280	6476	SO:0001583	missense	0			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.1156G>T	12.37:g.64816998G>T	ENSP00000327821:p.Asp386Tyr		A6NLH1|O43784|Q8WUG2|Q9BVS7	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.D386Y	ENST00000332707.5	37	c.1156	CCDS31852.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959621	0.74016	.	.	ENSG00000184575	ENST00000332707	T	0.71817	-0.6	4.95	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.82623	0.5077	M	0.70595	2.14	0.80722	D	1	D	0.71674	0.998	D	0.65987	0.94	T	0.82748	-0.0304	9	.	.	.	.	18.5832	0.91180	0.0:0.0:1.0:0.0	.	386	O43592	XPOT_HUMAN	Y	386	ENSP00000327821:D386Y	.	D	+	1	0	XPOT	63103265	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	9.641000	0.98458	2.468000	0.83385	0.650000	0.86243	GAT	XPOT	-	superfamily_ARM-type_fold	ENSG00000184575		0.244	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	-	0.00	66	0	G	NM_007235		64816998	+1	tier1	-	no_errors	ENST00000332707	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
ZC3H3	23144	genome.wustl.edu	37	8	144621396	144621396	+	Silent	SNP	G	G	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144621396G>T	ENST00000262577.5	-	2	172	c.141C>A	c.(139-141)ggC>ggA	p.G47G	RP11-661A12.5_ENST00000530600.1_RNA|7SK_ENST00000517300.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	47					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TAAAGGCTCTGCCACTGTGGT	0.612																																																	0													49.0	47.0	47.0					8																	144621396		2203	4292	6495	SO:0001819	synonymous_variant	0			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.141C>A	8.37:g.144621396G>T			Q14163|Q8N4E2|Q9BUS4	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.G47	ENST00000262577.5	37	c.141	CCDS6402.1	8																																																																																			ZC3H3	-	NULL	ENSG00000014164		0.612	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0.00	85	0	G	NM_015117		144621396	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	silent	5.63	67	4	SNP	0.750	T
ZFP30	22835	genome.wustl.edu	37	19	38126363	38126363	+	Missense_Mutation	SNP	C	C	T	rs145884302	byFrequency	TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:38126363C>T	ENST00000351218.2	-	6	1636	c.1079G>A	c.(1078-1080)gGg>gAg	p.G360E	ZFP30_ENST00000514101.2_Missense_Mutation_p.G360E|ZFP30_ENST00000392144.1_Missense_Mutation_p.G360E|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAGTCTTCCCACATTCCTT	0.433																																																	0													70.0	70.0	70.0					19																	38126363		2203	4300	6503	SO:0001583	missense	0			AB023178	CCDS33005.1	19q13.13	2013-01-08	2012-11-27		ENSG00000120784	ENSG00000120784		"""Zinc fingers, C2H2-type"", ""-"""	29555	protein-coding gene	gene with protein product			"""zinc finger protein 30 homolog (mouse)"""			10231032	Standard	NM_014898		Approved	ZNF745, KIAA0961	uc002ogx.1	Q9Y2G7	OTTHUMG00000048177	ENST00000351218.2:c.1079G>A	19.37:g.38126363C>T	ENSP00000343581:p.Gly360Glu		Q58EY8	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.G360E	ENST00000351218.2	37	c.1079	CCDS33005.1	19	.	.	.	.	.	.	.	.	.	.	C	17.95	3.512636	0.64522	.	.	ENSG00000120784	ENST00000351218;ENST00000514101;ENST00000392144;ENST00000440715	T;T;T	0.07114	3.22;3.22;3.22	3.99	3.99	0.46301	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35585	N	0.003119	T	0.25082	0.0609	L	0.58428	1.81	0.39772	D	0.972178	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02917	-1.1094	10	0.72032	D	0.01	.	15.355	0.74421	0.0:1.0:0.0:0.0	.	360;360	D3Y2A0;Q9Y2G7	.;ZFP30_HUMAN	E	360;360;360;275	ENSP00000343581:G360E;ENSP00000422930:G360E;ENSP00000375988:G360E	ENSP00000343581:G360E	G	-	2	0	ZFP30	42818203	0.976000	0.34144	1.000000	0.80357	0.987000	0.75469	2.266000	0.43320	2.223000	0.72356	0.655000	0.94253	GGG	ZFP30	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000120784		0.433	ZFP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP30	HGNC	protein_coding	OTTHUMT00000109601.2	-	0.00	58	0	C	NM_014898		38126363	-1	tier1	-	no_errors	ENST00000351218	ensembl	human	known	74_37	missense	8.47	54	5	SNP	1.000	T
ZKSCAN7	55888	genome.wustl.edu	37	3	44612745	44612745	+	Missense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr3:44612745G>A	ENST00000273320.3	+	6	2572	c.2143G>A	c.(2143-2145)Gga>Aga	p.G715R	ZKSCAN7_ENST00000431636.1_Intron|ZKSCAN7_ENST00000341840.3_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.G715R|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	715					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)										AGTCCACACCGGAGAGAAACC	0.453																																																	0													113.0	112.0	112.0					3																	44612745		2203	4300	6503	SO:0001583	missense	0			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.2143G>A	3.37:g.44612745G>A	ENSP00000273320:p.Gly715Arg		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G715R	ENST00000273320.3	37	c.2143	CCDS2715.1	3	.	.	.	.	.	.	.	.	.	.	.	20.5	3.999358	0.74818	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000315777	T;T	0.01629	4.72;4.72	4.2	4.2	0.49525	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.32533	N	0.005967	T	0.08670	0.0215	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00456	-1.1728	10	0.66056	D	0.02	-9.1177	9.8708	0.41172	0.0992:0.0:0.9008:0.0	.	715	Q9P0L1	ZN167_HUMAN	R	715;715;153	ENSP00000395524:G715R;ENSP00000273320:G715R	ENSP00000273320:G715R	G	+	1	0	ZNF167	44587749	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.215000	0.72206	2.179000	0.69175	0.655000	0.94253	GGA	ZKSCAN7	-	pfscan_Znf_C2H2	ENSG00000196345		0.453	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN7	HGNC	protein_coding	OTTHUMT00000256752.4	-	0.00	87	0	G	NM_018651		44612745	+1	tier1	-	no_errors	ENST00000273320	ensembl	human	known	74_37	missense	9.33	68	7	SNP	1.000	A
ZNF254	9534	genome.wustl.edu	37	19	24309961	24309961	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:24309961T>G	ENST00000357002.4	+	4	1274	c.1159T>G	c.(1159-1161)Ttt>Gtt	p.F387V	ZNF254_ENST00000342944.6_Missense_Mutation_p.F302V	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	387					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGGCAAAGCTTTTAAGCAACT	0.363																																																	0													41.0	43.0	42.0					19																	24309961		2202	4299	6501	SO:0001583	missense	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1159T>G	19.37:g.24309961T>G	ENSP00000349494:p.Phe387Val		A4QPC0|Q86XL7	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.F387V	ENST00000357002.4	37	c.1159	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	T	10.76	1.441608	0.25900	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.46063	0.88;0.88	1.07	1.07	0.20283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.69851	0.3157	H	0.96142	3.775	0.31563	N	0.657294	D	0.89917	1.0	D	0.97110	1.0	T	0.68861	-0.5297	9	0.87932	D	0	.	5.9621	0.19305	0.0:0.0:0.0:1.0	.	387	O75437	ZN254_HUMAN	V	302;387	ENSP00000445527:F302V;ENSP00000349494:F387V	ENSP00000445527:F302V	F	+	1	0	ZNF254	24101801	0.997000	0.39634	0.673000	0.29887	0.700000	0.40528	5.443000	0.66581	0.441000	0.26529	0.248000	0.18094	TTT	ZNF254	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.363	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1		0.00	35	0	T	NM_004876		24309961	+1			no_errors	ENST00000357002	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.992	G
ZNF263	10127	genome.wustl.edu	37	16	3333830	3333830	+	Silent	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr16:3333830C>T	ENST00000219069.5	+	1	888	c.12C>T	c.(10-12)ggC>ggT	p.G4G	ZNF263_ENST00000574253.1_Silent_p.G4G|ZNF263_ENST00000573578.1_Silent_p.G4G|ZNF263_ENST00000538765.1_Intron	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	4					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TGGCGTCGGGCCCGGGCTCCC	0.687																																																	0													28.0	35.0	33.0					16																	3333830		2195	4299	6494	SO:0001819	synonymous_variant	0			AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.12C>T	16.37:g.3333830C>T			B2R634|O43387|Q96H95	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G4	ENST00000219069.5	37	c.12	CCDS10499.1	16																																																																																			ZNF263	-	NULL	ENSG00000006194		0.687	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF263	HGNC	protein_coding	OTTHUMT00000251463.2	-	0.00	31	0	C			3333830	+1	tier1	-	no_errors	ENST00000219069	ensembl	human	known	74_37	silent	23.81	32	10	SNP	0.000	T
ZNF285	26974	genome.wustl.edu	37	19	44890666	44890666	+	Nonsense_Mutation	SNP	G	G	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:44890666G>A	ENST00000330997.4	-	4	1805	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Nonsense_Mutation_p.Q588*|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.Q581*	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGTAGTCTTTGATGAGTCAGA	0.418																																																	0													140.0	116.0	124.0					19																	44890666		2203	4300	6503	SO:0001587	stop_gained	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1741C>T	19.37:g.44890666G>A	ENSP00000333595:p.Gln581*		Q17RJ3|Q6B0A8|Q6ISR5	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q581*	ENST00000330997.4	37	c.1741	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	G	32	5.114240	0.94339	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.28	1.05	0.20165	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	7.1792	0.25763	0.1024:0.1734:0.7242:0.0	.	.	.	.	X	604;581	.	ENSP00000333595:Q581X	Q	-	1	0	ZNF285	49582506	0.093000	0.21703	0.006000	0.13384	0.218000	0.24690	1.723000	0.38053	0.224000	0.20940	0.454000	0.30748	CAA	ZNF285	-	NULL	ENSG00000267508		0.418	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	-	0.00	92	0	G	NM_152354		44890666	-1	tier1	-	no_errors	ENST00000330997	ensembl	human	known	74_37	nonsense	8.82	62	6	SNP	0.114	A
ZNF285	26974	genome.wustl.edu	37	19	44892266	44892266	+	Splice_Site	SNP	T	T	C	rs200167944		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:44892266T>C	ENST00000330997.4	-	4	207		c.e4-2		CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Splice_Site|ZNF285_ENST00000544719.2_Splice_Site	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCGTCTCCTAGGAGAAGAA	0.413																																																	0													50.0	54.0	53.0					19																	44892266		2173	4283	6456	SO:0001630	splice_region_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.143-2A>G	19.37:g.44892266T>C			Q17RJ3|Q6B0A8|Q6ISR5	Splice_Site	SNP	-	e3-2	ENST00000330997.4	37	c.143-2	CCDS12638.1	19	.	.	.	.	.	.	.	.	.	.	T	9.943	1.218077	0.22373	.	.	ENSG00000062370	ENST00000544719;ENST00000330997	.	.	.	3.86	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3975	0.38412	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF285	49584106	0.507000	0.26146	0.215000	0.23724	0.122000	0.20287	3.134000	0.50538	1.528000	0.49103	0.373000	0.22412	.	ZNF285	-	-	ENSG00000267508		0.413	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1		0.00	10	0	T	NM_152354	Intron	44892266	-1			no_errors	ENST00000330997	ensembl	human	known	74_37	splice_site	30.00	7	3	SNP	0.017	C
ZNF521	25925	genome.wustl.edu	37	18	22806956	22806956	+	Missense_Mutation	SNP	T	T	G			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr18:22806956T>G	ENST00000361524.3	-	4	1074	c.926A>C	c.(925-927)aAg>aCg	p.K309T	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Missense_Mutation_p.K309T|ZNF521_ENST00000584787.1_Missense_Mutation_p.K89T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	309					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GCATGAGTTCTTCTTCTCCCC	0.542			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													122.0	113.0	116.0					18																	22806956		2203	4300	6503	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.926A>C	18.37:g.22806956T>G	ENSP00000354794:p.Lys309Thr		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K309T	ENST00000361524.3	37	c.926	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	T	10.89	1.477353	0.26511	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.27720	1.65;1.65	6.02	6.02	0.97574	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.047970	0.85682	D	0.000000	T	0.32102	0.0818	L	0.33753	1.03	0.44570	D	0.997535	P	0.49783	0.928	P	0.46026	0.501	T	0.04467	-1.0949	10	0.59425	D	0.04	-32.9744	16.5446	0.84426	0.0:0.0:0.0:1.0	.	309	Q96K83	ZN521_HUMAN	T	309;343;309	ENSP00000354794:K309T;ENSP00000382352:K309T	ENSP00000354794:K309T	K	-	2	0	ZNF521	21060954	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.311000	0.77944	0.533000	0.62120	AAG	ZNF521	-	pfscan_Znf_C2H2	ENSG00000198795		0.542	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	-	0.00	79	0	T	NM_015461		22806956	-1	tier1	-	no_errors	ENST00000361524	ensembl	human	known	74_37	missense	9.90	91	10	SNP	1.000	G
ZNF676	163223	genome.wustl.edu	37	19	22375898	22375898	+	Missense_Mutation	SNP	T	T	C	rs377741733		TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:22375898T>C	ENST00000397121.2	-	2	367	c.50A>G	c.(49-51)aAg>aGg	p.K17R		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAGGTCTGGCTTAAAGGCAGC	0.403																																																	0													81.0	98.0	92.0					19																	22375898		1507	2709	4216	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.50A>G	19.37:g.22375898T>C	ENSP00000380310:p.Lys17Arg		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K17R	ENST00000397121.2	37	c.50	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	15.19	2.760516	0.49468	.	.	ENSG00000196109	ENST00000397121	T	0.00902	5.56	0.784	0.784	0.18578	Krueppel-associated box (3);	.	.	.	.	T	0.02571	0.0078	M	0.84219	2.685	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.36040	-0.9764	9	0.66056	D	0.02	.	3.6975	0.08369	0.0:0.0:0.0:1.0	.	17	Q8N7Q3	ZN676_HUMAN	R	17	ENSP00000380310:K17R	ENSP00000380310:K17R	K	-	2	0	ZNF676	22167738	0.003000	0.15002	0.768000	0.31515	0.770000	0.43624	-0.075000	0.11431	0.156000	0.19299	0.155000	0.16302	AAG	ZNF676	-	superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000196109		0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	-	0.00	86	0	T	NM_001001411		22375898	-1	tier1	-	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	37.23	59	35	SNP	0.335	C
ZNF616	90317	genome.wustl.edu	37	19	52619801	52619801	+	Missense_Mutation	SNP	T	T	A			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52619801T>A	ENST00000600228.1	-	4	877	c.616A>T	c.(616-618)Ata>Tta	p.I206L	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GTAGTATGTATCCTCTGATGA	0.403																																																	0													150.0	145.0	146.0					19																	52619801		2203	4300	6503	SO:0001583	missense	0			AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.616A>T	19.37:g.52619801T>A	ENSP00000471000:p.Ile206Leu		B3KRV1|Q0P658|Q658V7	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.I206L	ENST00000600228.1	37	c.616	CCDS33090.1	19	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054693	0.36277	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43700	0.1259	L	0.48986	1.54	0.09310	N	1	P	0.44195	0.828	P	0.53912	0.737	T	0.38802	-0.9644	8	0.59425	D	0.04	.	3.4109	0.07357	0.0:0.2034:0.2208:0.5758	.	206	Q08AN1	ZN616_HUMAN	L	206	.	ENSP00000328722:I206L	I	-	1	0	ZNF616	57311613	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-0.326000	0.07965	-0.845000	0.04179	0.254000	0.18369	ATA	ZNF616	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204611		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF616	HGNC	protein_coding	OTTHUMT00000462451.1	-	0.00	67	0	T	XM_030892		52619801	-1	tier1	-	no_errors	ENST00000600228	ensembl	human	known	74_37	missense	14.71	87	15	SNP	0.001	A
ZNF534	147658	genome.wustl.edu	37	19	52941308	52941308	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:52941308T>C	ENST00000332323.6	+	4	695	c.634T>C	c.(634-636)Tca>Cca	p.S212P	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.S199P	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CAGAGTGTCTTCAAGCCTTAC	0.373																																																	0													108.0	96.0	99.0					19																	52941308		1568	3582	5150	SO:0001583	missense	0			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.634T>C	19.37:g.52941308T>C	ENSP00000327538:p.Ser212Pro		Q76KX9	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.S212P	ENST00000332323.6	37	c.634	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	T	13.05	2.122681	0.37436	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.18657	2.2;2.2	1.81	1.81	0.25067	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.43433	0.1247	M	0.85777	2.775	0.32792	N	0.50107	D;D	0.76494	0.999;0.988	D;P	0.69479	0.964;0.723	T	0.54503	-0.8284	9	0.72032	D	0.01	.	6.0334	0.19692	0.0:0.0:0.2627:0.7373	.	199;212	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	P	212;199;211	ENSP00000327538:S212P;ENSP00000391358:S199P	ENSP00000327538:S212P	S	+	1	0	ZNF534	57633120	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	-1.047000	0.03521	0.811000	0.34303	0.377000	0.23210	TCA	ZNF534	-	pfscan_Znf_C2H2	ENSG00000198633		0.373	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	-	0.00	26	0	T	NM_182512		52941308	+1	tier1	-	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.243	C
ZNF677	342926	genome.wustl.edu	37	19	53741702	53741702	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:53741702T>C	ENST00000598513.1	-	5	428	c.278A>G	c.(277-279)aAt>aGt	p.N93S	ZNF677_ENST00000333952.4_Missense_Mutation_p.N93S|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	93					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GAGGTCAAAATTGTTGATGCC	0.363																																																	0													84.0	79.0	81.0					19																	53741702		2203	4299	6502	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.278A>G	19.37:g.53741702T>C	ENSP00000469391:p.Asn93Ser			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.N93S	ENST00000598513.1	37	c.278	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	5.909	0.351872	0.11182	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07021	3.23	2.2	-3.05	0.05396	.	1.119930	0.07058	N	0.833218	T	0.03011	0.0089	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44513	-0.9323	10	0.13853	T	0.58	.	0.8889	0.01250	0.1678:0.2405:0.3394:0.2523	.	93	Q86XU0	ZN677_HUMAN	S	93	ENSP00000334394:N93S	ENSP00000334394:N93S	N	-	2	0	ZNF677	58433514	0.000000	0.05858	0.008000	0.14137	0.158000	0.22134	0.155000	0.16362	-1.037000	0.03283	-1.039000	0.02377	AAT	ZNF677	-	NULL	ENSG00000197928		0.363	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0.00	59	0	T	NM_182609		53741702	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.001	C
ZNF677	342926	genome.wustl.edu	37	19	53747121	53747121	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr19:53747121T>C	ENST00000598513.1	-	4	195	c.45A>G	c.(43-45)atA>atG	p.I15M	ZNF677_ENST00000599012.1_Missense_Mutation_p.I15M|ZNF677_ENST00000601828.1_Missense_Mutation_p.I15M|ZNF677_ENST00000333952.4_Missense_Mutation_p.I15M|ZNF677_ENST00000594681.1_Missense_Mutation_p.I15M|ZNF677_ENST00000601413.1_Missense_Mutation_p.I15M|CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000598806.1_Missense_Mutation_p.I15M	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	15	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GAGAGAATTCTATGGCCACAT	0.458																																																	0													90.0	85.0	87.0					19																	53747121		2203	4300	6503	SO:0001583	missense	0			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.45A>G	19.37:g.53747121T>C	ENSP00000469391:p.Ile15Met			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.I15M	ENST00000598513.1	37	c.45	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	14.00	2.403688	0.42613	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.01871	4.59	2.02	-4.05	0.03998	Krueppel-associated box (4);	0.000000	0.37955	N	0.001862	T	0.07007	0.0178	M	0.76170	2.325	0.22253	N	0.999256	D	0.69078	0.997	D	0.87578	0.998	T	0.04029	-1.0983	10	0.72032	D	0.01	.	4.2062	0.10490	0.2795:0.0:0.428:0.2925	.	15	Q86XU0	ZN677_HUMAN	M	15	ENSP00000334394:I15M	ENSP00000334394:I15M	I	-	3	3	ZNF677	58438933	0.000000	0.05858	0.935000	0.37517	0.995000	0.86356	-1.720000	0.01871	-1.310000	0.02312	0.459000	0.35465	ATA	ZNF677	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000197928		0.458	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	-	0.00	70	0	T	NM_182609		53747121	-1	tier1	-	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	21.74	54	15	SNP	0.864	C
ZNF707	286075	genome.wustl.edu	37	8	144776365	144776365	+	Missense_Mutation	SNP	T	T	C			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr8:144776365T>C	ENST00000532205.1	+	8	1680	c.781T>C	c.(781-783)Tcg>Ccg	p.S261P	ZNF707_ENST00000358656.4_Missense_Mutation_p.S261P|ZNF707_ENST00000532158.1_Missense_Mutation_p.S261P|ZNF707_ENST00000418203.2_Missense_Mutation_p.S261P|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000454097.1_Missense_Mutation_p.S261P			Q96C28	ZN707_HUMAN	zinc finger protein 707	261					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)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGGCCCTACTCGTGTGGCGA	0.657																																																	0													19.0	23.0	22.0					8																	144776365		2178	4272	6450	SO:0001583	missense	0			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.781T>C	8.37:g.144776365T>C	ENSP00000436212:p.Ser261Pro		A8K317|B3KNY1|D3DWK7	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.S261P	ENST00000532205.1	37	c.781	CCDS47932.1	8	.	.	.	.	.	.	.	.	.	.	T	4.120	0.020408	0.08006	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35	2.99	-5.98	0.02220	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.13003	0.285	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41288	-0.9517	8	.	.	.	0.1864	7.8014	0.29176	0.0:0.4354:0.3933:0.1713	.	186;261	B4DV46;Q96C28	.;ZN707_HUMAN	P	261	ENSP00000409029:S261P;ENSP00000351482:S261P;ENSP00000436250:S261P;ENSP00000436212:S261P;ENSP00000413215:S261P	.	S	+	1	0	ZNF707	144848353	0.000000	0.05858	0.001000	0.08648	0.283000	0.27025	-2.961000	0.00672	-1.012000	0.03387	-0.400000	0.06385	TCG	ZNF707	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000181135		0.657	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	-	0.00	51	0	T	NM_173831		144776365	+1	tier1	-	no_errors	ENST00000358656	ensembl	human	known	74_37	missense	16.28	36	7	SNP	0.001	C
ZNF713	349075	genome.wustl.edu	37	7	56007556	56007556	+	Missense_Mutation	SNP	C	C	T			TCGA-L5-A4OU-01A-11D-A28B-09	TCGA-L5-A4OU-11A-11D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c810202c-4f14-44fd-a6bd-9444a3e129d2	4193b59f-a175-4ab2-844b-1975c5563fbc	g.chr7:56007556C>T	ENST00000429591.2	+	4	1188	c.1150C>T	c.(1150-1152)Ccc>Tcc	p.P384S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AGGAGAGAAACCCTATAAATG	0.408																																																	0													51.0	53.0	53.0					7																	56007556		2203	4300	6503	SO:0001583	missense	0			AK097282	CCDS34639.1	7p11.2	2013-01-08			ENSG00000178665	ENSG00000178665		"""Zinc fingers, C2H2-type"", ""-"""	22043	protein-coding gene	gene with protein product							Standard	NM_182633		Approved	FLJ39963	uc003trc.1	Q8N859	OTTHUMG00000156175	ENST00000429591.2:c.1150C>T	7.37:g.56007556C>T	ENSP00000416662:p.Pro384Ser			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.P384S	ENST00000429591.2	37	c.1150	CCDS34639.1	7	.	.	.	.	.	.	.	.	.	.	C	17.82	3.484016	0.63962	.	.	ENSG00000178665	ENST00000429591	T	0.16743	2.32	3.54	2.66	0.31614	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001465	T	0.39682	0.1087	M	0.80332	2.49	0.40860	D	0.983822	D	0.89917	1.0	D	0.83275	0.996	T	0.35773	-0.9775	10	0.87932	D	0	.	9.1086	0.36714	0.0:0.8878:0.0:0.1122	.	384	Q8N859	ZN713_HUMAN	S	384	ENSP00000416662:P384S	ENSP00000416662:P384S	P	+	1	0	ZNF713	55975050	0.980000	0.34600	0.933000	0.37362	0.982000	0.71751	4.310000	0.59141	1.062000	0.40625	0.467000	0.42956	CCC	ZNF713	-	pfscan_Znf_C2H2	ENSG00000178665		0.408	ZNF713-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF713	HGNC	protein_coding	OTTHUMT00000343297.1	-	0.00	40	0	C	NM_182633		56007556	+1	tier1	-	no_errors	ENST00000429591	ensembl	human	known	74_37	missense	34.69	32	17	SNP	0.997	T
