#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
ACOT6	641372	genome.wustl.edu	37	14	74086064	74086064	+	Missense_Mutation	SNP	G	G	A	rs555036192		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:74086064G>A	ENST00000381139.1	+	2	476	c.145G>A	c.(145-147)Gct>Act	p.A49T	RP3-414A15.10_ENST00000555011.1_RNA|RP3-414A15.10_ENST00000555500.1_RNA	NM_001037162.1	NP_001032239.1	Q3I5F7	ACOT6_HUMAN	acyl-CoA thioesterase 6	49						cytosol (GO:0005829)	carboxylic ester hydrolase activity (GO:0052689)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CAACACAGTAGCTCCTCTACA	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		19774	0.0		0.0	False		,,,				2504	0.001																0													111.0	97.0	102.0					14																	74086064		2203	4300	6503	SO:0001583	missense	0			DQ082756, BF109853	CCDS32118.1	14q24.3	2011-02-16			ENSG00000205669	ENSG00000205669		"""Acyl CoA thioesterases"""	33159	protein-coding gene	gene with protein product		614267	"""chromosome 14 open reading frame 42"""	C14orf42		16940157	Standard	NM_001037162		Approved		uc001xop.3	Q3I5F7		ENST00000381139.1:c.145G>A	14.37:g.74086064G>A	ENSP00000370531:p.Ala49Thr			Missense_Mutation	SNP	pfam_BAAT_C,pfam_Serine_hydrolase_FSH	p.A49T	ENST00000381139.1	37	c.145	CCDS32118.1	14	.	.	.	.	.	.	.	.	.	.	G	0.977	-0.698363	0.03279	.	.	ENSG00000205669	ENST00000554229;ENST00000381139	T;T	0.30448	1.53;1.53	5.93	-0.165	0.13355	BAAT/Acyl-CoA thioester hydrolase C-terminal (1);	0.808013	0.11510	N	0.556783	T	0.18800	0.0451	L	0.33753	1.03	0.09310	N	1	B	0.09022	0.002	B	0.18871	0.023	T	0.36311	-0.9753	10	0.12103	T	0.63	-18.7672	7.0512	0.25073	0.2566:0.0:0.5439:0.1995	.	49	Q3I5F7	ACOT6_HUMAN	T	49	ENSP00000451464:A49T;ENSP00000370531:A49T	ENSP00000370531:A49T	A	+	1	0	ACOT6	73155817	0.000000	0.05858	0.000000	0.03702	0.254000	0.26022	-0.264000	0.08658	-0.148000	0.11234	-0.797000	0.03246	GCT	ACOT6	-	pfam_BAAT_C,pfam_Serine_hydrolase_FSH	ENSG00000205669		0.403	ACOT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT6	HGNC	protein_coding	OTTHUMT00000414437.1		0.00	47	0	G	NM_001037162		74086064	+1			no_errors	ENST00000381139	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.000	A
ACTL8	81569	genome.wustl.edu	37	1	18152456	18152456	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:18152456C>T	ENST00000375406.1	+	3	759	c.543C>T	c.(541-543)tcC>tcT	p.S181S		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	181					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		AGGATCTCTCCGCCTATCTCC	0.592											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													28.0	30.0	29.0					1																	18152456		2203	4300	6503	SO:0001819	synonymous_variant	0			AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.543C>T	1.37:g.18152456C>T		723	Q13104|Q96M75	Silent	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.S181	ENST00000375406.1	37	c.543	CCDS183.1	1																																																																																			ACTL8	-	pfam_Actin-related,smart_Actin-related	ENSG00000117148		0.592	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	HGNC	protein_coding	OTTHUMT00000007143.1		0.00	56	0	C	NM_030812		18152456	+1			no_errors	ENST00000375406	ensembl	human	known	74_37	silent	7.02	53	4	SNP	0.000	T
ACTL9	284382	genome.wustl.edu	37	19	8808930	8808930	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:8808930A>C	ENST00000324436.3	-	1	242	c.122T>G	c.(121-123)gTg>gGg	p.V41G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	41						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCTGTCGGCCACCATGCCGGG	0.652																																																	0													37.0	47.0	44.0					19																	8808930		2198	4295	6493	SO:0001583	missense	0				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.122T>G	19.37:g.8808930A>C	ENSP00000316674:p.Val41Gly		A8K893|Q6X960	Missense_Mutation	SNP	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.V41G	ENST00000324436.3	37	c.122	CCDS12207.1	19	.	.	.	.	.	.	.	.	.	.	A	15.20	2.761815	0.49468	.	.	ENSG00000181786	ENST00000324436	D	0.94758	-3.51	3.12	3.12	0.35913	.	1.221350	0.06314	U	0.703184	D	0.90504	0.7025	L	0.39898	1.24	0.48236	D	0.999617	B	0.31611	0.331	B	0.23150	0.044	D	0.85421	0.1143	10	0.87932	D	0	.	7.9999	0.30291	1.0:0.0:0.0:0.0	.	41	Q8TC94	ACTL9_HUMAN	G	41	ENSP00000316674:V41G	ENSP00000316674:V41G	V	-	2	0	ACTL9	8669930	0.002000	0.14202	0.713000	0.30519	0.107000	0.19398	0.598000	0.24074	1.677000	0.50941	0.379000	0.24179	GTG	ACTL9	-	NULL	ENSG00000181786		0.652	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	-	0.00	114	0	A	NM_178525		8808930	-1	tier1	-	no_errors	ENST00000324436	ensembl	human	known	74_37	missense	6.56	114	8	SNP	0.942	C
ALOX15	246	genome.wustl.edu	37	17	4536468	4536468	+	Missense_Mutation	SNP	G	G	A	rs143347429		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:4536468G>A	ENST00000570836.1	-	11	1487	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	ALOX15_ENST00000574640.1_Missense_Mutation_p.A425V|ALOX15_ENST00000545513.1_Missense_Mutation_p.A486V|ALOX15_ENST00000293761.3_Missense_Mutation_p.A464V			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	464	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A464V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GAGCCGCAGCGCATCTTGGGC	0.597																																																	1	Substitution - Missense(1)	endometrium(1)						G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	48.0	49.0	49.0		1391	3.8	0.7	17	dbSNP_134	49	0,8600		0,0,4300	no	missense	ALOX15	NM_001140.3	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	464/663	4536468	1,13005	2203	4300	6503	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.1391C>T	17.37:g.4536468G>A	ENSP00000458832:p.Ala464Val		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.A486V	ENST00000570836.1	37	c.1457	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	G	16.71	3.199962	0.58126	2.27E-4	0.0	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.79247	-1.25;-1.25	3.79	3.79	0.43588	Lipoxygenase, C-terminal (3);	0.242221	0.33959	N	0.004397	D	0.84687	0.5527	M	0.89601	3.045	0.22666	N	0.998877	D;D;D	0.69078	0.996;0.987;0.997	P;P;P	0.53224	0.489;0.721;0.624	T	0.78339	-0.2242	10	0.62326	D	0.03	-12.7869	9.2788	0.37716	0.0:0.2213:0.7787:0.0	.	486;425;464	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	V	464;486	ENSP00000293761:A464V;ENSP00000439855:A486V	ENSP00000293761:A464V	A	-	2	0	ALOX15	4483217	0.953000	0.32496	0.722000	0.30670	0.735000	0.41995	2.216000	0.42871	1.953000	0.56701	0.491000	0.48974	GCG	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.597	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2		0.00	42	0	G			4536468	-1			no_errors	ENST00000545513	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.479	A
ALOX12	239	genome.wustl.edu	37	17	6904970	6904970	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:6904970C>G	ENST00000251535.6	+	8	1054	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_3'UTR|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	334	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TTCCTGCCCTCAGACCCCCCA	0.507																																																	0													150.0	151.0	150.0					17																	6904970		2203	4300	6503	SO:0001587	stop_gained	0			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1001C>G	17.37:g.6904970C>G	ENSP00000251535:p.Ser334*		O95569|Q6ISF8|Q9UQM4	Nonsense_Mutation	SNP	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C	p.S334*	ENST00000251535.6	37	c.1001	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.363996	0.82353	.	.	ENSG00000108839	ENST00000251535	.	.	.	4.9	4.9	0.64082	.	0.400573	0.22442	N	0.060004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.2981	15.9493	0.79820	0.0:1.0:0.0:0.0	.	.	.	.	X	334	.	ENSP00000251535:S334X	S	+	2	0	ALOX12	6845694	0.008000	0.16893	0.988000	0.46212	0.627000	0.37826	0.377000	0.20552	2.699000	0.92147	0.573000	0.79308	TCA	ALOX12	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000108839		0.507	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	-	0.00	69	0	C			6904970	+1	tier1	-	no_errors	ENST00000251535	ensembl	human	known	74_37	nonsense	30.00	48	21	SNP	0.946	G
ANKHD1	54882	genome.wustl.edu	37	5	139781670	139781670	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:139781670G>T	ENST00000360839.2	+	1	272	c.118G>T	c.(118-120)Ggg>Tgg	p.G40W	CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G40W|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G40W|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G40W|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G40W	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	40	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCGGTCTGGGGATCCGCAC	0.761																																																	0													7.0	11.0	9.0					5																	139781670		2051	4165	6216	SO:0001583	missense	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.118G>T	5.37:g.139781670G>T	ENSP00000354085:p.Gly40Trp		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.G40W	ENST00000360839.2	37	c.118	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245401	0.80024	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.70399	-0.37;-0.42;-0.31;-0.17;-0.48;-0.21;-0.42	5.3	5.3	0.74995	.	0.134041	0.49305	D	0.000152	T	0.75436	0.3849	N	0.24115	0.695	0.51767	D	0.99993	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.996;0.998;0.998	T	0.78380	-0.2226	10	0.87932	D	0	.	15.9934	0.80223	0.0:0.0:1.0:0.0	.	40;40;40;40;40	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	W	40;54;40;40;40;40;40;40;40	ENSP00000354085:G40W;ENSP00000297183:G40W;ENSP00000394489:G40W;ENSP00000378212:G40W;ENSP00000421069:G40W;ENSP00000378211:G40W;ENSP00000432016:G40W	ENSP00000432016:G40W	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139761854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.533000	0.53561	2.763000	0.94921	0.561000	0.74099	GGG	ANKHD1	-	NULL	ENSG00000131503		0.761	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	-	0.00	21	0	G	NM_017747		139781670	+1	tier1	-	no_errors	ENST00000297183	ensembl	human	known	74_37	missense	17.39	19	4	SNP	1.000	T
ANKRD2	26287	genome.wustl.edu	37	10	99338347	99338347	+	Silent	SNP	C	C	T	rs140424419	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:99338347C>T	ENST00000307518.5	+	4	789	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ANKRD2_ENST00000370655.1_Silent_p.A147A|ANKRD2_ENST00000298808.5_Silent_p.A174A|ANKRD2_ENST00000455090.1_Silent_p.A147A			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	174					muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		GGGGGTCAGCCGACACGTGCG	0.622																																																	0								C	,	1,4345		0,1,2172	49.0	38.0	41.0		522,522	-10.3	0.0	10	dbSNP_134	41	3,8541		0,3,4269	no	coding-synonymous,coding-synonymous	ANKRD2	NM_001129981.1,NM_020349.2	,	0,4,6441	TT,TC,CC		0.0351,0.023,0.031	,	174/328,174/361	99338347	4,12886	2173	4272	6445	SO:0001819	synonymous_variant	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.522C>T	10.37:g.99338347C>T			Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	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.A174	ENST00000307518.5	37	c.522	CCDS7466.1	10																																																																																			ANKRD2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165887		0.622	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		-	0.00	40	0	C			99338347	+1	tier1	rs140424419	no_errors	ENST00000307518	ensembl	human	known	74_37	silent	44.44	25	20	SNP	0.003	T
ANKRD20A5P	440482	genome.wustl.edu	37	18	14227755	14227755	+	IGR	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:14227755G>A								RNU6-316P (36950 upstream) : RP11-757O6.1 (16868 downstream)																							CAAGTGGAAAGTCAAGTATGT	0.338																																																	0																																										SO:0001628	intergenic_variant	0																															18.37:g.14227755G>A				RNA	SNP	-	NULL		37	NULL		18																																																																																			ANKRD20A5P	-	-	ENSG00000186481	0	0.338					ANKRD20A5P	HGNC			-	0.00	183	0	G			14227755	+1	tier1	-	no_errors	ENST00000577614	ensembl	human	known	74_37	rna	38.97	130	83	SNP	0.556	A
ANKRD30B	374860	genome.wustl.edu	37	18	14850252	14850252	+	Silent	SNP	C	C	G	rs4090321	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:14850252C>G	ENST00000358984.4	+	35	3258	c.3078C>G	c.(3076-3078)gtC>gtG	p.V1026V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1026										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAAGAAATGTCGATATATTAA	0.284																																																	0													46.0	40.0	42.0					18																	14850252		691	1575	2266	SO:0001819	synonymous_variant	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3078C>G	18.37:g.14850252C>G			B4DGP1|F8WAG3|Q4G175	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V1026	ENST00000358984.4	37	c.3078	CCDS54182.1	18																																																																																			ANKRD30B	-	NULL	ENSG00000180777		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	-	0.00	58	0	C	NM_001145029		14850252	+1	tier1	-	no_errors	ENST00000358984	ensembl	human	known	74_37	silent	22.54	55	16	SNP	0.904	G
APC	324	genome.wustl.edu	37	5	112176831	112176831	+	Missense_Mutation	SNP	C	C	T	rs371686531		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:112176831C>T	ENST00000457016.1	+	16	5920	c.5540C>T	c.(5539-5541)aCg>aTg	p.T1847M	APC_ENST00000257430.4_Missense_Mutation_p.T1847M|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1847M			P25054	APC_HUMAN	adenomatous polyposis coli	1847	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATCATTACACGCCTATTGAA	0.358		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|skin(1)						C	MET/THR,MET/THR,MET/THR	0,4404		0,0,2202	99.0	91.0	93.0		5540,5540,5486	6.1	1.0	5		93	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	81,81,81	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	1847/2844,1847/2844,1829/2826	112176831	1,13003	2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5540C>T	5.37:g.112176831C>T	ENSP00000413133:p.Thr1847Met		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T1847M	ENST00000457016.1	37	c.5540	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	18.94	3.728949	0.69074	0.0	1.16E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	T;T;T	0.77750	-1.12;-1.12;-1.12	6.07	6.07	0.98685	.	0.042710	0.85682	D	0.000000	D	0.87426	0.6174	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84923	0.0855	9	.	.	.	-19.5765	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1849;1847	Q4LE70;P25054	.;APC_HUMAN	M	1847	ENSP00000413133:T1847M;ENSP00000257430:T1847M;ENSP00000427089:T1847M	.	T	+	2	0	APC	112204730	1.000000	0.71417	0.973000	0.42090	0.953000	0.61014	7.270000	0.78493	2.890000	0.99128	0.650000	0.86243	ACG	APC	-	pfam_APC_Cys-rich_rpt	ENSG00000134982		0.358	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	-	0.00	67	0	C	NM_000038		112176831	+1	tier1	-	no_errors	ENST00000257430	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	T
ATP13A3	79572	genome.wustl.edu	37	3	194146182	194146182	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:194146182T>C	ENST00000439040.1	-	30	3993	c.3202A>G	c.(3202-3204)Ata>Gta	p.I1068V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.I1068V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1068						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAATTTTGTATATTATGTTCA	0.358																																																	0													86.0	83.0	84.0					3																	194146182		1816	4075	5891	SO:0001583	missense	0			AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3202A>G	3.37:g.194146182T>C	ENSP00000416508:p.Ile1068Val		Q8NC11|Q96KS1	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase	p.I1068V	ENST00000439040.1	37	c.3202	CCDS43187.1	3	.	.	.	.	.	.	.	.	.	.	T	12.51	1.959657	0.34565	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	D;D	0.88431	-2.38;-2.38	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.80507	0.4636	N	0.20574	0.59	0.58432	D	0.999999	B	0.17038	0.02	B	0.22880	0.042	T	0.74822	-0.3534	10	0.07325	T	0.83	-0.8372	15.6399	0.76989	0.0:0.0:0.0:1.0	.	1068	Q9H7F0	AT133_HUMAN	V	1068	ENSP00000416508:I1068V;ENSP00000256031:I1068V	ENSP00000256031:I1068V	I	-	1	0	ATP13A3	195627471	1.000000	0.71417	0.998000	0.56505	0.794000	0.44872	5.829000	0.69316	2.094000	0.63399	0.482000	0.46254	ATA	ATP13A3	-	tigrfam_ATPase_P-typ_Cation_typ_V	ENSG00000133657		0.358	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP13A3	HGNC	protein_coding	OTTHUMT00000342799.2	-	0.00	47	0	T	NM_024524		194146182	-1	tier1	-	no_errors	ENST00000256031	ensembl	human	known	74_37	missense	26.15	48	17	SNP	1.000	C
ATP5G2	517	genome.wustl.edu	37	12	54063706	54063706	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:54063706G>A	ENST00000549164.1	-	3	253	c.66C>T	c.(64-66)agC>agT	p.S22S	ATP5G2_ENST00000338662.5_Silent_p.S38S|ATP5G2_ENST00000602871.1_Silent_p.S22S|ATP5G2_ENST00000394349.3_Silent_p.S79S|ATP5G2_ENST00000550241.1_5'Flank			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	22					ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						ATAGCGGACGGCTCAGCAGCT	0.542																																																	0													127.0	103.0	111.0					12																	54063706		2203	4300	6503	SO:0001819	synonymous_variant	0			X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.66C>T	12.37:g.54063706G>A			B3KQQ6	Silent	SNP	pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu	p.S79	ENST00000549164.1	37	c.237		12																																																																																			ATP5G2	-	NULL	ENSG00000135390		0.542	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	ATP5G2	HGNC	protein_coding	OTTHUMT00000407403.1	-	0.00	52	0	G	NM_005176		54063706	-1	tier1	-	no_errors	ENST00000394349	ensembl	human	known	74_37	silent	9.30	39	4	SNP	0.997	A
BCAS4	55653	genome.wustl.edu	37	20	49434786	49434786	+	Silent	SNP	C	C	T	rs200095102		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:49434786C>T	ENST00000358791.5	+	2	319	c.219C>T	c.(217-219)ctC>ctT	p.L73L	BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Silent_p.L73L|BCAS4_ENST00000609336.1_Silent_p.L43L|BCAS4_ENST00000371608.2_Silent_p.L73L	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	73						cytoplasm (GO:0005737)				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						GCATGCTCCTCAGGCTGGAAG	0.562											OREG0026033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	,,	0,4406		0,0,2203	75.0	57.0	63.0		219,219,219	-2.4	0.0	20		63	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous,coding-synonymous,coding-synonymous	BCAS4	NM_001010974.1,NM_017843.3,NM_198799.2	,,	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	,,	73/159,73/212,73/204	49434786	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AK000502	CCDS13432.2, CCDS33487.1	20q13	2008-07-03			ENSG00000124243	ENSG00000124243			14367	protein-coding gene	gene with protein product		607471				12378525	Standard	NM_001010974		Approved	FLJ20495, CNOL	uc002xvq.3	Q8TDM0	OTTHUMG00000032735	ENST00000358791.5:c.219C>T	20.37:g.49434786C>T		962	Q5TD52|Q5TD53|Q5TD54|Q5U5K7|Q5XKE8|Q8IXI7|Q8NEZ6|Q8TDL9|Q9NX13|Q9Y511	Silent	SNP	NULL	p.L73	ENST00000358791.5	37	c.219	CCDS33487.1	20	.	.	.	.	.	.	.	.	.	.	C	6.645	0.487505	0.12641	0.0	3.49E-4	ENSG00000124243	ENST00000445038	.	.	.	5.05	-2.44	0.06502	.	.	.	.	.	T	0.23171	0.0560	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	T	0.29852	-0.9998	4	.	.	.	-5.3478	5.3153	0.15852	0.1076:0.2177:0.5231:0.1517	.	.	.	.	L	48	.	.	S	+	2	0	BCAS4	48868193	0.653000	0.27358	0.005000	0.12908	0.847000	0.48162	-0.306000	0.08178	-0.627000	0.05589	-0.321000	0.08615	TCA	BCAS4	-	NULL	ENSG00000124243		0.562	BCAS4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCAS4	HGNC	protein_coding	OTTHUMT00000079700.1	-	0.00	54	0	C	NM_017843		49434786	+1	tier1	rs200095102	no_errors	ENST00000358791	ensembl	human	known	74_37	silent	18.46	53	12	SNP	0.016	T
C9orf135	138255	genome.wustl.edu	37	9	72521031	72521031	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:72521031T>A	ENST00000377197.3	+	6	756	c.669T>A	c.(667-669)agT>agA	p.S223R	C9orf135_ENST00000466872.2_3'UTR|C9orf135_ENST00000527647.1_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	223						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						CCTTGACTAGTGGGCCTATTG	0.333																																																	0													106.0	107.0	107.0					9																	72521031		2203	4300	6503	SO:0001583	missense	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.669T>A	9.37:g.72521031T>A	ENSP00000366402:p.Ser223Arg		A7E2U4|B2RN61	Missense_Mutation	SNP	NULL	p.S223R	ENST00000377197.3	37	c.669	CCDS35041.1	9	.	.	.	.	.	.	.	.	.	.	T	9.039	0.989225	0.18966	.	.	ENSG00000204711	ENST00000377197	.	.	.	5.35	-10.7	0.00240	.	1.510140	0.03739	N	0.254611	T	0.11665	0.0284	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13926	-1.0491	9	0.33141	T	0.24	-3.9401	2.7589	0.05300	0.1924:0.272:0.3912:0.1445	.	223	Q5VTT2	CI135_HUMAN	R	223	.	ENSP00000366402:S223R	S	+	3	2	C9orf135	71710851	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.579000	0.05834	-2.032000	0.00926	-1.070000	0.02257	AGT	C9orf135	-	NULL	ENSG00000204711		0.333	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	-	0.00	86	0	T	NM_001010940		72521031	+1	tier1	-	no_errors	ENST00000377197	ensembl	human	known	74_37	missense	32.91	53	26	SNP	0.000	A
CAMK2A	815	genome.wustl.edu	37	5	149637177	149637177	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:149637177C>T	ENST00000348628.6	-	4	886	c.221G>A	c.(220-222)cGa>cAa	p.R74Q	CAMK2A_ENST00000398376.3_Missense_Mutation_p.R74Q	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	74	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCATGTAGTCGGACTGTGGG	0.627																																																	0													72.0	89.0	84.0					5																	149637177		2048	4202	6250	SO:0001583	missense	0			AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.221G>A	5.37:g.149637177C>T	ENSP00000261793:p.Arg74Gln		Q9UL21|Q9Y2H4|Q9Y352	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.R74Q	ENST00000348628.6	37	c.221	CCDS43386.1	5	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884030	0.91814	.	.	ENSG00000070808	ENST00000348628;ENST00000398376;ENST00000510347	T;T;T	0.26067	1.76;1.76;1.76	5.97	5.97	0.96955	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.24044	0.0582	L	0.41079	1.255	0.80722	D	1	P;P;P	0.50528	0.921;0.851;0.936	B;B;B	0.37451	0.161;0.073;0.25	T	0.01666	-1.1300	10	0.46703	T	0.11	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	74;74;74	Q9UQM7-2;Q9UQM7;A8K161	.;KCC2A_HUMAN;.	Q	74	ENSP00000261793:R74Q;ENSP00000381412:R74Q;ENSP00000426607:R74Q	ENSP00000261793:R74Q	R	-	2	0	CAMK2A	149617370	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.168000	0.77570	2.835000	0.97688	0.591000	0.81541	CGA	CAMK2A	-	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	ENSG00000070808		0.627	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	HGNC	protein_coding	OTTHUMT00000258869.2		0.00	36	0	C	NM_015981		149637177	-1			no_errors	ENST00000398376	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
CAPN14	440854	genome.wustl.edu	37	2	31409352	31409352	+	Splice_Site	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:31409352C>T	ENST00000403897.3	-	16	1729		c.e16-1		CAPN14_ENST00000444918.2_Splice_Site	NM_001145122.1	NP_001138594.1	A8MX76	CAN14_HUMAN	calpain 14						proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)|skin(1)|stomach(2)	7						TCTCTGGATGCTAAATAGAAA	0.423																																																	0													124.0	110.0	115.0					2																	31409352		692	1591	2283	SO:0001630	splice_region_variant	0			AC015980	CCDS46254.1	2p23.1-p21	2013-01-10			ENSG00000214711	ENSG00000214711		"""EF-hand domain containing"""	16664	protein-coding gene	gene with protein product		610229				11675017	Standard	NM_001145122		Approved		uc010yms.2	A8MX76	OTTHUMG00000152039	ENST00000403897.3:c.1588-1G>A	2.37:g.31409352C>T			B3KRU9	Splice_Site	SNP	-	e15-1	ENST00000403897.3	37	c.1588-1	CCDS46254.1	2	.	.	.	.	.	.	.	.	.	.	C	7.884	0.730937	0.15507	.	.	ENSG00000214711	ENST00000444918;ENST00000403897	.	.	.	4.05	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3545	0.74418	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN14	31262856	0.996000	0.38824	0.333000	0.25482	0.007000	0.05969	2.578000	0.46051	1.967000	0.57214	0.655000	0.94253	.	CAPN14	-	-	ENSG00000214711		0.423	CAPN14-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CAPN14	HGNC	protein_coding	OTTHUMT00000325010.1		0.00	86	0	C	NM_001145122	Intron	31409352	-1			no_errors	ENST00000444918	ensembl	human	known	74_37	splice_site	5.13	74	4	SNP	0.894	T
CASP5	838	genome.wustl.edu	37	11	104879616	104879616	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:104879616G>T	ENST00000260315.3	-	2	98	c.99C>A	c.(97-99)caC>caA	p.H33Q	CASP5_ENST00000526056.1_Missense_Mutation_p.H46Q|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393141.2_Missense_Mutation_p.H46Q			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	33					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)			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)		TCTTTAGCATGTGGTTTATCA	0.378																																																	0													156.0	143.0	147.0					11																	104879616		2202	4299	6501	SO:0001583	missense	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.99C>A	11.37:g.104879616G>T	ENSP00000260315:p.His33Gln		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	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.H46Q	ENST00000260315.3	37	c.138	CCDS8328.2	11	.	.	.	.	.	.	.	.	.	.	.	3.249	-0.153663	0.06585	.	.	ENSG00000137757	ENST00000393141;ENST00000260315;ENST00000526056;ENST00000456094	T;T;T;T	0.15372	4.49;4.53;4.49;2.43	0.936	-1.87	0.07737	.	.	.	.	.	T	0.06962	0.0177	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.0;0.002	T	0.31641	-0.9936	9	0.87932	D	0	.	1.8576	0.03182	0.2778:0.0:0.3268:0.3954	.	33;46	P51878;P51878-5	CASP5_HUMAN;.	Q	46;33;46;17	ENSP00000376849:H46Q;ENSP00000260315:H33Q;ENSP00000436877:H46Q;ENSP00000415241:H17Q	ENSP00000260315:H33Q	H	-	3	2	CASP5	104384826	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.934000	0.03733	-1.069000	0.02264	CAC	CASP5	-	NULL	ENSG00000137757		0.378	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2		0.00	95	0	G	NM_004347		104879616	-1			no_errors	ENST00000393141	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.000	T
CCDC130	81576	genome.wustl.edu	37	19	13872353	13872353	+	Intron	SNP	C	C	A	rs114060079		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:13872353C>A	ENST00000586600.1	+	10	1076				CCDC130_ENST00000221554.8_Intron|CCDC130_ENST00000587019.1_3'UTR|MRI1_ENST00000319545.8_5'Flank			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			ccactgtatgccgagtgtcca	0.532																																																	0																																										SO:0001627	intron_variant	0			AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994		ENST00000586600.1:c.574-760C>A	19.37:g.13872353C>A			Q9BQ72	RNA	SNP	-	NULL	ENST00000586600.1	37	NULL	CCDS12296.1	19																																																																																			CCDC130	-	-	ENSG00000104957		0.532	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	CCDC130	HGNC	protein_coding	OTTHUMT00000453216.2	-	0.00	26	0	C	NM_030818		13872353	+1	tier1	-	no_errors	ENST00000587019	ensembl	human	known	74_37	rna	48.15	14	13	SNP	0.064	A
CDK9	1025	genome.wustl.edu	37	9	130548401	130548403	+	5'UTR	DEL	GGC	GGC	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	GGC	GGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:130548401_130548403delGGC	ENST00000373264.4	+	0	74_76				CDK9_ENST00000480353.1_3'UTR|MIR3960_ENST00000583311.1_RNA|CDK9_ENST00000373265.2_In_Frame_Del_p.G112del	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9						cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						agcgactgggggcggcggcggcg	0.695																																																	0																																										SO:0001623	5_prime_UTR_variant	0			L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.-25GGC>-	9.37:g.130548410_130548412delGGC			Q5JU24|Q5JU25|Q5U006|Q96TF1	In_Frame_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G112in_frame_del	ENST00000373264.4	37	c.325_327	CCDS6879.1	9																																																																																			CDK9	-	NULL	ENSG00000136807		0.695	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK9	HGNC	protein_coding	OTTHUMT00000054235.1		0.00	10	0	GGC			130548403	+1	tier1		no_errors	ENST00000373265	ensembl	human	known	74_37	in_frame_del	33.33	4	2	DEL	0.050:0.250:0.237	-
CEL	1056	genome.wustl.edu	37	9	135940034	135940034	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:135940034G>A	ENST00000372080.4	+	3	250	c.234G>A	c.(232-234)ctG>ctA	p.L78L	CEL_ENST00000351304.7_Silent_p.L75L	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	75	Heparin-binding.				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		CAGGGACCCTGAAGGCCAAGA	0.642																																																	0													57.0	66.0	63.0					9																	135940034		2066	4194	6260	SO:0001819	synonymous_variant	0			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.234G>A	9.37:g.135940034G>A			Q16398|Q5T7U7|Q9UCH1|Q9UP41	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.L78	ENST00000372080.4	37	c.234	CCDS43896.1	9																																																																																			CEL	-	pfam_CarbesteraseB	ENSG00000170835		0.642	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	-	0.00	56	0	G			135940034	+1	tier1	-	no_errors	ENST00000372080	ensembl	human	known	74_37	silent	17.07	34	7	SNP	1.000	A
CHD4	1108	genome.wustl.edu	37	12	6682395	6682395	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:6682395C>T	ENST00000357008.2	-	38	5565	c.5402G>A	c.(5401-5403)cGg>cAg	p.R1801Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R1794Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R1826Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R1829Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1801	Required for interaction with PCNT.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.R1801L(1)|p.R1829L(1)		central_nervous_system(2)	2						GTAAGCAGCCCGGCGCAGCTG	0.512																																					Colon(32;586 792 4568 16848 45314)												2	Substitution - Missense(2)	kidney(2)											81.0	82.0	81.0					12																	6682395		2203	4300	6503	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.5402G>A	12.37:g.6682395C>T	ENSP00000349508:p.Arg1801Gln		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1829Q	ENST00000357008.2	37	c.5486	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.846021	0.97016	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94417	-3.42;-3.3;-3.41;-3.31	5.71	5.71	0.89125	CHD, C-terminal 2 (1);	0.000000	0.85682	D	0.000000	D	0.97508	0.9184	M	0.82517	2.595	0.58432	D	0.999999	D;D;D	0.76494	0.999;0.998;0.994	D;D;P	0.79108	0.975;0.992;0.886	D	0.97797	1.0242	10	0.87932	D	0	-5.2311	19.8531	0.96747	0.0:1.0:0.0:0.0	.	1829;1801;1794	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	1826;1794;1829;1801;1775	ENSP00000440392:R1826Q;ENSP00000440542:R1794Q;ENSP00000312419:R1829Q;ENSP00000349508:R1801Q	ENSP00000312419:R1829Q	R	-	2	0	CHD4	6552656	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.792000	0.85828	2.689000	0.91719	0.561000	0.74099	CGG	CHD4	-	pfam_CHD_C2	ENSG00000111642		0.512	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		-	0.00	54	0	C	NM_001273		6682395	-1	tier1	-	no_errors	ENST00000309577	ensembl	human	known	74_37	missense	39.29	34	22	SNP	1.000	T
CHML	1122	genome.wustl.edu	37	1	241797239	241797239	+	Silent	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:241797239A>G	ENST00000366553.1	-	1	1993	c.1830T>C	c.(1828-1830)ccT>ccC	p.P610P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	610					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CTGGATTTGGAGGTGGAGGGC	0.468																																																	0													133.0	134.0	134.0					1																	241797239		2203	4299	6502	SO:0001819	synonymous_variant	0			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1830T>C	1.37:g.241797239A>G			B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.P610	ENST00000366553.1	37	c.1830	CCDS31073.1	1																																																																																			CHML	-	pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort	ENSG00000203668		0.468	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1		0.00	87	0	A	NM_001821		241797239	-1			no_errors	ENST00000366553	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	G
CHPF2	54480	genome.wustl.edu	37	7	150932436	150932436	+	Frame_Shift_Del	DEL	C	C	-	rs146139489	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:150932436delC	ENST00000035307.2	+	2	2079	c.566delC	c.(565-567)gccfs	p.A189fs	CHPF2_ENST00000495645.1_Frame_Shift_Del_p.A181fs	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	189					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TATGTGCAGGCCCCCCGCCTG	0.617																																																	0													90.0	93.0	92.0					7																	150932436		2203	4300	6503	SO:0001589	frameshift_variant	0			AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.566delC	7.37:g.150932436delC	ENSP00000035307:p.Ala189fs		B2DBD8|Q6P2I4|Q6UXD2	Frame_Shift_Del	DEL	pfam_Chond_GalNAc,pfam_Fringe-like	p.R191fs	ENST00000035307.2	37	c.566	CCDS34779.1	7																																																																																			CHPF2	-	pfam_Fringe-like	ENSG00000033100		0.617	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF2	HGNC	protein_coding	OTTHUMT00000348648.2		0.00	35	0	C	NM_019015		150932436	+1	tier1		no_errors	ENST00000035307	ensembl	human	known	74_37	frame_shift_del	5.00	38	2	DEL	1.000	-
CHST8	64377	genome.wustl.edu	37	19	34263467	34263467	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:34263467C>T	ENST00000262622.4	+	4	1532	c.774C>T	c.(772-774)cgC>cgT	p.R258R	CHST8_ENST00000434302.1_Silent_p.R258R|CHST8_ENST00000438847.3_Silent_p.R258R	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	258					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TCTTTGTCCGCGAGCCCTTCG	0.612																																																	0													110.0	102.0	105.0					19																	34263467		2203	4300	6503	SO:0001819	synonymous_variant	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.774C>T	19.37:g.34263467C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.R258	ENST00000262622.4	37	c.774	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.612	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	-	0.00	87	0	C	NM_022467		34263467	+1	tier1	-	no_errors	ENST00000262622	ensembl	human	known	74_37	silent	32.89	50	25	SNP	0.385	T
CLSTN1	22883	genome.wustl.edu	37	1	9789388	9789388	+	3'UTR	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:9789388G>C	ENST00000377298.4	-	0	4916				CLSTN1_ENST00000361311.4_3'UTR|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000377288.3_3'UTR	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGGTTTTAGACCATGACTG	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.*1178C>G	1.37:g.9789388G>C			A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	RNA	SNP	-	NULL	ENST00000377298.4	37	NULL	CCDS30580.1	1																																																																																			CLSTN1	-	-	ENSG00000171603		0.478	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	-	0.00	41	0	G			9789388	-1	tier1	-	no_errors	ENST00000477264	ensembl	human	known	74_37	rna	15.79	32	6	SNP	0.000	C
CLSPN	63967	genome.wustl.edu	37	1	36214021	36214021	+	Silent	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:36214021G>C	ENST00000318121.3	-	13	2514	c.2457C>G	c.(2455-2457)gtC>gtG	p.V819V	CLSPN_ENST00000251195.5_Silent_p.V819V|CLSPN_ENST00000520551.1_Silent_p.V766V|CLSPN_ENST00000373220.3_Silent_p.V755V	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	819					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAGCTGAGCTGACCAAACTGG	0.478																																																	0													130.0	132.0	132.0					1																	36214021		2203	4300	6503	SO:0001819	synonymous_variant	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2457C>G	1.37:g.36214021G>C			A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	NULL	p.V819	ENST00000318121.3	37	c.2457	CCDS396.1	1																																																																																			CLSPN	-	NULL	ENSG00000092853		0.478	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	-	0.00	49	0	G	NM_022111		36214021	-1	tier1	-	no_errors	ENST00000318121	ensembl	human	known	74_37	silent	20.00	36	9	SNP	1.000	C
CPSF3L	54973	genome.wustl.edu	37	1	1249245	1249245	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:1249245G>A	ENST00000435064.1	-	9	906	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CPSF3L_ENST00000545578.1_Missense_Mutation_p.A246V|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A174V|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A177V|CPSF3L_ENST00000450926.2_Missense_Mutation_p.A253V|CPSF3L_ENST00000540437.1_Missense_Mutation_p.A281V|CPSF3L_ENST00000421495.2_Missense_Mutation_p.A17V	NM_001256460.1|NM_017871.5	NP_001243389.1|NP_060341.2	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	275					snRNA processing (GO:0016180)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039)	hydrolase activity (GO:0016787)			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GTAGTGGTTGGCCTTCTCGGT	0.567																																																	0													168.0	137.0	147.0					1																	1249245		2203	4300	6503	SO:0001583	missense	0			AL136813	CCDS21.1, CCDS57959.1, CCDS57960.1, CCDS57961.1, CCDS72678.1	1p36.33	2008-02-05			ENSG00000127054	ENSG00000127054			26052	protein-coding gene	gene with protein product	"""integrator complex subunit 11"""	611354				15684398, 16239144	Standard	NM_001256456		Approved	FLJ20542, RC-68, CPSF73L, INT11, INTS11	uc001aee.2	Q5TA45	OTTHUMG00000003330	ENST00000435064.1:c.824C>T	1.37:g.1249245G>A	ENSP00000413493:p.Ala275Val		A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like	p.A281V	ENST00000435064.1	37	c.842	CCDS21.1	1	.	.	.	.	.	.	.	.	.	.	g	35	5.493466	0.96339	.	.	ENSG00000127054	ENST00000435064;ENST00000411962;ENST00000294579;ENST00000419704;ENST00000540437;ENST00000450926;ENST00000545578;ENST00000434694	T;T;T;T;T;T	0.49432	0.94;0.94;0.94;0.94;0.78;0.94	5.27	5.27	0.74061	Beta-Casp domain (1);	0.054776	0.64402	D	0.000001	T	0.74145	0.3678	M	0.87682	2.9	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.80764	0.985;0.994;0.991;0.99;0.985;0.991	T	0.79492	-0.1781	10	0.87932	D	0	-42.1041	18.8792	0.92350	0.0:0.0:1.0:0.0	.	253;246;177;174;281;275	Q5TA45-3;B4DM87;C9IYS7;Q5TA45-2;G3V1S5;Q5TA45	.;.;.;.;.;INT11_HUMAN	V	275;177;168;174;281;253;246;305	ENSP00000413493:A275V;ENSP00000404886:A174V;ENSP00000445001:A281V;ENSP00000392848:A253V;ENSP00000444672:A246V;ENSP00000411233:A305V	ENSP00000294579:A168V	A	-	2	0	CPSF3L	1239108	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.283000	0.95860	2.454000	0.82982	0.639000	0.83563	GCC	CPSF3L	-	pfam_Beta_Casp	ENSG00000127054		0.567	CPSF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3L	HGNC	protein_coding	OTTHUMT00000009360.2	-	0.00	57	0	G	NM_017871		1249245	-1	tier1	-	no_errors	ENST00000540437	ensembl	human	known	74_37	missense	9.26	49	5	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103471858	103471858	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:103471858A>G	ENST00000370096.3	-	16	2009	c.1697T>C	c.(1696-1698)gTc>gCc	p.V566A	COL11A1_ENST00000358392.2_Missense_Mutation_p.V578A|COL11A1_ENST00000512756.1_Missense_Mutation_p.V450A|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Missense_Mutation_p.V527A	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	566	Collagen-like 2.|Triple-helical 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)		GGGACCCTGGACGCCTCGAGG	0.388																																																	0													47.0	54.0	52.0					1																	103471858		2203	4300	6503	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.1697T>C	1.37:g.103471858A>G	ENSP00000359114:p.Val566Ala		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.V578A	ENST00000370096.3	37	c.1733	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	A	9.693	1.152315	0.21371	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.15	5.31	5.31	0.75309	.	0.224851	0.38959	N	0.001515	T	0.71230	0.3315	N	0.02876	-0.465	0.43868	D	0.996473	B;B;B;B	0.20164	0.042;0.034;0.034;0.042	B;B;B;B	0.25614	0.062;0.037;0.037;0.062	T	0.70077	-0.4971	10	0.05620	T	0.96	.	15.2753	0.73737	1.0:0.0:0.0:0.0	.	450;527;578;566	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	566;578;527;450	ENSP00000359114:V566A;ENSP00000351163:V578A;ENSP00000302551:V527A;ENSP00000426533:V450A	ENSP00000302551:V527A	V	-	2	0	COL11A1	103244446	0.988000	0.35896	1.000000	0.80357	0.972000	0.66771	4.357000	0.59436	2.010000	0.58986	0.460000	0.39030	GTC	COL11A1	-	pfam_Collagen	ENSG00000060718		0.388	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	-	0.00	65	0	A	NM_080630		103471858	-1	tier1	-	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	29.63	38	16	SNP	0.999	G
CPT1B	1375	genome.wustl.edu	37	22	51010650	51010650	+	Silent	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr22:51010650G>T	ENST00000360719.2	-	12	1577	c.1440C>A	c.(1438-1440)atC>atA	p.I480I	CPT1B_ENST00000440709.1_Silent_p.I399I|CPT1B_ENST00000312108.7_Silent_p.I480I|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.I277I|CPT1B_ENST00000457250.1_Silent_p.I446I|CPT1B_ENST00000395650.2_Silent_p.I480I|CPT1B_ENST00000405237.3_Silent_p.I480I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	480					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GGTGCCCAATGATGGGAGCAT	0.547																																					Esophageal Squamous(170;988 1933 25577 30295 48163)												0													71.0	66.0	68.0					22																	51010650		2203	4299	6502	SO:0001819	synonymous_variant	0			U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1440C>A	22.37:g.51010650G>T			B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	pfam_Carn_acyl_trans	p.I480	ENST00000360719.2	37	c.1440	CCDS14098.1	22																																																																																			CPT1B	-	pfam_Carn_acyl_trans	ENSG00000205560		0.547	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CPT1B	HGNC	protein_coding	OTTHUMT00000317264.5	-	0.00	53	0	G	NM_152246		51010650	-1	tier1	-	no_errors	ENST00000312108	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.999	T
CSE1L	1434	genome.wustl.edu	37	20	47682961	47682961	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:47682961G>T	ENST00000262982.2	+	5	513	c.390G>T	c.(388-390)ttG>ttT	p.L130F	CSE1L_ENST00000396192.3_Missense_Mutation_p.L130F|CSE1L_ENST00000542325.1_Intron	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	130					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GGCCTGACTTGCTGACAGAAA	0.378																																																	0													130.0	126.0	128.0					20																	47682961		2203	4300	6503	SO:0001583	missense	0			U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.390G>T	20.37:g.47682961G>T	ENSP00000262982:p.Leu130Phe		A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Missense_Mutation	SNP	pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.L130F	ENST00000262982.2	37	c.390	CCDS13412.1	20	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274362	0.59649	.	.	ENSG00000124207	ENST00000262982;ENST00000396192	T;T	0.72167	-0.63;-0.63	5.57	0.979	0.19745	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.974;0.989	T	0.78252	-0.2276	10	0.51188	T	0.08	-8.8343	5.5365	0.17013	0.3505:0.2401:0.4095:0.0	.	130;130	F8W904;P55060	.;XPO2_HUMAN	F	130	ENSP00000262982:L130F;ENSP00000379495:L130F	ENSP00000262982:L130F	L	+	3	2	CSE1L	47116368	0.085000	0.21516	0.998000	0.56505	0.949000	0.60115	-0.182000	0.09726	0.310000	0.22990	-0.259000	0.10710	TTG	CSE1L	-	superfamily_ARM-type_fold	ENSG00000124207		0.378	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSE1L	HGNC	protein_coding	OTTHUMT00000080345.2		0.00	58	0	G	NM_001316		47682961	+1			no_errors	ENST00000262982	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.894	T
CYP24A1	1591	genome.wustl.edu	37	20	52782302	52782302	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:52782302G>T	ENST00000216862.3	-	5	1104	c.711C>A	c.(709-711)aaC>aaA	p.N237K	CYP24A1_ENST00000395954.3_Missense_Mutation_p.N95K|CYP24A1_ENST00000395955.3_Missense_Mutation_p.N237K	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	237					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCATGATGAAGTTCACAGCTT	0.388																																																	0													130.0	116.0	121.0					20																	52782302		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.711C>A	20.37:g.52782302G>T	ENSP00000216862:p.Asn237Lys		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.N237K	ENST00000216862.3	37	c.711	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151592	0.38021	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.65732	-0.17;-0.17;-0.17	5.37	4.42	0.53409	.	0.349888	0.32401	N	0.006149	T	0.39172	0.1068	N	0.11673	0.155	0.42398	D	0.99255	P;P;P	0.42161	0.772;0.601;0.459	B;B;B	0.43575	0.424;0.345;0.345	T	0.44360	-0.9333	10	0.05436	T	0.98	-0.6024	9.0009	0.36081	0.2322:0.0:0.7678:0.0	.	237;237;95	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	K	237;237;95	ENSP00000216862:N237K;ENSP00000379285:N237K;ENSP00000379284:N95K	ENSP00000216862:N237K	N	-	3	2	CYP24A1	52215709	1.000000	0.71417	1.000000	0.80357	0.509000	0.34042	2.620000	0.46410	1.395000	0.46643	0.557000	0.71058	AAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000019186		0.388	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	-	0.00	69	0	G			52782302	-1	tier1	-	no_errors	ENST00000216862	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	T
CYP2C18	1562	genome.wustl.edu	37	10	96495128	96495128	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:96495128T>A	ENST00000285979.6	+	9	1599	c.1400T>A	c.(1399-1401)aTt>aAt	p.I467N	CYP2C19_ENST00000464755.1_Intron|CYP2C18_ENST00000339022.5_Missense_Mutation_p.I408N	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	467					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	CCAAAGGATATTGACATCACC	0.493																																																	0													212.0	194.0	200.0					10																	96495128		2203	4300	6503	SO:0001583	missense	0			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.1400T>A	10.37:g.96495128T>A	ENSP00000285979:p.Ile467Asn		B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I467N	ENST00000285979.6	37	c.1400	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	t	14.39	2.520414	0.44866	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69806	-0.43;-0.43	4.05	4.05	0.47172	.	0.244693	0.30791	U	0.008879	T	0.79540	0.4463	M	0.87547	2.89	0.23056	N	0.998365	D;P	0.64830	0.994;0.834	D;P	0.65874	0.939;0.846	T	0.71041	-0.4707	10	0.87932	D	0	.	6.0553	0.19809	0.0:0.1149:0.0:0.8851	.	408;467	Q4VAT5;P33260	.;CP2CI_HUMAN	N	408;467	ENSP00000341293:I408N;ENSP00000285979:I467N	ENSP00000285979:I467N	I	+	2	0	CYP2C18	96485118	0.009000	0.17119	0.003000	0.11579	0.022000	0.10575	1.749000	0.38319	1.686000	0.51046	0.369000	0.22263	ATT	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000108242		0.493	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	-	0.00	84	0	T	NM_000772		96495128	+1	tier1	-	no_errors	ENST00000285979	ensembl	human	known	74_37	missense	22.12	81	23	SNP	0.006	A
CYP2U1	113612	genome.wustl.edu	37	4	108866175	108866175	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:108866175C>T	ENST00000332884.6	+	2	815	c.540C>T	c.(538-540)ttC>ttT	p.F180F	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_5'UTR	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	180					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		AAAGGAAGTTCTCTCATTCAA	0.423																																																	0													140.0	135.0	136.0					4																	108866175		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.540C>T	4.37:g.108866175C>T			B2RMV7|Q96EQ6	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.F180	ENST00000332884.6	37	c.540	CCDS34047.1	4																																																																																			CYP2U1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000155016		0.423	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	-	0.00	84	0	C	NM_183075		108866175	+1	tier1	-	no_errors	ENST00000332884	ensembl	human	known	74_37	silent	23.33	46	14	SNP	1.000	T
CYP3A5	1577	genome.wustl.edu	37	7	99273820	99273820	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:99273820C>T	ENST00000222982.4	-	2	182	c.83G>A	c.(82-84)cGt>cAt	p.R28H	CYP3A5_ENST00000480723.1_5'UTR|CYP3A5_ENST00000343703.5_Missense_Mutation_p.R18H|CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000439761.1_Missense_Mutation_p.R28H	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	28			R -> C (in allele CYP3A5*8; dbSNP:rs55817950). {ECO:0000269|PubMed:12893984}.		alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCCATGTGTACGGGTCCCATA	0.463																																																	0													104.0	95.0	98.0					7																	99273820		2203	4300	6503	SO:0001583	missense	0			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.83G>A	7.37:g.99273820C>T	ENSP00000222982:p.Arg28His		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.R28H	ENST00000222982.4	37	c.83	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	C	6.928	0.540998	0.13250	.	.	ENSG00000106258	ENST00000222982;ENST00000343703;ENST00000439761	T;T;T	0.04015	3.73;3.73;3.73	3.78	-4.55	0.03441	.	0.737834	0.13379	N	0.392308	T	0.01765	0.0056	N	0.04018	-0.295	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.43245	-0.9403	10	0.27082	T	0.32	.	5.4103	0.16344	0.0:0.4293:0.3522:0.2185	.	18;28;28	F5H4S0;B7Z5I7;P20815	.;.;CP3A5_HUMAN	H	28;18;28	ENSP00000222982:R28H;ENSP00000342969:R18H;ENSP00000401269:R28H	ENSP00000222982:R28H	R	-	2	0	CYP3A5	99111756	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.500000	0.06405	-0.715000	0.04968	-0.391000	0.06502	CGT	CYP3A5	-	NULL	ENSG00000106258		0.463	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1		0.00	78	0	C			99273820	-1			no_errors	ENST00000222982	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.000	T
DDX51	317781	genome.wustl.edu	37	12	132625264	132625264	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:132625264C>T	ENST00000397333.3	-	10	1495	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	486					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GCTGAGGCTGCAGGGCACGTA	0.637																																																	0													59.0	69.0	65.0					12																	132625264		2075	4207	6282	SO:0001583	missense	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.1457G>A	12.37:g.132625264C>T	ENSP00000380495:p.Cys486Tyr		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.C486Y	ENST00000397333.3	37	c.1457	CCDS41865.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943215	0.73672	.	.	ENSG00000185163	ENST00000397333	T	0.04654	3.58	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.20047	0.0482	M	0.87617	2.895	0.80722	D	1	P	0.47484	0.896	P	0.53490	0.727	T	0.00992	-1.1488	10	0.72032	D	0.01	-21.7462	15.8652	0.79060	0.0:1.0:0.0:0.0	.	486	Q8N8A6	DDX51_HUMAN	Y	486	ENSP00000380495:C486Y	ENSP00000380495:C486Y	C	-	2	0	DDX51	131191217	1.000000	0.71417	0.999000	0.59377	0.521000	0.34408	6.932000	0.75869	2.333000	0.79357	0.467000	0.42956	TGC	DDX51	-	superfamily_P-loop_NTPase	ENSG00000185163		0.637	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1		0.00	91	0	C	NM_175066		132625264	-1			no_errors	ENST00000397333	ensembl	human	known	74_37	missense	5.48	69	4	SNP	1.000	T
DENND6A	201627	genome.wustl.edu	37	3	57647252	57647252	+	Silent	SNP	A	A	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:57647252A>T	ENST00000311128.5	-	6	610	c.540T>A	c.(538-540)ccT>ccA	p.P180P		NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	180					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AATGAATATAAGGTAGTTTGC	0.303																																																	0													45.0	48.0	47.0					3																	57647252		2202	4296	6498	SO:0001819	synonymous_variant	0			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.540T>A	3.37:g.57647252A>T			Q7Z5T4|Q8N235|Q8TEG8	Silent	SNP	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	p.P180	ENST00000311128.5	37	c.540	CCDS33773.1	3																																																																																			DENND6A	-	pfam_Afi1_N,pfam_ABL9/DENND6_dom,pfam_DENN_dom	ENSG00000174839		0.303	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1		0.00	49	0	A	NM_152678		57647252	-1			no_errors	ENST00000311128	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.815	T
DGKA	1606	genome.wustl.edu	37	12	56334726	56334726	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:56334726A>G	ENST00000331886.5	+	13	1517	c.1063A>G	c.(1063-1065)Atg>Gtg	p.M355V	DGKA_ENST00000394147.1_Missense_Mutation_p.M355V|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.M355V	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	355					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCAGAAGACCATGGATGATTT	0.498											OREG0021913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													66.0	65.0	65.0					12																	56334726		2203	4300	6503	SO:0001583	missense	0			AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1063A>G	12.37:g.56334726A>G	ENSP00000328405:p.Met355Val	1014	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.M355V	ENST00000331886.5	37	c.1063	CCDS8896.1	12	.	.	.	.	.	.	.	.	.	.	A	8.978	0.974566	0.18736	.	.	ENSG00000065357	ENST00000331886;ENST00000555218;ENST00000394147;ENST00000551156	D;D;D;D	0.86230	-1.87;-2.09;-1.87;-1.87	5.34	-10.7	0.00240	.	2.549290	0.00855	N	0.001871	T	0.71508	0.3348	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.60063	-0.7336	10	0.30078	T	0.28	.	6.8302	0.23905	0.2231:0.0:0.3997:0.3772	.	274;355	G3V4E1;P23743	.;DGKA_HUMAN	V	355;274;355;355	ENSP00000328405:M355V;ENSP00000451743:M274V;ENSP00000377703:M355V;ENSP00000450359:M355V	ENSP00000328405:M355V	M	+	1	0	DGKA	54620993	0.000000	0.05858	0.000000	0.03702	0.147000	0.21601	-1.742000	0.01835	-2.370000	0.00602	-0.336000	0.08194	ATG	DGKA	-	NULL	ENSG00000065357		0.498	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKA	HGNC	protein_coding	OTTHUMT00000407291.1	-	0.00	48	0	A			56334726	+1	tier1	-	no_errors	ENST00000331886	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.000	G
DIS3L	115752	genome.wustl.edu	37	15	66610849	66610849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:66610849G>T	ENST00000319212.4	+	8	1107	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	DIS3L_ENST00000319194.5_Nonsense_Mutation_p.E270*|DIS3L_ENST00000441424.2_Intron|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	353					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)	p.E353Q(1)|p.E270Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCGTCCAAAGAAGAGGTCCA	0.433																																																	2	Substitution - Missense(2)	lung(2)											126.0	124.0	124.0					15																	66610849		2201	4299	6500	SO:0001587	stop_gained	0				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1057G>T	15.37:g.66610849G>T	ENSP00000321711:p.Glu353*		Q8N1N8|Q8WTU9|Q96CM7	Nonsense_Mutation	SNP	NULL	p.E353*	ENST00000319212.4	37	c.1057	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	G	36	5.816081	0.96982	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	.	.	.	4.28	3.33	0.38152	.	0.578800	0.18822	N	0.130215	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-32.9815	12.7488	0.57296	0.0:0.0:0.8346:0.1654	.	.	.	.	X	270;353	.	ENSP00000321583:E270X	E	+	1	0	DIS3L	64397903	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	9.119000	0.94362	1.093000	0.41377	0.591000	0.81541	GAA	DIS3L	-	NULL	ENSG00000166938		0.433	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	-	0.00	86	0	G	NM_133375		66610849	+1	tier1	-	no_errors	ENST00000319212	ensembl	human	known	74_37	nonsense	37.50	55	33	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	21033361	21033361	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:21033361T>A	ENST00000261383.3	-	40	5707	c.5708A>T	c.(5707-5709)aAa>aTa	p.K1903I	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1903	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAACAAATTTACAATGAAG	0.463																																																	0													130.0	105.0	114.0					16																	21033361		2201	4300	6501	SO:0001583	missense	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5708A>T	16.37:g.21033361T>A	ENSP00000261383:p.Lys1903Ile		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.K1903I	ENST00000261383.3	37	c.5708	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	T	17.28	3.350539	0.61183	.	.	ENSG00000158486	ENST00000261383	T	0.32753	1.44	4.92	2.36	0.29203	.	0.243779	0.36101	N	0.002787	T	0.39545	0.1082	M	0.89353	3.025	0.80722	D	1	P	0.44309	0.832	B	0.41988	0.372	T	0.35276	-0.9795	10	0.66056	D	0.02	.	8.4902	0.33095	0.0:0.2525:0.0:0.7475	.	1903	Q8TD57	DYH3_HUMAN	I	1903	ENSP00000261383:K1903I	ENSP00000261383:K1903I	K	-	2	0	DNAH3	20940862	1.000000	0.71417	0.999000	0.59377	0.895000	0.52256	0.908000	0.28545	0.141000	0.18875	0.379000	0.24179	AAA	DNAH3	-	NULL	ENSG00000158486		0.463	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	-	0.00	26	0	T	NM_017539		21033361	-1	tier1	-	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	20.00	28	7	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13737400	13737400	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:13737400C>G	ENST00000265104.4	-	66	11520	c.11416G>C	c.(11416-11418)Gaa>Caa	p.E3806Q		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3806					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTTGAACTTCTGTCTCAGCA	0.438									Kartagener syndrome																																								0													142.0	143.0	143.0					5																	13737400		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11416G>C	5.37:g.13737400C>G	ENSP00000265104:p.Glu3806Gln		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3806Q	ENST00000265104.4	37	c.11416	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	21.8	4.196220	0.78902	.	.	ENSG00000039139	ENST00000265104	T	0.54279	0.58	5.44	5.44	0.79542	.	0.052984	0.64402	D	0.000001	T	0.66489	0.2794	M	0.84511	2.7	0.80722	D	1	P	0.42584	0.784	P	0.44946	0.465	T	0.72704	-0.4213	10	0.62326	D	0.03	.	19.2675	0.93996	0.0:1.0:0.0:0.0	.	3806	Q8TE73	DYH5_HUMAN	Q	3806	ENSP00000265104:E3806Q	ENSP00000265104:E3806Q	E	-	1	0	DNAH5	13790400	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.995000	0.70631	2.573000	0.86826	0.655000	0.94253	GAA	DNAH5	-	NULL	ENSG00000039139		0.438	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2		0.00	56	0	C	NM_001369		13737400	-1			no_errors	ENST00000265104	ensembl	human	known	74_37	missense	6.00	47	3	SNP	1.000	G
DNAH8	1769	genome.wustl.edu	37	6	38828241	38828241	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:38828241G>T	ENST00000359357.3	+	41	5570	c.5316G>T	c.(5314-5316)atG>atT	p.M1772I	DNAH8_ENST00000441566.1_Missense_Mutation_p.M1772I|DNAH8_ENST00000449981.2_Missense_Mutation_p.M1989I			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1772					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGTAAAAATGCATATCAAAT	0.279																																																	0													40.0	43.0	42.0					6																	38828241		2198	4298	6496	SO:0001583	missense	0			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5316G>T	6.37:g.38828241G>T	ENSP00000352312:p.Met1772Ile		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.M1772I	ENST00000359357.3	37	c.5316		6	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940933	0.73557	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.25085	1.87;1.86;1.82	5.4	5.4	0.78164	.	0.041566	0.85682	D	0.000000	T	0.20251	0.0487	M	0.67953	2.075	0.58432	D	0.999999	P	0.37548	0.599	B	0.35607	0.206	T	0.02975	-1.1087	10	0.36615	T	0.2	.	19.177	0.93605	0.0:0.0:1.0:0.0	.	1772	Q96JB1	DYH8_HUMAN	I	1977;1977;1772;1772	ENSP00000333363:M1977I;ENSP00000352312:M1772I;ENSP00000402294:M1772I	ENSP00000333363:M1977I	M	+	3	0	DNAH8	38936219	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.414000	0.66405	2.525000	0.85131	0.650000	0.86243	ATG	DNAH8	-	NULL	ENSG00000124721		0.279	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	-	0.00	54	0	G	NM_001206927		38828241	+1	tier1	-	no_errors	ENST00000359357	ensembl	human	known	74_37	missense	43.86	32	25	SNP	1.000	T
DPEP1	1800	genome.wustl.edu	37	16	89704484	89704484	+	Missense_Mutation	SNP	G	G	A	rs147872447		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:89704484G>A	ENST00000393092.3	+	11	1381	c.1090G>A	c.(1090-1092)Gag>Aag	p.E364K	DPEP1_ENST00000421184.1_Missense_Mutation_p.E364K|DPEP1_ENST00000261615.4_Missense_Mutation_p.E364K	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	364					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	ACAGGCTCCCGAGGAGGAGCC	0.682																																																	0									LYS/GLU,LYS/GLU	1,4373	2.1+/-5.4	0,1,2186	36.0	41.0	39.0		1090,1090	4.3	0.2	16	dbSNP_134	39	2,8584	2.2+/-6.3	0,2,4291	no	missense,missense	DPEP1	NM_001128141.1,NM_004413.3	56,56	0,3,6477	AA,AG,GG		0.0233,0.0229,0.0231	benign,benign	364/412,364/412	89704484	3,12957	2187	4293	6480	SO:0001583	missense	0				CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1090G>A	16.37:g.89704484G>A	ENSP00000376807:p.Glu364Lys		D3DX80|Q96AK2	Missense_Mutation	SNP	pfam_Peptidase_M19	p.E364K	ENST00000393092.3	37	c.1090	CCDS10982.1	16	.	.	.	.	.	.	.	.	.	.	g	9.645	1.140025	0.21205	2.29E-4	2.33E-4	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.21734	1.99;1.99;1.99	5.31	4.27	0.50696	.	0.278836	0.39544	N	0.001322	T	0.22085	0.0532	M	0.73962	2.25	0.09310	N	1	B	0.30281	0.275	B	0.17722	0.019	T	0.11251	-1.0595	10	0.28530	T	0.3	-0.7199	11.9118	0.52743	0.0:0.0:0.8143:0.1857	.	364	P16444	DPEP1_HUMAN	K	364	ENSP00000397313:E364K;ENSP00000376807:E364K;ENSP00000261615:E364K	ENSP00000261615:E364K	E	+	1	0	DPEP1	88231985	0.983000	0.35010	0.176000	0.23000	0.650000	0.38633	2.326000	0.43849	2.483000	0.83821	0.556000	0.70494	GAG	DPEP1	-	NULL	ENSG00000015413		0.682	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPEP1	HGNC	protein_coding	OTTHUMT00000423058.1	-	0.00	91	0	G	NM_001128141		89704484	+1	tier1	rs147872447	no_errors	ENST00000261615	ensembl	human	known	74_37	missense	10.11	80	9	SNP	0.012	A
DRGX	644168	genome.wustl.edu	37	10	50598228	50598228	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:50598228G>C	ENST00000374139.2	-	3	195	c.185C>G	c.(184-186)aCc>aGc	p.T62S	DRGX_ENST00000434016.1_Missense_Mutation_p.T67S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	62					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CTCTTCTCTGGTGAAGACATC	0.418																																																	0													79.0	74.0	76.0					10																	50598228		1858	4094	5952	SO:0001583	missense	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.185C>G	10.37:g.50598228G>C	ENSP00000363254:p.Thr62Ser			Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.T67S	ENST00000374139.2	37	c.200		10	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687765	0.29962	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.95756	-3.8;-3.8	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.96062	0.8717	L	0.46157	1.445	0.80722	D	1	D	0.58620	0.983	P	0.58077	0.832	D	0.94732	0.7910	10	0.30854	T	0.27	.	19.6204	0.95653	0.0:0.0:1.0:0.0	.	67	C9JW76	.	S	62;67	ENSP00000363254:T62S;ENSP00000401653:T67S	ENSP00000363254:T62S	T	-	2	0	DRGX	50268234	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.476000	0.97823	2.636000	0.89361	0.655000	0.94253	ACC	DRGX	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000165606		0.418	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0.00	71	0	G	XM_060970		50598228	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	missense	33.33	24	12	SNP	1.000	C
DRP2	1821	genome.wustl.edu	37	X	100497358	100497358	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:100497358G>T	ENST00000395209.3	+	8	1400	c.873G>T	c.(871-873)ttG>ttT	p.L291F	DRP2_ENST00000541709.1_Missense_Mutation_p.L213F|DRP2_ENST00000402866.1_Missense_Mutation_p.L291F|DRP2_ENST00000538510.1_Missense_Mutation_p.L291F	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	291					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GAGTAAAGTTGGTGAATGATC	0.473																																																	0													194.0	182.0	186.0					X																	100497358		2203	4300	6503	SO:0001583	missense	0			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.873G>T	X.37:g.100497358G>T	ENSP00000378635:p.Leu291Phe		A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ	p.L291F	ENST00000395209.3	37	c.873	CCDS14480.2	X	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466763	0.43839	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.29	1.47	0.22746	.	0.152355	0.44688	D	0.000423	T	0.40570	0.1122	L	0.44542	1.39	0.38876	D	0.956792	P	0.41393	0.748	P	0.46885	0.53	T	0.25606	-1.0127	10	0.10111	T	0.7	-6.6521	9.2683	0.37654	0.3088:0.0:0.6912:0.0	.	291	Q13474	DRP2_HUMAN	F	291;291;213;291	ENSP00000385038:L291F;ENSP00000378635:L291F;ENSP00000444752:L213F;ENSP00000441051:L291F	ENSP00000362007:L291F	L	+	3	2	DRP2	100384014	1.000000	0.71417	0.946000	0.38457	0.974000	0.67602	0.976000	0.29462	-0.136000	0.11475	0.594000	0.82650	TTG	DRP2	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin-related_2	ENSG00000102385		0.473	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRP2	HGNC	protein_coding	OTTHUMT00000057522.3		0.00	34	0	G	NM_001939		100497358	+1			no_errors	ENST00000395209	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.998	T
DYNC1H1	1778	genome.wustl.edu	37	14	102486374	102486374	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:102486374C>T	ENST00000360184.4	+	42	8652	c.8488C>T	c.(8488-8490)Ctg>Ttg	p.L2830L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2830					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						ACATGAAGCTCTGCGTCTCTT	0.542																																																	0													90.0	78.0	82.0					14																	102486374		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.8488C>T	14.37:g.102486374C>T			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.L2830	ENST00000360184.4	37	c.8488	CCDS9966.1	14																																																																																			DYNC1H1	-	superfamily_P-loop_NTPase	ENSG00000197102		0.542	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	77	0	C	NM_001376		102486374	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	25.88	63	22	SNP	1.000	T
EBF1	1879	genome.wustl.edu	37	5	158140134	158140134	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:158140134C>T	ENST00000313708.6	-	13	1495	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	EBF1_ENST00000517373.1_Missense_Mutation_p.A397T|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Missense_Mutation_p.A374T	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	405					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCAATGTCGGCCGCTCTCTTC	0.532			T	HMGA2	lipoma																																			Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													82.0	69.0	74.0					5																	158140134		2203	4300	6503	SO:0001583	missense	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1213G>A	5.37:g.158140134C>T	ENSP00000322898:p.Ala405Thr		Q8IW11	Missense_Mutation	SNP	pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT	p.A405T	ENST00000313708.6	37	c.1213	CCDS4343.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.362499	0.95877	.	.	ENSG00000164330	ENST00000318060;ENST00000313708;ENST00000380654;ENST00000517373	T;T;T	0.46063	0.88;0.88;0.88	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.66096	0.2755	M	0.81497	2.545	0.80722	D	1	B;D;D;P	0.63880	0.147;0.993;0.984;0.524	B;P;P;B	0.62491	0.006;0.903;0.561;0.077	T	0.62784	-0.6781	10	0.35671	T	0.21	-4.0122	20.2985	0.98592	0.0:1.0:0.0:0.0	.	405;392;405;374	A8K0Z7;B4E2U8;Q9UH73;Q9UH73-2	.;.;COE1_HUMAN;.	T	405;405;374;397	ENSP00000322898:A405T;ENSP00000370029:A374T;ENSP00000428020:A397T	ENSP00000322898:A405T	A	-	1	0	EBF1	158072712	1.000000	0.71417	0.922000	0.36590	0.940000	0.58332	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GCC	EBF1	-	superfamily_bHLH_dom	ENSG00000164330		0.532	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	-	0.00	60	0	C	NM_024007		158140134	-1	tier1	-	no_errors	ENST00000313708	ensembl	human	known	74_37	missense	8.05	79	7	SNP	1.000	T
ELP2	55250	genome.wustl.edu	37	18	33744537	33744537	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:33744537G>A	ENST00000358232.6	+	18	1924	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	ELP2_ENST00000351393.6_Missense_Mutation_p.A595T|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Missense_Mutation_p.A616T|ELP2_ENST00000423854.2_Missense_Mutation_p.A551T|ELP2_ENST00000442325.2_Missense_Mutation_p.A686T|ELP2_ENST00000542824.1_Missense_Mutation_p.A551T	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	621				A -> T (in Ref. 3; BAG63452). {ECO:0000305}.	chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CACGCAGATGGCCTTCTCACC	0.433																																																	0													109.0	102.0	105.0					18																	33744537		2203	4300	6503	SO:0001583	missense	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.1861G>A	18.37:g.33744537G>A	ENSP00000350967:p.Ala621Thr		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A621T	ENST00000358232.6	37	c.1861	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988826	0.74589	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	5.79	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.048036	0.85682	N	0.000000	T	0.61627	0.2362	M	0.62154	1.92	0.80722	D	1	B;B;B;B;B;B	0.31859	0.343;0.343;0.05;0.01;0.003;0.183	B;B;B;B;B;B	0.36186	0.219;0.219;0.125;0.027;0.019;0.125	T	0.60515	-0.7248	10	0.37606	T	0.19	-6.7105	13.0818	0.59117	0.0787:0.0:0.9213:0.0	.	616;686;551;551;595;621	B4DTG0;E7EP23;E9PCX0;Q6IA86-2;Q6IA86-3;Q6IA86	.;.;.;.;.;ELP2_HUMAN	T	621;595;686;551;616;551	ENSP00000350967:A621T;ENSP00000257191:A595T;ENSP00000414851:A686T;ENSP00000391202:A551T;ENSP00000316051:A616T;ENSP00000443800:A551T	ENSP00000316051:A616T	A	+	1	0	ELP2	31998535	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.725000	0.61979	1.419000	0.47118	0.655000	0.94253	GCC	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.433	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0.00	131	0	G	NM_018255		33744537	+1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	A
EML2	24139	genome.wustl.edu	37	19	46129982	46129982	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:46129982T>A	ENST00000245925.3	-	8	772	c.722A>T	c.(721-723)aAg>aTg	p.K241M	EML2_ENST00000587152.1_Missense_Mutation_p.K442M|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000536630.1_Missense_Mutation_p.K388M|EML2_ENST00000589876.1_Missense_Mutation_p.K241M	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	241	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GCCTTGCCGCTTGCTCAAGCT	0.602																																																	0													90.0	90.0	90.0					19																	46129982		2203	4300	6503	SO:0001583	missense	0			AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.722A>T	19.37:g.46129982T>A	ENSP00000245925:p.Lys241Met		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Quinoprot_gluc/sorb_DH,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K442M	ENST00000245925.3	37	c.1325	CCDS12670.1	19	.	.	.	.	.	.	.	.	.	.	T	22.4	4.287003	0.80803	.	.	ENSG00000125746	ENST00000536630;ENST00000245925;ENST00000448055;ENST00000399594	T;T;T	0.32023	1.47;1.58;4.96	4.7	4.7	0.59300	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50718	0.1632	M	0.79693	2.465	0.80722	D	1	P;D;D;P;D	0.65815	0.913;0.978;0.995;0.846;0.989	P;P;P;B;P	0.57244	0.723;0.792;0.816;0.365;0.792	T	0.57802	-0.7748	10	0.72032	D	0.01	-24.7813	12.1689	0.54146	0.0:0.0:0.0:1.0	.	241;407;388;399;241	B7Z918;B7Z3Q9;B7Z3I2;B7Z872;O95834	.;.;.;.;EMAL2_HUMAN	M	388;241;442;399	ENSP00000442365:K388M;ENSP00000245925:K241M;ENSP00000382503:K399M	ENSP00000245925:K241M	K	-	2	0	EML2	50821822	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.354000	0.79424	1.970000	0.57323	0.455000	0.32223	AAG	EML2	-	superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000125746		0.602	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	EML2	HGNC	protein_coding	OTTHUMT00000459608.1	-	0.00	87	0	T	NM_012155		46129982	-1	tier1	-	no_errors	ENST00000587152	ensembl	human	known	74_37	missense	32.50	54	26	SNP	1.000	A
AL354984.1	0	genome.wustl.edu	37	20	56493976	56493976	+	RNA	SNP	A	A	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:56493976A>C	ENST00000408080.1	+	0	37																											attttaaatcaataacaagtc	0.294																																																	0																																												0																															20.37:g.56493976A>C				RNA	SNP	-	NULL	ENST00000408080.1	37	NULL		20																																																																																			AL354984.1	-	-	ENSG00000221007		0.294	AL354984.1-201	NOVEL	basic	miRNA	ENSG00000221007	Clone_based_ensembl_gene	miRNA		-	0.00	65	0	A			56493976	+1	tier1	-	no_errors	ENST00000408080	ensembl	human	novel	74_37	rna	5.06	75	4	SNP	0.001	C
RP11-782C8.2	0	genome.wustl.edu	37	1	143210535	143210535	+	lincRNA	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:143210535G>C	ENST00000412204.2	-	0	535				RP11-782C8.1_ENST00000438000.1_lincRNA																							AAAAAGTTCAGAAATTTATTT	0.318																																																	0																																												0																															1.37:g.143210535G>C				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			RP11-782C8.2	-	-	ENSG00000232274		0.318	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	-	0.00	59	0	G			143210535	-1	tier1	-	no_errors	ENST00000412204	ensembl	human	known	74_37	rna	24.00	38	12	SNP	0.988	C
SALL1	6299	genome.wustl.edu	37	16	51183171	51183171	+	Intron	DEL	T	T	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:51183171delT	ENST00000251020.4	-	1	110				SALL1_ENST00000562674.1_Intron|SALL1_ENST00000541611.1_Intron|AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGGCCGAGACTTTTTTTTTTT	0.318																																					GBM(103;1352 1446 1855 4775 8890)												0																																										SO:0001627	intron_variant	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.76+1905A>-	16.37:g.51183171delT			Q99881|Q9NSC3|Q9P1R0	RNA	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																			AC009166.5	-	-	ENSG00000261238		0.318	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261238	Clone_based_vega_gene	protein_coding	OTTHUMT00000256883.2		0.00	31	0	T	NM_002968		51183171	+1	tier1		no_errors	ENST00000570060	ensembl	human	known	74_37	rna	10.53	17	2	DEL	0.007	-
EYA3	2140	genome.wustl.edu	37	1	28362085	28362085	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:28362085C>T	ENST00000373871.3	-	6	571	c.331G>A	c.(331-333)Gca>Aca	p.A111T	EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000540618.1_Missense_Mutation_p.A111T|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000545175.1_Missense_Mutation_p.A58T|EYA3_ENST00000373863.3_Missense_Mutation_p.A111T|EYA3_ENST00000373864.1_Intron	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	111					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)		GTTTGGGTTGCCTGAGGGTAG	0.433																																																	0													272.0	263.0	266.0					1																	28362085		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.331G>A	1.37:g.28362085C>T	ENSP00000362978:p.Ala111Thr		A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA	p.A111T	ENST00000373871.3	37	c.331	CCDS316.1	1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.303674	0.23736	.	.	ENSG00000158161	ENST00000373871;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D	0.91577	-2.87;-2.81;-2.85;-2.72	5.59	5.59	0.84812	.	0.207924	0.50627	D	0.000107	T	0.79953	0.4535	N	0.12182	0.205	0.80722	D	1	B;B;B	0.14012	0.003;0.009;0.001	B;B;B	0.12156	0.005;0.007;0.004	T	0.73563	-0.3943	10	0.14656	T	0.56	-21.8132	10.6664	0.45732	0.0:0.8835:0.0:0.1164	.	111;111;111	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	T	111;111;58;111	ENSP00000362978:A111T;ENSP00000442558:A111T;ENSP00000442280:A58T;ENSP00000362970:A111T	ENSP00000362970:A111T	A	-	1	0	EYA3	28234672	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.942000	0.49018	2.627000	0.88993	0.655000	0.94253	GCA	EYA3	-	NULL	ENSG00000158161		0.433	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA3	HGNC	protein_coding	OTTHUMT00000011184.1	-	0.00	97	0	C	NM_001990		28362085	-1	tier1	-	no_errors	ENST00000373871	ensembl	human	known	74_37	missense	6.33	74	5	SNP	1.000	T
FAM135A	57579	genome.wustl.edu	37	6	71236398	71236398	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:71236398A>C	ENST00000418814.2	+	15	4225	c.3611A>C	c.(3610-3612)cAa>cCa	p.Q1204P	FAM135A_ENST00000505868.1_Missense_Mutation_p.Q1204P|FAM135A_ENST00000370479.3_Missense_Mutation_p.Q991P|FAM135A_ENST00000505769.1_Missense_Mutation_p.Q784P|FAM135A_ENST00000361499.3_Missense_Mutation_p.Q1008P|FAM135A_ENST00000457062.2_Missense_Mutation_p.Q991P	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1204										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCTCAAATACAAGCGTAAGTA	0.363																																																	0													34.0	36.0	35.0					6																	71236398		2200	4295	6495	SO:0001583	missense	0			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.3611A>C	6.37:g.71236398A>C	ENSP00000410768:p.Gln1204Pro		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.Q1204P	ENST00000418814.2	37	c.3611	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	A	14.32	2.498908	0.44455	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T	0.23754	2.21;2.2;1.89;2.2;2.2;2.2	5.52	5.52	0.82312	.	0.270105	0.43579	D	0.000543	T	0.20292	0.0488	L	0.57536	1.79	0.27065	N	0.963465	P;P;P;P	0.46656	0.882;0.708;0.773;0.807	P;B;B;P	0.49999	0.628;0.328;0.361;0.528	T	0.08207	-1.0733	10	0.40728	T	0.16	.	10.2393	0.43301	0.7558:0.0:0.0:0.2441	.	1204;1204;1008;991	Q9P2D6-4;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	P	1204;991;784;991;1008;1204	ENSP00000410768:Q1204P;ENSP00000359510:Q991P;ENSP00000423785:Q784P;ENSP00000409201:Q991P;ENSP00000354913:Q1008P;ENSP00000423307:Q1204P	ENSP00000354913:Q1008P	Q	+	2	0	FAM135A	71293119	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.181000	0.50903	2.211000	0.71520	0.533000	0.62120	CAA	FAM135A	-	NULL	ENSG00000082269		0.363	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	HGNC	protein_coding	OTTHUMT00000041137.2		0.00	17	0	A	NM_020819		71236398	+1			no_errors	ENST00000418814	ensembl	human	known	74_37	missense	33.33	18	9	SNP	1.000	C
FAM178A	55719	genome.wustl.edu	37	10	102684710	102684710	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:102684710C>A	ENST00000238961.4	+	5	2494	c.1952C>A	c.(1951-1953)tCt>tAt	p.S651Y	FAM178A_ENST00000370269.3_Missense_Mutation_p.S651Y|FAM178A_ENST00000370271.3_Missense_Mutation_p.S651Y	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	651						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)											GGGCTTAGATCTCAGTCATCA	0.403																																																	0													70.0	79.0	76.0					10																	102684710		2189	4268	6457	SO:0001583	missense	0			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.1952C>A	10.37:g.102684710C>A	ENSP00000238961:p.Ser651Tyr		A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	NULL	p.S651Y	ENST00000238961.4	37	c.1952	CCDS7500.1	10	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393422	0.42410	.	.	ENSG00000119906	ENST00000370271;ENST00000238961;ENST00000370269	T;T;T	0.50001	0.76;1.36;1.36	6.03	5.12	0.69794	.	0.909903	0.09477	N	0.796859	T	0.48370	0.1496	N	0.24115	0.695	0.36974	D	0.893981	D;P;P;D	0.59767	0.986;0.904;0.944;0.969	P;P;P;P	0.54100	0.742;0.461;0.461;0.66	T	0.47289	-0.9129	10	0.59425	D	0.04	-0.0239	11.6925	0.51525	0.0:0.919:0.0:0.081	.	300;651;651;651	Q96LW0;Q8IX21;B1AL17;B1AL16	.;F178A_HUMAN;.;.	Y	651	ENSP00000359294:S651Y;ENSP00000238961:S651Y;ENSP00000359292:S651Y	ENSP00000238961:S651Y	S	+	2	0	FAM178A	102674700	0.541000	0.26417	0.996000	0.52242	0.981000	0.71138	1.414000	0.34736	2.861000	0.98227	0.655000	0.94253	TCT	FAM178A	-	NULL	ENSG00000119906		0.403	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM178A	HGNC	protein_coding	OTTHUMT00000049897.3	-	0.00	41	0	C			102684710	+1	tier1	-	no_errors	ENST00000370269	ensembl	human	known	74_37	missense	32.43	25	12	SNP	0.779	A
FAM187A	100528020	genome.wustl.edu	37	17	42981907	42981907	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:42981907G>A	ENST00000331733.4	+	4	2546	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	FAM187A_ENST00000412523.2_Missense_Mutation_p.R237Q|AC015936.3_ENST00000441312.1_RNA|CCDC103_ENST00000417826.2_3'UTR	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	A6NFU0	F187A_HUMAN	family with sequence similarity 187, member A	237						integral component of membrane (GO:0016021)											GTGCTGGTTCGGAGCTGCTTA	0.612																																																	0																																										SO:0001583	missense	0					17q21.31	2013-01-11			ENSG00000214447	ENSG00000214447		"""Immunoglobulin superfamily / V-set domain containing"""	35153	protein-coding gene	gene with protein product							Standard			Approved		uc002ihp.1	A6NFU0	OTTHUMG00000154266	ENST00000331733.4:c.710G>A	17.37:g.42981907G>A	ENSP00000329499:p.Arg237Gln			Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like_dom	p.R237Q	ENST00000331733.4	37	c.710		17	.	.	.	.	.	.	.	.	.	.	G	9.220	1.033137	0.19590	.	.	ENSG00000214447	ENST00000412523;ENST00000331733	T;T	0.28895	1.59;1.59	5.93	-3.91	0.04168	.	0.425470	0.24769	N	0.035754	T	0.19366	0.0465	.	.	.	0.80722	D	1	B	0.15930	0.015	B	0.12837	0.008	T	0.10086	-1.0645	9	0.19590	T	0.45	-13.8856	15.9931	0.80220	0.1201:0.0:0.8799:0.0	.	237	A6NFU0	F187A_HUMAN	Q	237	ENSP00000391869:R237Q;ENSP00000329499:R237Q	ENSP00000329499:R237Q	R	+	2	0	FAM187A	40337433	0.696000	0.27757	0.300000	0.25030	0.068000	0.16541	1.436000	0.34980	-1.070000	0.03149	-0.291000	0.09656	CGG	FAM187A	-	NULL	ENSG00000214447		0.612	FAM187A-001	KNOWN	basic|appris_principal	protein_coding	FAM187A	HGNC	protein_coding	OTTHUMT00000334584.1	-	0.00	46	0	G			42981907	+1	tier1	-	no_errors	ENST00000331733	ensembl	human	known	74_37	missense	46.88	17	15	SNP	0.851	A
FAM86DP	692099	genome.wustl.edu	37	3	75478287	75478287	+	RNA	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:75478287C>A	ENST00000459803.1	-	0	378					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		CTTCTCATACCAGCAAATAAC	0.552																																																	0																																												0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75478287C>A				RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.552	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1	-	0.00	243	0	C	NR_024241		75478287	-1	tier1	-	no_errors	ENST00000459803	ensembl	human	known	74_37	rna	44.44	75	60	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92085866	92085866	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:92085866C>A	ENST00000298047.6	+	1	605	c.588C>A	c.(586-588)taC>taA	p.Y196*	FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y46*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Y196*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y196*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	196	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTACTACTACTTTAAAAATA	0.403										TCGA Ovarian(4;0.039)																																							0													55.0	54.0	54.0					11																	92085866		1841	4097	5938	SO:0001587	stop_gained	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.588C>A	11.37:g.92085866C>A	ENSP00000298047:p.Tyr196*		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Y196*	ENST00000298047.6	37	c.588		11	.	.	.	.	.	.	.	.	.	.	C	36	5.902803	0.97087	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.26	2.4	0.29515	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1231	0.30982	0.0:0.683:0.0:0.317	.	.	.	.	X	196;196;196;46	.	ENSP00000298047:Y196X	Y	+	3	2	FAT3	91725514	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.622000	0.36997	0.317000	0.23160	-0.137000	0.14449	TAC	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.403	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		-	0.00	45	0	C	NM_001008781		92085866	+1	tier1	-	no_errors	ENST00000298047	ensembl	human	known	74_37	nonsense	36.36	14	8	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8203386	8203386	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:8203386C>T	ENST00000600128.1	-	9	1342	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	FBN3_ENST00000601739.1_Missense_Mutation_p.G310S|FBN3_ENST00000270509.2_Missense_Mutation_p.G310S			Q75N90	FBN3_HUMAN	fibrillin 3	310	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGTGGCCGGCGAGGTCT	0.652																																																	0													23.0	25.0	25.0					19																	8203386		2201	4299	6500	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.928G>A	19.37:g.8203386C>T	ENSP00000470498:p.Gly310Ser		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.G310S	ENST00000600128.1	37	c.928	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	c	13.90	2.374613	0.42105	.	.	ENSG00000142449	ENST00000270509	D	0.93953	-3.32	4.06	4.06	0.47325	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.96654	0.8908	M	0.88031	2.925	0.43885	D	0.996502	D	0.89917	1.0	D	0.78314	0.991	D	0.96021	0.9009	10	0.18276	T	0.48	.	16.1794	0.81889	0.0:1.0:0.0:0.0	.	310	Q75N90	FBN3_HUMAN	S	310	ENSP00000270509:G310S	ENSP00000270509:G310S	G	-	1	0	FBN3	8109386	0.948000	0.32251	0.032000	0.17829	0.008000	0.06430	2.859000	0.48364	1.974000	0.57490	0.556000	0.70494	GGC	FBN3	-	pfam_TB_dom,superfamily_TB_dom,pirsf_FBN	ENSG00000142449		0.652	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	-	0.00	38	0	C	NM_032447		8203386	-1	tier1	-	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	33.33	24	12	SNP	0.999	T
FBXL19	54620	genome.wustl.edu	37	16	30958499	30958499	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:30958499C>T	ENST00000380310.2	+	11	2191	c.2033C>T	c.(2032-2034)cCc>cTc	p.P678L	FBXL19_ENST00000338343.4_Missense_Mutation_p.P658L|AC135048.13_ENST00000566056.1_RNA|FBXL19_ENST00000562319.1_Missense_Mutation_p.P658L|ORAI3_ENST00000318663.4_5'Flank|FBXL19_ENST00000565690.1_Missense_Mutation_p.P542L|ORAI3_ENST00000562699.1_5'Flank|FBXL19_ENST00000471231.2_Missense_Mutation_p.P366L|ORAI3_ENST00000566237.1_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	678					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCTGCCGGGCCCCCTGGCCCC	0.711																																																	0													10.0	13.0	12.0					16																	30958499		1886	4084	5970	SO:0001583	missense	0			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.2033C>T	16.37:g.30958499C>T	ENSP00000369666:p.Pro678Leu		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.P678L	ENST00000380310.2	37	c.2033	CCDS45465.1	16	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889062	0.52014	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.22945	1.93;2.23	5.27	5.27	0.74061	.	0.105886	0.37715	N	0.001968	T	0.20007	0.0481	N	0.19112	0.55	0.51012	D	0.9999	B;B	0.14438	0.01;0.006	B;B	0.12156	0.007;0.007	T	0.02844	-1.1103	10	0.39692	T	0.17	-13.6469	17.6484	0.88155	0.0:1.0:0.0:0.0	.	678;635	Q6PCT2;Q6PCT2-2	FXL19_HUMAN;.	L	658;678	ENSP00000339712:P658L;ENSP00000369666:P678L	ENSP00000339712:P658L	P	+	2	0	FBXL19	30866000	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.806000	0.47947	2.456000	0.83038	0.555000	0.69702	CCC	FBXL19	-	NULL	ENSG00000099364		0.711	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19	HGNC	protein_coding		-	0.00	53	0	C	NM_019085		30958499	+1	tier1	-	no_errors	ENST00000380310	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	T
FKBP7	51661	genome.wustl.edu	37	2	179330499	179330499	+	Nonstop_Mutation	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:179330499A>G	ENST00000424785.2	-	4	725	c.667T>C	c.(667-669)Tag>Cag	p.*223Q	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Nonstop_Mutation_p.*222Q	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	0					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAAATATGCTATAGTTCATCG	0.308																																					Melanoma(26;682 927 5286 17599 46613)												0													82.0	79.0	80.0					2																	179330499		2203	4300	6503	SO:0001578	stop_lost	0			AF092137	CCDS2280.1, CCDS46462.1	2q31.2	2013-01-10	2001-11-28		ENSG00000079150	ENSG00000079150		"""EF-hand domain containing"""	3723	protein-coding gene	gene with protein product		607062	"""FK506-binding protein 7"""			9806833	Standard	NM_181342		Approved	FKBP23	uc002umk.3	Q9Y680	OTTHUMG00000132577	ENST00000424785.2:c.667T>C	2.37:g.179330499A>G	ENSP00000413152:p.*223Gluext*10		Q4ZG70|Q6V3B2|Q86U65|Q96DA4|Q9Y6B0	Nonstop_Mutation	SNP	pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom	p.*223Q	ENST00000424785.2	37	c.667	CCDS2280.1	2	.	.	.	.	.	.	.	.	.	.	A	31	5.067805	0.93950	.	.	ENSG00000079150	ENST00000424785;ENST00000350591;ENST00000434643	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.23150	N	0.998216	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3015	0.82820	1.0:0.0:0.0:0.0	.	.	.	.	Q	223;258;222	.	.	X	-	1	0	FKBP7	179038745	1.000000	0.71417	0.965000	0.40720	0.878000	0.50629	8.389000	0.90172	2.239000	0.73571	0.533000	0.62120	TAG	FKBP7	-	NULL	ENSG00000079150		0.308	FKBP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FKBP7	HGNC	protein_coding	OTTHUMT00000255783.1	-	0.00	70	0	A	NM_181342		179330499	-1	tier1	-	no_errors	ENST00000424785	ensembl	human	known	74_37	nonstop	26.79	41	15	SNP	1.000	G
FLG	2312	genome.wustl.edu	37	1	152283278	152283278	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:152283278G>C	ENST00000368799.1	-	3	4119	c.4084C>G	c.(4084-4086)Cag>Gag	p.Q1362E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1362	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGACTGCTGGTGGCGGGAT	0.542									Ichthyosis																																								0													385.0	364.0	371.0					1																	152283278		2203	4298	6501	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4084C>G	1.37:g.152283278G>C	ENSP00000357789:p.Gln1362Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.Q1362E	ENST00000368799.1	37	c.4084	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618893	0.28801	.	.	ENSG00000143631	ENST00000368799	T	0.00832	5.64	4.29	-8.58	0.00897	.	.	.	.	.	T	0.00241	0.0007	L	0.45137	1.4	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.50533	-0.8817	9	0.02654	T	1	.	12.1367	0.53974	0.0947:0.1357:0.6951:0.0746	.	1362	P20930	FILA_HUMAN	E	1362	ENSP00000357789:Q1362E	ENSP00000357789:Q1362E	Q	-	1	0	FLG	150549902	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.576000	0.00910	-2.245000	0.00705	-0.280000	0.10049	CAG	FLG	-	pfam_Filaggrin	ENSG00000143631		0.542	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	246	0	G	NM_002016		152283278	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	24.42	164	53	SNP	0.000	C
FLJ33360	401172	genome.wustl.edu	37	5	6312341	6312341	+	lincRNA	DEL	T	T	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:6312341delT	ENST00000507444.1	-	0	631					NR_028351.1																						GACTAGGTGATTTTTTTTCCA	0.493																																																	0																																												0																															5.37:g.6312341delT				RNA	DEL	-	NULL	ENST00000507444.1	37	NULL		5																																																																																			CTD-2324F15.2	-	-	ENSG00000250490		0.493	CTD-2324F15.2-001	KNOWN	basic|exp_conf	lincRNA	FLJ33360	Clone_based_vega_gene	lincRNA	OTTHUMT00000365707.1		0.00	44	0	T			6312341	-1	tier1		no_errors	ENST00000507444	ensembl	human	known	74_37	rna	17.07	34	7	DEL	0.000	-
FLJ36000	284124	genome.wustl.edu	37	17	21909575	21909575	+	lincRNA	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:21909575G>C	ENST00000581223.2	+	0	300					NR_027084.1																						CAATCTTGAAGAGGAAGCCGT	0.557																																																	0																																												0																															17.37:g.21909575G>C				RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-	ENSG00000266795		0.557	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	-	0.00	30	0	G			21909575	+1	tier1	-	no_errors	ENST00000581223	ensembl	human	known	74_37	rna	32.14	19	9	SNP	0.017	C
FOPNL	123811	genome.wustl.edu	37	16	15977900	15977900	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:15977900T>G	ENST00000255759.6	-	2	220	c.191A>C	c.(190-192)aAc>aCc	p.N64T	FOPNL_ENST00000573396.1_Missense_Mutation_p.N64T|FOPNL_ENST00000573429.1_Missense_Mutation_p.N64T|CTA-972D3.2_ENST00000573856.1_RNA|FOPNL_ENST00000575744.1_Intron|FOPNL_ENST00000575073.1_Missense_Mutation_p.N64T|FOPNL_ENST00000573968.1_Missense_Mutation_p.N64T	NM_144600.2	NP_653201.1	Q96NB1	FOPNL_HUMAN	FGFR1OP N-terminal like	64	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.|Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly (GO:0042384)|microtubule anchoring (GO:0034453)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						CTTATATTTGTTGAATTCTAA	0.353																																																	0													84.0	87.0	86.0					16																	15977900		2197	4300	6497	SO:0001583	missense	0			AL832498	CCDS10567.1	16p13.11	2011-03-18	2011-03-18	2011-03-18	ENSG00000133393	ENSG00000133393			26435	protein-coding gene	gene with protein product	"""pluripotent embryonic stem cell-related protein"", ""FOP-related protein of 20 kDa"""		"""chromosome 16 open reading frame 63"""	C16orf63		12477932	Standard	NM_144600		Approved	DKFZp686N1651, FLJ31153, PHSECRG2, FOR20	uc002dec.1	Q96NB1	OTTHUMG00000129923	ENST00000255759.6:c.191A>C	16.37:g.15977900T>G	ENSP00000255759:p.Asn64Thr		B3KPU9	Missense_Mutation	SNP	pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.N64T	ENST00000255759.6	37	c.191	CCDS10567.1	16	.	.	.	.	.	.	.	.	.	.	t	24.7	4.555938	0.86231	.	.	ENSG00000133393	ENST00000255759	.	.	.	5.96	5.96	0.96718	LisH dimerisation motif (2);FGFR1 oncogene partner (FOP), N-terminal dimerisation domain (1);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	M	0.89904	3.07	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.81193	-0.1044	9	0.22706	T	0.39	-33.3191	14.2233	0.65843	0.0:0.0:0.0:1.0	.	64;64	B3KPU9;Q96NB1	.;FOPNL_HUMAN	T	64	.	ENSP00000255759:N64T	N	-	2	0	FOPNL	15885401	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.301000	0.78850	2.297000	0.77311	0.515000	0.50301	AAC	FOPNL	-	pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation	ENSG00000133393		0.353	FOPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOPNL	HGNC	protein_coding	OTTHUMT00000252177.2	-	0.00	68	0	T	NM_144600		15977900	-1	tier1	-	no_errors	ENST00000255759	ensembl	human	known	74_37	missense	32.39	48	23	SNP	1.000	G
FOXO6	100132074	genome.wustl.edu	37	1	41847433	41847433	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:41847433A>G	ENST00000372591.1	+	2	569	c.560A>G	c.(559-561)aAc>aGc	p.N187S				A8MYZ6	FOXO6_HUMAN	forkhead box O6	187					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TCCATGGACAACGGGGCCAAG	0.677																																																	0																																										SO:0001583	missense	0					1p34.2	2012-04-19	2009-07-23		ENSG00000204060	ENSG00000204060		"""Forkhead boxes"""	24814	protein-coding gene	gene with protein product		611457				12857750	Standard	XM_003846623		Approved			A8MYZ6	OTTHUMG00000005713	ENST00000372591.1:c.560A>G	1.37:g.41847433A>G	ENSP00000361672:p.Asn187Ser			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.N187S	ENST00000372591.1	37	c.560		1	.	.	.	.	.	.	.	.	.	.	a	21.2	4.116014	0.77323	.	.	ENSG00000204060	ENST00000372591	D	0.95949	-3.86	3.52	3.52	0.40303	.	0.224693	0.35646	U	0.003079	D	0.91905	0.7437	N	0.17082	0.46	0.46609	D	0.999129	.	.	.	.	.	.	D	0.91139	0.4944	8	0.49607	T	0.09	-36.9553	11.3791	0.49746	1.0:0.0:0.0:0.0	.	.	.	.	S	187	ENSP00000361672:N187S	ENSP00000361672:N187S	N	+	2	0	FOXO6	41620020	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.166000	0.71896	1.377000	0.46286	0.235000	0.17854	AAC	FOXO6	-	NULL	ENSG00000204060		0.677	FOXO6-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	FOXO6	HGNC	protein_coding	OTTHUMT00000015642.1	-	0.00	128	0	A	XM_002342102		41847433	+1	tier1	-	no_errors	ENST00000372591	ensembl	human	putative	74_37	missense	33.02	71	35	SNP	1.000	G
FPGT	8790	genome.wustl.edu	37	1	74670421	74670421	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:74670421G>T	ENST00000609362.1	+	4	727	c.690G>T	c.(688-690)aaG>aaT	p.K230N	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000370894.5_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.K243N|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	230					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TCCTTCATAAGCCCAGCATAG	0.393																																																	0													75.0	75.0	75.0					1																	74670421		2203	4300	6503	SO:0001583	missense	0			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.690G>T	1.37:g.74670421G>T	ENSP00000476680:p.Lys230Asn		A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.K243N	ENST00000609362.1	37	c.729	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964755	0.53507	.	.	ENSG00000254685	ENST00000370898	T	0.43294	0.95	5.57	3.71	0.42584	L-fucokinase (1);	.	.	.	.	T	0.53238	0.1784	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58109	-0.7694	8	.	.	.	.	9.1517	0.36967	0.2856:0.0:0.7144:0.0	.	230	O14772	FPGT_HUMAN	N	230	ENSP00000359935:K230N	.	K	+	3	2	TNNI3K	74443009	0.829000	0.29322	1.000000	0.80357	0.992000	0.81027	-0.028000	0.12350	0.717000	0.32145	0.591000	0.81541	AAG	FPGT	-	pfam_Fucokinase,pirsf_Fucose-1-phosphate_GuaTrfase	ENSG00000254685		0.393	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding			0.00	34	0	G			74670421	+1			no_errors	ENST00000370898	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
FRMPD1	22844	genome.wustl.edu	37	9	37744831	37744831	+	Silent	SNP	C	C	T	rs374764713		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:37744831C>T	ENST00000539465.1	+	16	3395	c.2802C>T	c.(2800-2802)atC>atT	p.I934I	FRMPD1_ENST00000377765.3_Silent_p.I934I|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	934						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.I934I(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AATCAGTCATCGACTCTCGAG	0.542																																																	1	Substitution - coding silent(1)	prostate(1)											113.0	98.0	103.0					9																	37744831		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2802C>T	9.37:g.37744831C>T			B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Silent	SNP	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.I934	ENST00000539465.1	37	c.2802	CCDS6612.1	9																																																																																			FRMPD1	-	NULL	ENSG00000070601		0.542	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	HGNC	protein_coding	OTTHUMT00000402969.1		0.00	66	0	C	NM_014907		37744831	+1			no_errors	ENST00000377765	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.623	T
GABRG2	2566	genome.wustl.edu	37	5	161522567	161522567	+	Splice_Site	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:161522567T>A	ENST00000361925.4	+	3	546	c.326T>A	c.(325-327)aTg>aAg	p.M109K	GABRG2_ENST00000356592.3_Splice_Site_p.M109K|GABRG2_ENST00000414552.2_Splice_Site_p.M109K|GABRG2_ENST00000393933.4_Splice_Site_p.M14K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	109					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GCTATCAATATGGTGAGTTTC	0.343																																																	0													168.0	162.0	164.0					5																	161522567		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.327+1T>A	5.37:g.161522567T>A			F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.M109K	ENST00000361925.4	37	c.326	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	T	26.6	4.748716	0.89753	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	6.07	6.07	0.98685	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.89605	0.6763	M	0.90425	3.115	0.80722	D	1	P;P;D	0.57257	0.779;0.904;0.979	P;P;P	0.62649	0.614;0.842;0.905	D	0.91522	0.5235	10	0.87932	D	0	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	109;109;109	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	109;109;109;14;14	ENSP00000349000:M109K;ENSP00000410732:M109K;ENSP00000354651:M109K;ENSP00000377510:M14K;ENSP00000430182:M14K	ENSP00000349000:M109K	M	+	2	0	GABRG2	161455145	1.000000	0.71417	1.000000	0.80357	0.757000	0.42996	7.603000	0.82811	2.330000	0.79161	0.528000	0.53228	ATG	GABRG2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000113327		0.343	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	-	0.00	62	0	T		Missense_Mutation	161522567	+1	tier1	-	no_errors	ENST00000356592	ensembl	human	known	74_37	missense	15.09	45	8	SNP	1.000	A
GBP5	115362	genome.wustl.edu	37	1	89730518	89730518	+	Missense_Mutation	SNP	C	C	T	rs143883598		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:89730518C>T	ENST00000370459.3	-	7	1127	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank|GBP5_ENST00000343435.5_Missense_Mutation_p.D334N			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	334						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATTTGCTGGTCATAGTGGGCA	0.557																																																	0								C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	99.0	87.0	91.0		1000,1000	3.1	1.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GBP5	NM_001134486.2,NM_052942.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	334/587,334/587	89730518	1,13005	2203	4300	6503	SO:0001583	missense	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1000G>A	1.37:g.89730518C>T	ENSP00000359488:p.Asp334Asn		B2RCE1|Q86TM5	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.D334N	ENST00000370459.3	37	c.1000	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	C	12.90	2.075618	0.36662	0.0	1.16E-4	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.01981	4.52;4.52;4.52	4.96	3.08	0.35506	Guanylate-binding protein, C-terminal (3);	0.421002	0.27912	N	0.017343	T	0.01835	0.0058	M	0.66939	2.045	0.29161	N	0.877763	B	0.30664	0.289	B	0.40477	0.33	T	0.31052	-0.9957	10	0.51188	T	0.08	-14.4697	9.482	0.38906	0.0:0.8269:0.0:0.1731	.	334	Q96PP8	GBP5_HUMAN	N	334	ENSP00000340396:D334N;ENSP00000359488:D334N;ENSP00000403010:D334N	ENSP00000340396:D334N	D	-	1	0	GBP5	89503106	0.994000	0.37717	0.998000	0.56505	0.004000	0.04260	1.182000	0.32029	0.810000	0.34279	-0.300000	0.09419	GAC	GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000154451		0.557	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	-	0.00	110	0	C	NM_052942		89730518	-1	tier1	rs143883598	no_errors	ENST00000343435	ensembl	human	known	74_37	missense	26.19	93	33	SNP	1.000	T
GHITM	27069	genome.wustl.edu	37	10	85901340	85901340	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:85901340G>A	ENST00000372134.3	+	2	277	c.84G>A	c.(82-84)gtG>gtA	p.V28V	RP11-338I21.1_ENST00000606511.1_RNA	NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	28					apoptotic process (GO:0006915)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCCCTGTTGTGAAGAATTCCA	0.468																																																	0													121.0	115.0	117.0					10																	85901340		1876	4115	5991	SO:0001819	synonymous_variant	0			AB009685	CCDS41542.1	10q23.1	2008-02-01			ENSG00000165678	ENSG00000165678			17281	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 5"""					8619474, 9110174	Standard	NM_014394		Approved	HSPC282, PTD010, DERP2, My021, TMBIM5	uc001kcs.1	Q9H3K2	OTTHUMG00000018637	ENST00000372134.3:c.84G>A	10.37:g.85901340G>A			A8K9Z9|D3DWE0|O95894|Q5VT95|Q9H0P2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.V28	ENST00000372134.3	37	c.84	CCDS41542.1	10																																																																																			GHITM	-	NULL	ENSG00000165678		0.468	GHITM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHITM	HGNC	protein_coding	OTTHUMT00000049125.1	-	0.00	104	0	G	NM_014394		85901340	+1	tier1	-	no_errors	ENST00000372134	ensembl	human	known	74_37	silent	31.34	46	21	SNP	0.995	A
GOLGA8M	653720	genome.wustl.edu	37	15	28951806	28951806	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:28951806C>G	ENST00000563027.1	-	9	630	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	GOLGA8M_ENST00000563213.1_5'Flank|GOLGA8M_ENST00000340249.3_Missense_Mutation_p.E130Q|RN7SL719P_ENST00000487967.2_RNA					golgin A8 family, member M																		ATGGACTGCTCTAACTTCCAC	0.542																																																	0																																										SO:0001583	missense	0				CCDS61572.1	15q13.1	2014-03-21			ENSG00000188626	ENSG00000188626			44404	protein-coding gene	gene with protein product							Standard	NM_001282468		Approved			H3BSY2	OTTHUMG00000176338	ENST00000563027.1:c.631G>C	15.37:g.28951806C>G	ENSP00000456927:p.Glu211Gln			Missense_Mutation	SNP	NULL	p.E130Q	ENST00000563027.1	37	c.388		15	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.525979	0.00147	.	.	ENSG00000188626	ENST00000340249	T	0.28454	1.61	0.798	-0.38	0.12490	.	.	.	.	.	T	0.13841	0.0335	L	0.28192	0.835	0.09310	N	1	.	.	.	.	.	.	T	0.32587	-0.9901	7	0.02654	T	1	.	4.475	0.11731	0.0:0.439:0.561:0.0	.	.	.	.	Q	130	ENSP00000344295:E130Q	ENSP00000344295:E130Q	E	-	1	0	AC055876.1	26750847	0.444000	0.25649	0.016000	0.15963	0.019000	0.09904	0.364000	0.20325	-0.128000	0.11641	0.184000	0.17185	GAG	GOLGA8M	-	NULL	ENSG00000188626		0.542	GOLGA8M-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8M	HGNC	protein_coding	OTTHUMT00000431777.1	-	0.00	74	0	C			28951806	-1	tier1	-	no_errors	ENST00000340249	ensembl	human	known	74_37	missense	16.67	55	11	SNP	0.021	G
GRAMD1B	57476	genome.wustl.edu	37	11	123465506	123465506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:123465506G>A	ENST00000529750.1	+	5	731	c.404G>A	c.(403-405)tGg>tAg	p.W135*	GRAMD1B_ENST00000456860.2_Nonsense_Mutation_p.W142*|GRAMD1B_ENST00000322282.7_Nonsense_Mutation_p.W135*	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	135	GRAM.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TCTGAAAATTGGATCTGCTTC	0.542																																																	0													116.0	114.0	114.0					11																	123465506		1995	4183	6178	SO:0001587	stop_gained	0			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.404G>A	11.37:g.123465506G>A	ENSP00000436500:p.Trp135*		Q6UW85|Q9ULL9	Nonsense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.W135*	ENST00000529750.1	37	c.404	CCDS53720.1	11	.	.	.	.	.	.	.	.	.	.	G	40	8.231483	0.98717	.	.	ENSG00000023171	ENST00000539133;ENST00000456860;ENST00000322282;ENST00000529750;ENST00000529432;ENST00000534764	.	.	.	5.47	5.47	0.80525	.	0.123692	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.3361	0.94319	0.0:0.0:1.0:0.0	.	.	.	.	X	142;142;135;135;95;131	.	ENSP00000325628:W135X	W	+	2	0	GRAMD1B	122970716	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.841000	0.99482	2.555000	0.86185	0.551000	0.68910	TGG	GRAMD1B	-	pfam_GRAM,smart_GRAM	ENSG00000023171		0.542	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	HGNC	protein_coding	OTTHUMT00000387404.2	-	0.00	44	0	G	XM_370660		123465506	+1	tier1	-	no_errors	ENST00000322282	ensembl	human	known	74_37	nonsense	51.61	15	16	SNP	1.000	A
GRIA2	2891	genome.wustl.edu	37	4	158281060	158281060	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:158281060G>A	ENST00000264426.9	+	13	2335	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T	GRIA2_ENST00000449365.1_Missense_Mutation_p.A639T|GRIA2_ENST00000507898.1_Missense_Mutation_p.A639T|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000296526.7_Missense_Mutation_p.A686T|GRIA2_ENST00000393815.2_Missense_Mutation_p.A639T	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	686					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.A686S(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCTAAAATTGCAGTGTTTGA	0.448																																																	2	Substitution - Missense(2)	lung(2)											53.0	54.0	54.0					4																	158281060		2203	4300	6503	SO:0001583	missense	0				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.2056G>A	4.37:g.158281060G>A	ENSP00000264426:p.Ala686Thr		A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.A686T	ENST00000264426.9	37	c.2056	CCDS43274.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.108844|4.108844	0.77096|0.77096	.|.	.|.	ENSG00000120251|ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365|ENST00000510854	T;T;T;T;T|.	0.39406|.	1.08;1.08;1.08;1.08;1.08|.	5.69|5.69	5.69|5.69	0.88448|0.88448	Ionotropic glutamate receptor (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47544|0.47544	0.1451|0.1451	N|N	0.12182|0.12182	0.205|0.205	0.58432|0.58432	D|D	0.999999|0.999999	D;B;D|.	0.76494|.	0.98;0.386;0.999|.	P;P;D|.	0.81914|.	0.799;0.464;0.995|.	T|T	0.42050|0.42050	-0.9474|-0.9474	10|5	0.87932|.	D|.	0|.	.|.	16.1021|16.1021	0.81178|0.81178	0.0:0.1336:0.8663:0.0|0.0:0.1336:0.8663:0.0	.|.	686;686;639|.	P42262;P42262-2;A8MT92|.	GRIA2_HUMAN;.;.|.	T|Y	639;639;686;686;639|16	ENSP00000426845:A639T;ENSP00000377403:A639T;ENSP00000296526:A686T;ENSP00000264426:A686T;ENSP00000389837:A639T|.	ENSP00000264426:A686T|.	A|C	+|+	1|2	0|0	GRIA2|GRIA2	158500510|158500510	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.925000|7.925000	0.87563|0.87563	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCA|TGC	GRIA2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000120251		0.448	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	HGNC	protein_coding	OTTHUMT00000258367.2		0.00	87	0	G			158281060	+1			no_errors	ENST00000264426	ensembl	human	known	74_37	missense	5.08	56	3	SNP	1.000	A
GRID2IP	392862	genome.wustl.edu	37	7	6541500	6541500	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:6541500G>A	ENST00000457091.2	-	20	3310	c.3311C>T	c.(3310-3312)gCt>gTt	p.A1104V	GRID2IP_ENST00000435185.1_Missense_Mutation_p.A920V|GRID2IP_ENST00000452113.1_Missense_Mutation_p.A913V	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	1104	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						ATGGAGGTCAGCCAGGTCACT	0.602																																																	0													57.0	56.0	56.0					7																	6541500		692	1591	2283	SO:0001583	missense	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.3311C>T	7.37:g.6541500G>A	ENSP00000397351:p.Ala1104Val			Missense_Mutation	SNP	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.A1104V	ENST00000457091.2	37	c.3311	CCDS47537.1	7	.	.	.	.	.	.	.	.	.	.	G	11.64	1.700315	0.30142	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.17854	2.25;2.25;2.25	4.85	3.97	0.46021	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.507162	0.19779	U	0.106271	T	0.11367	0.0277	L	0.27053	0.805	0.31251	N	0.694	B	0.13594	0.008	B	0.11329	0.006	T	0.05194	-1.0900	10	0.44086	T	0.13	.	7.0313	0.24969	0.0925:0.1742:0.7333:0.0	.	1104	A4D2P6	GRD2I_HUMAN	V	913;920;1104	ENSP00000397887:A913V;ENSP00000408364:A920V;ENSP00000397351:A1104V	ENSP00000408364:A920V	A	-	2	0	GRID2IP	6508025	0.975000	0.34042	0.998000	0.56505	0.514000	0.34195	1.363000	0.34159	1.408000	0.46895	-0.140000	0.14226	GCT	GRID2IP	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000215045		0.602	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	-	0.00	33	0	G	XM_294249		6541500	-1	tier1	-	no_errors	ENST00000457091	ensembl	human	putative	74_37	missense	12.00	22	3	SNP	0.998	A
GRXCR1	389207	genome.wustl.edu	37	4	42965095	42965095	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:42965095C>T	ENST00000399770.2	+	2	571	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	191	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ACGATGCCGACGAGTTTCTGA	0.428																																																	0													350.0	350.0	350.0					4																	42965095		1915	4124	6039	SO:0001587	stop_gained	0				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.571C>T	4.37:g.42965095C>T	ENSP00000382670:p.Arg191*			Nonsense_Mutation	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.R191*	ENST00000399770.2	37	c.571	CCDS43225.1	4	.	.	.	.	.	.	.	.	.	.	C	18.54	3.646267	0.67358	.	.	ENSG00000215203	ENST00000399770	.	.	.	6.07	4.13	0.48395	.	0.000000	0.64402	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-14.2846	13.3208	0.60432	0.3815:0.6185:0.0:0.0	.	.	.	.	X	191	.	ENSP00000382670:R191X	R	+	1	2	GRXCR1	42659852	0.973000	0.33851	0.862000	0.33874	0.238000	0.25445	2.413000	0.44618	1.515000	0.48885	0.655000	0.94253	CGA	GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000215203		0.428	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	-	0.00	112	0	C	NM_001080476		42965095	+1	tier1	-	no_errors	ENST00000399770	ensembl	human	known	74_37	nonsense	33.85	43	22	SNP	0.935	T
GSK3B	2932	genome.wustl.edu	37	3	119582439	119582439	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:119582439C>T	ENST00000264235.8	-	9	1905	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	GSK3B_ENST00000473886.1_5'UTR|GSK3B_ENST00000316626.5_Missense_Mutation_p.R321Q	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell migration (GO:0016477)|cellular response to interleukin-3 (GO:0036016)|cellular response to mechanical stimulus (GO:0071260)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial to mesenchymal transition (GO:0001837)|ER overload response (GO:0006983)|establishment of cell polarity (GO:0030010)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fat cell differentiation (GO:0045444)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hippocampus development (GO:0021766)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|myoblast fusion (GO:0007520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of NFAT protein import into nucleus (GO:0051534)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of type B pancreatic cell development (GO:2000077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein binding (GO:0032092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|protein localization to microtubule (GO:0035372)|protein phosphorylation (GO:0006468)|re-entry into mitotic cell cycle (GO:0000320)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of microtubule-based process (GO:0032886)|regulation of neuronal synaptic plasticity (GO:0048168)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|superior temporal gyrus development (GO:0071109)	beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|kinase activity (GO:0016301)|NF-kappaB binding (GO:0051059)|p53 binding (GO:0002039)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II transcription factor binding (GO:0001085)|tau-protein kinase activity (GO:0050321)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	CGGTGGAGTTCGGGGTCGGAA	0.423																																																	0													57.0	52.0	54.0					3																	119582439		2203	4300	6503	SO:0001583	missense	0			BC012760	CCDS2996.1, CCDS54628.1	3q13.3	2008-02-15			ENSG00000082701	ENSG00000082701			4617	protein-coding gene	gene with protein product		605004				10486203	Standard	NM_002093		Approved		uc003edm.3	P49841	OTTHUMG00000133765	ENST00000264235.8:c.923G>A	3.37:g.119582439C>T	ENSP00000264235:p.Arg308Gln		D3DN89|Q9BWH3|Q9UL47	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.R321Q	ENST00000264235.8	37	c.962	CCDS54628.1	3	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916643	0.92249	.	.	ENSG00000082701	ENST00000264235;ENST00000316626;ENST00000539838	T;T	0.42513	0.97;0.97	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	N	0.21240	0.645	0.80722	D	1	D;D	0.56287	0.975;0.968	P;B	0.46299	0.511;0.377	T	0.36648	-0.9739	10	0.66056	D	0.02	-8.0903	18.9171	0.92510	0.0:1.0:0.0:0.0	.	308;321	P49841;P49841-2	GSK3B_HUMAN;.	Q	308;321;25	ENSP00000264235:R308Q;ENSP00000324806:R321Q	ENSP00000264235:R308Q	R	-	2	0	GSK3B	121065129	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.771000	0.95319	0.650000	0.86243	CGA	GSK3B	-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000082701		0.423	GSK3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3B	HGNC	protein_coding	OTTHUMT00000258240.2	-	0.00	67	0	C			119582439	-1	tier1	-	no_errors	ENST00000316626	ensembl	human	known	74_37	missense	41.82	32	23	SNP	1.000	T
HCN1	348980	genome.wustl.edu	37	5	45262772	45262772	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:45262772G>A	ENST00000303230.4	-	8	1981	c.1924C>T	c.(1924-1926)Cct>Tct	p.P642S		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	642					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTCATTTGAGGATAATTGATG	0.498																																																	0													193.0	175.0	181.0					5																	45262772		2203	4300	6503	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1924C>T	5.37:g.45262772G>A	ENSP00000307342:p.Pro642Ser			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P642S	ENST00000303230.4	37	c.1924	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	G	3.067	-0.191984	0.06299	.	.	ENSG00000164588	ENST00000303230	T	0.71934	-0.61	5.91	5.03	0.67393	.	0.215451	0.32190	N	0.006453	T	0.37433	0.1003	N	0.00841	-1.15	0.32487	N	0.5407	B	0.10296	0.003	B	0.04013	0.001	T	0.37174	-0.9717	10	0.07482	T	0.82	.	14.4959	0.67685	0.0696:0.0:0.9304:0.0	.	642	O60741	HCN1_HUMAN	S	642	ENSP00000307342:P642S	ENSP00000307342:P642S	P	-	1	0	HCN1	45298529	.	.	0.940000	0.37924	0.048000	0.14542	.	.	2.793000	0.96121	0.655000	0.94253	CCT	HCN1	-	NULL	ENSG00000164588		0.498	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	65	0	G	NM_021072		45262772	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	20.00	56	14	SNP	0.992	A
HEYL	26508	genome.wustl.edu	37	1	40092733	40092733	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:40092733C>T	ENST00000372852.3	-	5	752	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	HEYL_ENST00000535435.1_Missense_Mutation_p.V117I	NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	145	Orange. {ECO:0000255|PROSITE- ProRule:PRU00380}.				atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.V145I(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGAATCCGGACGGGGTCTGCA	0.642																																																	1	Substitution - Missense(1)	endometrium(1)											51.0	49.0	49.0					1																	40092733		2203	4300	6503	SO:0001583	missense	0			BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.433G>A	1.37:g.40092733C>T	ENSP00000361943:p.Val145Ile		Q5TG99	Missense_Mutation	SNP	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom	p.V145I	ENST00000372852.3	37	c.433	CCDS439.1	1	.	.	.	.	.	.	.	.	.	.	C	9.667	1.145727	0.21288	.	.	ENSG00000163909	ENST00000372852;ENST00000535435	T;T	0.50548	0.74;0.74	5.02	3.99	0.46301	Orange subgroup (1);Orange (2);	0.181693	0.46758	D	0.000272	T	0.27349	0.0671	N	0.17594	0.5	0.26423	N	0.976071	B	0.24768	0.111	B	0.28465	0.09	T	0.06285	-1.0835	10	0.45353	T	0.12	-33.1038	3.1424	0.06460	0.0:0.5167:0.2953:0.188	.	145	Q9NQ87	HEYL_HUMAN	I	145;117	ENSP00000361943:V145I;ENSP00000439071:V117I	ENSP00000361943:V145I	V	-	1	0	HEYL	39865320	0.013000	0.17824	0.578000	0.28575	0.551000	0.35334	0.010000	0.13242	2.321000	0.78463	0.462000	0.41574	GTC	HEYL	-	pfam_Orange,smart_Orange_subgr,pfscan_Orange	ENSG00000163909		0.642	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEYL	HGNC	protein_coding	OTTHUMT00000001179.2	-	0.00	64	0	C	NM_014571		40092733	-1	tier1	-	no_errors	ENST00000372852	ensembl	human	known	74_37	missense	30.77	36	16	SNP	0.465	T
HORMAD1	84072	genome.wustl.edu	37	1	150671191	150671191	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:150671191G>A	ENST00000361824.2	-	15	1229	c.1124C>T	c.(1123-1125)tCt>tTt	p.S375F	HORMAD1_ENST00000368995.4_Missense_Mutation_p.S295F|GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S375F|GOLPH3L_ENST00000540514.1_5'Flank|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S368F|GOLPH3L_ENST00000479757.1_5'Flank	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	375					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			TTGACTAGAAGAATCAAAGTG	0.328																																																	0													73.0	77.0	76.0					1																	150671191		2203	4299	6502	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1124C>T	1.37:g.150671191G>A	ENSP00000355167:p.Ser375Phe		A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.S375F	ENST00000361824.2	37	c.1124	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	9.544	1.114225	0.20795	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.55588	0.51;1.0;1.12;1.01	4.98	0.573	0.17363	.	0.202100	0.34906	N	0.003581	T	0.13841	0.0335	L	0.29908	0.895	0.24623	N	0.993665	B;B;B	0.26258	0.046;0.145;0.009	B;B;B	0.22601	0.04;0.039;0.007	T	0.13522	-1.0506	10	0.41790	T	0.15	-4.8547	2.3898	0.04375	0.1587:0.2811:0.4155:0.1447	.	295;368;375	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	F	295;375;304;295;368;375	ENSP00000357991:S295F;ENSP00000357989:S375F;ENSP00000326489:S368F;ENSP00000355167:S375F	ENSP00000326489:S368F	S	-	2	0	HORMAD1	148937815	1.000000	0.71417	0.963000	0.40424	0.637000	0.38172	2.013000	0.40942	0.110000	0.17919	-0.519000	0.04390	TCT	HORMAD1	-	NULL	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	-	0.00	94	0	G	NM_032132		150671191	-1	tier1	-	no_errors	ENST00000361824	ensembl	human	known	74_37	missense	27.96	67	26	SNP	0.600	A
HOXC9	3225	genome.wustl.edu	37	12	54394503	54394503	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:54394503G>A	ENST00000303450.4	+	1	601	c.531G>A	c.(529-531)ctG>ctA	p.L177L	HOXC9_ENST00000508190.1_Silent_p.L177L|HOXC-AS1_ENST00000512427.1_RNA|HOXC-AS1_ENST00000505700.1_RNA|HOXC9_ENST00000504557.1_Intron|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	177					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGGCCGACCTGGACCCCAGTA	0.697																																																	0													6.0	7.0	7.0					12																	54394503		1560	3340	4900	SO:0001819	synonymous_variant	0				CCDS8869.1	12q13.13	2011-06-20	2005-12-22			ENSG00000180806		"""Homeoboxes / ANTP class : HOXL subclass"""	5130	protein-coding gene	gene with protein product		142971	"""homeo box C9"""	HOX3, HOX3B		1973146	Standard	NM_006897		Approved		uc001seq.3	P31274		ENST00000303450.4:c.531G>A	12.37:g.54394503G>A			B2RCN7|Q9H1I0	Silent	SNP	pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa	p.L177	ENST00000303450.4	37	c.531	CCDS8869.1	12																																																																																			HOXC9	-	pfam_Hox9_activation_N,superfamily_Homeodomain-like,pirsf_Homeobox_Hox9	ENSG00000180806		0.697	HOXC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC9	HGNC	protein_coding	OTTHUMT00000358958.1	-	0.00	22	0	G			54394503	+1	tier1	-	no_errors	ENST00000303450	ensembl	human	known	74_37	silent	26.32	14	5	SNP	1.000	A
HSP90B1	7184	genome.wustl.edu	37	12	104337535	104337535	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:104337535C>G	ENST00000299767.5	+	14	2092	c.1910C>G	c.(1909-1911)tCt>tGt	p.S637C		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	637					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCTGTGGTGTCTCAGCGCCTG	0.448																																																	0													101.0	91.0	94.0					12																	104337535		2203	4300	6503	SO:0001583	missense	0			AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1910C>G	12.37:g.104337535C>G	ENSP00000299767:p.Ser637Cys		Q96A97	Missense_Mutation	SNP	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.S637C	ENST00000299767.5	37	c.1910	CCDS9094.1	12	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650590	0.87958	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.56941	0.43	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84871	0.5568	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90625	0.4562	10	0.87932	D	0	.	19.961	0.97250	0.0:1.0:0.0:0.0	.	637	P14625	ENPL_HUMAN	C	637;387	ENSP00000299767:S637C	ENSP00000299767:S637C	S	+	2	0	HSP90B1	102861665	1.000000	0.71417	0.303000	0.25071	0.990000	0.78478	7.818000	0.86416	2.783000	0.95769	0.655000	0.94253	TCT	HSP90B1	-	pirsf_Hsp90_fam,pfam_Hsp90_fam	ENSG00000166598		0.448	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90B1	HGNC	protein_coding	OTTHUMT00000407349.1	-	0.00	87	0	C	NM_003299		104337535	+1	tier1	-	no_errors	ENST00000299767	ensembl	human	known	74_37	missense	11.96	81	11	SNP	1.000	G
IGF1R	3480	genome.wustl.edu	37	15	99500554	99500554	+	Silent	SNP	C	C	G	rs531882235		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:99500554C>G	ENST00000268035.6	+	21	4598	c.3987C>G	c.(3985-3987)ccC>ccG	p.P1329P	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Silent_p.P1328P	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1329					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	AGAACGGCCCCGGCCCTGGGG	0.692																																																	0													35.0	41.0	39.0					15																	99500554		2197	4297	6494	SO:0001819	synonymous_variant	0			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3987C>G	15.37:g.99500554C>G			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom	p.P1329	ENST00000268035.6	37	c.3987	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt	ENSG00000140443		0.692	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2		0.00	64	0	C	NM_000875		99500554	+1			no_errors	ENST00000268035	ensembl	human	known	74_37	silent	5.88	48	3	SNP	0.026	G
INTS2	57508	genome.wustl.edu	37	17	59955383	59955383	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:59955383G>A	ENST00000444766.3	-	18	2420	c.2345C>T	c.(2344-2346)tCt>tTt	p.S782F	INTS2_ENST00000251334.6_Missense_Mutation_p.S774F	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	782					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TTCACTGGCAGAGAGTAGAGT	0.368																																																	0													132.0	119.0	123.0					17																	59955383		1864	4103	5967	SO:0001583	missense	0			AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.2345C>T	17.37:g.59955383G>A	ENSP00000414237:p.Ser782Phe		Q9ULD3	Missense_Mutation	SNP	NULL	p.S782F	ENST00000444766.3	37	c.2345	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596410	0.86953	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.47869	0.83	5.56	5.56	0.83823	.	0.112963	0.64402	D	0.000007	T	0.64875	0.2638	M	0.61703	1.905	0.80722	D	1	D	0.64830	0.994	D	0.77004	0.989	T	0.63229	-0.6684	9	.	.	.	-14.882	14.1588	0.65434	0.0:0.1497:0.8503:0.0	.	782	Q9H0H0	INT2_HUMAN	F	782;781	ENSP00000414237:S782F	.	S	-	2	0	INTS2	57310165	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.733000	0.68571	2.585000	0.87301	0.650000	0.86243	TCT	INTS2	-	NULL	ENSG00000108506		0.368	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	HGNC	protein_coding	OTTHUMT00000445368.1	-	0.00	47	0	G	NM_020748		59955383	-1	tier1	-	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	38.46	32	20	SNP	1.000	A
IREB2	3658	genome.wustl.edu	37	15	78790410	78790410	+	Silent	SNP	G	G	A	rs144816277		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:78790410G>A	ENST00000258886.8	+	22	2966	c.2817G>A	c.(2815-2817)tcG>tcA	p.S939S		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	939					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGATTGCTTCGTTTGAAGATG	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		21088	0.001		0.0	False		,,,				2504	0.0				NSCLC(200;764 2208 35157 49871 50830)												0								G		0,4392		0,0,2196	150.0	136.0	141.0		2817	-11.0	0.4	15	dbSNP_134	141	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous	IREB2	NM_004136.2		0,1,6488	AA,AG,GG		0.0116,0.0,0.0077		939/964	78790410	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2817G>A	15.37:g.78790410G>A			A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.S939	ENST00000258886.8	37	c.2817	CCDS10302.1	15																																																																																			IREB2	-	superfamily_Aconitase/3IPM_dehydase_swvl,tigrfam_Aconitase/Fe_reg_prot_2	ENSG00000136381		0.363	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	-	0.00	46	0	G	NM_004136		78790410	+1	tier1	rs144816277	no_errors	ENST00000258886	ensembl	human	known	74_37	silent	12.50	42	6	SNP	0.028	A
ITGAE	3682	genome.wustl.edu	37	17	3665243	3665243	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:3665243delC	ENST00000263087.4	-	4	379	c.281delG	c.(280-282)ggafs	p.G94fs		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	94					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AACGGTCACTCCCCGGTGCCT	0.627																																					NSCLC(182;635 2928 8995 38788)												0													76.0	53.0	61.0					17																	3665243		2203	4300	6503	SO:0001589	frameshift_variant	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.281delG	17.37:g.3665243delC	ENSP00000263087:p.Gly94fs		Q17RS6|Q9NZU9	Frame_Shift_Del	DEL	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.G94fs	ENST00000263087.4	37	c.281	CCDS32531.1	17																																																																																			ITGAE	-	NULL	ENSG00000083457		0.627	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1		0.00	18	0	C	NM_002208		3665243	-1	tier1		no_errors	ENST00000263087	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.517	-
KCNA5	3741	genome.wustl.edu	37	12	5154277	5154277	+	Missense_Mutation	SNP	G	G	A	rs139614200		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:5154277G>A	ENST00000252321.3	+	1	1193	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	322					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	GACCCTGGCCGACCCCTTCTT	0.701																																																	0													61.0	59.0	60.0					12																	5154277		2203	4300	6503	SO:0001583	missense	0			M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.964G>A	12.37:g.5154277G>A	ENSP00000252321:p.Asp322Asn		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.D322N	ENST00000252321.3	37	c.964	CCDS8536.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990334	0.74589	.	.	ENSG00000130037	ENST00000252321	D	0.97404	-4.37	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.96827	0.8964	M	0.88241	2.94	0.80722	D	1	P	0.37352	0.591	B	0.34180	0.177	D	0.97580	1.0110	10	0.54805	T	0.06	.	16.9696	0.86295	0.0:0.0:1.0:0.0	.	322	P22460	KCNA5_HUMAN	N	322	ENSP00000252321:D322N	ENSP00000252321:D322N	D	+	1	0	KCNA5	5024538	1.000000	0.71417	0.822000	0.32727	0.939000	0.58152	9.576000	0.98192	2.478000	0.83669	0.561000	0.74099	GAC	KCNA5	-	NULL	ENSG00000130037		0.701	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA5	HGNC	protein_coding	OTTHUMT00000398925.2		0.00	30	0	G	NM_002234		5154277	+1			no_errors	ENST00000252321	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.998	A
KDM1A	23028	genome.wustl.edu	37	1	23395626	23395626	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:23395626G>A	ENST00000356634.3	+	10	1472	c.1323G>A	c.(1321-1323)ttG>ttA	p.L441L	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Silent_p.L465L|KDM1A_ENST00000542151.1_Silent_p.L465L	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	441	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGGAAGAATTGAAAGAACTTC	0.318																																																	0													55.0	55.0	55.0					1																	23395626		2203	4300	6503	SO:0001819	synonymous_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.1323G>A	1.37:g.23395626G>A			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Silent	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.L465	ENST00000356634.3	37	c.1395	CCDS30627.1	1																																																																																			KDM1A	-	pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease	ENSG00000004487		0.318	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	-	0.00	89	0	G	NM_015013		23395626	+1	tier1	-	no_errors	ENST00000542151	ensembl	human	known	74_37	silent	30.56	50	22	SNP	1.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105520920	105520920	+	Missense_Mutation	SNP	C	C	A	rs575817689		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:105520920C>A	ENST00000332180.5	+	13	1139	c.1052C>A	c.(1051-1053)aCt>aAt	p.T351N		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						CCAGCCATCACTCTAACTGCT	0.358																																																	0													65.0	64.0	64.0					12																	105520920		1808	4072	5880	SO:0001583	missense	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1052C>A	12.37:g.105520920C>A	ENSP00000328062:p.Thr351Asn			Missense_Mutation	SNP	NULL	p.T351N	ENST00000332180.5	37	c.1052	CCDS41826.1	12	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855267	0.51376	.	.	ENSG00000136051	ENST00000332180	T	0.30448	1.53	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.32556	0.0833	L	0.54323	1.7	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.18871	0.023;0.023	T	0.08576	-1.0715	10	0.22706	T	0.39	.	18.6899	0.91580	0.0:1.0:0.0:0.0	.	351;351	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	351	ENSP00000328062:T351N	ENSP00000328062:T351N	T	+	2	0	KIAA1033	104045050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.571000	0.82399	2.391000	0.81399	0.650000	0.86243	ACT	KIAA1033	-	NULL	ENSG00000136051		0.358	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	-	0.00	130	0	C	NM_015275		105520920	+1	tier1	-	no_errors	ENST00000332180	ensembl	human	known	74_37	missense	23.40	108	33	SNP	1.000	A
KDM2B	84678	genome.wustl.edu	37	12	121877875	121877875	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:121877875T>A	ENST00000377071.4	-	22	3686	c.3614A>T	c.(3613-3615)cAg>cTg	p.Q1205L	KDM2B_ENST00000542973.1_Missense_Mutation_p.Q573L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000377069.4_Missense_Mutation_p.Q1136L	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1205					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTGTCCATCTGACCTGGTGG	0.612																																																	0													35.0	41.0	39.0					12																	121877875		2062	4198	6260	SO:0001583	missense	0			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3614A>T	12.37:g.121877875T>A	ENSP00000366271:p.Gln1205Leu		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q1205L	ENST00000377071.4	37	c.3614	CCDS41850.1	12	.	.	.	.	.	.	.	.	.	.	T	33	5.206692	0.95033	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.31769	1.48;1.48;1.48	5.61	5.61	0.85477	.	0.000000	0.50627	D	0.000119	T	0.37517	0.1006	N	0.26042	0.785	0.80722	D	1	B;D;D;B	0.63880	0.012;0.993;0.993;0.012	B;D;D;B	0.72338	0.035;0.977;0.977;0.035	T	0.09335	-1.0679	10	0.02654	T	1	-36.1166	15.8121	0.78573	0.0:0.0:0.0:1.0	.	645;1205;1136;648	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	L	1195;573;1136;1205;648;1208	ENSP00000437821:Q573L;ENSP00000366269:Q1136L;ENSP00000366271:Q1205L	ENSP00000261824:Q1208L	Q	-	2	0	KDM2B	120362258	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.040000	0.89188	2.139000	0.66308	0.533000	0.62120	CAG	KDM2B	-	NULL	ENSG00000089094		0.612	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KDM2B	HGNC	protein_coding	OTTHUMT00000402132.2	-	0.00	47	0	T	NM_032590		121877875	-1	tier1	-	no_errors	ENST00000377071	ensembl	human	known	74_37	missense	18.18	36	8	SNP	1.000	A
KIAA1244	57221	genome.wustl.edu	37	6	138550974	138550974	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:138550974G>A	ENST00000251691.4	+	5	571	c.405G>A	c.(403-405)gtG>gtA	p.V135V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GGAGTGCCGTGCTGAAGATCG	0.468																																																	0													201.0	166.0	178.0					6																	138550974		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.405G>A	6.37:g.138550974G>A				Silent	SNP	pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom	p.V135	ENST00000251691.4	37	c.405	CCDS5189.2	6																																																																																			KIAA1244	-	superfamily_ARM-type_fold	ENSG00000112379		0.468	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	-	0.00	77	0	G	NM_020340		138550974	+1	tier1	-	no_errors	ENST00000251691	ensembl	human	known	74_37	silent	7.55	49	4	SNP	1.000	A
KIF21B	23046	genome.wustl.edu	37	1	200967542	200967542	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:200967542G>A	ENST00000422435.2	-	14	2363	c.2047C>T	c.(2047-2049)Ctg>Ttg	p.L683L	KIF21B_ENST00000360529.5_Silent_p.L683L|KIF21B_ENST00000332129.2_Silent_p.L683L|KIF21B_ENST00000461742.2_Silent_p.L683L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	683					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCGCGCTCCAGCTGTGTGTCT	0.602																																																	0													100.0	104.0	103.0					1																	200967542		2203	4300	6503	SO:0001819	synonymous_variant	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.2047C>T	1.37:g.200967542G>A			B2RP62|B7ZMI0|Q5T4J3	Silent	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.L683	ENST00000422435.2	37	c.2047	CCDS58056.1	1																																																																																			KIF21B	-	NULL	ENSG00000116852		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	-	0.00	69	0	G	XM_371332		200967542	-1	tier1	-	no_errors	ENST00000422435	ensembl	human	known	74_37	silent	8.06	57	5	SNP	1.000	A
KRT6A	3853	genome.wustl.edu	37	12	52884517	52884517	+	Splice_Site	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:52884517C>G	ENST00000330722.6	-	5	981	c.913G>C	c.(913-915)Gag>Cag	p.E305Q		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	305	Coil 1B.|Rod.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGACAGCTCCTGCAGAACA	0.493																																																	0													124.0	114.0	118.0					12																	52884517		2203	4300	6503	SO:0001630	splice_region_variant	0			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.913-1G>C	12.37:g.52884517C>G			A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.E305Q	ENST00000330722.6	37	c.913	CCDS41786.1	12	.	.	.	.	.	.	.	.	.	.	c	28.3	4.909316	0.92107	.	.	ENSG00000205420	ENST00000330722;ENST00000452121	D	0.96265	-3.96	5.25	5.25	0.73442	Filament (1);	0.000000	0.56097	D	0.000024	D	0.98940	0.9640	H	0.97540	4.025	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99338	1.0911	10	0.87932	D	0	.	19.2897	0.94093	0.0:1.0:0.0:0.0	.	305	P02538	K2C6A_HUMAN	Q	305;261	ENSP00000369317:E305Q	ENSP00000369317:E305Q	E	-	1	0	KRT6A	51170784	1.000000	0.71417	0.999000	0.59377	0.884000	0.51177	7.700000	0.84556	2.647000	0.89833	0.556000	0.70494	GAG	KRT6A	-	pfam_IF,superfamily_Prefoldin	ENSG00000205420		0.493	KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6A	HGNC	protein_coding	OTTHUMT00000404978.2	-	0.00	200	0	C	NM_005554	Missense_Mutation	52884517	-1	tier1	-	no_errors	ENST00000330722	ensembl	human	known	74_37	missense	7.02	159	12	SNP	1.000	G
LAMA5	3911	genome.wustl.edu	37	20	60886990	60886990	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:60886990G>A	ENST00000252999.3	-	70	9687	c.9621C>T	c.(9619-9621)taC>taT	p.Y3207Y	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3207	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			TGGCATTGCTGTAGAAGGCGA	0.637																																																	0													61.0	66.0	65.0					20																	60886990		2202	4299	6501	SO:0001819	synonymous_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.9621C>T	20.37:g.60886990G>A			Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.Y3207	ENST00000252999.3	37	c.9621	CCDS33502.1	20																																																																																			LAMA5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000130702		0.637	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	-	0.00	139	0	G	NM_005560		60886990	-1	tier1	-	no_errors	ENST00000252999	ensembl	human	known	74_37	silent	24.71	128	42	SNP	1.000	A
LANCL1	10314	genome.wustl.edu	37	2	211336800	211336800	+	Splice_Site	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:211336800G>C	ENST00000443314.1	-	2	424	c.82C>G	c.(82-84)Ctg>Gtg	p.L28V	LANCL1_ENST00000441020.3_Splice_Site_p.L28V|AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000431941.2_Splice_Site_p.L28V|LANCL1_ENST00000233714.4_Splice_Site_p.L28V|LANCL1_ENST00000450366.2_Splice_Site_p.L28V			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	28					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCAGGAGTCAGCTAGATATTA	0.448																																																	0													92.0	88.0	90.0					2																	211336800		2203	4300	6503	SO:0001630	splice_region_variant	0			Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.82-1C>G	2.37:g.211336800G>C				Missense_Mutation	SNP	pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like	p.L28V	ENST00000443314.1	37	c.82	CCDS2392.1	2	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320858	0.60634	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89	5.02	4.15	0.48705	.	0.071524	0.56097	D	0.000031	T	0.54902	0.1887	L	0.54323	1.7	0.52501	D	0.999959	D	0.76494	0.999	D	0.79108	0.992	T	0.49224	-0.8962	10	0.21540	T	0.41	.	11.6993	0.51560	0.0821:0.0:0.9179:0.0	.	28	O43813	LANC1_HUMAN	V	28	ENSP00000388713:L28V;ENSP00000393323:L28V;ENSP00000393597:L28V;ENSP00000233714:L28V;ENSP00000397646:L28V;ENSP00000396518:L28V	ENSP00000233714:L28V	L	-	1	2	LANCL1	211045045	1.000000	0.71417	0.999000	0.59377	0.847000	0.48162	4.522000	0.60539	1.105000	0.41606	0.650000	0.86243	CTG	LANCL1	-	NULL	ENSG00000115365		0.448	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LANCL1	HGNC	protein_coding	OTTHUMT00000336817.1	-	0.00	80	0	G	NM_006055	Missense_Mutation	211336800	-1	tier1	-	no_errors	ENST00000233714	ensembl	human	known	74_37	missense	30.95	29	13	SNP	1.000	C
LMBRD1	55788	genome.wustl.edu	37	6	70506734	70506734	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:70506734C>G	ENST00000370577.3	-	1	269	c.40G>C	c.(40-42)Ggc>Cgc	p.G14R		NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	14					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATGCACCAGCCGATCACCAGC	0.647											OREG0017522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													36.0	34.0	34.0					6																	70506734		2203	4300	6503	SO:0001583	missense	0			AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.40G>C	6.37:g.70506734C>G	ENSP00000359609:p.Gly14Arg	1122	A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Missense_Mutation	SNP	pfam_LMBR1-like_membr_prot	p.G14R	ENST00000370577.3	37	c.40	CCDS4969.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532567	0.85812	.	.	ENSG00000168216	ENST00000370577	T	0.11169	2.8	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00912	-1.1517	10	0.28530	T	0.3	-6.0093	17.1903	0.86877	0.0:1.0:0.0:0.0	.	14	Q9NUN5	LMBD1_HUMAN	R	14	ENSP00000359609:G14R	ENSP00000359609:G14R	G	-	1	0	LMBRD1	70563455	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	5.503000	0.66962	2.579000	0.87056	0.561000	0.74099	GGC	LMBRD1	-	NULL	ENSG00000168216		0.647	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBRD1	HGNC	protein_coding	OTTHUMT00000041124.1	-	0.00	73	0	C	NM_018368		70506734	-1	tier1	-	no_errors	ENST00000370577	ensembl	human	known	74_37	missense	28.57	40	16	SNP	1.000	G
LOC100128714	100128714	genome.wustl.edu	37	15	26147563	26147563	+	lincRNA	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:26147563C>A	ENST00000383019.2	+	0	57					NR_040082.1																						GGAAGCCTCCCAATGAGGAAA	0.592																																																	0																																												0																															15.37:g.26147563C>A				RNA	SNP	-	NULL	ENST00000383019.2	37	NULL		15																																																																																			RP11-1084I9.1	-	-	ENSG00000206187		0.592	RP11-1084I9.1-001	KNOWN	basic	lincRNA	LOC100128714	Clone_based_vega_gene	lincRNA	OTTHUMT00000414884.1	-	0.00	37	0	C			26147563	+1	tier1	-	no_errors	ENST00000383019	ensembl	human	known	74_37	rna	26.47	25	9	SNP	0.000	A
ATP6V1B1	525	genome.wustl.edu	37	2	71175455	71175455	+	Intron	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:71175455T>A	ENST00000234396.4	+	2	247				AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Intron|AC007040.7_ENST00000447639.1_RNA|AC007040.7_ENST00000422761.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1						ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						tgcatccttcttctcccgggt	0.463											OREG0014685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.174+4612T>A	2.37:g.71175455T>A		1128	Q53FY0|Q6P4H6	RNA	SNP	-	NULL	ENST00000234396.4	37	NULL	CCDS1912.1	2																																																																																			AC007040.7	-	-	ENSG00000239322		0.463	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927750	Clone_based_vega_gene	protein_coding	OTTHUMT00000251920.2	-	0.00	27	0	T	NM_001692		71175455	-1	tier1	-	no_errors	ENST00000422761	ensembl	human	known	74_37	rna	20.69	23	6	SNP	0.000	A
PRPF31	26121	genome.wustl.edu	37	19	54626002	54626002	+	Intron	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:54626002G>A	ENST00000321030.4	+	5	769				PRPF31_ENST00000391755.1_Intron|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000419967.1_Intron|PRPF31_ENST00000498612.1_Intron	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31						mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGTGCTTCTGCTGGCGTGAA	0.607																																																	0													87.0	75.0	79.0					19																	54626002		2203	4300	6503	SO:0001627	intron_variant	0			AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.420+29G>A	19.37:g.54626002G>A			Q17RB4|Q8N7F9|Q9H271|Q9Y439	RNA	SNP	-	NULL	ENST00000321030.4	37	NULL	CCDS12879.1	19																																																																																			AC012314.8	-	-	ENSG00000237017		0.607	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101928780	Clone_based_vega_gene	protein_coding	OTTHUMT00000141417.2	-	0.00	50	0	G			54626002	-1	tier1	-	no_errors	ENST00000452097	ensembl	human	known	74_37	rna	29.17	17	7	SNP	0.000	A
LOC146880	146880	genome.wustl.edu	37	17	62754401	62754401	+	RNA	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:62754401C>T	ENST00000400873.3	-	0	1799					NR_026899.1																						GTAGCATCATCAGGAAATGAG	0.408																																																	0																																												0																															17.37:g.62754401C>T				RNA	SNP	-	NULL	ENST00000400873.3	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	13.38	2.218946	0.39201	.	.	ENSG00000215769	ENST00000400873	.	.	.	3.0	1.98	0.26296	.	0.126990	0.51477	U	0.000100	T	0.56187	0.1968	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66204	-0.5982	5	0.42905	T	0.14	.	11.2748	0.49161	0.1844:0.8156:0.0:0.0	.	.	.	.	N	58	.	ENSP00000383670:D58N	D	-	1	0	AC103810.2	60184863	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.442000	0.80503	0.551000	0.29008	0.511000	0.50034	GAT	hsa-mir-6080	-	-	ENSG00000215769		0.408	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	LOC146880	miRBase	processed_transcript		-	0.00	123	0	C			62754401	-1	tier1	-	no_errors	ENST00000400873	ensembl	human	known	74_37	rna	37.18	49	29	SNP	1.000	T
LRCH1	23143	genome.wustl.edu	37	13	47224409	47224409	+	Silent	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:47224409G>T	ENST00000389798.3	+	2	578	c.381G>T	c.(379-381)ctG>ctT	p.L127L	LRCH1_ENST00000389797.3_Silent_p.L127L|LRCH1_ENST00000311191.6_Silent_p.L127L	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	127								p.H129fs*5(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		TTCTTAATCTGTATCACAACT	0.348																																																	1	Deletion - Frameshift(1)	kidney(1)											90.0	82.0	85.0					13																	47224409		2203	4300	6503	SO:0001819	synonymous_variant	0			AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.381G>T	13.37:g.47224409G>T			B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Silent	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.L127	ENST00000389798.3	37	c.381	CCDS31972.1	13																																																																																			LRCH1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136141		0.348	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRCH1	HGNC	protein_coding	OTTHUMT00000044824.2	-	0.00	52	0	G	NM_015116		47224409	+1	tier1	-	no_errors	ENST00000389798	ensembl	human	known	74_37	silent	51.85	26	28	SNP	0.670	T
LUZP2	338645	genome.wustl.edu	37	11	24518708	24518708	+	5'Flank	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:24518708G>C	ENST00000336930.6	+	0	0				LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_5'Flank			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCTGGGGACAGAGCCGGGCAC	0.657																																																	0																																										SO:0001631	upstream_gene_variant	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109		11.37:g.24518708G>C	Exception_encountered		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	RNA	SNP	-	NULL	ENST00000336930.6	37	NULL	CCDS31446.1	11																																																																																			LUZP2	-	-	ENSG00000187398		0.657	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	-	0.00	15	0	G	NM_001009909		24518708	+1	tier1	-	no_errors	ENST00000405855	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.074	C
MAGEA4	4103	genome.wustl.edu	37	X	151092505	151092505	+	Silent	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:151092505C>A	ENST00000360243.2	+	3	636	c.369C>A	c.(367-369)cgC>cgA	p.R123R	MAGEA4_ENST00000370340.3_Silent_p.R123R|MAGEA4_ENST00000393921.1_Silent_p.R123R|MAGEA4_ENST00000276344.2_Silent_p.R123R|MAGEA4_ENST00000393920.1_Silent_p.R123R|MAGEA4_ENST00000370337.4_Silent_p.R123R|MAGEA4_ENST00000370335.1_Silent_p.R123R	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	123	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTCCGCAAGTATCGAG	0.527																																																	0													80.0	77.0	78.0					X																	151092505		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.369C>A	X.37:g.151092505C>A			Q14798	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.R123	ENST00000360243.2	37	c.369	CCDS14702.1	X																																																																																			MAGEA4	-	pfam_MAGE,pfscan_MAGE	ENSG00000147381		0.527	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA4	HGNC	protein_coding	OTTHUMT00000060898.1	-	0.00	50	0	C	NM_002362		151092505	+1	tier1	-	no_errors	ENST00000276344	ensembl	human	known	74_37	silent	73.21	15	41	SNP	0.003	A
MAP1B	4131	genome.wustl.edu	37	5	71495574	71495574	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:71495574C>T	ENST00000296755.7	+	5	6690	c.6392C>T	c.(6391-6393)cCg>cTg	p.P2131L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2131					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGAGCCCCACCGCCTCCAGGA	0.562																																					Melanoma(17;367 822 11631 31730 47712)												0													72.0	75.0	74.0					5																	71495574		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.6392C>T	5.37:g.71495574C>T	ENSP00000296755:p.Pro2131Leu		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.P2131L	ENST00000296755.7	37	c.6392	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	C	15.80	2.940993	0.52972	.	.	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000018	T	0.16642	0.0400	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	0.995;1.0	P;D	0.74348	0.772;0.983	T	0.00044	-1.2220	10	0.52906	T	0.07	-11.901	19.7538	0.96281	0.0:1.0:0.0:0.0	.	2005;2131	A2BDK6;P46821	.;MAP1B_HUMAN	L	2131	ENSP00000296755:P2131L	ENSP00000296755:P2131L	P	+	2	0	MAP1B	71531330	1.000000	0.71417	0.937000	0.37676	0.967000	0.64934	5.999000	0.70665	2.690000	0.91761	0.655000	0.94253	CCG	MAP1B	-	NULL	ENSG00000131711		0.562	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0.00	35	0	C	NM_005909		71495574	+1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	29.17	34	14	SNP	1.000	T
MAP3K15	389840	genome.wustl.edu	37	X	19390939	19390939	+	Silent	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:19390939T>C	ENST00000338883.4	-	22	2939	c.2940A>G	c.(2938-2940)ccA>ccG	p.P980P	MAP3K15_ENST00000359173.3_Silent_p.P415P|MAP3K15_ENST00000469203.2_Silent_p.P812P|MAP3K15_ENST00000518578.1_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	980							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					AGCTCTCGTCTGGAACACTGT	0.627																																																	0													74.0	64.0	68.0					X																	19390939		2203	4300	6503	SO:0001819	synonymous_variant	0			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.2940A>G	X.37:g.19390939T>C			A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P980	ENST00000338883.4	37	c.2940		X																																																																																			MAP3K15	-	NULL	ENSG00000180815		0.627	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		-	0.00	22	0	T	NM_001001671		19390939	-1	tier1	-	no_errors	ENST00000338883	ensembl	human	known	74_37	silent	80.77	5	21	SNP	0.012	C
MARCH6	10299	genome.wustl.edu	37	5	10410318	10410318	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:10410318G>T	ENST00000274140.5	+	18	1753	c.1621G>T	c.(1621-1623)Gaa>Taa	p.E541*	MARCH6_ENST00000503788.1_Nonsense_Mutation_p.E436*|MARCH6_ENST00000510792.1_Nonsense_Mutation_p.E239*|MARCH6_ENST00000449913.2_Nonsense_Mutation_p.E493*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	541					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCATTACTCGAACAGGGACA	0.532																																																	0													144.0	126.0	132.0					5																	10410318		2203	4300	6503	SO:0001587	stop_gained	0			AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1621G>T	5.37:g.10410318G>T	ENSP00000274140:p.Glu541*		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.E541*	ENST00000274140.5	37	c.1621	CCDS34135.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.543623	0.99201	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.7	4.82	0.62117	.	0.098931	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.4287	16.6475	0.85180	0.0:0.1301:0.8699:0.0	.	.	.	.	X	493;436;541;239	.	ENSP00000274140:E541X	E	+	1	0	MARCH6	10463318	1.000000	0.71417	0.055000	0.19348	0.964000	0.63967	9.465000	0.97660	1.378000	0.46305	0.655000	0.94253	GAA	MARCH6	-	NULL	ENSG00000145495		0.532	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH6	HGNC	protein_coding	OTTHUMT00000366919.2	-	0.00	100	0	G	NM_005885		10410318	+1	tier1	-	no_errors	ENST00000274140	ensembl	human	known	74_37	nonsense	40.26	46	31	SNP	1.000	T
MEIS2	4212	genome.wustl.edu	37	15	37386766	37386766	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:37386766T>C	ENST00000561208.1	-	5	869	c.451A>G	c.(451-453)Ata>Gta	p.I151V	MEIS2_ENST00000340545.5_Missense_Mutation_p.I138V|MEIS2_ENST00000338564.5_Missense_Mutation_p.I151V|MEIS2_ENST00000424352.2_Missense_Mutation_p.I151V|MEIS2_ENST00000444725.1_Missense_Mutation_p.I151V|MEIS2_ENST00000397620.2_Missense_Mutation_p.I63V|MEIS2_ENST00000219869.9_Missense_Mutation_p.I5V|MEIS2_ENST00000557796.2_Missense_Mutation_p.I138V|MEIS2_ENST00000382766.2_Missense_Mutation_p.I151V|MEIS2_ENST00000397624.3_Missense_Mutation_p.I63V|MEIS2_ENST00000559085.1_Missense_Mutation_p.I138V|MEIS2_ENST00000559561.1_Missense_Mutation_p.I151V			O14770	MEIS2_HUMAN	Meis homeobox 2	151	Required for interaction with PBX1. {ECO:0000250}.				eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTACTTGTATTGCTTGTATC	0.453																																																	0													135.0	122.0	127.0					15																	37386766		2201	4297	6498	SO:0001583	missense	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.451A>G	15.37:g.37386766T>C	ENSP00000453793:p.Ile151Val		A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.I151V	ENST00000561208.1	37	c.451	CCDS10044.1	15	.	.	.	.	.	.	.	.	.	.	T	18.64	3.668308	0.67814	.	.	ENSG00000134138	ENST00000314177;ENST00000338564;ENST00000382766;ENST00000424352;ENST00000444725;ENST00000340545;ENST00000397624;ENST00000397620;ENST00000219869	T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.5	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63757	0.2538	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;P;P;B;P;D	0.89917	0.993;1.0;0.996;0.931;0.725;0.09;0.9;0.998	D;D;D;P;B;B;D;D	0.87578	0.933;0.998;0.992;0.73;0.355;0.078;0.959;0.995	T	0.68655	-0.5351	10	0.87932	D	0	-6.4629	16.2421	0.82418	0.0:0.0:0.0:1.0	.	138;151;151;151;151;5;63;138	Q96DI2;O14770-4;O14770;O14770-3;O14770-2;B3KP81;B3KPQ6;B3KP98	.;.;MEIS2_HUMAN;.;.;.;.;.	V	151;151;151;151;151;138;138;63;5	ENSP00000326296:I151V;ENSP00000341400:I151V;ENSP00000372216:I151V;ENSP00000404185:I151V;ENSP00000391887:I151V;ENSP00000339549:I138V;ENSP00000380745:I63V;ENSP00000219869:I5V	ENSP00000219869:I5V	I	-	1	0	MEIS2	35174058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.234000	0.73211	0.533000	0.62120	ATA	MEIS2	-	NULL	ENSG00000134138		0.453	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	-	0.00	48	0	T	NM_170677		37386766	-1	tier1	-	no_errors	ENST00000561208	ensembl	human	known	74_37	missense	41.30	27	19	SNP	1.000	C
MEIS3	56917	genome.wustl.edu	37	19	47920156	47920156	+	Frame_Shift_Del	DEL	G	G	-	rs372340229		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:47920156delG	ENST00000558555.1	-	3	437	c.250delC	c.(250-252)cgtfs	p.R84fs	MEIS3_ENST00000559524.1_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000561096.1_Frame_Shift_Del_p.R172fs|MEIS3_ENST00000331559.5_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000561293.1_Frame_Shift_Del_p.R84fs|MEIS3_ENST00000441740.2_Frame_Shift_Del_p.R84fs			Q99687	MEIS3_HUMAN	Meis homeobox 3	84					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GCCCCGTCACGGGGAGAGCAT	0.617																																																	0													23.0	25.0	24.0					19																	47920156		2203	4300	6503	SO:0001589	frameshift_variant	0			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.250delC	19.37:g.47920156delG	ENSP00000454073:p.Arg84fs		A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Frame_Shift_Del	DEL	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.R84fs	ENST00000558555.1	37	c.250		19																																																																																			MEIS3	-	NULL	ENSG00000105419		0.617	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1		0.00	61	0	G	XM_085929		47920156	-1	tier1		no_errors	ENST00000559524	ensembl	human	known	74_37	frame_shift_del	5.13	37	2	DEL	1.000	-
METTL21B	25895	genome.wustl.edu	37	12	58174146	58174146	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:58174146G>T	ENST00000300209.8	+	3	523	c.398G>T	c.(397-399)tGg>tTg	p.W133L	METTL21B_ENST00000551420.1_5'UTR|METTL21B_ENST00000548256.1_3'UTR|TSFM_ENST00000350762.5_5'Flank|METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000543727.1_5'Flank|TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000548851.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	133						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GCCTTGTCCTGGGGGATTGAC	0.607																																																	0													127.0	96.0	106.0					12																	58174146		2203	4300	6503	SO:0001583	missense	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.398G>T	12.37:g.58174146G>T	ENSP00000300209:p.Trp133Leu		Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Nicotinamide_N-MeTfrase-like	p.W133L	ENST00000300209.8	37	c.398	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514771	0.85389	.	.	ENSG00000123427	ENST00000300209	T	0.37235	1.21	5.21	4.32	0.51571	.	0.066071	0.64402	D	0.000004	T	0.64527	0.2606	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71371	-0.4613	10	0.87932	D	0	.	12.4341	0.55590	0.0834:0.0:0.9166:0.0	.	133	Q96AZ1	MT21B_HUMAN	L	133	ENSP00000300209:W133L	ENSP00000300209:W133L	W	+	2	0	METTL21B	56460413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.631000	0.90991	1.179000	0.42884	0.563000	0.77884	TGG	METTL21B	-	pfam_Nicotinamide_N-MeTfrase-like	ENSG00000123427		0.607	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL21B	HGNC	protein_coding	OTTHUMT00000409268.1	-	0.00	66	0	G	NM_015433		58174146	+1	tier1	-	no_errors	ENST00000300209	ensembl	human	known	74_37	missense	7.55	49	4	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42003263	42003263	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:42003263C>T	ENST00000570161.1	+	7	2800	c.2800C>T	c.(2800-2802)Cta>Tta	p.L934L	MGA_ENST00000219905.7_Silent_p.L934L|MGA_ENST00000389936.4_Silent_p.L934L|MGA_ENST00000566586.1_Silent_p.L934L|MGA_ENST00000545763.1_Silent_p.L934L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCATGTGATTCTAGGAGATAA	0.368																																																	0													142.0	140.0	141.0					15																	42003263		1881	4121	6002	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2800C>T	15.37:g.42003263C>T			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.L934	ENST00000570161.1	37	c.2800	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	46	0	C	NM_001164273.1		42003263	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	28.26	33	13	SNP	0.000	T
MPO	4353	genome.wustl.edu	37	17	56357257	56357257	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:56357257G>A	ENST00000225275.3	-	3	543	c.367C>T	c.(367-369)Cta>Tta	p.L123L	MPO_ENST00000340482.3_Silent_p.L123L|MPO_ENST00000578493.1_5'Flank	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	123					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGCAGGTCTAGAGCCACGTGC	0.622																																																	0													47.0	42.0	44.0					17																	56357257		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.367C>T	17.37:g.56357257G>A			A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.L123	ENST00000225275.3	37	c.367	CCDS11604.1	17																																																																																			MPO	-	NULL	ENSG00000005381		0.622	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	HGNC	protein_coding	OTTHUMT00000443971.1	-	0.00	59	0	G			56357257	-1	tier1	-	no_errors	ENST00000340482	ensembl	human	known	74_37	silent	35.19	35	19	SNP	0.957	A
MROH9	80133	genome.wustl.edu	37	1	170959002	170959002	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:170959002A>T	ENST00000367758.3	+	11	985	c.886A>T	c.(886-888)Aag>Tag	p.K296*	MROH9_ENST00000367759.4_Nonsense_Mutation_p.K296*	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	296																	CCAGGTGTCTAAGATCGTGGA	0.393																																																	0													182.0	170.0	174.0					1																	170959002		1868	4106	5974	SO:0001587	stop_gained	0			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.886A>T	1.37:g.170959002A>T	ENSP00000356732:p.Lys296*		A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.K296*	ENST00000367758.3	37	c.886	CCDS41436.1	1	.	.	.	.	.	.	.	.	.	.	A	33	5.244417	0.95272	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	.	.	.	5.29	2.79	0.32731	.	0.284096	0.30510	N	0.009476	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2187	9.5061	0.39048	0.6579:0.3421:0.0:0.0	.	.	.	.	X	296	.	ENSP00000356732:K296X	K	+	1	0	C1orf129	169225626	1.000000	0.71417	1.000000	0.80357	0.457000	0.32468	1.861000	0.39438	0.818000	0.34468	0.383000	0.25322	AAG	MROH9	-	superfamily_ARM-type_fold	ENSG00000117501		0.393	MROH9-001	KNOWN	basic|CCDS	protein_coding	MROH9	HGNC	protein_coding	OTTHUMT00000099327.1	-	0.00	123	0	A	NM_025063		170959002	+1	tier1	-	no_errors	ENST00000367759	ensembl	human	known	74_37	nonsense	21.51	73	20	SNP	0.993	T
MT-CO1	4512	genome.wustl.edu	37	M	6692	6692	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrM:6692delA	ENST00000361624.2	+	1	789	c.789delA	c.(787-789)ggafs	p.G263fs	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-CO3_ENST00000362079.2_5'Flank|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	263					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TACTACTCCGGAAAAAAAGAA	0.383																																																	0																																										SO:0001589	frameshift_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.789delA	M.37:g.6692delA	ENSP00000354499:p.Gly263fs		Q34770	Frame_Shift_Del	DEL	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.E266fs	ENST00000361624.2	37	c.789		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom	ENSG00000198804		0.383	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding			0.00	14	0	A	YP_003024028		6692	+1	tier1		no_errors	ENST00000361624	ensembl	human	known	74_37	frame_shift_del	21.05	15	4	DEL	NULL	-
MTBP	27085	genome.wustl.edu	37	8	121463519	121463521	+	In_Frame_Del	DEL	GAA	GAA	-	rs372780440	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:121463519_121463521delGAA	ENST00000305949.1	+	4	427_429	c.382_384delGAA	c.(382-384)gaadel	p.E130del		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	130					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TGAGTGTTTTGAAGAAGAAGACA	0.3														5	0.000998403	0.0038	0.0	5008	,	,		15654	0.0		0.0	False		,,,				2504	0.0																0										10,4254		0,10,2122						4.0	1.0			106	0,8250		0,0,4125	no	coding	MTBP	NM_022045.3		0,10,6247	A1A1,A1R,RR		0.0,0.2345,0.0799				10,12504				SO:0001651	inframe_deletion	0				CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.382_384delGAA	8.37:g.121463525_121463527delGAA	ENSP00000303398:p.Glu130del		B4DUR5|Q9HA89	In_Frame_Del	DEL	NULL	p.E130in_frame_del	ENST00000305949.1	37	c.382_384	CCDS6333.1	8																																																																																			MTBP	-	NULL	ENSG00000172167		0.300	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTBP	HGNC	protein_coding	OTTHUMT00000381530.1		0.00	44	0	GAA	NM_022045		121463521	+1	tier1		no_errors	ENST00000305949	ensembl	human	known	74_37	in_frame_del	15.09	45	8	DEL	1.000:1.000:1.000	-
NACAD	23148	genome.wustl.edu	37	7	45122609	45122609	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:45122609C>T	ENST00000490531.2	-	2	3189	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1057					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGTGTGCGCTCGCGCTTCCAG	0.612																																																	0													35.0	33.0	33.0					7																	45122609		692	1591	2283	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.3170G>A	7.37:g.45122609C>T	ENSP00000420477:p.Arg1057Gln			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom	p.R1057Q	ENST00000490531.2	37	c.3170	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	c	0.131	-1.114012	0.01799	.	.	ENSG00000136274	ENST00000490531	T	0.11169	2.8	3.41	-6.82	0.01698	.	.	.	.	.	T	0.04048	0.0113	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33033	-0.9884	9	0.22706	T	0.39	5.2091	1.5274	0.02528	0.2151:0.252:0.0979:0.435	.	1057	O15069	NACAD_HUMAN	Q	1057	ENSP00000420477:R1057Q	ENSP00000420477:R1057Q	R	-	2	0	NACAD	45089134	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.086000	0.01361	-3.206000	0.00216	-2.650000	0.00149	CGA	NACAD	-	NULL	ENSG00000136274		0.612	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	-	0.00	48	0	C	NM_001146334		45122609	-1	tier1	-	no_errors	ENST00000490531	ensembl	human	known	74_37	missense	29.31	41	17	SNP	0.000	T
NCOA1	8648	genome.wustl.edu	37	2	24888748	24888748	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:24888748G>A	ENST00000406961.1	+	6	872	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	NCOA1_ENST00000395856.3_Missense_Mutation_p.V74I|NCOA1_ENST00000538539.1_Missense_Mutation_p.V74I|NCOA1_ENST00000405141.1_Missense_Mutation_p.V74I|NCOA1_ENST00000348332.3_Missense_Mutation_p.V74I|NCOA1_ENST00000407230.1_Intron|NCOA1_ENST00000288599.5_Missense_Mutation_p.V74I			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	74	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAGAAAACAGTCGATCAGAT	0.333			T	PAX3	alveolar rhadomyosarcoma																																			Dom	yes		2	2p23	8648	nuclear receptor coactivator 1		M	0													122.0	125.0	124.0					2																	24888748		2203	4300	6503	SO:0001583	missense	0			U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.220G>A	2.37:g.24888748G>A	ENSP00000385216:p.Val74Ile		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Missense_Mutation	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom	p.V74I	ENST00000406961.1	37	c.220	CCDS1712.1	2	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812102	0.70797	.	.	ENSG00000084676	ENST00000406961;ENST00000405141;ENST00000538539;ENST00000348332;ENST00000288599;ENST00000395856	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.9	4.9	0.64082	Helix-loop-helix DNA-binding (4);	0.064398	0.64402	D	0.000008	D	0.96078	0.8722	L	0.50333	1.59	0.58432	D	0.999996	P;P;B	0.52842	0.879;0.956;0.017	P;P;B	0.51016	0.488;0.656;0.069	D	0.94620	0.7812	10	0.39692	T	0.17	.	11.6931	0.51527	0.0821:0.0:0.9179:0.0	.	74;74;74	Q15788-3;Q15788;Q15788-2	.;NCOA1_HUMAN;.	I	74	ENSP00000385216:V74I;ENSP00000385097:V74I;ENSP00000444039:V74I;ENSP00000320940:V74I;ENSP00000288599:V74I;ENSP00000379197:V74I	ENSP00000288599:V74I	V	+	1	0	NCOA1	24742252	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	7.683000	0.84093	2.689000	0.91719	0.655000	0.94253	GTC	NCOA1	-	superfamily_bHLH_dom,smart_bHLH_dom,pirsf_Nuclear_rcpt_coactivator,pfscan_bHLH_dom	ENSG00000084676		0.333	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCOA1	HGNC	protein_coding	OTTHUMT00000246852.3	-	0.00	33	0	G	NM_147223		24888748	+1	tier1	-	no_errors	ENST00000348332	ensembl	human	known	74_37	missense	22.22	28	8	SNP	1.000	A
NDNF	79625	genome.wustl.edu	37	4	121957628	121957628	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:121957628G>T	ENST00000379692.4	-	4	2024	c.1498C>A	c.(1498-1500)Caa>Aaa	p.Q500K	NDNF_ENST00000506900.1_5'Flank	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	500	Fibronectin type-III 2.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CCTAGACATTGGTTTTGCTCT	0.398																																																	0													166.0	149.0	155.0					4																	121957628		2203	4300	6503	SO:0001583	missense	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.1498C>A	4.37:g.121957628G>T	ENSP00000369014:p.Gln500Lys		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.Q500K	ENST00000379692.4	37	c.1498	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	G	13.16	2.155129	0.38021	.	.	ENSG00000173376	ENST00000379692	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.67711	0.2922	L	0.47716	1.5	0.80722	D	1	P	0.44195	0.828	P	0.49752	0.621	T	0.60535	-0.7244	9	0.29301	T	0.29	-28.3213	20.5568	0.99304	0.0:0.0:1.0:0.0	.	500	Q8TB73	NDNF_HUMAN	K	500	.	ENSP00000369014:Q500K	Q	-	1	0	NDNF	122177078	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.876000	0.87215	2.861000	0.98227	0.655000	0.94253	CAA	NDNF	-	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	ENSG00000173376		0.398	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	-	0.00	78	0	G	NM_024574		121957628	-1	tier1	-	no_errors	ENST00000379692	ensembl	human	known	74_37	missense	34.67	49	26	SNP	1.000	T
NIPBL	25836	genome.wustl.edu	37	5	36972125	36972125	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:36972125A>T	ENST00000282516.8	+	8	1349	c.850A>T	c.(850-852)Agt>Tgt	p.S284C	NIPBL_ENST00000448238.2_Missense_Mutation_p.S284C|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	284					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCCTGCTGGAAGTGAAGGAAC	0.358																																																	0													70.0	67.0	68.0					5																	36972125		2203	4300	6503	SO:0001583	missense	0			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.850A>T	5.37:g.36972125A>T	ENSP00000282516:p.Ser284Cys		Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S284C	ENST00000282516.8	37	c.850	CCDS3920.1	5	.	.	.	.	.	.	.	.	.	.	A	24.5	4.541822	0.85917	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95518	-3.72;-3.73	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95351	0.8491	L	0.27053	0.805	0.47949	D	0.999556	D;D	0.71674	0.997;0.998	P;P	0.62740	0.808;0.906	D	0.96176	0.9127	10	0.66056	D	0.02	.	15.8096	0.78547	1.0:0.0:0.0:0.0	.	284;284	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	284	ENSP00000282516:S284C;ENSP00000406266:S284C	ENSP00000282516:S284C	S	+	1	0	NIPBL	37007882	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.645000	0.91049	2.127000	0.65507	0.533000	0.62120	AGT	NIPBL	-	NULL	ENSG00000164190		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPBL	HGNC	protein_coding	OTTHUMT00000207582.1	-	0.00	66	0	A	NM_015384		36972125	+1	tier1	-	no_errors	ENST00000282516	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	T
NOXO1	124056	genome.wustl.edu	37	16	2030148	2030148	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:2030148G>C	ENST00000397280.4	-	5	454	c.451C>G	c.(451-453)Ctt>Gtt	p.L151V	NOXO1_ENST00000354249.4_Missense_Mutation_p.L145V|NOXO1_ENST00000356120.4_Missense_Mutation_p.L146V|TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.L150V|AC005606.1_ENST00000598236.1_5'Flank			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	151					extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GCGCGAGAAAGAGGCTGCTCC	0.672																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0													13.0	18.0	16.0					16																	2030148		2186	4293	6479	SO:0001583	missense	0			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.451C>G	16.37:g.2030148G>C	ENSP00000380450:p.Leu151Val		Q86YM1|Q8NFA3|Q96B73	Missense_Mutation	SNP	pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.L151V	ENST00000397280.4	37	c.451	CCDS42101.1	16	.	.	.	.	.	.	.	.	.	.	G	4.875	0.162569	0.09287	.	.	ENSG00000196408	ENST00000354249;ENST00000356120;ENST00000397280	T;T;T	0.70045	-0.45;-0.45;-0.45	4.29	-1.99	0.07457	Src homology-3 domain (1);	2.420760	0.01052	N	0.004485	T	0.59445	0.2194	L	0.51422	1.61	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.30504	-0.9976	10	0.27082	T	0.32	.	7.8725	0.29573	0.2132:0.2206:0.5662:0.0	.	150;145;146;151	Q8NFA2-2;Q8NFA2-4;Q8NFA2-3;Q8NFA2	.;.;.;NOXO1_HUMAN	V	145;146;151	ENSP00000346195:L145V;ENSP00000348435:L146V;ENSP00000380450:L151V	ENSP00000346195:L145V	L	-	1	0	NOXO1	1970149	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.300000	0.19156	-0.511000	0.06514	-2.178000	0.00318	CTT	NOXO1	-	superfamily_SH3_domain	ENSG00000196408		0.672	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOXO1	HGNC	protein_coding	OTTHUMT00000250612.1	-	0.00	19	0	G			2030148	-1	tier1	-	no_errors	ENST00000397280	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	C
NPR1	4881	genome.wustl.edu	37	1	153660146	153660146	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:153660146C>T	ENST00000368680.3	+	14	2601	c.2129C>T	c.(2128-2130)gCt>gTt	p.A710V		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	710	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCGAATGGCTTCACCCCCT	0.602																																					Pancreas(141;1349 1870 15144 15830 40702)												0													98.0	94.0	96.0					1																	153660146		2203	4300	6503	SO:0001583	missense	0			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2129C>T	1.37:g.153660146C>T	ENSP00000357669:p.Ala710Val		B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.A710V	ENST00000368680.3	37	c.2129	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872617	0.51695	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	D	0.82803	-1.65	4.09	4.09	0.47781	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.155161	0.42548	D	0.000687	T	0.69360	0.3102	L	0.35288	1.05	0.80722	D	1	B;B	0.27559	0.08;0.181	B;B	0.40329	0.158;0.326	T	0.68655	-0.5351	10	0.34782	T	0.22	.	9.4235	0.38565	0.2121:0.7879:0.0:0.0	.	189;710	B7Z4Y7;P16066	.;ANPRA_HUMAN	V	710;189	ENSP00000357669:A710V	ENSP00000357669:A710V	A	+	2	0	NPR1	151926770	0.971000	0.33674	0.998000	0.56505	0.891000	0.51852	2.405000	0.44548	2.287000	0.76781	0.455000	0.32223	GCT	NPR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000169418		0.602	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	-	0.00	54	0	C	NM_000906		153660146	+1	tier1	-	no_errors	ENST00000368680	ensembl	human	known	74_37	missense	30.51	40	18	SNP	0.985	T
NPY6R	4888	genome.wustl.edu	37	5	137144064	137144064	+	RNA	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:137144064T>C	ENST00000510937.1	+	0	612					NR_002713.3		Q99463	NPY6R_HUMAN	neuropeptide Y receptor Y6 (pseudogene)							integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)										GAAACCTCTCTCTCATCATCA	0.418																																																	0																																												0			D86519		5q31.2	2013-03-26			ENSG00000226306	ENSG00000226306		"""GPCR / Class A : Neuropeptide receptors : Y"""	7959	pseudogene	pseudogene		601770				8910373, 8910290	Standard	NR_002713		Approved	PP2, NPY1RL, NPY6RP	uc011cyf.2	Q99463	OTTHUMG00000163236		5.37:g.137144064T>C			D3DQB4	RNA	SNP	-	NULL	ENST00000510937.1	37	NULL		5																																																																																			NPY6R	-	-	ENSG00000226306		0.418	NPY6R-003	KNOWN	basic	processed_transcript	NPY6R	HGNC	pseudogene	OTTHUMT00000373630.1	-	0.00	69	0	T			137144064	+1	tier1	-	no_errors	ENST00000510937	ensembl	human	known	74_37	rna	35.82	43	24	SNP	0.948	C
NUP58	9818	genome.wustl.edu	37	13	25923823	25923823	+	IGR	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:25923823C>T								NUPL1 (7279 upstream) : ATP8A2 (22385 downstream)																							TAAGGAACTTCTAATTCTCAT	0.313																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.25923823C>T				RNA	SNP	-	NULL		37	NULL		13																																																																																			NUPL1	-	-	ENSG00000139496	0	0.313					NUPL1	HGNC			-	0.00	38	0	C			25923823	+1	tier1	-	no_errors	ENST00000477876	ensembl	human	known	74_37	rna	16.67	30	6	SNP	0.105	T
OCA2	4948	genome.wustl.edu	37	15	28116298	28116298	+	Splice_Site	SNP	A	A	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:28116298A>C	ENST00000354638.3	-	21	2400		c.e21+1		OCA2_ENST00000353809.5_Splice_Site	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II						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)		TGTGCAACTCACCATGGTAGC	0.592									Oculocutaneous Albinism																																								0													146.0	110.0	122.0					15																	28116298		2203	4300	6503	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.2244+1T>G	15.37:g.28116298A>C			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	SNP	-	e20+2	ENST00000354638.3	37	c.2244+2	CCDS10020.1	15	.	.	.	.	.	.	.	.	.	.	A	13.26	2.183227	0.38511	.	.	ENSG00000104044	ENST00000354638;ENST00000353809	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1556	0.54074	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OCA2	25789893	1.000000	0.71417	1.000000	0.80357	0.042000	0.13812	8.096000	0.89537	2.174000	0.68829	0.533000	0.62120	.	OCA2	-	-	ENSG00000104044		0.592	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OCA2	HGNC	protein_coding	OTTHUMT00000250823.1	-	0.00	38	0	A	NM_000275	Intron	28116298	-1	tier1	-	no_errors	ENST00000354638	ensembl	human	known	74_37	splice_site	36.67	19	11	SNP	1.000	C
OR2B6	26212	genome.wustl.edu	37	6	27925834	27925834	+	Missense_Mutation	SNP	G	G	C	rs369732488		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:27925834G>C	ENST00000244623.1	+	1	816	c.816G>C	c.(814-816)aaG>aaC	p.K272N		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAGGAAAGATGGTTTCTC	0.448																																																	0													125.0	119.0	121.0					6																	27925834		2203	4300	6503	SO:0001583	missense	0			U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.816G>C	6.37:g.27925834G>C	ENSP00000244623:p.Lys272Asn		O43883|Q6IF89|Q9H5B0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K272N	ENST00000244623.1	37	c.816	CCDS4642.1	6	.	.	.	.	.	.	.	.	.	.	g	14.86	2.661879	0.47572	.	.	ENSG00000124657	ENST00000244623	T	0.00207	8.55	3.82	1.95	0.26073	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35262	U	0.003331	T	0.00300	0.0009	M	0.91920	3.255	0.27662	N	0.947057	D	0.89917	1.0	D	0.97110	1.0	T	0.22173	-1.0224	10	0.87932	D	0	.	8.7235	0.34456	0.2049:0.0:0.7951:0.0	.	272	P58173	OR2B6_HUMAN	N	272	ENSP00000244623:K272N	ENSP00000244623:K272N	K	+	3	2	OR2B6	28033813	0.000000	0.05858	0.970000	0.41538	0.769000	0.43574	-0.572000	0.05881	0.322000	0.23283	0.591000	0.81541	AAG	OR2B6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000124657		0.448	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B6	HGNC	protein_coding	OTTHUMT00000040165.1	-	0.00	57	0	G			27925834	+1	tier1	-	no_errors	ENST00000244623	ensembl	human	known	74_37	missense	27.12	43	16	SNP	0.909	C
OR4A47	403253	genome.wustl.edu	37	11	48510440	48510440	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:48510440C>G	ENST00000446524.1	+	1	172	c.96C>G	c.(94-96)ttC>ttG	p.F32L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TCTTGCTCTTCTACATTTTGA	0.438																																																	0													35.0	33.0	33.0					11																	48510440		2200	4278	6478	SO:0001583	missense	0			BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.96C>G	11.37:g.48510440C>G	ENSP00000412752:p.Phe32Leu			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F32L	ENST00000446524.1	37	c.96	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	6.283	0.420259	0.11928	.	.	ENSG00000237388	ENST00000446524	T	0.00625	6.14	4.91	2.95	0.34219	.	0.515052	0.17653	N	0.166624	T	0.00412	0.0013	N	0.05177	-0.1	0.26906	N	0.967016	B	0.23128	0.08	B	0.20767	0.031	T	0.43228	-0.9404	10	0.17832	T	0.49	.	7.7661	0.28980	0.1604:0.7512:0.0:0.0884	.	32	Q6IF82	O4A47_HUMAN	L	32	ENSP00000412752:F32L	ENSP00000412752:F32L	F	+	3	2	OR4A47	48467016	0.000000	0.05858	0.021000	0.16686	0.053000	0.15095	-1.819000	0.01716	1.056000	0.40484	0.561000	0.74099	TTC	OR4A47	-	prints_GPCR_Rhodpsn	ENSG00000237388		0.438	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	-	0.00	92	0	C	NM_001005512		48510440	+1	tier1	-	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	10.00	63	7	SNP	0.803	G
OR4A15	81328	genome.wustl.edu	37	11	55135831	55135831	+	Missense_Mutation	SNP	C	C	G	rs151248769		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:55135831C>G	ENST00000314706.3	+	1	472	c.472C>G	c.(472-474)Ctt>Gtt	p.L158V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTGTAAGCCTCTTCATGAATT	0.418																																																	0													218.0	200.0	206.0					11																	55135831		2201	4296	6497	SO:0001583	missense	0			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.472C>G	11.37:g.55135831C>G	ENSP00000325065:p.Leu158Val		Q6IFL4|Q96R65	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L158V	ENST00000314706.3	37	c.472	CCDS31500.1	11	.	.	.	.	.	.	.	.	.	.	c	10.49	1.364295	0.24684	.	.	ENSG00000181958	ENST00000314706	T	0.01484	4.84	3.48	0.406	0.16366	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41605	D	0.000841	T	0.13798	0.0334	H	0.97983	4.12	0.09310	N	0.999996	D	0.76494	0.999	D	0.72338	0.977	T	0.05699	-1.0869	10	0.87932	D	0	.	6.4465	0.21879	0.0:0.5438:0.0:0.4562	.	158	Q8NGL6	O4A15_HUMAN	V	158	ENSP00000325065:L158V	ENSP00000325065:L158V	L	+	1	0	OR4A15	54892407	0.016000	0.18221	0.019000	0.16419	0.283000	0.27025	0.223000	0.17719	0.197000	0.20387	0.492000	0.49549	CTT	OR4A15	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000181958		0.418	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A15	HGNC	protein_coding	OTTHUMT00000391161.1	-	0.00	114	0	C	NM_001005275		55135831	+1	tier1	-	no_errors	ENST00000314706	ensembl	human	known	74_37	missense	14.73	110	19	SNP	0.228	G
OR4N2	390429	genome.wustl.edu	37	14	20295854	20295854	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:20295854G>A	ENST00000315947.1	+	1	247	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	OR4N2_ENST00000568211.1_Missense_Mutation_p.V83M	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATGTTGGTGGACTTCCT	0.522																																																	0													145.0	167.0	159.0					14																	20295854		2203	4300	6503	SO:0001583	missense	0				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.247G>A	14.37:g.20295854G>A	ENSP00000319601:p.Val83Met		Q6IEY9|Q6IFA2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V83M	ENST00000315947.1	37	c.247	CCDS32022.1	14	.	.	.	.	.	.	.	.	.	.	.	13.39	2.223438	0.39300	.	.	ENSG00000176294	ENST00000557677;ENST00000315947	T;T	0.00397	7.57;7.57	4.3	2.37	0.29283	GPCR, rhodopsin-like superfamily (1);	0.153839	0.30260	N	0.010034	T	0.00412	0.0013	M	0.66378	2.025	0.09310	N	1	P	0.40376	0.715	P	0.47206	0.541	T	0.40720	-0.9548	10	0.56958	D	0.05	-5.3503	4.5407	0.12056	0.1066:0.0:0.4952:0.3982	.	83	Q8NGD1	OR4N2_HUMAN	M	83	ENSP00000452022:V83M;ENSP00000319601:V83M	ENSP00000319601:V83M	V	+	1	0	OR4N2	19365694	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-1.229000	0.02945	1.090000	0.41315	0.591000	0.81541	GTG	OR4N2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000176294		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N2	HGNC	protein_coding	OTTHUMT00000409821.2	-	0.00	299	0	G			20295854	+1	tier1	-	no_errors	ENST00000315947	ensembl	human	known	74_37	missense	26.35	259	93	SNP	0.251	A
OR4K14	122740	genome.wustl.edu	37	14	20482578	20482578	+	Missense_Mutation	SNP	A	A	C	rs200567872		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:20482578A>C	ENST00000305045.2	-	1	774	c.775T>G	c.(775-777)Tat>Gat	p.Y259D		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCCGCACATAAACAAAAATG	0.458																																																	0													104.0	89.0	94.0					14																	20482578		2203	4300	6503	SO:0001583	missense	0				CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.775T>G	14.37:g.20482578A>C	ENSP00000305011:p.Tyr259Asp		Q6IEU1|Q96R71	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y259D	ENST00000305045.2	37	c.775	CCDS32027.1	14	.	.	.	.	.	.	.	.	.	.	.	14.47	2.545052	0.45280	.	.	ENSG00000169484	ENST00000305045	T	0.00291	8.27	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40640	N	0.001053	T	0.01189	0.0039	H	0.99619	4.66	0.30473	N	0.773167	D	0.56035	0.974	P	0.58130	0.833	T	0.01795	-1.1272	10	0.87932	D	0	.	11.7883	0.52055	1.0:0.0:0.0:0.0	.	259	Q8NGD5	OR4KE_HUMAN	D	259	ENSP00000305011:Y259D	ENSP00000305011:Y259D	Y	-	1	0	OR4K14	19552418	0.967000	0.33354	0.994000	0.49952	0.374000	0.29953	3.694000	0.54742	1.619000	0.50296	0.413000	0.27773	TAT	OR4K14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000169484		0.458	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K14	HGNC	protein_coding	OTTHUMT00000410343.1	-	0.00	42	0	A			20482578	-1	tier1	-	no_errors	ENST00000305045	ensembl	human	known	74_37	missense	49.02	26	25	SNP	0.997	C
OR52E8	390079	genome.wustl.edu	37	11	5878458	5878458	+	Silent	SNP	G	G	A	rs549924845	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:5878458G>A	ENST00000537935.1	-	1	506	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	159						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(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCATGTACAGGCTCCTCAGG	0.507													G|||	10	0.00199681	0.0068	0.0	5008	,	,		18808	0.0		0.0	False		,,,				2504	0.001																0													135.0	147.0	143.0					11																	5878458		2154	4296	6450	SO:0001819	synonymous_variant	0			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.475C>T	11.37:g.5878458G>A			B9EH38	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L159	ENST00000537935.1	37	c.475	CCDS31400.1	11																																																																																			OR52E8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000183269		0.507	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	HGNC	protein_coding	OTTHUMT00000401145.1		0.00	39	0	G	NM_001005168		5878458	-1			no_errors	ENST00000537935	ensembl	human	known	74_37	silent	17.24	24	5	SNP	0.000	A
OR6X1	390260	genome.wustl.edu	37	11	123624707	123624707	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:123624707G>C	ENST00000327930.2	-	1	546	c.520C>G	c.(520-522)Cat>Gat	p.H174D		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAGTAGAAATGACTGATAACA	0.517																																																	0													92.0	93.0	93.0					11																	123624707		2202	4299	6501	SO:0001583	missense	0			AB065510	CCDS31695.1	11q24.1	2012-08-09			ENSG00000221931	ENSG00000221931		"""GPCR / Class A : Olfactory receptors"""	14737	protein-coding gene	gene with protein product							Standard	NM_001005188		Approved		uc010rzy.2	Q8NH79	OTTHUMG00000166011	ENST00000327930.2:c.520C>G	11.37:g.123624707G>C	ENSP00000333724:p.His174Asp		B9EGW9|Q6IFA0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.H174D	ENST00000327930.2	37	c.520	CCDS31695.1	11	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427227	0.62733	.	.	ENSG00000221931	ENST00000327930	T	0.00174	8.62	4.37	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00608	0.0020	M	0.92459	3.31	0.35537	D	0.802754	D	0.69078	0.997	D	0.64776	0.929	T	0.56890	-0.7904	9	0.87932	D	0	-2.5448	8.451	0.32871	0.1928:0.0:0.8072:0.0	.	174	Q8NH79	OR6X1_HUMAN	D	174	ENSP00000333724:H174D	ENSP00000333724:H174D	H	-	1	0	OR6X1	123129917	1.000000	0.71417	0.978000	0.43139	0.979000	0.70002	3.288000	0.51739	0.491000	0.27793	0.650000	0.86243	CAT	OR6X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000221931		0.517	OR6X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6X1	HGNC	protein_coding	OTTHUMT00000387436.1	-	0.00	37	0	G	NM_001005188		123624707	-1	tier1	-	no_errors	ENST00000327930	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.984	C
OR7E24	26648	genome.wustl.edu	37	19	9361752	9361752	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:9361752C>T	ENST00000456448.1	+	1	147	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTTTTTTTTTCCTCAAAAGGT	0.418																																																	0													45.0	47.0	46.0					19																	9361752		1918	4154	6072	SO:0001819	synonymous_variant	0			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.33C>T	19.37:g.9361752C>T			B9EJD9|Q9UPJ1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F11	ENST00000456448.1	37	c.33	CCDS45955.1	19																																																																																			OR7E24	-	NULL	ENSG00000237521		0.418	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7E24	HGNC	protein_coding	OTTHUMT00000449006.1		0.00	83	0	C			9361752	+1			no_errors	ENST00000456448	ensembl	human	known	74_37	silent	5.56	85	5	SNP	0.000	T
OR8I2	120586	genome.wustl.edu	37	11	55860877	55860877	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:55860877C>G	ENST00000302124.2	+	1	125	c.94C>G	c.(94-96)Ctc>Gtc	p.L32V		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	32						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L32I(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTTGATGTTTCTCTTCATTTA	0.403																																																	1	Substitution - Missense(1)	lung(1)											200.0	193.0	196.0					11																	55860877		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.94C>G	11.37:g.55860877C>G	ENSP00000303864:p.Leu32Val		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L32V	ENST00000302124.2	37	c.94	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	C	7.577	0.667926	0.14710	.	.	ENSG00000172154	ENST00000302124	T	0.01902	4.57	4.5	3.58	0.41010	.	0.000000	0.35772	U	0.002997	T	0.15478	0.0373	M	0.93197	3.39	0.34366	D	0.691524	D	0.76494	0.999	D	0.67103	0.949	T	0.34725	-0.9817	10	0.72032	D	0.01	-9.3139	11.3536	0.49602	0.0:0.9083:0.0:0.0917	.	32	Q8N0Y5	OR8I2_HUMAN	V	32	ENSP00000303864:L32V	ENSP00000303864:L32V	L	+	1	0	OR8I2	55617453	0.272000	0.24172	0.058000	0.19502	0.007000	0.05969	0.859000	0.27858	1.025000	0.39708	0.440000	0.28878	CTC	OR8I2	-	prints_GPCR_Rhodpsn	ENSG00000172154		0.403	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding		-	0.00	112	0	C	NM_001003750		55860877	+1	tier1	-	no_errors	ENST00000302124	ensembl	human	known	74_37	missense	34.41	61	32	SNP	0.958	G
PADI1	29943	genome.wustl.edu	37	1	17563814	17563814	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:17563814G>C	ENST00000375471.4	+	12	1411	c.1319G>C	c.(1318-1320)gGt>gCt	p.G440A	PADI1_ENST00000413717.2_5'UTR|PADI1_ENST00000536552.1_Intron|PADI1_ENST00000537499.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	440					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GCCAGGTCCGGTGGGCGGCAG	0.647											OREG0013147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(80;414 1257 4580 27746 50832)												0													81.0	77.0	78.0					1																	17563814		2203	4300	6503	SO:0001583	missense	0			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1319G>C	1.37:g.17563814G>C	ENSP00000364620:p.Gly440Ala	89	A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.G440A	ENST00000375471.4	37	c.1319	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	G	6.750	0.507126	0.12883	.	.	ENSG00000142623	ENST00000375471	T	0.23147	1.92	4.1	3.17	0.36434	Protein-arginine deiminase, C-terminal (1);	0.766622	0.12543	N	0.459712	T	0.24353	0.0590	M	0.77103	2.36	0.09310	N	0.999999	B	0.20368	0.044	B	0.19666	0.026	T	0.37526	-0.9702	10	0.13470	T	0.59	-1.8209	2.792	0.05391	0.1011:0.1853:0.522:0.1915	.	440	Q9ULC6	PADI1_HUMAN	A	440	ENSP00000364620:G440A	ENSP00000364620:G440A	G	+	2	0	PADI1	17436401	0.000000	0.05858	0.201000	0.23476	0.790000	0.44656	0.101000	0.15251	0.932000	0.37266	0.591000	0.81541	GGT	PADI1	-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub	ENSG00000142623		0.647	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	-	0.00	49	0	G	NM_013358		17563814	+1	tier1	-	no_errors	ENST00000375471	ensembl	human	known	74_37	missense	32.35	23	11	SNP	0.004	C
PARM1	25849	genome.wustl.edu	37	4	75959102	75959102	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:75959102C>T	ENST00000307428.7	+	3	991	c.779C>T	c.(778-780)gCc>gTc	p.A260V	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Missense_Mutation_p.A18V	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	260					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						GGCAGCATCGCCGCCATTACC	0.507																																																	0													39.0	44.0	43.0					4																	75959102		2031	4186	6217	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.779C>T	4.37:g.75959102C>T	ENSP00000370224:p.Ala260Val		B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	NULL	p.A260V	ENST00000307428.7	37	c.779	CCDS47077.1	4	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951577	0.53186	.	.	ENSG00000169116	ENST00000513238;ENST00000307428	T;T	0.32753	1.44;1.44	5.76	4.74	0.60224	.	0.113706	0.39274	N	0.001405	T	0.26629	0.0651	N	0.11560	0.145	0.38736	D	0.953783	D	0.59767	0.986	P	0.56474	0.799	T	0.03933	-1.0991	10	0.30854	T	0.27	-31.9578	10.5487	0.45074	0.0:0.8997:0.0:0.1003	.	260	Q6UWI2	PARM1_HUMAN	V	18;260	ENSP00000424276:A18V;ENSP00000370224:A260V	ENSP00000370224:A260V	A	+	2	0	PARM1	76178126	0.867000	0.29959	1.000000	0.80357	0.883000	0.51084	1.809000	0.38922	2.713000	0.92767	0.655000	0.94253	GCC	PARM1	-	NULL	ENSG00000169116		0.507	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARM1	HGNC	protein_coding	OTTHUMT00000362494.1	-	0.00	77	0	C	NM_015393		75959102	+1	tier1	-	no_errors	ENST00000307428	ensembl	human	known	74_37	missense	32.14	38	18	SNP	0.966	T
PDE4D	5144	genome.wustl.edu	37	5	58271511	58271511	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:58271511C>T	ENST00000340635.6	-	14	2161	c.1986G>A	c.(1984-1986)aaG>aaA	p.K662K	PDE4D_ENST00000502484.2_Silent_p.K601K|PDE4D_ENST00000358923.6_Silent_p.K360K|PDE4D_ENST00000360047.5_Silent_p.K526K|PDE4D_ENST00000317118.8_Silent_p.K371K|PDE4D_ENST00000503258.1_Silent_p.K532K|PDE4D_ENST00000507116.1_Silent_p.K598K|PDE4D_ENST00000405755.2_Silent_p.K540K|PDE4D_ENST00000546160.1_Silent_p.K601K	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	662					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	AAGCATTGTGCTTGTCACACA	0.483																																																	0													97.0	101.0	99.0					5																	58271511		2173	4296	6469	SO:0001819	synonymous_variant	0				CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1986G>A	5.37:g.58271511C>T			O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Silent	SNP	pfam_PDEase_catalytic_dom,prints_PDEase	p.K662	ENST00000340635.6	37	c.1986	CCDS47213.1	5																																																																																			PDE4D	-	pfam_PDEase_catalytic_dom	ENSG00000113448		0.483	PDE4D-001	KNOWN	basic|CCDS	protein_coding	PDE4D	HGNC	protein_coding	OTTHUMT00000367940.3	-	0.00	90	0	C			58271511	-1	tier1	-	no_errors	ENST00000340635	ensembl	human	known	74_37	silent	5.97	63	4	SNP	1.000	T
PEX16	9409	genome.wustl.edu	37	11	45936188	45936188	+	Silent	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:45936188G>T	ENST00000378750.5	-	6	751	c.508C>A	c.(508-510)Cgg>Agg	p.R170R	PEX16_ENST00000532681.1_Silent_p.R75R|PEX16_ENST00000241041.3_Silent_p.R170R|PEX16_ENST00000532554.1_5'UTR			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	170					ER-dependent peroxisome organization (GO:0032581)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome membrane (GO:0045046)|protein localization to endoplasmic reticulum (GO:0070972)|protein targeting to peroxisome (GO:0006625)|protein to membrane docking (GO:0022615)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		CGGTTTGACCGCTTCCCCACG	0.592																																																	0													182.0	145.0	158.0					11																	45936188		2203	4299	6502	SO:0001819	synonymous_variant	0			AF118240	CCDS7917.1, CCDS31472.1	11p	2007-12-14			ENSG00000121680	ENSG00000121680			8857	protein-coding gene	gene with protein product		603360				9922452	Standard	NM_057174		Approved		uc001nbt.3	Q9Y5Y5	OTTHUMG00000167005	ENST00000378750.5:c.508C>A	11.37:g.45936188G>T			Q9BWB9	Silent	SNP	pfam_Pex16	p.R170	ENST00000378750.5	37	c.508	CCDS31472.1	11																																																																																			PEX16	-	pfam_Pex16	ENSG00000121680		0.592	PEX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX16	HGNC	protein_coding	OTTHUMT00000392398.1	-	0.00	41	0	G	NM_057174		45936188	-1	tier1	-	no_errors	ENST00000241041	ensembl	human	known	74_37	silent	7.14	52	4	SNP	1.000	T
PHB2	11331	genome.wustl.edu	37	12	7076914	7076914	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:7076914G>T	ENST00000535923.1	-	6	917	c.636C>A	c.(634-636)ttC>ttA	p.F212L	PHB2_ENST00000542912.1_Missense_Mutation_p.F212L|SCARNA12_ENST00000459155.1_RNA|PHB2_ENST00000544134.1_5'Flank|U47924.29_ENST00000606539.1_RNA|PHB2_ENST00000399433.2_Missense_Mutation_p.F212L|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Intron	NM_001144831.1	NP_001138303.1			prohibitin 2											ovary(2)|pancreas(1)	3						TTTCTACCAAGAATTGGGCCC	0.587																																																	0													115.0	124.0	121.0					12																	7076914		1912	4119	6031	SO:0001583	missense	0			AF126021	CCDS53741.1, CCDS58207.1	12p13	2013-03-11			ENSG00000215021	ENSG00000215021			30306	protein-coding gene	gene with protein product		610704				11302691, 9259555	Standard	NM_001144831		Approved	REA, BCAP37, Bap37, p22	uc021quf.1	Q99623	OTTHUMG00000168519	ENST00000535923.1:c.636C>A	12.37:g.7076914G>T	ENSP00000441875:p.Phe212Leu			Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Prohibitin	p.F212L	ENST00000535923.1	37	c.636	CCDS53741.1	12	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111884	0.77210	.	.	ENSG00000215021	ENST00000535923;ENST00000542912;ENST00000399433;ENST00000545167	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.6	1.55	0.23275	.	0.000000	0.85682	U	0.000000	D	0.96439	0.8838	M	0.89904	3.07	0.80722	D	1	D	0.57899	0.981	P	0.60286	0.872	D	0.95132	0.8256	10	0.87932	D	0	-13.4336	7.7512	0.28898	0.3607:0.0:0.6393:0.0	.	212	Q99623	PHB2_HUMAN	L	212;212;212;248	ENSP00000441875:F212L;ENSP00000440317:F212L;ENSP00000382362:F212L;ENSP00000441662:F248L	ENSP00000382362:F212L	F	-	3	2	PHB2	6947175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.536000	0.23129	0.492000	0.27815	0.655000	0.94253	TTC	PHB2	-	pfam_Band_7,prints_Prohibitin	ENSG00000215021		0.587	PHB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHB2	HGNC	protein_coding	OTTHUMT00000400040.3	-	0.00	24	0	G	NM_007273		7076914	-1	tier1	-	no_errors	ENST00000399433	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
PHIP	55023	genome.wustl.edu	37	6	79655907	79655907	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:79655907G>T	ENST00000275034.4	-	38	4608	c.4441C>A	c.(4441-4443)Cct>Act	p.P1481T	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1481					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)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATCGTGTAGGTGTAGAGAAT	0.413																																																	0													209.0	194.0	199.0					6																	79655907		2203	4300	6503	SO:0001583	missense	0			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4441C>A	6.37:g.79655907G>T	ENSP00000275034:p.Pro1481Thr		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.P1481T	ENST00000275034.4	37	c.4441	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	G	7.066	0.567338	0.13560	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.42900	0.96	5.87	4.09	0.47781	.	0.356670	0.27797	N	0.017804	T	0.11793	0.0287	L	0.27053	0.805	0.35862	D	0.827596	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.002	T	0.08310	-1.0728	9	.	.	.	-2.5649	8.3022	0.32021	0.1373:0.0:0.734:0.1287	.	1481;1481	A7J992;Q8WWQ0	.;PHIP_HUMAN	T	1481;207	ENSP00000275034:P1481T	.	P	-	1	0	PHIP	79712626	1.000000	0.71417	0.952000	0.39060	0.390000	0.30446	3.972000	0.56838	0.813000	0.34350	-0.229000	0.12294	CCT	PHIP	-	NULL	ENSG00000146247		0.413	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	-	0.00	63	0	G			79655907	-1	tier1	-	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.988	T
PID1	55022	genome.wustl.edu	37	2	229890405	229890405	+	Silent	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:229890405G>T	ENST00000354069.6	-	3	726	c.696C>A	c.(694-696)atC>atA	p.I232I	PID1_ENST00000482518.2_Intron|PID1_ENST00000392054.3_Silent_p.I230I|PID1_ENST00000409462.1_Silent_p.I150I|PID1_ENST00000392055.3_Silent_p.I199I			Q7Z2X4	PCLI1_HUMAN	phosphotyrosine interaction domain containing 1	232	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cellular response to cytokine stimulus (GO:0071345)|cellular response to fatty acid (GO:0071398)|cellular response to interleukin-6 (GO:0071354)|cellular response to leptin stimulus (GO:0044320)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|mitochondrion morphogenesis (GO:0070584)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of mitochondrial DNA replication (GO:0090298)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of fat cell proliferation (GO:0070346)|positive regulation of gene expression (GO:0010628)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of mitochondrial fusion (GO:0010635)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		TGTTGCTGTGGATCCGCCCGT	0.557																																																	0													98.0	95.0	96.0					2																	229890405		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096636	CCDS2471.1, CCDS42830.1	2q36.3	2007-02-02			ENSG00000153823	ENSG00000153823			26084	protein-coding gene	gene with protein product		612930				17124247, 16815647, 15221005	Standard	NM_001100818		Approved	NYGGF4, FLJ20701	uc002vps.4	Q7Z2X4	OTTHUMG00000133191	ENST00000354069.6:c.696C>A	2.37:g.229890405G>T			B3KU82|Q68CJ2|Q6ZUS3|Q8IXL0|Q9NWP6	Silent	SNP	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.I232	ENST00000354069.6	37	c.696		2																																																																																			PID1	-	smart_PTB/PI_dom	ENSG00000153823		0.557	PID1-005	KNOWN	basic	protein_coding	PID1	HGNC	protein_coding	OTTHUMT00000331810.2	-	0.00	37	0	G	NM_017933		229890405	-1	tier1	-	no_errors	ENST00000354069	ensembl	human	known	74_37	silent	25.81	23	8	SNP	1.000	T
PIK3C3	5289	genome.wustl.edu	37	18	39637872	39637872	+	Silent	SNP	A	A	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:39637872A>T	ENST00000262039.4	+	22	2375	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Silent_p.G248G|PIK3C3_ENST00000398870.3_Silent_p.G700G	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	763	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TAGACTTTGGATATATTTTGG	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													68.0	68.0	68.0					18																	39637872		2203	4300	6503	SO:0001819	synonymous_variant	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2289A>T	18.37:g.39637872A>T			Q15134	Silent	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.G763	ENST00000262039.4	37	c.2289	CCDS11920.1	18																																																																																			PIK3C3	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	ENSG00000078142		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	-	0.00	57	0	A	NM_002647		39637872	+1	tier1	-	no_errors	ENST00000262039	ensembl	human	known	74_37	silent	59.70	27	40	SNP	0.993	T
PIP5KL1	138429	genome.wustl.edu	37	9	130690079	130690079	+	Intron	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:130690079C>T	ENST00000388747.4	-	5	479				PIP5KL1_ENST00000300432.3_5'Flank|PIP5KL1_ENST00000490773.1_Intron	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1							cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						GAGGTCACTGCCCAGGCCTGG	0.711																																																	0													9.0	12.0	11.0					9																	130690079		1513	3508	5021	SO:0001627	intron_variant	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.435-28G>A	9.37:g.130690079C>T			Q8IVS3	RNA	SNP	-	NULL	ENST00000388747.4	37	NULL	CCDS48030.1	9																																																																																			PIP5KL1	-	-	ENSG00000167103		0.711	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	-	0.00	9	0	C	NM_173492		130690079	-1	tier1	-	no_errors	ENST00000492296	ensembl	human	known	74_37	rna	66.67	6	12	SNP	0.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110457161	110457161	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:110457161C>A	ENST00000378402.5	+	38	5167	c.5063C>A	c.(5062-5064)tCt>tAt	p.S1688Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1688	IPT/TIG 9.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCCGTTTCTTCTGCAGGTGTA	0.433										HNSCC(38;0.096)																																							0													139.0	135.0	136.0					8																	110457161		1872	4109	5981	SO:0001583	missense	0			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5063C>A	8.37:g.110457161C>A	ENSP00000367655:p.Ser1688Tyr		Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.S1688Y	ENST00000378402.5	37	c.5063	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929906	0.34096	.	.	ENSG00000205038	ENST00000378402	T	0.78003	-1.14	6.17	3.32	0.38043	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.830686	0.10953	N	0.615819	T	0.74627	0.3741	M	0.66939	2.045	0.09310	N	1	P	0.34826	0.471	B	0.38921	0.285	T	0.67122	-0.5750	10	0.59425	D	0.04	.	3.8562	0.08976	0.3028:0.4733:0.1464:0.0775	.	1688	Q86WI1	PKHL1_HUMAN	Y	1688	ENSP00000367655:S1688Y	ENSP00000367655:S1688Y	S	+	2	0	PKHD1L1	110526337	0.001000	0.12720	0.010000	0.14722	0.985000	0.73830	0.693000	0.25497	0.874000	0.35823	0.655000	0.94253	TCT	PKHD1L1	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000205038		0.433	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	-	0.00	37	0	C	NM_177531		110457161	+1	tier1	-	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	16.39	51	10	SNP	0.009	A
PLEKHA7	144100	genome.wustl.edu	37	11	16872792	16872792	+	Silent	SNP	G	G	A	rs367816429		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:16872792G>A	ENST00000355661.3	-	8	652	c.642C>T	c.(640-642)taC>taT	p.Y214Y	PLEKHA7_ENST00000448080.2_Silent_p.Y214Y|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Silent_p.Y214Y			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	214	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GAGAGATCACGTAGCTGGGCA	0.522																																																	0								G		1,4399	2.1+/-5.4	0,1,2199	112.0	103.0	106.0		642	-6.0	0.8	11		106	0,8588		0,0,4294	no	coding-synonymous	PLEKHA7	NM_175058.4		0,1,6493	AA,AG,GG		0.0,0.0227,0.0077		214/1122	16872792	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	0			BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.642C>T	11.37:g.16872792G>A			B4DK33|B4DWC3|Q86VZ7	Silent	SNP	pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.Y214	ENST00000355661.3	37	c.642	CCDS31434.1	11																																																																																			PLEKHA7	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000166689		0.522	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA7	HGNC	protein_coding	OTTHUMT00000387242.2	-	0.00	53	0	G	NM_175058		16872792	-1	tier1	-	no_errors	ENST00000448080	ensembl	human	known	74_37	silent	28.21	28	11	SNP	0.971	A
PLEKHM1P	440456	genome.wustl.edu	37	17	62796231	62796231	+	RNA	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:62796231T>C	ENST00000582986.1	-	0	1689					NR_024386.1		Q69YJ1	PKHMP_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene						intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)										CTGACAGTTTTCATCCAGGCT	0.617																																																	0																																												0					17q24.1	2012-10-03			ENSG00000214176	ENSG00000214176			35411	pseudogene	pseudogene							Standard	NR_024386		Approved	LOC440456	uc002jew.4	Q69YJ1	OTTHUMG00000179296		17.37:g.62796231T>C				RNA	SNP	-	NULL	ENST00000582986.1	37	NULL		17																																																																																			PLEKHM1P	-	-	ENSG00000214176		0.617	PLEKHM1P-002	KNOWN	basic	processed_transcript	PLEKHM1P	HGNC	pseudogene	OTTHUMT00000445598.1	-	0.00	56	0	T	NR_024386		62796231	-1	tier1	-	no_errors	ENST00000578036	ensembl	human	known	74_37	rna	10.71	50	6	SNP	0.152	C
PLXND1	23129	genome.wustl.edu	37	3	129325128	129325128	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:129325128G>A	ENST00000324093.4	-	1	533	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	PLXND1_ENST00000393239.1_Missense_Mutation_p.R119C	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	119	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCCGTGAGGCGCCGCGGGTGC	0.711																																					Ovarian(97;366 1484 3738 22084 39045)												0													5.0	6.0	6.0					3																	129325128		2052	4047	6099	SO:0001583	missense	0			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.355C>T	3.37:g.129325128G>A	ENSP00000317128:p.Arg119Cys		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.R119C	ENST00000324093.4	37	c.355	CCDS33854.1	3	.	.	.	.	.	.	.	.	.	.	g	15.28	2.788049	0.49997	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.11063	2.81;2.81	3.22	2.21	0.28008	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.761144	0.11692	U	0.538742	T	0.14356	0.0347	L	0.46157	1.445	0.37972	D	0.933313	D	0.65815	0.995	P	0.48901	0.594	T	0.22765	-1.0207	10	0.56958	D	0.05	.	9.2208	0.37375	0.0:0.1551:0.6906:0.1543	.	119	Q9Y4D7	PLXD1_HUMAN	C	119	ENSP00000317128:R119C;ENSP00000376931:R119C	ENSP00000317128:R119C	R	-	1	0	PLXND1	130807818	1.000000	0.71417	1.000000	0.80357	0.710000	0.40934	1.794000	0.38774	1.653000	0.50694	0.299000	0.19835	CGC	PLXND1	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom	ENSG00000004399		0.711	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXND1	HGNC	protein_coding	OTTHUMT00000356132.4	-	0.00	18	0	G	NM_015103		129325128	-1	tier1	-	no_errors	ENST00000324093	ensembl	human	known	74_37	missense	30.77	9	4	SNP	0.964	A
PPFIBP2	8495	genome.wustl.edu	37	11	7618827	7618827	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:7618827G>A	ENST00000299492.4	+	5	797	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	PPFIBP2_ENST00000528883.1_Missense_Mutation_p.E25K|PPFIBP2_ENST00000533792.1_5'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	137					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGCCCAGGGAGAAAAGATTCG	0.522																																																	0													74.0	68.0	70.0					11																	7618827		2201	4296	6497	SO:0001583	missense	0			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.409G>A	11.37:g.7618827G>A	ENSP00000299492:p.Glu137Lys		B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E137K	ENST00000299492.4	37	c.409	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.565807	0.96540	.	.	ENSG00000166387	ENST00000299492;ENST00000527790;ENST00000541115;ENST00000528883	T;T;T	0.51325	0.71;0.71;0.71	5.5	5.5	0.81552	.	0.172294	0.39759	N	0.001266	T	0.66086	0.2754	M	0.72353	2.195	0.80722	D	1	P;P;D;D	0.61697	0.895;0.872;0.99;0.983	P;B;P;P	0.61800	0.573;0.22;0.894;0.787	T	0.68988	-0.5264	10	0.72032	D	0.01	-22.0572	16.8778	0.86056	0.0:0.0:1.0:0.0	.	25;25;60;137	E9PK77;B7Z433;F5GWB0;Q8ND30	.;.;.;LIPB2_HUMAN	K	137;137;60;25	ENSP00000299492:E137K;ENSP00000434981:E137K;ENSP00000435469:E25K	ENSP00000299492:E137K	E	+	1	0	PPFIBP2	7575403	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.464000	0.97655	2.600000	0.87896	0.655000	0.94253	GAA	PPFIBP2	-	NULL	ENSG00000166387		0.522	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	-	0.00	55	0	G	NM_003621		7618827	+1	tier1	-	no_errors	ENST00000299492	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	A
PRDM8	56978	genome.wustl.edu	37	4	81123458	81123458	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:81123458A>T	ENST00000504452.1	+	8	1681	c.842A>T	c.(841-843)cAg>cTg	p.Q281L	PRDM8_ENST00000339711.4_Missense_Mutation_p.Q281L|PRDM8_ENST00000415738.2_Missense_Mutation_p.Q281L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	281	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCCCCAGCCCAGAGCCTCAgc	0.721											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													10.0	13.0	12.0					4																	81123458		1548	3604	5152	SO:0001583	missense	0			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.842A>T	4.37:g.81123458A>T	ENSP00000423985:p.Gln281Leu	1203	A8K7X2|Q6IQ36	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q281L	ENST00000504452.1	37	c.842	CCDS43243.1	4	.	.	.	.	.	.	.	.	.	.	A	15.49	2.849078	0.51270	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.62788	-0.0;0.58;-0.0;-0.0	4.39	-0.295	0.12828	.	0.444366	0.16465	N	0.213245	T	0.34106	0.0886	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.12156	0.007	T	0.13072	-1.0523	10	0.30078	T	0.28	.	5.644	0.17579	0.2371:0.513:0.2499:0.0	.	281	Q9NQV8	PRDM8_HUMAN	L	281	ENSP00000423985:Q281L;ENSP00000425149:Q281L;ENSP00000339764:Q281L;ENSP00000406998:Q281L	ENSP00000339764:Q281L	Q	+	2	0	PRDM8	81342482	0.044000	0.20184	0.008000	0.14137	0.745000	0.42441	0.082000	0.14847	-0.296000	0.08947	0.260000	0.18958	CAG	PRDM8	-	NULL	ENSG00000152784		0.721	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRDM8	HGNC	protein_coding	OTTHUMT00000362793.1	-	0.00	12	0	A			81123458	+1	tier1	-	no_errors	ENST00000339711	ensembl	human	known	74_37	missense	25.00	15	5	SNP	0.001	T
PRDX4	10549	genome.wustl.edu	37	X	23685653	23685653	+	5'UTR	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:23685653C>G	ENST00000379341.4	+	0	91				PRDX4_ENST00000495599.1_3'UTR|PRDX4_ENST00000379331.3_5'Flank	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4						4-hydroxyproline metabolic process (GO:0019471)|cell redox homeostasis (GO:0045454)|extracellular matrix organization (GO:0030198)|I-kappaB phosphorylation (GO:0007252)|male gonad development (GO:0008584)|negative regulation of male germ cell proliferation (GO:2000255)|protein maturation by protein folding (GO:0022417)|reactive oxygen species metabolic process (GO:0072593)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	thioredoxin peroxidase activity (GO:0008379)			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						AAGCGGCGCTCGCGCCAAGGG	0.736																																																	0													2.0	3.0	3.0					X																	23685653		1710	3411	5121	SO:0001623	5_prime_UTR_variant	0			U25182	CCDS14206.1	Xp22.11	2012-09-20			ENSG00000123131	ENSG00000123131			17169	protein-coding gene	gene with protein product		300927				9388242	Standard	XM_005274438		Approved	AOE37-2	uc004dam.3	Q13162	OTTHUMG00000021253	ENST00000379341.4:c.-35C>G	X.37:g.23685653C>G			Q6FHT3	RNA	SNP	-	NULL	ENST00000379341.4	37	NULL	CCDS14206.1	X																																																																																			PRDX4	-	-	ENSG00000123131		0.736	PRDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX4	HGNC	protein_coding	OTTHUMT00000056049.1	-	0.00	8	0	C	NM_006406		23685653	+1	tier1	-	no_errors	ENST00000495599	ensembl	human	known	74_37	rna	70.00	3	7	SNP	0.000	G
PREPL	9581	genome.wustl.edu	37	2	44559648	44559648	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:44559648C>T	ENST00000409936.1	-	9	1740	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	PREPL_ENST00000378520.3_Intron|PREPL_ENST00000409957.1_Missense_Mutation_p.D346N|PREPL_ENST00000409272.1_Missense_Mutation_p.D435N|PREPL_ENST00000410081.1_Missense_Mutation_p.D435N|PREPL_ENST00000541738.1_Missense_Mutation_p.D346N|PREPL_ENST00000409411.1_Missense_Mutation_p.D346N|PREPL_ENST00000260648.6_Missense_Mutation_p.D435N|PREPL_ENST00000378511.3_Missense_Mutation_p.D373N	NM_001171606.1	NP_001165077.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	435						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTGATTGGGTCTTCATGCCCA	0.423																																																	0													162.0	143.0	149.0					2																	44559648		2203	4300	6503	SO:0001583	missense	0			AB007896	CCDS33190.1, CCDS42675.1, CCDS42676.1, CCDS54353.1	2p22.1	2008-02-05			ENSG00000138078	ENSG00000138078			30228	protein-coding gene	gene with protein product		609557				11524703	Standard	NM_006036		Approved	KIAA0436	uc002ruk.2	Q4J6C6	OTTHUMG00000152791	ENST00000409936.1:c.1303G>A	2.37:g.44559648C>T	ENSP00000386543:p.Asp435Asn		A7E2X6|D6W5A3|O43163|Q4J6C3|Q4J6C4|Q4ZG39|Q6ZMW7|Q96DW7	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A	p.D435N	ENST00000409936.1	37	c.1303	CCDS33190.1	2	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843472	0.51057	.	.	ENSG00000138078	ENST00000541738;ENST00000409411;ENST00000409957;ENST00000409936;ENST00000260648;ENST00000409272;ENST00000410081;ENST00000378511	.	.	.	5.55	5.55	0.83447	.	0.772477	0.12498	N	0.463637	T	0.50411	0.1614	N	0.08118	0	0.40676	D	0.982263	D;B	0.64830	0.994;0.033	D;B	0.63488	0.915;0.04	T	0.36720	-0.9736	9	0.02654	T	1	-18.3834	19.4923	0.95056	0.0:1.0:0.0:0.0	.	373;435	Q4J6C6-3;Q4J6C6	.;PPCEL_HUMAN	N	346;346;346;435;435;435;435;373	.	ENSP00000260648:D435N	D	-	1	0	PREPL	44413152	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.281000	0.58965	2.612000	0.88384	0.555000	0.69702	GAC	PREPL	-	NULL	ENSG00000138078		0.423	PREPL-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PREPL	HGNC	protein_coding	OTTHUMT00000327900.1	-	0.00	85	0	C	NM_006036		44559648	-1	tier1	-	no_errors	ENST00000260648	ensembl	human	known	74_37	missense	34.67	49	26	SNP	1.000	T
PRX	57716	genome.wustl.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																																	0																																										SO:0001651	inframe_deletion	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1361in_frame_del	ENST00000324001.7	37	c.4079_4077	CCDS33028.1	19																																																																																			PRX	-	NULL	ENSG00000105227		0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1		0.00	26	0	TCC	NM_020956		40900182	-1	tier1		no_errors	ENST00000324001	ensembl	human	known	74_37	in_frame_del	10.34	26	3	DEL	0.908:0.904:0.008	-
PSME4	23198	genome.wustl.edu	37	2	54119985	54119985	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:54119985G>A	ENST00000404125.1	-	36	4206	c.4151C>T	c.(4150-4152)gCt>gTt	p.A1384V	PSME4_ENST00000421748.2_Missense_Mutation_p.A528V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1384					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GATTAAACCAGCTATAATTTC	0.383																																																	0													112.0	110.0	110.0					2																	54119985		2203	4300	6503	SO:0001583	missense	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.4151C>T	2.37:g.54119985G>A	ENSP00000384211:p.Ala1384Val		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	pfam_DUF3437,superfamily_ARM-type_fold	p.A1384V	ENST00000404125.1	37	c.4151	CCDS33197.2	2	.	.	.	.	.	.	.	.	.	.	G	34	5.385450	0.95967	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.66460	-0.21;-0.21	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.051665	0.85682	D	0.000000	D	0.83184	0.5199	M	0.84082	2.675	0.80722	D	1	D;D;D	0.69078	0.997;0.992;0.995	D;D;P	0.66716	0.946;0.933;0.849	D	0.85532	0.1210	10	0.72032	D	0.01	.	19.0749	0.93156	0.0:0.0:1.0:0.0	.	759;528;1384	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	V	528;1384	ENSP00000410830:A528V;ENSP00000384211:A1384V	ENSP00000384211:A1384V	A	-	2	0	PSME4	53973489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.527000	0.85204	0.555000	0.69702	GCT	PSME4	-	superfamily_ARM-type_fold	ENSG00000068878		0.383	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME4	HGNC	protein_coding	OTTHUMT00000324163.1		0.00	78	0	G	XM_040158		54119985	-1			no_errors	ENST00000404125	ensembl	human	known	74_37	missense	7.02	53	4	SNP	1.000	A
PTPN21	11099	genome.wustl.edu	37	14	88951473	88951473	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:88951473G>T	ENST00000556564.1	-	12	1309	c.1025C>A	c.(1024-1026)cCa>cAa	p.P342Q	PTPN21_ENST00000328736.3_Missense_Mutation_p.P342Q	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	342	Poly-Pro.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACTGCGGTGGGGGAGGCAT	0.423																																																	0													131.0	120.0	124.0					14																	88951473		2203	4300	6503	SO:0001583	missense	0			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1025C>A	14.37:g.88951473G>T	ENSP00000452414:p.Pro342Gln			Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.P342Q	ENST00000556564.1	37	c.1025	CCDS9884.1	14	.	.	.	.	.	.	.	.	.	.	G	15.47	2.841683	0.51057	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.82167	-1.58;-1.58	5.49	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.88328	0.6407	L	0.52364	1.645	0.38597	D	0.950563	D	0.89917	1.0	D	0.91635	0.999	D	0.88770	0.3263	10	0.39692	T	0.17	.	16.0668	0.80887	0.0:0.0:0.8649:0.1351	.	342	Q16825	PTN21_HUMAN	Q	342	ENSP00000330276:P342Q;ENSP00000452414:P342Q	ENSP00000330276:P342Q	P	-	2	0	PTPN21	88021226	1.000000	0.71417	0.974000	0.42286	0.117000	0.20001	6.016000	0.70798	1.437000	0.47472	0.655000	0.94253	CCA	PTPN21	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000070778		0.423	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN21	HGNC	protein_coding	OTTHUMT00000410303.1	-	0.00	70	0	G			88951473	-1	tier1	-	no_errors	ENST00000328736	ensembl	human	known	74_37	missense	17.20	77	16	SNP	1.000	T
PTPRU	10076	genome.wustl.edu	37	1	29606106	29606106	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:29606106C>T	ENST00000345512.3	+	10	1831	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PTPRU_ENST00000373779.3_Missense_Mutation_p.R568W|PTPRU_ENST00000356870.3_Missense_Mutation_p.R568W|PTPRU_ENST00000460170.2_Missense_Mutation_p.R568W|PTPRU_ENST00000428026.2_Missense_Mutation_p.R568W|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Missense_Mutation_p.R568W	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	568	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GTTCTCCGTGCGGGCCCGCAC	0.622																																																	0													129.0	130.0	130.0					1																	29606106		2203	4300	6503	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.1702C>T	1.37:g.29606106C>T	ENSP00000334941:p.Arg568Trp		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R568W	ENST00000345512.3	37	c.1702	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749015	0.69533	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	5.16	3.03	0.35002	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.81004	0.4733	M	0.93550	3.43	0.58432	D	0.999992	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.86656	0.1901	9	.	.	.	.	14.5597	0.68126	0.2772:0.7228:0.0:0.0	.	568;568;568;568;568	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	W	568	ENSP00000334941:R568W;ENSP00000362884:R568W;ENSP00000349333:R568W;ENSP00000314987:R568W;ENSP00000392332:R568W;ENSP00000432906:R568W	.	R	+	1	2	PTPRU	29478693	1.000000	0.71417	0.999000	0.59377	0.802000	0.45316	3.125000	0.50469	1.137000	0.42214	-0.332000	0.08345	CGG	PTPRU	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060656		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1		0.00	68	0	C			29606106	+1			no_errors	ENST00000345512	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	T
RAB33A	9363	genome.wustl.edu	37	X	129318277	129318277	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:129318277G>A	ENST00000257017.4	+	2	691	c.277G>A	c.(277-279)Gca>Aca	p.A93T		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	93					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTGGGACACAGCAGGTCAGGA	0.473																																																	0													109.0	91.0	97.0					X																	129318277		2203	4300	6503	SO:0001583	missense	0			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.277G>A	X.37:g.129318277G>A	ENSP00000257017:p.Ala93Thr		Q5JUZ6|Q92465	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A93T	ENST00000257017.4	37	c.277	CCDS14621.1	X	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849669	0.91277	.	.	ENSG00000134594	ENST00000257017	D	0.88741	-2.42	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96383	0.8820	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98019	1.0370	10	0.87932	D	0	-7.8912	17.2062	0.86918	0.0:0.0:1.0:0.0	.	93	Q14088	RB33A_HUMAN	T	93	ENSP00000257017:A93T	ENSP00000257017:A93T	A	+	1	0	RAB33A	129145958	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	9.813000	0.99286	2.072000	0.62099	0.429000	0.28392	GCA	RAB33A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000134594		0.473	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	-	0.00	33	0	G	NM_004794		129318277	+1	tier1	-	no_errors	ENST00000257017	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	A
RAB3GAP2	25782	genome.wustl.edu	37	1	220326771	220326771	+	Intron	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:220326771G>T	ENST00000358951.2	-	33	3762					NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GAAAGAGATAGAGCAATGCAT	0.373																																																	0													85.0	85.0	85.0					1																	220326771		2203	4300	6503	SO:0001627	intron_variant	0			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.3646-23C>A	1.37:g.220326771G>T			A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	RNA	SNP	-	NULL	ENST00000358951.2	37	NULL	CCDS31028.1	1																																																																																			RAB3GAP2	-	-	ENSG00000118873		0.373	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	-	0.00	63	0	G	NM_012414		220326771	-1	tier1	-	no_errors	ENST00000474966	ensembl	human	known	74_37	rna	6.15	61	4	SNP	0.000	T
RET	5979	genome.wustl.edu	37	10	43596063	43596063	+	Missense_Mutation	SNP	G	G	A	rs570176656	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:43596063G>A	ENST00000355710.3	+	2	462	c.230G>A	c.(229-231)cGc>cAc	p.R77H	RET_ENST00000340058.5_Missense_Mutation_p.R77H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	77			R -> C (in HSCR1). {ECO:0000269|PubMed:10618407}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R77H(1)|p.R77L(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	GGCACGTACCGCACACGGCTG	0.642		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G|||	2	0.000399361	0.0	0.0	5008	,	,		13227	0.002		0.0	False		,,,				2504	0.0				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)		yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											65.0	54.0	57.0					10																	43596063		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.230G>A	10.37:g.43596063G>A	ENSP00000347942:p.Arg77His		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin	p.R77H	ENST00000355710.3	37	c.230	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	G	8.139	0.784732	0.16189	.	.	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79845	-1.19;-1.31	5.51	3.67	0.42095	.	0.143108	0.47455	D	0.000222	T	0.64305	0.2586	L	0.35414	1.06	0.09310	N	0.999994	B;B	0.32324	0.364;0.273	B;B	0.17722	0.019;0.012	T	0.52041	-0.8628	10	0.30854	T	0.27	.	6.7887	0.23687	0.1475:0.0:0.7108:0.1417	.	77;77	P07949;P07949-2	RET_HUMAN;.	H	77	ENSP00000347942:R77H;ENSP00000344798:R77H	ENSP00000344798:R77H	R	+	2	0	RET	42916069	0.408000	0.25360	0.121000	0.21740	0.008000	0.06430	2.247000	0.43151	0.716000	0.32124	-0.137000	0.14449	CGC	RET	-	pirsf_Tyr_kinase_Ret_rcpt	ENSG00000165731		0.642	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	-	0.00	74	0	G	NM_020975		43596063	+1	tier1	-	no_errors	ENST00000355710	ensembl	human	known	74_37	missense	5.80	65	4	SNP	0.073	A
RIMBP2	23504	genome.wustl.edu	37	12	130921822	130921822	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:130921822G>C	ENST00000261655.4	-	10	1783	c.1620C>G	c.(1618-1620)atC>atG	p.I540M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.I448M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.I448M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	540	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCGTGGGGAAGATGACTTCAG	0.701																																																	0													9.0	9.0	9.0					12																	130921822		2185	4262	6447	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1620C>G	12.37:g.130921822G>C	ENSP00000261655:p.Ile540Met		Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.I540M	ENST00000261655.4	37	c.1620	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425961	0.43020	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.29655	1.56;1.56;1.56	4.91	3.01	0.34805	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.259412	0.37857	N	0.001902	T	0.29223	0.0727	L	0.50919	1.6	0.29319	N	0.867459	B;B;B	0.33266	0.372;0.009;0.404	B;B;B	0.42495	0.315;0.017;0.389	T	0.24190	-1.0167	10	0.44086	T	0.13	-20.0171	2.7521	0.05284	0.153:0.2662:0.4441:0.1367	.	448;448;540	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	M	540;448;448;448	ENSP00000261655:I540M;ENSP00000440347:I448M;ENSP00000439159:I448M	ENSP00000261655:I540M	I	-	3	3	RIMBP2	129487775	0.781000	0.28676	0.758000	0.31321	0.947000	0.59692	0.097000	0.15168	0.449000	0.26747	0.549000	0.68633	ATC	RIMBP2	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000060709		0.701	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1		0.00	19	0	G	NM_015347		130921822	-1			no_errors	ENST00000261655	ensembl	human	known	74_37	missense	33.33	6	3	SNP	0.983	C
ROBO2	6092	genome.wustl.edu	37	3	77671452	77671452	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:77671452C>G	ENST00000461745.1	+	23	4529	c.3629C>G	c.(3628-3630)tCt>tGt	p.S1210C	ROBO2_ENST00000487694.3_Missense_Mutation_p.S1226C|ROBO2_ENST00000332191.8_Missense_Mutation_p.S1210C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1210					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCCTTGATTTCTGATTTGGAA	0.458																																																	0													122.0	122.0	122.0					3																	77671452		1911	4131	6042	SO:0001583	missense	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3629C>G	3.37:g.77671452C>G	ENSP00000417164:p.Ser1210Cys		O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1210C	ENST00000461745.1	37	c.3629	CCDS43109.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.699140|3.699140	0.68501|0.68501	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000475334|ENST00000487694;ENST00000403211;ENST00000461745;ENST00000332191	.|T;T;T	.|0.68331	.|-0.15;-0.11;-0.32	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.41001	.|D	.|0.000970	T|T	0.79528|0.79528	0.4461|0.4461	L|L	0.50333|0.50333	1.59|1.59	.|0.30130	.|N	.|0.80488	.|D;D;D	.|0.89917	.|0.999;1.0;0.999	.|D;D;D	.|0.85130	.|0.984;0.997;0.984	T|T	0.80621|0.80621	-0.1301|-0.1301	4|9	.|0.87932	.|D	.|0	.|.	19.5083|19.5083	0.95130|0.95130	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1226;1210;1210	.|Q19AB5;F8W703;Q9HCK4	.|.;.;ROBO2_HUMAN	L|C	41|1226;1226;1210;1210	.|ENSP00000417335:S1226C;ENSP00000417164:S1210C;ENSP00000327536:S1210C	.|ENSP00000327536:S1210C	F|S	+|+	3|2	2|0	ROBO2|ROBO2	77754142|77754142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.380000|0.380000	0.30137|0.30137	7.487000|7.487000	0.81328|0.81328	2.611000|2.611000	0.88343|0.88343	0.650000|0.650000	0.86243|0.86243	TTC|TCT	ROBO2	-	NULL	ENSG00000185008		0.458	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2	-	0.00	79	0	C	XM_031246		77671452	+1	tier1	-	no_errors	ENST00000461745	ensembl	human	known	74_37	missense	25.53	35	12	SNP	1.000	G
RPL39L	116832	genome.wustl.edu	37	3	186838997	186838997	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:186838997G>T	ENST00000296277.4	-	3	494	c.92C>A	c.(91-93)cCt>cAt	p.P31H	RPL39L_ENST00000433055.1_Missense_Mutation_p.P31H|RPL39L_ENST00000455270.1_Missense_Mutation_p.P31H	NM_052969.1	NP_443201.1	Q96EH5	RL39L_HUMAN	ribosomal protein L39-like	31					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)	structural constituent of ribosome (GO:0003735)					all_cancers(143;2.61e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.87e-18)	GBM - Glioblastoma multiforme(93;0.0745)		TTTACTACCAGGTTTCATCTG	0.438																																																	0													111.0	110.0	111.0					3																	186838997		2203	4300	6503	SO:0001583	missense	0			BC012328	CCDS3286.1	3q27.3	2008-02-01	2002-01-15	2002-01-18	ENSG00000163923	ENSG00000163923		"""L ribosomal proteins"""	17094	protein-coding gene	gene with protein product		607547	"""ribosomal protein L39-like 1"""	RPL39L1			Standard	NM_052969		Approved		uc003fre.1	Q96EH5	OTTHUMG00000156465	ENST00000296277.4:c.92C>A	3.37:g.186838997G>T	ENSP00000296277:p.Pro31His		Q8IUD0	Missense_Mutation	SNP	pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom	p.P31H	ENST00000296277.4	37	c.92	CCDS3286.1	3	.	.	.	.	.	.	.	.	.	.	G	10.06	1.246856	0.22796	.	.	ENSG00000163923	ENST00000455270;ENST00000296277;ENST00000433055	.	.	.	2.13	1.24	0.21308	Ribosomal protein L39e domain (2);Ribosomal protein L39e, conserved site (1);	0.359519	0.18165	U	0.149654	T	0.28001	0.0690	.	.	.	0.23628	N	0.997259	P	0.43477	0.808	B	0.40940	0.344	T	0.13522	-1.0506	8	0.87932	D	0	-23.1447	6.767	0.23573	0.1601:0.0:0.8399:0.0	.	31	Q96EH5	RL39L_HUMAN	H	31	.	ENSP00000296277:P31H	P	-	2	0	RPL39L	188321691	1.000000	0.71417	0.829000	0.32907	0.342000	0.28953	5.535000	0.67173	0.445000	0.26639	-0.218000	0.12543	CCT	RPL39L	-	pfam_Ribosomal_L39,superfamily_Ribosomal_L39e_dom	ENSG00000163923		0.438	RPL39L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL39L	HGNC	protein_coding	OTTHUMT00000344283.2	-	0.00	44	0	G	NM_052969		186838997	-1	tier1	-	no_errors	ENST00000296277	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
INTS6-AS1	100507398	genome.wustl.edu	37	13	52035402	52035402	+	RNA	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:52035402C>A	ENST00000594959.1	+	0	411				INTS6-AS1_ENST00000599315.1_RNA|INTS6-AS1_ENST00000602089.1_RNA|INTS6-AS1_ENST00000593709.1_RNA|INTS6-AS1_ENST00000593928.1_RNA|INTS6-AS1_ENST00000595997.1_RNA|INTS6-AS1_ENST00000594604.1_RNA|INTS6-AS1_ENST00000434512.1_RNA|INTS6-AS1_ENST00000600477.1_RNA|INTS6-AS1_ENST00000596303.1_RNA|INTS6-AS1_ENST00000596050.1_RNA|INTS6-AS1_ENST00000596180.1_RNA|INTS6-AS1_ENST00000594358.1_RNA|INTS6-AS1_ENST00000594488.1_RNA|INTS6-AS1_ENST00000595424.1_RNA|INTS6-AS1_ENST00000598864.1_RNA|INTS6-AS1_ENST00000601318.1_RNA|INTS6-AS1_ENST00000593672.1_RNA|INTS6-AS1_ENST00000601034.1_RNA|INTS6-AS1_ENST00000597745.1_RNA|INTS6-AS1_ENST00000601572.1_RNA|RPS4XP16_ENST00000595905.1_RNA|INTS6-AS1_ENST00000593429.1_RNA|INTS6-AS1_ENST00000595435.1_RNA					INTS6 antisense RNA 1																		TCCGCCTCACCATTGCTGAAG	0.438																																																	0																																												0			AA397528		13q14.3	2012-10-12	2012-08-15		ENSG00000236778	ENSG00000236778		"""Long non-coding RNAs"""	42691	non-coding RNA	RNA, long non-coding			"""INTS6 antisense RNA 1 (non-protein coding)"""				Standard	NR_103812		Approved				OTTHUMG00000016944		13.37:g.52035402C>A				RNA	SNP	-	NULL	ENST00000594959.1	37	NULL		13																																																																																			RPS4XP16	-	-	ENSG00000224892		0.438	INTS6-AS1-006	KNOWN	basic	antisense	RPS4XP16	HGNC	antisense	OTTHUMT00000462289.1	-	0.00	63	0	C			52035402	+1	tier1	-	no_errors	ENST00000595905	ensembl	human	known	74_37	rna	30.43	48	21	SNP	1.000	A
SDHAF2	54949	genome.wustl.edu	37	11	61213450	61213450	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:61213450C>G	ENST00000542074.1	+	2	116	c.74C>G	c.(73-75)tCa>tGa	p.S25*	RN7SL23P_ENST00000484055.2_RNA|SDHAF2_ENST00000537782.1_3'UTR|SDHAF2_ENST00000301761.2_Silent_p.V136V|RP11-286N22.8_ENST00000544880.1_Intron|SDHAF2_ENST00000543265.1_3'UTR|RP11-286N22.8_ENST00000543044.1_Silent_p.V124V					succinate dehydrogenase complex assembly factor 2											large_intestine(3)|lung(4)|ovary(2)	9						AAAATGAAGTCATGGCCCTGC	0.438											OREG0021000	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													86.0	86.0	86.0					11																	61213450		2202	4299	6501	SO:0001587	stop_gained	0			AK000494	CCDS8007.1	11q12.2	2014-09-17	2009-08-10	2009-08-10	ENSG00000167985	ENSG00000167985		"""Mitochondrial respiratory chain complex assembly factors"""	26034	protein-coding gene	gene with protein product		613019	"""paraganglioma or familial glomus tumors 2"", ""chromosome 11 open reading frame 79"""	PGL2, C11orf79		19628817	Standard	NM_017841		Approved	FLJ20487, SDH5	uc001nrt.3	Q9NX18	OTTHUMG00000168279	ENST00000542074.1:c.74C>G	11.37:g.61213450C>G	ENSP00000469670:p.Ser25*	1052		Nonsense_Mutation	SNP	NULL	p.S25*	ENST00000542074.1	37	c.74		11																																																																																			SDHAF2	-	NULL	ENSG00000167985		0.438	SDHAF2-006	PUTATIVE	basic|exp_conf	protein_coding	SDHAF2	HGNC	protein_coding	OTTHUMT00000398439.2	-	0.00	61	0	C	NM_017841		61213450	+1	tier1	-	no_errors	ENST00000542074	ensembl	human	putative	74_37	nonsense	29.85	47	20	SNP	1.000	G
SELL	6402	genome.wustl.edu	37	1	169670639	169670640	+	5'UTR	INS	-	-	T	rs368453171		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:169670639_169670640insT	ENST00000463108.1	-	0	1341_1342				C1orf112_ENST00000498289.1_Intron|SELL_ENST00000236147.4_Intron			P14151	LYAM1_HUMAN	selectin L						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					CTGTGGGTTTCTTTTTTTTTTC	0.361																																																	0																																										SO:0001623	5_prime_UTR_variant	0			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000463108.1:c.-5->A	1.37:g.169670649_169670649dupT			B2R6Q8|P15023|Q9UJ43	RNA	INS	-	NULL	ENST00000463108.1	37	NULL		1																																																																																			SELL	-	-	ENSG00000188404		0.361	SELL-002	KNOWN	basic	processed_transcript	SELL	HGNC	protein_coding	OTTHUMT00000084281.1		0.00	65	0	-	NM_000655		169670640	-1	tier1		no_errors	ENST00000463108	ensembl	human	known	74_37	rna	9.09	40	4	INS	0.134:0.017	T
SERPINA4	5267	genome.wustl.edu	37	14	95029834	95029834	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:95029834C>G	ENST00000557004.1	+	2	436	c.15C>G	c.(13-15)gaC>gaG	p.D5E	SERPINA4_ENST00000298841.5_Missense_Mutation_p.D5E|SERPINA4_ENST00000555095.1_Missense_Mutation_p.D5E|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	5					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ATCTTATCGACTACCTGCTCC	0.557																																																	0													78.0	79.0	79.0					14																	95029834		2203	4300	6503	SO:0001583	missense	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.15C>G	14.37:g.95029834C>G	ENSP00000450838:p.Asp5Glu		Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.D5E	ENST00000557004.1	37	c.15	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	C	6.787	0.514243	0.12944	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.82081	-1.57;-1.57;-1.57	4.18	-0.111	0.13576	Serpin domain (1);	1.757370	0.03729	N	0.253106	T	0.65811	0.2727	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.038	B;B	0.14578	0.011;0.007	T	0.52472	-0.8571	10	0.38643	T	0.18	.	3.8097	0.08792	0.1561:0.4517:0.3033:0.0889	.	5;5	B2R815;P29622	.;KAIN_HUMAN	E	5	ENSP00000450838:D5E;ENSP00000451172:D5E;ENSP00000298841:D5E	ENSP00000298841:D5E	D	+	3	2	SERPINA4	94099587	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.579000	0.23788	-0.263000	0.09378	-0.961000	0.02630	GAC	SERPINA4	-	superfamily_Serpin_dom	ENSG00000100665		0.557	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0.00	34	0	C	NM_006215		95029834	+1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	15.00	51	9	SNP	0.000	G
SERPINA4	5267	genome.wustl.edu	37	14	95029843	95029843	+	Silent	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:95029843C>G	ENST00000557004.1	+	2	445	c.24C>G	c.(22-24)ctC>ctG	p.L8L	SERPINA4_ENST00000298841.5_Silent_p.L8L|SERPINA4_ENST00000555095.1_Silent_p.L8L|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	8					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACTACCTGCTCCTCCTGCTGG	0.547																																																	0													79.0	79.0	79.0					14																	95029843		2203	4300	6503	SO:0001819	synonymous_variant	0			L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.24C>G	14.37:g.95029843C>G			Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.L8	ENST00000557004.1	37	c.24	CCDS9927.1	14																																																																																			SERPINA4	-	superfamily_Serpin_dom	ENSG00000100665		0.547	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	HGNC	protein_coding	OTTHUMT00000410718.1	-	0.00	32	0	C	NM_006215		95029843	+1	tier1	-	no_errors	ENST00000298841	ensembl	human	known	74_37	silent	16.18	57	11	SNP	0.198	G
SERTAD4	56256	genome.wustl.edu	37	1	210407330	210407330	+	Intron	DEL	T	T	-	rs397861918|rs547634859|rs36086035	byFrequency	TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:210407330delT	ENST00000367012.3	+	1	213				SERTAD4-AS1_ENST00000480052.1_RNA|SERTAD4-AS1_ENST00000475406.1_RNA|SERTAD4-AS1_ENST00000437764.1_RNA	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GGAAACTTGGtttttttttta	0.458													|||unknown(HR)	2412	0.481629	0.4682	0.5447	5008	,	,		13850	0.5933		0.3907	False		,,,				2504	0.4335																0																																										SO:0001627	intron_variant	0			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.-18+974T>-	1.37:g.210407330delT			B2RD32	RNA	DEL	-	NULL	ENST00000367012.3	37	NULL	CCDS1494.1	1																																																																																			SERTAD4-AS1	-	-	ENSG00000203706		0.458	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4-AS1	HGNC	protein_coding	OTTHUMT00000088577.1		0.00	9	0	T	NM_019605		210407330	-1	tier1		no_errors	ENST00000437764	ensembl	human	known	74_37	rna	28.57	10	4	DEL	0.837	-
SGK3	23678	genome.wustl.edu	37	8	67753250	67753250	+	Intron	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:67753250A>G	ENST00000396596.1	+	13	1105				SGK3_ENST00000521435.1_Intron|SGK3_ENST00000521198.2_Intron|SGK3_ENST00000522398.1_Intron|SGK3_ENST00000520976.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron|SGK3_ENST00000345714.4_Intron	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3						ion transmembrane transport (GO:0034220)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|phosphatidylinositol binding (GO:0035091)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CTGCCCCTGTATTTGTCAGGG	0.348																																																	0													145.0	128.0	134.0					8																	67753250		2203	4300	6503	SO:0001627	intron_variant	0				CCDS6195.1, CCDS6196.1	8q12	2008-07-28	2005-09-13	2005-09-13		ENSG00000104205			10812	protein-coding gene	gene with protein product		607591	"""serum/glucocorticoid regulated kinase-like"""	SGK2, SGKL		10585774, 10548550	Standard	NM_013257		Approved		uc003xwr.3	Q96BR1		ENST00000396596.1:c.892-9A>G	8.37:g.67753250A>G			A8K5W3|B3KQC2|Q9P1Q7|Q9UKG5	RNA	SNP	-	NULL	ENST00000396596.1	37	NULL	CCDS6195.1	8																																																																																			SGK3	-	-	ENSG00000104205		0.348	SGK3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SGK3	HGNC	protein_coding	OTTHUMT00000379232.3	-	0.00	62	0	A			67753250	+1	tier1	-	no_errors	ENST00000523260	ensembl	human	putative	74_37	rna	41.67	35	25	SNP	0.000	G
SH3PXD2A	9644	genome.wustl.edu	37	10	105386894	105386894	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:105386894T>A	ENST00000369774.4	-	9	946	c.670A>T	c.(670-672)Aat>Tat	p.N224Y	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.N224Y|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.N91Y|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.N86Y|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.N59Y			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	224	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CGAGTACCATTCTGGGCCTCC	0.607																																																	0													111.0	92.0	99.0					10																	105386894		2203	4300	6503	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.670A>T	10.37:g.105386894T>A	ENSP00000358789:p.Asn224Tyr		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.N224Y	ENST00000369774.4	37	c.670		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.54|17.54	3.414371|3.414371	0.62511|0.62511	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T;T	.|0.69806	.|-0.43;1.5;1.5;1.5;1.5	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Src homology-3 domain (3);	.|0.303704	.|0.41500	.|D	.|0.000873	T|T	0.73040|0.73040	0.3536|0.3536	L|L	0.57536|0.57536	1.79|1.79	0.37941|0.37941	D|D	0.932318|0.932318	.|D;P;B;P;D	.|0.57571	.|0.966;0.823;0.12;0.823;0.98	.|P;P;B;P;P	.|0.58721	.|0.702;0.498;0.047;0.498;0.844	T|T	0.78427|0.78427	-0.2208|-0.2208	5|10	.|0.87932	.|D	.|0	-18.5495|-18.5495	8.9119|8.9119	0.35559|0.35559	0.0:0.0846:0.0:0.9154|0.0:0.0846:0.0:0.9154	.|.	.|224;101;86;97;224	.|Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.;.	V|Y	178|86;224;224;59;139;91;59	.|ENSP00000392664:N86Y;ENSP00000358789:N224Y;ENSP00000348215:N224Y;ENSP00000443663:N91Y;ENSP00000441514:N59Y	.|ENSP00000318135:N59Y	E|N	-|-	2|1	0|0	SH3PXD2A|SH3PXD2A	105376884|105376884	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.950000|5.950000	0.70265|0.70265	2.026000|2.026000	0.59711|0.59711	0.459000|0.459000	0.35465|0.35465	GAA|AAT	SH3PXD2A	-	superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	ENSG00000107957		0.607	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	-	0.00	59	0	T	NM_014631		105386894	-1	tier1	-	no_errors	ENST00000369774	ensembl	human	known	74_37	missense	29.63	38	16	SNP	1.000	A
SLC16A4	9122	genome.wustl.edu	37	1	110925488	110925488	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:110925488C>T	ENST00000369779.4	-	3	437	c.188G>A	c.(187-189)gGa>gAa	p.G63E	SLC16A4_ENST00000437429.2_Intron|SLC16A4_ENST00000472422.2_Missense_Mutation_p.G63E|LAMTOR5-AS1_ENST00000590413.1_RNA|SLC16A4_ENST00000369781.4_Missense_Mutation_p.G63E|SLC16A4_ENST00000541986.1_Intron|SLC16A4_ENST00000497687.1_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	63					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CATGATGGATCCAATCCAACC	0.413																																																	0													135.0	128.0	130.0					1																	110925488		2203	4300	6503	SO:0001583	missense	0			U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.188G>A	1.37:g.110925488C>T	ENSP00000358794:p.Gly63Glu		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G63E	ENST00000369779.4	37	c.188	CCDS823.1	1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832706	0.91036	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000369781	T;T;T	0.81247	0.33;-1.47;0.33	4.55	4.55	0.56014	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.88232	0.6381	M	0.85041	2.73	0.80722	D	1	P;D;D	0.89917	0.928;0.971;1.0	P;P;D	0.85130	0.838;0.853;0.997	D	0.86798	0.1990	10	0.33141	T	0.24	.	16.0535	0.80777	0.0:1.0:0.0:0.0	.	63;63;63	G3V175;Q8WU09;O15374	.;.;MOT5_HUMAN	E	63	ENSP00000358794:G63E;ENSP00000432495:G63E;ENSP00000358796:G63E	ENSP00000358794:G63E	G	-	2	0	SLC16A4	110727011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.230000	0.58632	2.514000	0.84764	0.655000	0.94253	GGA	SLC16A4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000168679		0.413	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A4	HGNC	protein_coding	OTTHUMT00000031115.3	-	0.00	86	0	C	NM_004696		110925488	-1	tier1	-	no_errors	ENST00000369779	ensembl	human	known	74_37	missense	7.50	74	6	SNP	1.000	T
SLC25A44	9673	genome.wustl.edu	37	1	156182430	156182430	+	3'UTR	DEL	T	T	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:156182430delT	ENST00000359511.4	+	0	3325				PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000368277.3_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000565805.1_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCTGGGAGACTGGAAACCTGA	0.423																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.*2208T>-	1.37:g.156182430delT			O75034	RNA	DEL	-	NULL	ENST00000359511.4	37	NULL	CCDS1133.1	1																																																																																			SLC25A44	-	-	ENSG00000160785		0.423	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1		0.00	74	0	T	NM_014655		156182430	+1	tier1		no_errors	ENST00000469537	ensembl	human	known	74_37	rna	24.56	43	14	DEL	0.000	-
SLC25A44	9673	genome.wustl.edu	37	1	156182440	156182441	+	3'UTR	INS	-	-	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:156182440_156182441insT	ENST00000359511.4	+	0	3335_3336				PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000368279.3_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000368277.3_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000565805.1_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TGGAAACCTGATTGGAGCACTG	0.436																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.*2219->T	1.37:g.156182442_156182442dupT			O75034	RNA	INS	-	NULL	ENST00000359511.4	37	NULL	CCDS1133.1	1																																																																																			SLC25A44	-	-	ENSG00000160785		0.436	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A44	HGNC	protein_coding	OTTHUMT00000040856.1		0.00	80	0	-	NM_014655		156182441	+1	tier1		no_errors	ENST00000469537	ensembl	human	known	74_37	rna	28.57	40	16	INS	0.001:0.000	T
SLC6A17	388662	genome.wustl.edu	37	1	110737278	110737278	+	Silent	SNP	C	C	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:110737278C>A	ENST00000331565.4	+	9	1862	c.1377C>A	c.(1375-1377)tcC>tcA	p.S459S	SLC6A17_ENST00000465159.1_3'UTR	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	459					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)	p.S459S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CGTTCTGGTCCGTCATGTTCT	0.607																																																	1	Substitution - coding silent(1)	endometrium(1)											170.0	120.0	137.0					1																	110737278		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.1377C>A	1.37:g.110737278C>A			A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Silent	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.S459	ENST00000331565.4	37	c.1377	CCDS30799.1	1																																																																																			SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000197106		0.607	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	-	0.00	17	0	C	XM_371280		110737278	+1	tier1	-	no_errors	ENST00000331565	ensembl	human	known	74_37	silent	23.53	19	8	SNP	0.006	A
SLITRK5	26050	genome.wustl.edu	37	13	88328551	88328551	+	Missense_Mutation	SNP	C	C	T	rs113077003		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr13:88328551C>T	ENST00000325089.6	+	2	1127	c.908C>T	c.(907-909)aCg>aTg	p.T303M	SLITRK5_ENST00000400028.3_Missense_Mutation_p.T62M	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	303					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)					TTGAGCACCACGGGGTATTTA	0.537																																																	0													64.0	71.0	69.0					13																	88328551		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.908C>T	13.37:g.88328551C>T	ENSP00000366283:p.Thr303Met		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T303M	ENST00000325089.6	37	c.908	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085034	0.36758	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.45668	0.89;0.89	5.76	5.76	0.90799	.	0.172916	0.48767	D	0.000169	T	0.36468	0.0968	N	0.08118	0	0.35042	D	0.759848	D;B	0.71674	0.998;0.067	P;B	0.57204	0.815;0.018	T	0.44498	-0.9324	9	.	.	.	-10.9403	13.101	0.59219	0.0:0.8391:0.1609:0.0	.	62;303	B4DSH5;O94991	.;SLIK5_HUMAN	M	303;62	ENSP00000366283:T303M;ENSP00000442244:T62M	.	T	+	2	0	SLITRK5	87126552	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	3.221000	0.51215	2.724000	0.93272	0.491000	0.48974	ACG	SLITRK5	-	NULL	ENSG00000165300		0.537	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	75	0	C			88328551	+1	tier1	rs113077003	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	28.89	32	13	SNP	1.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84605932	84605932	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:84605932G>C	ENST00000344803.2	+	4	594	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	183	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCCTCCAGAAGACCTAATACT	0.552																																																	0													118.0	117.0	118.0					9																	84605932		1939	4139	6078	SO:0001583	missense	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.547G>C	9.37:g.84605932G>C	ENSP00000341988:p.Asp183His			Missense_Mutation	SNP	NULL	p.D183H	ENST00000344803.2	37	c.547	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842286	0.32513	.	.	ENSG00000214929	ENST00000344803	T	0.05199	3.48	3.1	2.15	0.27550	.	3.124150	0.01154	N	0.006489	T	0.11410	0.0278	L	0.52573	1.65	0.09310	N	1	P	0.50710	0.938	P	0.46975	0.533	T	0.27020	-1.0086	10	0.30078	T	0.28	-3.42	8.0517	0.30581	0.0:0.2516:0.7484:0.0	.	183	Q6ZQQ2	F75D1_HUMAN	H	183	ENSP00000341988:D183H	ENSP00000341988:D183H	D	+	1	0	FAM75D1	83795752	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.027000	0.13621	0.854000	0.35336	0.644000	0.83932	GAC	SPATA31D1	-	NULL	ENSG00000214929		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	-	0.00	111	0	G	NM_001001670		84605932	+1	tier1	-	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	35.35	64	35	SNP	0.001	C
SPATA33	124045	genome.wustl.edu	37	16	89735825	89735825	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:89735825G>A	ENST00000301031.4	+	3	340	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SPATA33_ENST00000579310.1_Missense_Mutation_p.E115K	NM_001271908.1|NM_153025.1	NP_001258837.1|NP_694570.1	Q96N06	SPT33_HUMAN	spermatogenesis associated 33	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)											AACCATTCGGGAGCCGGAGGA	0.547																																																	0													66.0	73.0	71.0					16																	89735825		2198	4300	6498	SO:0001583	missense	0			AK056168	CCDS10983.1, CCDS62012.1, CCDS73929.1	16q24.3	2013-07-16	2013-07-05	2013-07-05	ENSG00000167523	ENSG00000167523			26463	protein-coding gene	gene with protein product		615409	"""chromosome 16 open reading frame 55"""	C16orf55		23844118	Standard	NM_153025		Approved	FLJ31606	uc010vpk.2	Q96N06	OTTHUMG00000138048	ENST00000301031.4:c.340G>A	16.37:g.89735825G>A	ENSP00000301031:p.Glu114Lys		A8WFL2|B4DZN8	Missense_Mutation	SNP	NULL	p.E115K	ENST00000301031.4	37	c.343	CCDS10983.1	16	.	.	.	.	.	.	.	.	.	.	G	12.85	2.062152	0.36373	.	.	ENSG00000167523	ENST00000301031;ENST00000457689	T	0.59772	0.24	4.5	4.5	0.54988	.	0.000000	0.40222	N	0.001159	T	0.64681	0.2620	L	0.34521	1.04	0.09310	N	0.999995	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.982	T	0.57849	-0.7740	10	0.66056	D	0.02	-26.8736	13.0645	0.59025	0.0:0.0:1.0:0.0	.	115;114	B4DZN8;Q96N06	.;CP055_HUMAN	K	114;115	ENSP00000301031:E114K	ENSP00000301031:E114K	E	+	1	0	C16orf55	88263326	0.866000	0.29940	0.029000	0.17559	0.019000	0.09904	3.964000	0.56780	2.225000	0.72522	0.579000	0.79373	GAG	SPATA33	-	NULL	ENSG00000167523		0.547	SPATA33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA33	HGNC	protein_coding	OTTHUMT00000269924.2	-	0.00	84	0	G	NM_153025		89735825	+1	tier1	-	no_errors	ENST00000579310	ensembl	human	known	74_37	missense	21.05	45	12	SNP	0.110	A
SPOP	8405	genome.wustl.edu	37	17	47688654	47688654	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:47688654C>T	ENST00000393328.2	-	7	1011	c.646G>A	c.(646-648)Gct>Act	p.A216T	SPOP_ENST00000347630.2_Missense_Mutation_p.A216T|SPOP_ENST00000504102.1_Missense_Mutation_p.A216T|SPOP_ENST00000503676.1_Missense_Mutation_p.A216T|SPOP_ENST00000393331.3_Missense_Mutation_p.A216T	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	216	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GCTAAGATAGCCTTGTGAGCC	0.443										Prostate(2;0.17)																																							0													95.0	99.0	97.0					17																	47688654		2203	4300	6503	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.646G>A	17.37:g.47688654C>T	ENSP00000377001:p.Ala216Thr		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.A216T	ENST00000393328.2	37	c.646	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.398263	0.96030	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	5.46	5.46	0.80206	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	M	0.85041	2.73	0.80722	D	1	D	0.71674	0.998	D	0.68353	0.957	T	0.82723	-0.0316	10	0.28530	T	0.3	-13.5228	19.0836	0.93192	0.0:1.0:0.0:0.0	.	216	O43791	SPOP_HUMAN	T	216;216;216;216;100;216;169;216;216	ENSP00000377001:A216T;ENSP00000377004:A216T;ENSP00000240327:A216T;ENSP00000425905:A216T;ENSP00000420908:A216T;ENSP00000426986:A216T;ENSP00000420960:A216T	ENSP00000240327:A216T	A	-	1	0	SPOP	45043653	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.872000	0.48467	2.847000	0.97988	0.591000	0.81541	GCT	SPOP	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000121067		0.443	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	-	0.00	76	0	C	NM_003563		47688654	-1	tier1	-	no_errors	ENST00000347630	ensembl	human	known	74_37	missense	33.33	56	28	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131388230	131388230	+	Silent	SNP	T	T	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:131388230T>G	ENST00000372731.4	+	47	6347	c.6237T>G	c.(6235-6237)ctT>ctG	p.L2079L	SPTAN1_ENST00000372739.3_Silent_p.L2084L|SPTAN1_ENST00000358161.5_Silent_p.L2084L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2079					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGAAGAAGCTTCTGGAGGCTC	0.617																																					NSCLC(120;833 1744 2558 35612 37579)												0													52.0	58.0	56.0					9																	131388230		2203	4300	6503	SO:0001819	synonymous_variant	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6237T>G	9.37:g.131388230T>G			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.L2084	ENST00000372731.4	37	c.6252	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	-	0.00	59	0	T	NM_003127		131388230	+1	tier1	-	no_errors	ENST00000358161	ensembl	human	known	74_37	silent	54.39	26	31	SNP	0.997	G
SPTBN2	6712	genome.wustl.edu	37	11	66455366	66455367	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:66455366_66455367delAA	ENST00000533211.1	-	34	6804_6805	c.6473_6474delTT	c.(6472-6474)cttfs	p.L2158fs	SPTBN2_ENST00000529997.1_Frame_Shift_Del_p.L2158fs|SPTBN2_ENST00000309996.2_Frame_Shift_Del_p.L2158fs			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2158					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCTGTGCTCAAGTCTCTGTTG	0.609																																																	0																																										SO:0001589	frameshift_variant	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6473_6474delTT	11.37:g.66455366_66455367delAA	ENSP00000432568:p.Leu2158fs		O14872|O14873	Frame_Shift_Del	DEL	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L2158fs	ENST00000533211.1	37	c.6474_6473	CCDS8150.1	11																																																																																			SPTBN2	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000173898		0.609	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2		0.00	49	0	AA	NM_006946		66455367	-1	tier1		no_errors	ENST00000309996	ensembl	human	known	74_37	frame_shift_del	31.03	20	9	DEL	0.314:0.930	-
SPTBN5	51332	genome.wustl.edu	37	15	42155939	42155939	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:42155939C>T	ENST00000320955.6	-	41	7339	c.7112G>A	c.(7111-7113)cGa>cAa	p.R2371Q	MIR4310_ENST00000582950.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2371					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTCCAGCTCTCGGGACAACAC	0.597																																																	0													88.0	95.0	93.0					15																	42155939		2050	4191	6241	SO:0001583	missense	0			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.7112G>A	15.37:g.42155939C>T	ENSP00000317790:p.Arg2371Gln			Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R2371Q	ENST00000320955.6	37	c.7112		15	.	.	.	.	.	.	.	.	.	.	.	9.563	1.119110	0.20877	.	.	ENSG00000137877	ENST00000320955	T	0.49432	0.78	4.75	-2.45	0.06481	.	1.026890	0.07807	N	0.957457	T	0.30510	0.0767	L	0.31526	0.94	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.24119	-1.0169	10	0.18276	T	0.48	.	7.6788	0.28500	0.1028:0.5175:0.0:0.3797	.	2371	Q9NRC6	SPTN5_HUMAN	Q	2371	ENSP00000317790:R2371Q	ENSP00000317790:R2371Q	R	-	2	0	SPTBN5	39943231	0.008000	0.16893	0.000000	0.03702	0.005000	0.04900	0.145000	0.16157	-0.740000	0.04803	-1.134000	0.01955	CGA	SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000137877		0.597	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	-	0.00	33	0	C	NM_016642		42155939	-1	tier1	-	no_errors	ENST00000320955	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.000	T
STX6	10228	genome.wustl.edu	37	1	180945094	180945094	+	3'UTR	DEL	A	A	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:180945094delA	ENST00000258301.5	-	0	1617				AL162431.1_ENST00000457152.2_Intron|STX6_ENST00000469135.1_5'UTR|RP11-46A10.5_ENST00000358073.2_RNA	NM_005819.4	NP_005810.1	O43752	STX6_HUMAN	syntaxin 6						endosome organization (GO:0007032)|Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|trans-Golgi network membrane (GO:0032588)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TTCTTACCACAAAAAAAAATG	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ002078	CCDS1341.1, CCDS65738.1	1q25.3	2008-02-05			ENSG00000135823	ENSG00000135823			11441	protein-coding gene	gene with protein product		603944				10080545	Standard	XM_005244824		Approved		uc021pfr.1	O43752	OTTHUMG00000035179	ENST00000258301.5:c.*612T>-	1.37:g.180945094delA			B2R652|B4DR17|Q5VY08|Q6FH83	RNA	DEL	-	NULL	ENST00000258301.5	37	NULL	CCDS1341.1	1																																																																																			STX6	-	-	ENSG00000135823		0.368	STX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX6	HGNC	protein_coding	OTTHUMT00000085143.1		0.00	70	0	A	NM_005819		180945094	-1	tier1		no_errors	ENST00000469135	ensembl	human	known	74_37	rna	14.58	41	7	DEL	0.000	-
SVEP1	79987	genome.wustl.edu	37	9	113238591	113238591	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr9:113238591G>T	ENST00000401783.2	-	14	2828	c.2492C>A	c.(2491-2493)cCa>cAa	p.P831Q	SVEP1_ENST00000374469.1_Missense_Mutation_p.P808Q|SVEP1_ENST00000374461.1_Missense_Mutation_p.P808Q|SVEP1_ENST00000302728.8_Missense_Mutation_p.P831Q|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	831					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACAAAATGATGGGACCTGCAA	0.403																																																	0													102.0	102.0	102.0					9																	113238591		1872	4104	5976	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.2492C>A	9.37:g.113238591G>T	ENSP00000384917:p.Pro831Gln		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.P831Q	ENST00000401783.2	37	c.2492	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095247	0.76870	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728;ENST00000374461	T;T;T;T	0.77877	-0.97;-0.97;-1.13;1.21	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.72118	2.19	0.44677	D	0.997663	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	D	0.85018	0.0910	10	0.29301	T	0.29	.	18.9115	0.92487	0.0:0.0:1.0:0.0	.	831;831;831	E9PBN8;Q4LDE5;Q4LDE5-2	.;SVEP1_HUMAN;.	Q	831;808;831;808	ENSP00000384917:P831Q;ENSP00000363593:P808Q;ENSP00000304118:P831Q;ENSP00000363585:P808Q	ENSP00000304118:P831Q	P	-	2	0	SVEP1	112278412	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	8.601000	0.90864	2.469000	0.83416	0.460000	0.39030	CCA	SVEP1	-	NULL	ENSG00000165124		0.403	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		-	0.00	73	0	G			113238591	-1	tier1	-	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	6.90	54	4	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152652910	152652910	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:152652910C>T	ENST00000367255.5	-	78	13511	c.12910G>A	c.(12910-12912)Gag>Aag	p.E4304K	SYNE1_ENST00000448038.1_Missense_Mutation_p.E4233K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4169K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E4233K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4304K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4304					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAGATGCTCTATCATTTTC	0.388										HNSCC(10;0.0054)																																							0													110.0	107.0	108.0					6																	152652910		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12910G>A	6.37:g.152652910C>T	ENSP00000356224:p.Glu4304Lys		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E4304K	ENST00000367255.5	37	c.12910	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027874	0.35797	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.99	5.99	0.97316	.	0.192127	0.36101	N	0.002793	T	0.18130	0.0435	L	0.44542	1.39	0.80722	D	1	P;B;B;P	0.35872	0.478;0.391;0.391;0.525	B;B;B;B	0.30401	0.115;0.053;0.053;0.115	T	0.06144	-1.0843	10	0.12103	T	0.63	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	4304;4304;4304;4233	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4304;4233;4304;4233;4169	ENSP00000356224:E4304K;ENSP00000396024:E4233K;ENSP00000265368:E4304K;ENSP00000390975:E4233K;ENSP00000341887:E4169K	ENSP00000265368:E4304K	E	-	1	0	SYNE1	152694603	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	4.646000	0.61411	2.840000	0.97914	0.655000	0.94253	GAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	83	0	C	NM_182961		152652910	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	20.27	58	15	SNP	0.982	T
SYNPO2L	79933	genome.wustl.edu	37	10	75408586	75408586	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:75408586G>T	ENST00000394810.2	-	4	973	c.824C>A	c.(823-825)aCc>aAc	p.T275N	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.T51N	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	275						cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTGCATTTGGTCTTGGCCTC	0.537																																																	0													59.0	50.0	53.0					10																	75408586		2203	4299	6502	SO:0001583	missense	0			AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.824C>A	10.37:g.75408586G>T	ENSP00000378289:p.Thr275Asn		A5PKV9|Q68A20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T275N	ENST00000394810.2	37	c.824	CCDS44438.1	10	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767230	0.69878	.	.	ENSG00000166317	ENST00000372873;ENST00000372872;ENST00000394810	T;T;T	0.25749	1.78;2.79;2.79	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.45875	0.1364	L	0.50333	1.59	0.58432	D	0.99999	D;D	0.65815	0.995;0.995	D;D	0.68483	0.911;0.958	T	0.44711	-0.9310	10	0.72032	D	0.01	-17.7459	17.7007	0.88293	0.0:0.0:1.0:0.0	.	275;51	Q9H987;Q9H987-2	SYP2L_HUMAN;.	N	51;275;275	ENSP00000361964:T51N;ENSP00000361963:T275N;ENSP00000378289:T275N	ENSP00000361963:T275N	T	-	2	0	SYNPO2L	75078592	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.582000	0.74049	2.441000	0.82636	0.484000	0.47621	ACC	SYNPO2L	-	NULL	ENSG00000166317		0.537	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNPO2L	HGNC	protein_coding	OTTHUMT00000316562.2		0.00	30	0	G	NM_024875		75408586	-1			no_errors	ENST00000394810	ensembl	human	known	74_37	missense	11.43	31	4	SNP	1.000	T
SYT10	341359	genome.wustl.edu	37	12	33579301	33579301	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:33579301G>C	ENST00000228567.3	-	2	577	c.281C>G	c.(280-282)aCt>aGt	p.T94S	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	94					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TGGAAGCGTAGTGATGTTGGA	0.423																																																	0													91.0	90.0	90.0					12																	33579301		2203	4300	6503	SO:0001583	missense	0			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.281C>G	12.37:g.33579301G>C	ENSP00000228567:p.Thr94Ser		Q495U2	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom	p.T94S	ENST00000228567.3	37	c.281	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.471174	0.00167	.	.	ENSG00000110975	ENST00000228567	T	0.44083	0.93	4.1	-2.4	0.06583	.	0.459403	0.18019	N	0.154304	T	0.11665	0.0284	N	0.02315	-0.6	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.32295	-0.9912	10	0.02654	T	1	.	6.502	0.22174	0.0:0.3531:0.4103:0.2366	.	94	Q6XYQ8	SYT10_HUMAN	S	94	ENSP00000228567:T94S	ENSP00000228567:T94S	T	-	2	0	SYT10	33470568	0.000000	0.05858	0.000000	0.03702	0.174000	0.22865	-0.030000	0.12308	-0.492000	0.06687	-0.147000	0.13772	ACT	SYT10	-	NULL	ENSG00000110975		0.423	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	-	0.00	80	0	G	NM_198992		33579301	-1	tier1	-	no_errors	ENST00000228567	ensembl	human	known	74_37	missense	26.92	57	21	SNP	0.001	C
TAF7L	54457	genome.wustl.edu	37	X	100531514	100531514	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chrX:100531514A>G	ENST00000372907.3	-	10	963	c.952T>C	c.(952-954)Tat>Cat	p.Y318H	TAF7L_ENST00000372905.2_Intron|TAF7L_ENST00000324762.6_Intron|TAF7L_ENST00000356784.1_Missense_Mutation_p.Y232H	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	318					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AGCATATCATATTCTACTAGT	0.383																																					Ovarian(104;431 1530 3210 15406 18594)												0													176.0	160.0	165.0					X																	100531514		2203	4300	6503	SO:0001583	missense	0			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.952T>C	X.37:g.100531514A>G	ENSP00000361998:p.Tyr318His		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.Y318H	ENST00000372907.3	37	c.952	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	a	0.612	-0.824747	0.02755	.	.	ENSG00000102387	ENST00000372907;ENST00000356784	T;T	0.04083	3.71;3.71	4.79	-0.791	0.10929	.	0.796683	0.10678	N	0.646764	T	0.02727	0.0082	L	0.33668	1.02	0.09310	N	1	P	0.40083	0.702	B	0.30495	0.116	T	0.36456	-0.9747	10	0.06099	T	0.92	3.4536	9.0509	0.36376	0.3002:0.0:0.6998:0.0	.	318	Q5H9L4	TAF7L_HUMAN	H	318;232	ENSP00000361998:Y318H;ENSP00000349235:Y232H	ENSP00000349235:Y232H	Y	-	1	0	TAF7L	100418170	0.170000	0.23016	0.004000	0.12327	0.927000	0.56198	1.827000	0.39102	-0.093000	0.12396	0.378000	0.23410	TAT	TAF7L	-	NULL	ENSG00000102387		0.383	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	-	0.00	14	0	A			100531514	-1	tier1	-	no_errors	ENST00000372907	ensembl	human	known	74_37	missense	50.00	10	10	SNP	0.006	G
TAS2R16	50833	genome.wustl.edu	37	7	122634852	122634852	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr7:122634852G>A	ENST00000249284.2	-	1	902	c.837C>T	c.(835-837)agC>agT	p.S279S		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	279					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACGTAGGGCTGCTCAGCATCA	0.418																																																	0													114.0	116.0	115.0					7																	122634852		2203	4300	6503	SO:0001819	synonymous_variant	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.837C>T	7.37:g.122634852G>A			A4D0X2|Q502V3|Q549U8|Q645W1	Silent	SNP	pfam_TAS2_rcpt	p.S279	ENST00000249284.2	37	c.837	CCDS5785.1	7																																																																																			TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.418	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	-	0.00	55	0	G	NM_016945		122634852	-1	tier1	-	no_errors	ENST00000249284	ensembl	human	known	74_37	silent	32.69	35	17	SNP	0.007	A
TEKT2	27285	genome.wustl.edu	37	1	36552424	36552424	+	Missense_Mutation	SNP	T	T	C	rs201956071		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:36552424T>C	ENST00000207457.3	+	5	735	c.608T>C	c.(607-609)gTt>gCt	p.V203A	ADPRHL2_ENST00000373178.4_5'Flank	NM_014466.2	NP_055281.2	Q9UIF3	TEKT2_HUMAN	tektin 2 (testicular)	203					cell projection organization (GO:0030030)|inner dynein arm assembly (GO:0036159)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGCTGAAGGTTGACCCCACA	0.552																																																	0													157.0	132.0	141.0					1																	36552424		2203	4300	6503	SO:0001583	missense	0			AB033823	CCDS401.1	1p34.3	2008-02-05			ENSG00000092850	ENSG00000092850			11725	protein-coding gene	gene with protein product		608953				12029069, 11751288	Standard	NM_014466		Approved	TEKTB1	uc001bzr.3	Q9UIF3	OTTHUMG00000007629	ENST00000207457.3:c.608T>C	1.37:g.36552424T>C	ENSP00000207457:p.Val203Ala		A6NIS6|O60638	Missense_Mutation	SNP	pfam_Tektin,superfamily_Prefoldin,prints_Tektin	p.V203A	ENST00000207457.3	37	c.608	CCDS401.1	1	.	.	.	.	.	.	.	.	.	.	T	0.365	-0.936978	0.02340	.	.	ENSG00000092850	ENST00000207457	T	0.02236	4.38	5.64	4.51	0.55191	.	0.498333	0.23375	N	0.048863	T	0.02807	0.0084	L	0.57536	1.79	0.39312	D	0.965094	B	0.32051	0.354	B	0.30105	0.111	T	0.34700	-0.9818	10	0.07175	T	0.84	.	11.2732	0.49150	0.0:0.0713:0.0:0.9287	.	203	Q9UIF3	TEKT2_HUMAN	A	203	ENSP00000207457:V203A	ENSP00000207457:V203A	V	+	2	0	TEKT2	36325011	1.000000	0.71417	0.024000	0.17045	0.128000	0.20619	3.745000	0.55119	0.974000	0.38366	0.460000	0.39030	GTT	TEKT2	-	pfam_Tektin	ENSG00000092850		0.552	TEKT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT2	HGNC	protein_coding	OTTHUMT00000020200.1	-	0.00	40	0	T	NM_014466		36552424	+1	tier1	-	no_errors	ENST00000207457	ensembl	human	known	74_37	missense	44.44	40	32	SNP	0.986	C
TESC	54997	genome.wustl.edu	37	12	117486955	117486955	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr12:117486955C>T	ENST00000335209.7	-	4	404	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TESC_ENST00000541210.1_Missense_Mutation_p.R46H|TESC_ENST00000392545.4_Missense_Mutation_p.R126H|TESC_ENST00000535198.1_5'UTR			Q96BS2	CHP3_HUMAN	tescalcin	73					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		GGGTCCCTTGCGCAGGTTCCT	0.537																																																	0													118.0	110.0	112.0					12																	117486955		2203	4300	6503	SO:0001583	missense	0			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.218G>A	12.37:g.117486955C>T	ENSP00000334785:p.Arg73His		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R126H	ENST00000335209.7	37	c.377	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	C	13.98	2.397995	0.42512	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.54866	0.55;0.55;1.22	5.92	5.92	0.95590	EF-hand-like domain (1);	0.178711	0.50627	D	0.000107	T	0.39911	0.1096	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.17289	-1.0374	10	0.21540	T	0.41	-21.8896	13.1034	0.59233	0.0:0.9233:0.0:0.0767	.	73	Q96BS2	TESC_HUMAN	H	73;126;46	ENSP00000334785:R73H;ENSP00000376328:R126H;ENSP00000445689:R46H	ENSP00000334785:R73H	R	-	2	0	TESC	115971338	0.998000	0.40836	1.000000	0.80357	0.769000	0.43574	2.718000	0.47236	2.811000	0.96726	0.555000	0.69702	CGC	TESC	-	NULL	ENSG00000088992		0.537	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	-	0.00	74	0	C	NM_017899		117486955	-1	tier1	-	no_errors	ENST00000392545	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.994	T
TFG	10342	genome.wustl.edu	37	3	100432640	100432640	+	Silent	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr3:100432640G>T	ENST00000240851.4	+	2	451	c.111G>T	c.(109-111)gtG>gtT	p.V37V	TFG_ENST00000490574.1_Silent_p.V37V|TFG_ENST00000418917.2_Silent_p.V37V|TFG_ENST00000476228.1_Silent_p.V37V	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	37					cell death (GO:0008219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	signal transducer activity (GO:0004871)		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						ATGAATTAGTGCTAATGATGC	0.328			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""																																			Dom	yes		3	3q11-q12	10342	TRK-fused gene		"""E, L"""	0													88.0	89.0	88.0					3																	100432640		2203	4300	6503	SO:0001819	synonymous_variant	0			BC009241	CCDS2939.1, CCDS56266.1	3q12.2	2013-03-13	2001-12-04		ENSG00000114354	ENSG00000114354			11758	protein-coding gene	gene with protein product		602498				9169129, 23479643	Standard	NM_001007565		Approved	TF6, FLJ36137, SPG57	uc003dui.3	Q92734	OTTHUMG00000159085	ENST00000240851.4:c.111G>T	3.37:g.100432640G>T			D3DN49|G5E9V1|Q15656|Q969I2	Silent	SNP	pfam_OPR_PB1,smart_OPR_PB1	p.V37	ENST00000240851.4	37	c.111	CCDS2939.1	3																																																																																			TFG	-	pfam_OPR_PB1,smart_OPR_PB1	ENSG00000114354		0.328	TFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFG	HGNC	protein_coding	OTTHUMT00000353242.1	-	0.00	80	0	G	NM_006070		100432640	+1	tier1	-	no_errors	ENST00000240851	ensembl	human	known	74_37	silent	6.67	56	4	SNP	1.000	T
THBS2	7058	genome.wustl.edu	37	6	169648854	169648854	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr6:169648854C>T	ENST00000366787.3	-	4	516	c.267G>A	c.(265-267)caG>caA	p.Q89Q		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	89	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.Q89Q(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCTGCTTGAGCTGGGCCGTGA	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Substitution - coding silent(1)	endometrium(1)											122.0	104.0	111.0					6																	169648854		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.267G>A	6.37:g.169648854C>T			A6H8N1|A7E232|Q5RI52	Silent	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.Q89	ENST00000366787.3	37	c.267	CCDS34574.1	6																																																																																			THBS2	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000186340		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	HGNC	protein_coding	OTTHUMT00000105439.1		0.00	41	0	C	NM_003247		169648854	-1			no_errors	ENST00000366787	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.972	T
TJP1	7082	genome.wustl.edu	37	15	30000830	30000830	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr15:30000830T>C	ENST00000346128.6	-	25	5257	c.4783A>G	c.(4783-4785)Atc>Gtc	p.I1595V	TJP1_ENST00000356107.6_Missense_Mutation_p.I1595V|TJP1_ENST00000400011.2_Missense_Mutation_p.I1519V|TJP1_ENST00000545208.2_Missense_Mutation_p.I1515V	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1595					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGCATGGATAGAGAAAGTT	0.413																																					Melanoma(77;681 1843 6309 6570)												0													136.0	126.0	129.0					15																	30000830		1853	4098	5951	SO:0001583	missense	0				CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4783A>G	15.37:g.30000830T>C	ENSP00000281537:p.Ile1595Val		B4E3K1|Q2NKP3|Q4ZGJ6	Missense_Mutation	SNP	pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens	p.I1595V	ENST00000346128.6	37	c.4783	CCDS42007.1	15	.	.	.	.	.	.	.	.	.	.	T	0.874	-0.730860	0.03135	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	T;T	0.05258	3.47;3.55	6.17	-0.289	0.12851	.	0.547182	0.21196	N	0.078547	T	0.01661	0.0053	N	0.01576	-0.805	0.09310	N	0.999999	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.46965	-0.9153	10	0.05525	T	0.97	.	7.0138	0.24877	0.0:0.3791:0.1231:0.4978	.	1588;1515;1595;1519	A9CQZ8;Q07157-2;Q07157;G5E9E7	.;.;ZO1_HUMAN;.	V	1595;1519;1595;1515;1515	ENSP00000281537:I1595V;ENSP00000382890:I1519V	ENSP00000281537:I1595V	I	-	1	0	TJP1	27788122	0.175000	0.23083	0.061000	0.19648	0.994000	0.84299	0.458000	0.21892	-0.034000	0.13713	0.533000	0.62120	ATC	TJP1	-	NULL	ENSG00000104067		0.413	TJP1-001	KNOWN	basic|CCDS	protein_coding	TJP1	HGNC	protein_coding	OTTHUMT00000268237.3	-	0.00	87	0	T	NM_003257		30000830	-1	tier1	-	no_errors	ENST00000346128	ensembl	human	known	74_37	missense	28.57	45	18	SNP	0.040	C
TMEM178A	130733	genome.wustl.edu	37	2	39893219	39893219	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:39893219delC	ENST00000281961.2	+	1	161	c.105delC	c.(103-105)gacfs	p.D35fs	TMEM178A_ENST00000482239.1_Intron|AC007246.3_ENST00000415640.1_RNA	NM_152390.2	NP_689603.2	Q8NBL3	T178A_HUMAN	transmembrane protein 178A	35						integral component of membrane (GO:0016021)											ACGAGACCGACCCCCGGCGCC	0.736																																																	0													8.0	10.0	9.0					2																	39893219		1963	4124	6087	SO:0001589	frameshift_variant	0			BC029530	CCDS1804.1	2p22.1	2012-06-29	2012-06-29	2012-06-29	ENSG00000152154	ENSG00000152154			28517	protein-coding gene	gene with protein product			"""transmembrane protein 178"""	TMEM178		12975309	Standard	NM_001167959		Approved	MGC33926	uc002rrt.3	Q8NBL3	OTTHUMG00000128591	ENST00000281961.2:c.105delC	2.37:g.39893219delC	ENSP00000281961:p.Asp35fs		Q6UWI6|Q8N6N4	Frame_Shift_Del	DEL	NULL	p.R37fs	ENST00000281961.2	37	c.105	CCDS1804.1	2																																																																																			TMEM178A	-	NULL	ENSG00000152154		0.736	TMEM178A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM178A	HGNC	protein_coding	OTTHUMT00000250445.2		0.00	12	0	C	NM_152390		39893219	+1			no_errors	ENST00000281961	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	1.000	0
TMPRSS11B	132724	genome.wustl.edu	37	4	69096947	69096947	+	Silent	SNP	T	T	C			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr4:69096947T>C	ENST00000332644.5	-	7	821	c.660A>G	c.(658-660)ctA>ctG	p.L220L		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						CTGCAGATAATAGCCACCTGC	0.468																																																	0													58.0	59.0	59.0					4																	69096947		2203	4300	6503	SO:0001819	synonymous_variant	0			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.660A>G	4.37:g.69096947T>C			A8K4D9	Silent	SNP	pfam_Peptidase_S1,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L220	ENST00000332644.5	37	c.660	CCDS3521.1	4																																																																																			TMPRSS11B	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000185873		0.468	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11B	HGNC	protein_coding	OTTHUMT00000251431.2	-	0.00	44	0	T	NM_182502		69096947	-1	tier1	-	no_errors	ENST00000332644	ensembl	human	known	74_37	silent	28.07	41	16	SNP	0.000	C
TP53	7157	genome.wustl.edu	37	17	7572939	7572939	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7572939delA	ENST00000269305.4	-	11	1359	c.1170delT	c.(1168-1170)cctfs	p.P390fs	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Del_p.P390fs|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	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	390	Interaction with CARM1.				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.0?(8)|p.?(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)	AGTCTGAGTCAGGCCCTTCTG	0.522		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"""	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											284.0	253.0	264.0					17																	7572939		2203	4300	6503	SO:0001589	frameshift_variant	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.1170delT	17.37:g.7572939delA	ENSP00000269305:p.Pro390fs		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	Frame_Shift_Del	DEL	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.D391fs	ENST00000269305.4	37	c.1170	CCDS11118.1	17																																																																																			TP53	-	NULL	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	70	0	A	NM_000546		7572939	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	31.65	54	25	DEL	0.078	-
TP53	7157	genome.wustl.edu	37	17	7572940	7572940	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7572940G>T	ENST00000269305.4	-	11	1358	c.1169C>A	c.(1168-1170)cCt>cAt	p.P390H	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.P390H|TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	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	390	Interaction with CARM1.				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.0?(8)|p.?(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)	GTCTGAGTCAGGCCCTTCTGT	0.522		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"""	9	Whole gene deletion(8)|Unknown(1)	bone(4)|haematopoietic_and_lymphoid_tissue(2)|central_nervous_system(2)|stomach(1)											285.0	254.0	265.0					17																	7572940		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.1169C>A	17.37:g.7572940G>T	ENSP00000269305:p.Pro390His		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.P390H	ENST00000269305.4	37	c.1169	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080631	0.36758	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473;ENST00000419024	D;D	0.99264	-5.65;-5.65	5.31	2.27	0.28462	.	0.773311	0.12802	N	0.437957	D	0.98852	0.9612	M	0.75447	2.3	0.09310	N	1	D	0.59767	0.986	P	0.55999	0.789	D	0.95970	0.8969	10	0.87932	D	0	-7.0105	7.128	0.25484	0.2739:0.0:0.7261:0.0	.	390	P04637	P53_HUMAN	H	390;390;379;41	ENSP00000269305:P390H;ENSP00000391478:P390H	ENSP00000269305:P390H	P	-	2	0	TP53	7513665	0.888000	0.30383	0.062000	0.19696	0.196000	0.23810	1.343000	0.33930	0.390000	0.25115	0.561000	0.74099	CCT	TP53	-	NULL	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	71	0	G	NM_000546		7572940	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	31.65	54	25	SNP	0.066	T
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	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.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		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.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	64	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	23.08	49	15	SNP	1.000	T
TRIM51HP	440041	genome.wustl.edu	37	11	55062977	55062977	+	RNA	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr11:55062977G>T	ENST00000526016.1	-	0	660					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ATTTTCTTCAGATCCTCATAC	0.443																																																	0																																												0					11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55062977G>T				RNA	SNP	-	NULL	ENST00000526016.1	37	NULL		11																																																																																			TRIM51HP	-	-	ENSG00000166007		0.443	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	TRIM51HP	HGNC	pseudogene	OTTHUMT00000391438.1	-	0.00	304	0	G			55062977	-1	tier1	-	no_errors	ENST00000526016	ensembl	human	putative	74_37	rna	23.72	254	79	SNP	0.088	T
TRIM62	55223	genome.wustl.edu	37	1	33612835	33612835	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:33612835C>T	ENST00000291416.5	-	5	1604	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	TRIM62_ENST00000543586.1_Silent_p.Q336Q	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	457	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TGGCGTGGCTCTGGCCAGGGC	0.572																																																	0													93.0	81.0	85.0					1																	33612835		2203	4300	6503	SO:0001819	synonymous_variant	0			BC007999	CCDS376.1	1p35.1	2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""		"""tripartite motif-containing 62"""			19536326	Standard	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	Q9BVG3	OTTHUMG00000004132	ENST00000291416.5:c.1371G>A	1.37:g.33612835C>T			B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Q457	ENST00000291416.5	37	c.1371	CCDS376.1	1																																																																																			TRIM62	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000116525		0.572	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM62	HGNC	protein_coding	OTTHUMT00000011890.1	-	0.00	27	0	C	NM_018207		33612835	-1	tier1	-	no_errors	ENST00000291416	ensembl	human	known	74_37	silent	44.44	15	12	SNP	1.000	T
TSNAX	7257	genome.wustl.edu	37	1	231665061	231665061	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr1:231665061G>A	ENST00000366639.4	+	2	235	c.77G>A	c.(76-78)gGg>gAg	p.G26E	RP11-295G20.2_ENST00000416221.1_RNA|TSNAX-DISC1_ENST00000602962.1_Missense_Mutation_p.G26E|RP11-295G20.2_ENST00000440665.1_RNA|RP11-295G20.2_ENST00000425412.1_RNA|TSNAX_ENST00000602825.1_3'UTR|RP11-295G20.2_ENST00000450783.1_RNA|RP11-295G20.2_ENST00000454631.1_RNA	NM_005999.2	NP_005990.1	Q99598	TSNAX_HUMAN	translin-associated factor X	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		all_cancers(173;0.0395)|Acute lymphoblastic leukemia(190;3.76e-06)|Prostate(94;0.116)				AGAAGAGAAGGGAAGGATGTT	0.388																																																	0													178.0	164.0	169.0					1																	231665061		2203	4300	6503	SO:0001583	missense	0			X95073	CCDS1596.1	1q42.2	2008-02-05			ENSG00000116918	ENSG00000116918			12380	protein-coding gene	gene with protein product		602964				9013868	Standard	NM_005999		Approved	TRAX	uc001huw.3	Q99598	OTTHUMG00000039486	ENST00000366639.4:c.77G>A	1.37:g.231665061G>A	ENSP00000355599:p.Gly26Glu		B1APC6	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.G26E	ENST00000366639.4	37	c.77	CCDS1596.1	1	.	.	.	.	.	.	.	.	.	.	G	9.374	1.071285	0.20147	.	.	ENSG00000116918	ENST00000366639;ENST00000413309	.	.	.	5.56	5.56	0.83823	Translin, N-terminal (1);	0.200266	0.42964	D	0.000627	T	0.21962	0.0529	N	0.04880	-0.145	0.34231	D	0.676481	B	0.02656	0.0	B	0.04013	0.001	T	0.22906	-1.0203	9	0.02654	T	1	.	10.5211	0.44920	0.0887:0.0:0.9113:0.0	.	26	Q99598	TSNAX_HUMAN	E	26	.	ENSP00000355599:G26E	G	+	2	0	TSNAX	229731684	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.313000	0.59160	2.622000	0.88805	0.655000	0.94253	GGG	TSNAX	-	NULL	ENSG00000116918		0.388	TSNAX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSNAX	HGNC	protein_coding	OTTHUMT00000095267.2		0.00	49	0	G	NM_005999		231665061	+1			no_errors	ENST00000366639	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	A
CFAP46	54777	genome.wustl.edu	37	10	134647604	134647604	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr10:134647604G>A	ENST00000368586.5	-	49	6990	c.6890C>T	c.(6889-6891)gCc>gTc	p.A2297V	TTC40_ENST00000263170.5_Missense_Mutation_p.A458V	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCCTGAATCGGCAACAACCGC	0.522																																																	0													178.0	164.0	169.0					10																	134647604		2203	4300	6503	SO:0001583	missense	0																														ENST00000368586.5:c.6890C>T	10.37:g.134647604G>A	ENSP00000357575:p.Ala2297Val			Missense_Mutation	SNP	NULL	p.A458V	ENST00000368586.5	37	c.1373	CCDS58101.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.89|12.89	2.073799|2.073799	0.36566|0.36566	.|.	.|.	ENSG00000171811|ENSG00000171811	ENST00000368586;ENST00000263170|ENST00000448925	T;T|.	0.37235|.	1.21;1.21|.	3.98|3.98	-2.9|-2.9	0.05648|0.05648	.|.	1.776700|.	0.03823|.	N|.	0.267805|.	T|T	0.39517|0.39517	0.1081|0.1081	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	B|.	0.27229|.	0.172|.	B|.	0.31686|.	0.134|.	T|T	0.42310|0.42310	-0.9459|-0.9459	10|5	0.46703|.	T|.	0.11|.	.|.	4.6275|4.6275	0.12484|0.12484	0.4248:0.3321:0.2431:0.0|0.4248:0.3321:0.2431:0.0	.|.	458|.	Q8IYW2|.	CJ092_HUMAN|.	V|S	2297;458|66	ENSP00000357575:A2297V;ENSP00000263170:A458V|.	ENSP00000263170:A458V|.	A|P	-|-	2|1	0|0	C10orf93|C10orf93	134497594|134497594	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.352000|-0.352000	0.07701|0.07701	-0.499000|-0.499000	0.06623|0.06623	0.563000|0.563000	0.77884|0.77884	GCC|CCG	TTC40	-	NULL	ENSG00000171811		0.522	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3		0.00	36	0	G			134647604	-1			no_errors	ENST00000263170	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179580465	179580465	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:179580465C>G	ENST00000591111.1	-	87	24949	c.24725G>C	c.(24724-24726)aGa>aCa	p.R8242T	TTN_ENST00000589042.1_Missense_Mutation_p.R8559T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7315T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12422	Ig-like 65.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACAATTCTTGAAGGTTC	0.393																																																	0													38.0	36.0	37.0					2																	179580465		1833	4085	5918	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24725G>C	2.37:g.179580465C>G	ENSP00000465570:p.Arg8242Thr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R7315T	ENST00000591111.1	37	c.21944		2	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216036	0.39201	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	5.33	5.33	0.75918	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48502	0.1503	N	0.17764	0.52	0.80722	D	1	P	0.45396	0.857	B	0.42188	0.379	T	0.54689	-0.8256	9	0.87932	D	0	.	10.9141	0.47126	0.0:0.8539:0.0:0.1461	.	8242	Q8WZ42	TITIN_HUMAN	T	7315	ENSP00000343764:R7315T	ENSP00000343764:R7315T	R	-	2	0	TTN	179288710	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.538000	0.36094	2.637000	0.89404	0.655000	0.94253	AGA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	32	0	C	NM_133378		179580465	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G
TXN2	25828	genome.wustl.edu	37	22	36863944	36863944	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr22:36863944C>T	ENST00000216185.2	-	4	874	c.408G>A	c.(406-408)gtG>gtA	p.V136V	TXN2_ENST00000487725.1_5'UTR|TXN2_ENST00000403313.1_Silent_p.V136V|TXN2_ENST00000416967.1_Silent_p.V34V			Q99757	THIOM_HUMAN	thioredoxin 2	136	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|cellular response to nutrient levels (GO:0031669)|glycerol ether metabolic process (GO:0006662)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|response to oxidative stress (GO:0006979)	dendrite (GO:0030425)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)	protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|lung(1)|prostate(1)	3						TCATGGCCAGCACAGTGGGCA	0.547																																																	0													110.0	87.0	95.0					22																	36863944		2203	4300	6503	SO:0001819	synonymous_variant	0			U78678	CCDS13928.1	22q13.1	2008-06-11			ENSG00000100348	ENSG00000100348			17772	protein-coding gene	gene with protein product		609063				9006939, 17220299	Standard	NM_012473		Approved	MT-TRX	uc003apk.1	Q99757	OTTHUMG00000150596	ENST00000216185.2:c.408G>A	22.37:g.36863944C>T			Q5JZA0|Q6FH60|Q9UH29	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	p.V136	ENST00000216185.2	37	c.408	CCDS13928.1	22																																																																																			TXN2	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Thioredoxin	ENSG00000100348		0.547	TXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXN2	HGNC	protein_coding	OTTHUMT00000319016.1		0.00	68	0	C	NM_012473		36863944	-1			no_errors	ENST00000216185	ensembl	human	known	74_37	silent	5.56	34	2	SNP	1.000	T
URB1	9875	genome.wustl.edu	37	21	33765205	33765205	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr21:33765205C>G	ENST00000382751.3	-	1	130	c.15G>C	c.(13-15)aaG>aaC	p.K5N	C21orf119_ENST00000534991.2_5'Flank	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	5						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AGGCCTTCCTCTTGGGGACCC	0.697											OREG0003538|OREG0003551	type=REGULATORY REGION|Gene=C21orf108|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=C21orf119|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													5.0	6.0	6.0					21																	33765205		679	1571	2250	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.15G>C	21.37:g.33765205C>G	ENSP00000372199:p.Lys5Asn	842	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.K5N	ENST00000382751.3	37	c.15	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208948	0.58343	.	.	ENSG00000142207	ENST00000382751	T	0.37411	1.2	5.21	1.41	0.22369	.	0.000000	0.49305	D	0.000154	T	0.41858	0.1177	L	0.27053	0.805	0.31292	N	0.689307	D	0.89917	1.0	D	0.83275	0.996	T	0.46345	-0.9198	10	0.72032	D	0.01	-31.0887	9.0546	0.36397	0.0:0.7033:0.0:0.2967	.	5	O60287	NPA1P_HUMAN	N	5	ENSP00000372199:K5N	ENSP00000372199:K5N	K	-	3	2	URB1	32687076	1.000000	0.71417	0.949000	0.38748	0.171000	0.22731	0.720000	0.25896	0.087000	0.17167	0.455000	0.32223	AAG	URB1	-	NULL	ENSG00000142207		0.697	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	-	0.00	20	0	C			33765205	-1	tier1	-	no_errors	ENST00000382751	ensembl	human	known	74_37	missense	38.89	11	7	SNP	0.986	G
XIRP2	129446	genome.wustl.edu	37	2	168104729	168104729	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr2:168104729T>A	ENST00000409195.1	+	9	6916	c.6827T>A	c.(6826-6828)tTt>tAt	p.F2276Y	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2054Y|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2276Y	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2101					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAATCAACTTTAACCCTGAG	0.408																																																	0													69.0	66.0	67.0					2																	168104729		1893	4093	5986	SO:0001583	missense	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6827T>A	2.37:g.168104729T>A	ENSP00000386840:p.Phe2276Tyr		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat	p.F2276Y	ENST00000409195.1	37	c.6827	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	T	13.52	2.262515	0.39995	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.24350	1.86;1.86;1.86	6.17	-0.302	0.12796	.	1.005740	0.07990	N	0.987008	T	0.14874	0.0359	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.029	B;B;B	0.13407	0.004;0.009;0.009	T	0.34700	-0.9818	10	0.02654	T	1	8.0E-4	2.3465	0.04272	0.1267:0.1419:0.3942:0.3373	.	2101;2101;2054	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2276;2276;2054	ENSP00000386840:F2276Y;ENSP00000295237:F2276Y;ENSP00000387255:F2054Y	ENSP00000295237:F2276Y	F	+	2	0	XIRP2	167812975	0.000000	0.05858	0.099000	0.21106	0.990000	0.78478	0.404000	0.20999	-0.045000	0.13468	0.533000	0.62120	TTT	XIRP2	-	NULL	ENSG00000163092		0.408	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	-	0.00	41	0	T	NM_152381		168104729	+1	tier1	-	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.065	A
YES1	7525	genome.wustl.edu	37	18	748017	748017	+	Splice_Site	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr18:748017C>G	ENST00000584307.1	-	4	543	c.373G>C	c.(373-375)Gaa>Caa	p.E125Q	YES1_ENST00000314574.4_Splice_Site_p.E125Q|YES1_ENST00000577961.1_Splice_Site_p.E130Q			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	125	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CAATCTCCTTCCCTGCAACAC	0.423																																																	0													165.0	146.0	152.0					18																	748017		2203	4300	6503	SO:0001630	splice_region_variant	0			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.372-1G>C	18.37:g.748017C>G			A6NLB3|D3DUH1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.E125Q	ENST00000584307.1	37	c.373	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689064	0.68271	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.46819	0.86	5.64	5.64	0.86602	Src homology-3 domain (5);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	L	0.38953	1.18	0.80722	D	1	B	0.23735	0.09	B	0.21360	0.034	T	0.16748	-1.0392	10	0.38643	T	0.18	.	20.0556	0.97650	0.0:1.0:0.0:0.0	.	125	P07947	YES_HUMAN	Q	125	ENSP00000324740:E125Q	ENSP00000324740:E125Q	E	-	1	0	YES1	738017	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.675000	0.84002	2.821000	0.97095	0.484000	0.47621	GAA	YES1	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	ENSG00000176105		0.423	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	HGNC	protein_coding	OTTHUMT00000440827.2	-	0.00	37	0	C	NM_005433	Missense_Mutation	748017	-1	tier1	-	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	24.44	34	11	SNP	1.000	G
ZC3H3	23144	genome.wustl.edu	37	8	144550706	144550706	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr8:144550706C>T	ENST00000262577.5	-	7	1982	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	651					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)			CGCTGCACTGCCCGGCTGCAG	0.662																																																	0													27.0	32.0	30.0					8																	144550706		2187	4296	6483	SO:0001583	missense	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.1951G>A	8.37:g.144550706C>T	ENSP00000262577:p.Ala651Thr		Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.A651T	ENST00000262577.5	37	c.1951	CCDS6402.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326707	0.81690	.	.	ENSG00000014164	ENST00000262577	T	0.03386	3.95	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.14056	0.0340	M	0.68952	2.095	0.80722	D	1	D	0.53312	0.959	P	0.56343	0.796	T	0.00292	-1.1842	10	0.59425	D	0.04	-18.0184	18.4507	0.90703	0.0:1.0:0.0:0.0	.	651	Q8IXZ2	ZC3H3_HUMAN	T	651	ENSP00000262577:A651T	ENSP00000262577:A651T	A	-	1	0	ZC3H3	144621849	1.000000	0.71417	0.998000	0.56505	0.230000	0.25150	7.212000	0.77941	2.383000	0.81215	0.561000	0.74099	GCA	ZC3H3	-	NULL	ENSG00000014164		0.662	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	HGNC	protein_coding	OTTHUMT00000382011.2		0.00	47	0	C	NM_015117		144550706	-1			no_errors	ENST00000262577	ensembl	human	known	74_37	missense	5.13	74	4	SNP	1.000	T
ZDHHC11	79844	genome.wustl.edu	37	5	840629	840629	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr5:840629G>A	ENST00000283441.8	-	5	1148	c.765C>T	c.(763-765)ctC>ctT	p.L255L	ZDHHC11_ENST00000424784.2_Silent_p.L255L|ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000511539.1_Silent_p.L42L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	255						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TGTGGAAGATGAGCAGCTGGC	0.582																																																	0													115.0	118.0	117.0					5																	840629		2203	4300	6503	SO:0001819	synonymous_variant	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.765C>T	5.37:g.840629G>A			Q6UWR9	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.L255	ENST00000283441.8	37	c.765	CCDS3857.1	5																																																																																			ZDHHC11	-	NULL	ENSG00000188818		0.582	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	-	0.00	91	0	G	NM_024786		840629	-1	tier1	-	no_errors	ENST00000283441	ensembl	human	known	74_37	silent	19.74	61	15	SNP	0.002	A
ZFYVE26	23503	genome.wustl.edu	37	14	68256264	68256264	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr14:68256264G>T	ENST00000347230.4	-	16	2945	c.2807C>A	c.(2806-2808)tCt>tAt	p.S936Y	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S936Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	936					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.S936C(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGGGTCTCCAGAGGTGTTGAG	0.522																																																	1	Substitution - Missense(1)	lung(1)											116.0	121.0	119.0					14																	68256264		2203	4300	6503	SO:0001583	missense	0			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.2807C>A	14.37:g.68256264G>T	ENSP00000251119:p.Ser936Tyr		B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.S936Y	ENST00000347230.4	37	c.2807	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816444	0.90790	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.31247	1.65;1.5	5.74	5.74	0.90152	.	0.174899	0.52532	D	0.000078	T	0.54127	0.1839	M	0.65975	2.015	0.46011	D	0.998818	D;D	0.63880	0.993;0.976	P;P	0.61592	0.891;0.656	T	0.53641	-0.8410	10	0.66056	D	0.02	-9.7808	19.9351	0.97137	0.0:0.0:1.0:0.0	.	936;936	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Y	936;915;936	ENSP00000251119:S936Y;ENSP00000450603:S936Y	ENSP00000251119:S936Y	S	-	2	0	ZFYVE26	67326017	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	7.551000	0.82182	2.703000	0.92315	0.655000	0.94253	TCT	ZFYVE26	-	NULL	ENSG00000072121		0.522	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2		0.00	33	0	G	NM_015346		68256264	-1			no_errors	ENST00000347230	ensembl	human	known	74_37	missense	5.00	38	2	SNP	1.000	T
ZNF23	7571	genome.wustl.edu	37	16	71482777	71482777	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:71482777C>G	ENST00000393539.2	-	6	1964	c.1151G>C	c.(1150-1152)aGa>aCa	p.R384T	ZNF23_ENST00000417828.1_Missense_Mutation_p.R384T|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.R384T|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.R326T|ZNF23_ENST00000428724.2_Missense_Mutation_p.R326T|ZNF23_ENST00000358700.2_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TGTGTGGATTCTCTGATGCTG	0.433																																																	0													70.0	64.0	66.0					16																	71482777		2198	4300	6498	SO:0001583	missense	0			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.1151G>C	16.37:g.71482777C>G	ENSP00000377171:p.Arg384Thr		Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R384T	ENST00000393539.2	37	c.1151	CCDS10900.1	16	.	.	.	.	.	.	.	.	.	.	C	11.39	1.624366	0.28889	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000201	T	0.10766	0.0263	M	0.67625	2.065	0.29410	N	0.86128	P;D	0.89917	0.949;1.0	P;D	0.79784	0.636;0.993	T	0.00577	-1.1662	10	0.87932	D	0	-34.6092	8.0506	0.30575	0.0:0.8927:0.0:0.1073	.	384;384	B3KR55;P17027	.;ZNF23_HUMAN	T	384;384;384;326;326;184	ENSP00000377171:R384T;ENSP00000349796:R384T;ENSP00000395712:R384T;ENSP00000387673:R326T	ENSP00000349796:R384T	R	-	2	0	ZNF23	70040278	0.000000	0.05858	0.995000	0.50966	0.939000	0.58152	0.820000	0.27323	2.595000	0.87683	0.555000	0.69702	AGA	ZNF23	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167377		0.433	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	0.00	102	0	C	NM_145911		71482777	-1	tier1	-	no_errors	ENST00000357254	ensembl	human	known	74_37	missense	26.67	66	24	SNP	0.921	G
ZNF343	79175	genome.wustl.edu	37	20	2464529	2464529	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:2464529G>A	ENST00000278772.4	-	6	1565	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	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)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCG	0.507																																																	0													105.0	83.0	90.0					20																	2464529		2203	4300	6503	SO:0001587	stop_gained	0			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1078C>T	20.37:g.2464529G>A	ENSP00000278772:p.Arg360*		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	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.R360*	ENST00000278772.4	37	c.1078	CCDS13028.1	20	.	.	.	.	.	.	.	.	.	.	G	37	6.279448	0.97435	.	.	ENSG00000088876	ENST00000278772	.	.	.	3.09	-3.55	0.04639	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	0.7103	0.00923	0.2019:0.1504:0.2121:0.4356	.	.	.	.	X	360	.	ENSP00000278772:R360X	R	-	1	2	ZNF343	2412529	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	0.080000	0.14802	-0.421000	0.07416	0.591000	0.81541	CGA	ZNF343	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000088876		0.507	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	-	0.00	91	0	G	NM_024325		2464529	-1	tier1	-	no_errors	ENST00000278772	ensembl	human	known	74_37	nonsense	16.84	79	16	SNP	0.166	A
ZNF730	100129543	genome.wustl.edu	37	19	23328592	23328592	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:23328592T>A	ENST00000597761.2	+	4	945	c.746T>A	c.(745-747)aTt>aAt	p.I249N		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CATAAGAGAATTCATACTGGA	0.318																																																	0																																										SO:0001583	missense	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.746T>A	19.37:g.23328592T>A	ENSP00000472959:p.Ile249Asn			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.I249N	ENST00000597761.2	37	c.746	CCDS59371.1	19	.	.	.	.	.	.	.	.	.	.	t	6.130	0.392234	0.11638	.	.	ENSG00000183850	ENST00000327867	.	.	.	0.897	0.897	0.19258	.	.	.	.	.	T	0.52240	0.1722	M	0.73372	2.23	0.27545	N	0.950687	.	.	.	.	.	.	T	0.50004	-0.8878	6	0.62326	D	0.03	.	6.7228	0.23340	0.0:0.0:0.0:1.0	.	.	.	.	N	249	.	ENSP00000329365:I249N	I	+	2	0	ZNF730	23120432	0.000000	0.05858	0.196000	0.23383	0.195000	0.23768	0.080000	0.14802	0.251000	0.21505	0.248000	0.18094	ATT	ZNF730	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183850		0.318	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	-	0.00	51	0	T	XM_001719792		23328592	+1	tier1	-	no_errors	ENST00000597761	ensembl	human	known	74_37	missense	23.64	42	13	SNP	0.996	A
ZNF607	84775	genome.wustl.edu	37	19	38189230	38189230	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:38189230G>A	ENST00000355202.4	-	5	2397	c.1802C>T	c.(1801-1803)gCt>gTt	p.A601V	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.A600V	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			AAGATGTGAAGCATGACTAAA	0.388																																																	0													63.0	60.0	61.0					19																	38189230		2203	4300	6503	SO:0001583	missense	0			AK127464	CCDS33006.1, CCDS54259.1	19q13.1	2013-01-08				ENSG00000198182		"""Zinc fingers, C2H2-type"", ""-"""	28192	protein-coding gene	gene with protein product						14702039	Standard	NM_032689		Approved	MGC13071, FLJ14802	uc002ohc.2	Q96SK3		ENST00000355202.4:c.1802C>T	19.37:g.38189230G>A	ENSP00000347338:p.Ala601Val		F5H141|Q6ZMN2|Q6ZMN4|Q96C40	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.A601V	ENST00000355202.4	37	c.1802	CCDS33006.1	19	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738188	0.49045	.	.	ENSG00000198182	ENST00000355202;ENST00000395835	T;T	0.34275	1.37;1.37	1.96	-3.91	0.04168	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17023	0.0409	N	0.21240	0.645	0.09310	N	1	B;B	0.30406	0.005;0.278	B;B	0.31442	0.002;0.13	T	0.23547	-1.0185	9	0.20046	T	0.44	.	1.5033	0.02481	0.2266:0.2727:0.3643:0.1363	.	601;600	Q96SK3;F5H141	ZN607_HUMAN;.	V	601;600	ENSP00000347338:A601V;ENSP00000438015:A600V	ENSP00000347338:A601V	A	-	2	0	ZNF607	42881070	0.000000	0.05858	0.000000	0.03702	0.907000	0.53573	-6.454000	0.00065	-1.281000	0.02399	0.462000	0.41574	GCT	ZNF607	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198182		0.388	ZNF607-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF607	HGNC	protein_coding	OTTHUMT00000459502.2	-	0.00	54	0	G	NM_032689		38189230	-1	tier1	-	no_errors	ENST00000355202	ensembl	human	known	74_37	missense	32.14	57	27	SNP	0.000	A
ZNF578	147660	genome.wustl.edu	37	19	52960393	52960393	+	Intron	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:52960393C>T	ENST00000421239.2	+	2	123				ZNF578_ENST00000596382.1_3'UTR	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ctctgaccttcttttgccttc	0.498																																																	0																																										SO:0001627	intron_variant	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.-122+182C>T	19.37:g.52960393C>T			B4DR51|I3L1Y6	RNA	SNP	-	NULL	ENST00000421239.2	37	NULL	CCDS54310.1	19																																																																																			ZNF578	-	-	ENSG00000258405		0.498	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	10	0	C	NM_152472		52960393	+1	tier1	-	no_errors	ENST00000596382	ensembl	human	known	74_37	rna	30.77	9	4	SNP	0.051	T
ZNF578	147660	genome.wustl.edu	37	19	53014575	53014575	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:53014575C>T	ENST00000421239.2	+	6	1185	c.941C>T	c.(940-942)cCt>cTt	p.P314L	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GGTGAGAAACCTTACAAGTGT	0.413																																																	0													100.0	103.0	102.0					19																	53014575		2203	4300	6503	SO:0001583	missense	0			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.941C>T	19.37:g.53014575C>T	ENSP00000459216:p.Pro314Leu		B4DR51|I3L1Y6	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.P314L	ENST00000421239.2	37	c.941	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	12.98	2.101054	0.37048	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.37	1.37	0.22104	.	.	.	.	.	T	0.51278	0.1665	M	0.80508	2.5	0.33283	D	0.562506	P	0.44380	0.834	B	0.38985	0.287	T	0.65150	-0.6238	7	.	.	.	.	9.8052	0.40789	0.0:1.0:0.0:0.0	.	314	G3V4F6	.	L	314	.	.	P	+	2	0	ZNF578	57706387	0.028000	0.19301	0.127000	0.21898	0.345000	0.29048	0.960000	0.29253	0.767000	0.33267	0.297000	0.19635	CCT	ZNF578	-	pfscan_Znf_C2H2	ENSG00000258405		0.413	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	-	0.00	114	0	C	NM_152472		53014575	+1	tier1	-	no_errors	ENST00000421239	ensembl	human	known	74_37	missense	30.36	78	34	SNP	0.980	T
ZNF525	170958	genome.wustl.edu	37	19	53884598	53884598	+	5'Flank	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:53884598C>T	ENST00000355326.3	+	0	0				ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Nonsense_Mutation_p.R256*|ZNF525_ENST00000467003.1_Nonsense_Mutation_p.R220*			Q8N782	ZN525_HUMAN	zinc finger protein 525						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)|lung(3)	9						TATTCGGAAGCGATACCTTGC	0.393																																																	0																																										SO:0001631	upstream_gene_variant	0			AB075859		19q13.42	2013-01-16			ENSG00000203326	ENSG00000203326		"""Zinc fingers, C2H2-type"", ""-"""	29423	protein-coding gene	gene with protein product						11853319	Standard	NR_003699		Approved	KIAA1979	uc010eqn.3	Q8N782	OTTHUMG00000158277		19.37:g.53884598C>T	Exception_encountered		Q8TF23	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.R256*	ENST00000355326.3	37	c.766		19	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148039	0.57151	.	.	ENSG00000203326	ENST00000474037;ENST00000467003	.	.	.	1.33	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	0.5371	0.00638	0.3269:0.1922:0.3047:0.1763	.	.	.	.	X	256;220	.	ENSP00000419136:R220X	R	+	1	2	ZNF525	58576410	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.422000	0.02453	-0.924000	0.03780	0.298000	0.19748	CGA	ZNF525	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000203326		0.393	ZNF525-201	KNOWN	basic	protein_coding	ZNF525	HGNC	protein_coding			0.00	108	0	C	NR_003699		53884598	+1			no_errors	ENST00000474037	ensembl	human	putative	74_37	nonsense	6.02	78	5	SNP	0.000	T
ZNF821	55565	genome.wustl.edu	37	16	71894238	71894238	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr16:71894238G>A	ENST00000565601.1	-	7	1329	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	ZNF821_ENST00000446827.2_Missense_Mutation_p.R266C|ZNF821_ENST00000425432.1_Missense_Mutation_p.R308C|ZNF821_ENST00000564134.1_3'UTR|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000313565.6_Missense_Mutation_p.R266C	NM_001201553.1	NP_001188482.1	O75541	ZN821_HUMAN	zinc finger protein 821	308					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						TCCTGCATGCGCTGCAAGCGC	0.677																																																	0													34.0	33.0	33.0					16																	71894238		2198	4300	6498	SO:0001583	missense	0			AF070588	CCDS32481.1, CCDS56006.1, CCDS73911.1	16q22.3	2008-05-02				ENSG00000102984		"""Zinc fingers, C2H2-type"""	28043	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_017530		Approved		uc021tlb.1	O75541		ENST00000565601.1:c.922C>T	16.37:g.71894238G>A	ENSP00000455648:p.Arg308Cys		A6NK48|B4DKK4|D3DWS3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R308C	ENST00000565601.1	37	c.922	CCDS56006.1	16	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073616	0.76415	.	.	ENSG00000102984	ENST00000425432;ENST00000313565;ENST00000446827	T;T;T	0.02837	5.68;4.14;4.14	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	L	0.60067	1.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.99;0.994;0.99	T	0.00013	-1.2421	10	0.87932	D	0	-9.183	20.4214	0.99039	0.0:0.0:1.0:0.0	.	308;266;308	B4DKK4;O75541-2;O75541	.;.;ZN821_HUMAN	C	308;266;266	ENSP00000398089:R308C;ENSP00000313822:R266C;ENSP00000405908:R266C	ENSP00000313822:R266C	R	-	1	0	ZNF821	70451739	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.699000	0.61796	2.820000	0.97059	0.655000	0.94253	CGC	ZNF821	-	NULL	ENSG00000102984		0.677	ZNF821-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF821	HGNC	protein_coding	OTTHUMT00000434180.1		0.00	69	0	G	NM_017530		71894238	-1			no_errors	ENST00000425432	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47864704	47864704	+	Silent	SNP	G	G	A			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr20:47864704G>A	ENST00000396105.1	-	14	5103	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Silent_p.C1619C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1619							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCAGATAGGGCAGACTTTCA	0.483																																																	0													62.0	61.0	61.0					20																	47864704		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.4857C>T	20.37:g.47864704G>A			Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.C1619	ENST00000396105.1	37	c.4857	CCDS13417.1	20																																																																																			ZNFX1	-	NULL	ENSG00000124201		0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	-	0.00	30	0	G	NM_021035		47864704	-1	tier1	-	no_errors	ENST00000371752	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	A
ZNRF4	148066	genome.wustl.edu	37	19	5456256	5456256	+	Silent	SNP	C	C	T			TCGA-IG-A97I-01A-11D-A387-09	TCGA-IG-A97I-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	aa1ded71-e3fe-4ad9-b9de-aafa3da72d71	fcd83c0f-4889-4682-8cfc-eac824708060	g.chr19:5456256C>T	ENST00000222033.4	+	1	831	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	252						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		TCACCCCGTGCTGACCGTGTC	0.677																																																	0													44.0	47.0	46.0					19																	5456256		2170	4261	6431	SO:0001819	synonymous_variant	0			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.754C>T	19.37:g.5456256C>T			A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L252	ENST00000222033.4	37	c.754	CCDS42475.1	19																																																																																			ZNRF4	-	NULL	ENSG00000105428		0.677	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	-	0.00	59	0	C	NM_181710		5456256	+1	tier1	-	no_errors	ENST00000222033	ensembl	human	known	74_37	silent	38.00	31	19	SNP	0.042	T
