#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACSL4	2182	genome.wustl.edu	37	X	108921590	108921590	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chrX:108921590G>C	ENST00000469796.2	-	7	1229	c.833C>G	c.(832-834)aCt>aGt	p.T278S	ACSL4_ENST00000348502.6_Missense_Mutation_p.T237S|ACSL4_ENST00000340800.2_Missense_Mutation_p.T278S			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	278					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AGAACCACTAGTATACATAAC	0.418																																					Pancreas(188;358 2127 38547 41466 45492)	dbGAP											0													135.0	115.0	121.0					X																	108921590		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.833C>G	X.37:g.108921590G>C	ENSP00000419171:p.Thr278Ser		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.T278S	ENST00000469796.2	37	c.833	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617154	0.87359	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.75367	-0.93;-0.93;-0.93	5.57	4.7	0.59300	AMP-dependent synthetase/ligase (1);AMP-binding, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91232	0.5015	10	0.87932	D	0	-12.3314	13.974	0.64259	0.0762:0.0:0.9238:0.0	.	278	O60488	ACSL4_HUMAN	S	237;278;278	ENSP00000262835:T237S;ENSP00000419171:T278S;ENSP00000339787:T278S	ENSP00000339787:T278S	T	-	2	0	ACSL4	108808246	1.000000	0.71417	0.980000	0.43619	0.991000	0.79684	9.476000	0.97823	2.339000	0.79563	0.600000	0.82982	ACT	ACSL4	-	pfam_AMP-dep_Synth/Lig	ENSG00000068366		0.418	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	218	0.00	0	G	NM_004458		108921590	108921590	-1	no_errors	ENST00000340800	ensembl	human	known	69_37n	missense	110	35.29	60	SNP	1.000	C
ADCY8	114	genome.wustl.edu	37	8	131793094	131793094	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr8:131793094C>T	ENST00000286355.5	-	18	5390	c.3298G>A	c.(3298-3300)Gtt>Att	p.V1100I	ADCY8_ENST00000377928.3_Missense_Mutation_p.V969I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1100					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCGCCGATAACGCCAGCTACC	0.577										HNSCC(32;0.087)																												dbGAP											0													100.0	102.0	101.0					8																	131793094		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3298G>A	8.37:g.131793094C>T	ENSP00000286355:p.Val1100Ile			Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.V1100I	ENST00000286355.5	37	c.3298	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.535266	0.96460	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.83250	-1.7;-1.7	6.03	6.03	0.97812	Adenylyl cyclase class-3/4/guanylyl cyclase, conserved site (1);Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.91798	0.7405	M	0.81341	2.54	0.44531	D	0.997486	D;D	0.76494	0.971;0.999	D;D	0.79108	0.937;0.992	D	0.91360	0.5111	10	0.56958	D	0.05	.	19.545	0.95291	0.0:1.0:0.0:0.0	.	969;1100	E7EVL1;P40145	.;ADCY8_HUMAN	I	1100;969	ENSP00000286355:V1100I;ENSP00000367161:V969I	ENSP00000286355:V1100I	V	-	1	0	ADCY8	131862276	1.000000	0.71417	0.868000	0.34077	0.997000	0.91878	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GTT	ADCY8	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000155897		0.577	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	316	0.00	0	C			131793094	131793094	-1	no_errors	ENST00000286355	ensembl	human	known	69_37n	missense	215	32.92	106	SNP	1.000	T
ARHGAP12	94134	genome.wustl.edu	37	10	32143011	32143011	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr10:32143011C>T	ENST00000344936.2	-	5	1306	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	ARHGAP12_ENST00000311380.4_Intron|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.D358N|ARHGAP12_ENST00000375245.4_Intron|ARHGAP12_ENST00000375250.5_Missense_Mutation_p.D358N	NM_001270697.1|NM_018287.6	NP_001257626.1|NP_060757.4	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	358	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				morphogenesis of an epithelial sheet (GO:0002011)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TTAGTATAGTCACTGGTATAT	0.378																																						dbGAP											0													116.0	108.0	111.0					10																	32143011		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY033594	CCDS7170.1, CCDS59214.1, CCDS59215.1, CCDS59216.1, CCDS73082.1	10p11.22	2013-01-10			ENSG00000165322	ENSG00000165322		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16348	protein-coding gene	gene with protein product		610577				11854031	Standard	NM_001270695		Approved	FLJ20737, FLJ10971, FLJ21785	uc001ivz.2	Q8IWW6	OTTHUMG00000017911	ENST00000344936.2:c.1072G>A	10.37:g.32143011C>T	ENSP00000345808:p.Asp358Asn		B1ANY0|B1ANY1|B1ANY2|Q504X1|Q86UB3|Q8IWW7|Q8N3L1|Q9NT76	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_SH3_domain,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.D358N	ENST00000344936.2	37	c.1072	CCDS7170.1	10	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269217	0.80469	.	.	ENSG00000165322	ENST00000375250;ENST00000344936;ENST00000396144	T;T;T	0.07800	3.16;3.22;3.23	5.52	5.52	0.82312	.	0.101098	0.64402	D	0.000002	T	0.18087	0.0434	N	0.25647	0.755	0.80722	D	1	D;D;D;D	0.71674	0.995;0.997;0.998;0.998	P;D;P;P	0.64687	0.848;0.928;0.848;0.848	T	0.01630	-1.1308	10	0.37606	T	0.19	.	19.8	0.96502	0.0:1.0:0.0:0.0	.	358;358;358;358	B3KR88;Q8IWW6-2;Q504X1;Q8IWW6	.;.;.;RHG12_HUMAN	N	358	ENSP00000364399:D358N;ENSP00000345808:D358N;ENSP00000379448:D358N	ENSP00000345808:D358N	D	-	1	0	ARHGAP12	32183017	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.444000	0.80532	2.753000	0.94483	0.557000	0.71058	GAC	ARHGAP12	-	NULL	ENSG00000165322		0.378	ARHGAP12-009	KNOWN	basic|CCDS	protein_coding	ARHGAP12	HGNC	protein_coding	OTTHUMT00000047465.1	62	0.00	0	C			32143011	32143011	-1	no_errors	ENST00000344936	ensembl	human	known	69_37n	missense	67	16.05	13	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27106498	27106498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:27106498C>T	ENST00000324856.7	+	20	6480	c.6109C>T	c.(6109-6111)Cag>Tag	p.Q2037*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q365*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1654*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1820*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2037					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q2037*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGAGGAGGAACAGGACCAAGG	0.567			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)											149.0	143.0	145.0					1																	27106498		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6109C>T	1.37:g.27106498C>T	ENSP00000320485:p.Gln2037*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q2037*	ENST00000324856.7	37	c.6109	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.771195|9.771195	0.99260|0.99260	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.347329|.	0.31872|.	N|.	0.006927|.	.|T	.|0.69142	.|0.3078	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.66697	.|-0.5858	.|4	0.37606|.	T|.	0.19|.	-6.3725|-6.3725	13.7778|13.7778	0.63064|0.63064	0.1534:0.8466:0.0:0.0|0.1534:0.8466:0.0:0.0	.|.	.|.	.|.	.|.	X|I	2037;1820;1654;365|933	.|.	ENSP00000320485:Q2037X|.	Q|T	+|+	1|2	0|0	ARID1A|ARID1A	26979085|26979085	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.543000|3.543000	0.53633|0.53633	2.762000|2.762000	0.94881|0.94881	0.591000|0.591000	0.81541|0.81541	CAG|ACA	ARID1A	-	pfam_DUF3518	ENSG00000117713		0.567	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	308	0.00	0	C	NM_139135		27106498	27106498	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	nonsense	119	43.06	90	SNP	1.000	T
ATR	545	genome.wustl.edu	37	3	142231145	142231145	+	Silent	SNP	T	T	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr3:142231145T>C	ENST00000350721.4	-	27	4930	c.4809A>G	c.(4807-4809)aaA>aaG	p.K1603K	ATR_ENST00000383101.3_Silent_p.K1539K	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1603					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGTGTGGACATTTCTCAGCTT	0.393								Other conserved DNA damage response genes																														dbGAP											0													200.0	176.0	184.0					3																	142231145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4809A>G	3.37:g.142231145T>C			Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.K1603	ENST00000350721.4	37	c.4809	CCDS3124.1	3																																																																																			ATR	-	NULL	ENSG00000175054		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	157	0.00	0	T	NM_001184		142231145	142231145	-1	no_errors	ENST00000350721	ensembl	human	known	69_37n	silent	196	15.52	36	SNP	0.505	C
B3GAT3	26229	genome.wustl.edu	37	11	62383253	62383253	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr11:62383253G>A	ENST00000265471.5	-	5	1155	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	B3GAT3_ENST00000531383.1_3'UTR	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	310					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TTCTCTGTCCGAGTATGCCAC	0.627																																						dbGAP											0													54.0	48.0	50.0					11																	62383253		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.928C>T	11.37:g.62383253G>A	ENSP00000265471:p.Arg310Trp		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R310W	ENST00000265471.5	37	c.928	CCDS8025.1	11	.	.	.	.	.	.	.	.	.	.	G	18.96	3.732952	0.69189	.	.	ENSG00000149541	ENST00000265471	T	0.70516	-0.49	4.94	3.93	0.45458	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90223	0.4273	10	0.87932	D	0	.	13.5525	0.61740	0.0:0.0:0.8334:0.1666	.	316;310	Q5U676;O94766	.;B3GA3_HUMAN	W	310	ENSP00000265471:R310W	ENSP00000265471:R310W	R	-	1	2	B3GAT3	62139829	0.997000	0.39634	0.969000	0.41365	0.981000	0.71138	2.454000	0.44979	2.292000	0.77174	0.561000	0.74099	CGG	B3GAT3	-	pfam_Glyco_trans_43	ENSG00000149541		0.627	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT3	HGNC	protein_coding	OTTHUMT00000395588.1	31	0.00	0	G	NM_012200		62383253	62383253	-1	no_errors	ENST00000265471	ensembl	human	known	69_37n	missense	7	56.25	9	SNP	0.981	A
CAMK2D	817	genome.wustl.edu	37	4	114378512	114378512	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr4:114378512C>T	ENST00000342666.5	-	17	1411	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	CAMK2D_ENST00000511664.1_Missense_Mutation_p.G505E|CAMK2D_ENST00000454265.2_Missense_Mutation_p.G496E|CAMK2D_ENST00000418639.2_Missense_Mutation_p.G485E|CAMK2D_ENST00000394524.3_Missense_Mutation_p.G471E|CAMK2D_ENST00000379773.2_Missense_Mutation_p.G471E|CAMK2D_ENST00000508738.1_Missense_Mutation_p.G482E|CAMK2D_ENST00000394526.2_Missense_Mutation_p.G482E|CAMK2D_ENST00000515496.1_Missense_Mutation_p.G482E|CAMK2D_ENST00000429180.1_Missense_Mutation_p.G491E|CAMK2D_ENST00000394522.3_Missense_Mutation_p.G485E|CAMK2D_ENST00000505990.1_Missense_Mutation_p.G505E|CAMK2D_ENST00000296402.5_Missense_Mutation_p.G471E|CAMK2D_ENST00000514328.1_Missense_Mutation_p.G470E			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	471					calcium ion transport (GO:0006816)|cardiac muscle cell contraction (GO:0086003)|cellular response to calcium ion (GO:0071277)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle cell action potential (GO:0098901)|regulation of cardiac muscle cell action potential involved in regulation of contraction (GO:0098909)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of cell growth (GO:0001558)|regulation of cellular localization (GO:0060341)|regulation of generation of L-type calcium current (GO:1902514)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of histone deacetylase activity (GO:1901725)|regulation of membrane depolarization (GO:0003254)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of the force of heart contraction (GO:0002026)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|relaxation of cardiac muscle (GO:0055119)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|calcium channel complex (GO:0034704)|calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intercalated disc (GO:0014704)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|sodium channel inhibitor activity (GO:0019871)|titin binding (GO:0031432)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGTTGGTGACCCCGAGCGATG	0.463																																						dbGAP											0													101.0	91.0	95.0					4																	114378512		2203	4300	6503	-	-	-	SO:0001583	missense	0			U50361	CCDS3703.1, CCDS3704.1, CCDS43263.1, CCDS47127.1, CCDS54797.1	4q26	2008-10-30	2008-10-30		ENSG00000145349	ENSG00000145349			1462	protein-coding gene	gene with protein product		607708	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II delta"""	CAMKD			Standard	NM_001221		Approved		uc003ibi.3	Q13557	OTTHUMG00000132910	ENST00000342666.5:c.1412G>A	4.37:g.114378512C>T	ENSP00000339740:p.Gly471Glu		A8MVS8|Q52PK4|Q59G21|Q8N553|Q9UGH6|Q9UQE9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.G496E	ENST00000342666.5	37	c.1487	CCDS3703.1	4	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801460	0.90538	.	.	ENSG00000145349	ENST00000394524;ENST00000454265;ENST00000429180;ENST00000418639;ENST00000394526;ENST00000296402;ENST00000511664;ENST00000342666;ENST00000515496;ENST00000514328;ENST00000394522;ENST00000505990;ENST00000379773;ENST00000508738	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.93	5.93	0.95920	Protein kinase-like domain (1);Calcium/calmodulin-dependent protein kinase II, association-domain (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.84683	2.71	0.80722	D	1	P;D;D;B;D	0.89917	0.857;1.0;1.0;0.124;1.0	P;D;D;B;D	0.79108	0.597;0.992;0.992;0.169;0.992	T	0.72959	-0.4133	10	0.62326	D	0.03	.	20.3396	0.98756	0.0:1.0:0.0:0.0	.	505;482;485;471;471	E9PF82;Q13557-3;Q13557-6;Q13557-12;Q13557	.;.;.;.;KCC2D_HUMAN	E	471;496;491;485;482;471;505;471;482;470;485;505;471;482	ENSP00000378032:G471E;ENSP00000415248:G496E;ENSP00000415707:G491E;ENSP00000406131:G485E;ENSP00000378034:G482E;ENSP00000296402:G471E;ENSP00000425824:G505E;ENSP00000339740:G471E;ENSP00000423482:G482E;ENSP00000423677:G470E;ENSP00000378030:G485E;ENSP00000424245:G505E;ENSP00000369098:G471E;ENSP00000422566:G482E	ENSP00000296402:G471E	G	-	2	0	CAMK2D	114597961	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.395000	0.79876	2.812000	0.96745	0.555000	0.69702	GGG	CAMK2D	-	pfam_Ca/CaM-dep_prot_kinase-assoc,superfamily_Kinase-like_dom	ENSG00000145349		0.463	CAMK2D-003	KNOWN	basic|CCDS	protein_coding	CAMK2D	HGNC	protein_coding	OTTHUMT00000256420.2	175	0.00	0	C			114378512	114378512	-1	no_errors	ENST00000454265	ensembl	human	known	69_37n	missense	165	17.82	36	SNP	1.000	T
CCDC61	729440	genome.wustl.edu	37	19	46509884	46509885	+	Frame_Shift_Ins	INS	-	-	G	rs539835281		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr19:46509884_46509885insG	ENST00000595358.1	+	4	348_349	c.299_300insG	c.(298-303)atggggfs	p.MG100fs	CCDC61_ENST00000536603.1_Frame_Shift_Ins_p.MG100fs|CCDC61_ENST00000594087.1_Frame_Shift_Ins_p.MG100fs|CCDC61_ENST00000263284.2_Frame_Shift_Ins_p.MG157fs	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	100						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACCGCAAGATGGGGGGCCGCC	0.624																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.305dupG	19.37:g.46509890_46509890dupG	ENSP00000471454:p.Met100fs		C8CAP4|Q9HDB6	Frame_Shift_Ins	INS	NULL	p.R160fs	ENST00000595358.1	37	c.470_471	CCDS46120.2	19																																																																																			CCDC61	-	NULL	ENSG00000104983		0.624	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	34	0.00	0	-	NM_001080402		46509884	46509885	+1	no_errors	ENST00000263284	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	1.000:1.000	G
CDK18	5129	genome.wustl.edu	37	1	205493367	205493367	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:205493367delG	ENST00000360066.2	+	4	582	c.281delG	c.(280-282)agcfs	p.S94fs	CDK18_ENST00000509056.1_Intron|CDK18_ENST00000429964.2_Frame_Shift_Del_p.S94fs|CDK18_ENST00000506784.1_Frame_Shift_Del_p.S124fs	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	92							ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CAGGACGTCAGCAAGAGGCTC	0.582											OREG0014156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(180;489 2072 28461 40831 44265)	dbGAP											0													119.0	106.0	110.0					1																	205493367		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.281delG	1.37:g.205493367delG	ENSP00000353176:p.Ser94fs	2152	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S124fs	ENST00000360066.2	37	c.371	CCDS44300.1	1																																																																																			CDK18	-	NULL	ENSG00000117266		0.582	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	187	0.00	0	G	NM_002596		205493367	205493367	+1	no_errors	ENST00000506784	ensembl	human	known	69_37n	frame_shift_del	75	53.37	87	DEL	1.000	-
CFTR	1080	genome.wustl.edu	37	7	117188875	117188875	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr7:117188875A>T	ENST00000003084.6	+	10	1522	c.1390A>T	c.(1390-1392)Aag>Tag	p.K464*	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	464	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TGGAGCAGGCAAGGTAGTTCT	0.378									Cystic Fibrosis																													dbGAP											0													37.0	36.0	36.0					7																	117188875		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1390A>T	7.37:g.117188875A>T	ENSP00000003084:p.Lys464*		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Nonsense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.K464*	ENST00000003084.6	37	c.1390	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	A	37	6.475615	0.97598	.	.	ENSG00000001626	ENST00000003084;ENST00000426809	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.2567	14.7177	0.69284	1.0:0.0:0.0:0.0	.	.	.	.	X	464;434	.	ENSP00000003084:K464X	K	+	1	0	CFTR	116976111	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.495000	0.90481	1.940000	0.56252	0.528000	0.53228	AAG	CFTR	-	superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.378	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	51	0.00	0	A	NM_000492		117188875	117188875	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	nonsense	31	40.38	21	SNP	1.000	T
CHD9	80205	genome.wustl.edu	37	16	53308140	53308140	+	Silent	SNP	G	G	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:53308140G>A	ENST00000398510.3	+	23	4980	c.4893G>A	c.(4891-4893)gtG>gtA	p.V1631V	CHD9_ENST00000447540.1_Silent_p.V1631V|CHD9_ENST00000566029.1_Silent_p.V1631V|CHD9_ENST00000564845.1_Silent_p.V1631V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1631					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGCTTCGTGTGAGAATGCTGT	0.308																																						dbGAP											0													128.0	110.0	116.0					16																	53308140		1834	4091	5925	-	-	-	SO:0001819	synonymous_variant	0			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4893G>A	16.37:g.53308140G>A			B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V1631	ENST00000398510.3	37	c.4893		16																																																																																			CHD9	-	NULL	ENSG00000177200		0.308	CHD9-020	KNOWN	basic	protein_coding	CHD9	HGNC	protein_coding	OTTHUMT00000422345.1	55	0.00	0	G	NM_025134		53308140	53308140	+1	no_errors	ENST00000398510	ensembl	human	known	69_37n	silent	6	84.21	32	SNP	0.665	A
CHEK2P2	646096	genome.wustl.edu	37	15	20496630	20496630	+	RNA	SNP	G	G	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr15:20496630G>T	ENST00000555186.1	+	0	683					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TCATGAAGGGGAAGCCGAGGG	0.438																																						dbGAP											0																																										-	-	-			0					15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20496630G>T				RNA	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			CHEK2P2	-	-	ENSG00000259156		0.438	CHEK2P2-002	KNOWN	basic	processed_transcript	CHEK2P2	HGNC	pseudogene	OTTHUMT00000414654.1	123	0.00	0	G	NR_038836		20496630	20496630	+1	no_errors	ENST00000555186	ensembl	human	known	69_37n	rna	101	17.21	21	SNP	0.401	T
CUBN	8029	genome.wustl.edu	37	10	16975114	16975114	+	Silent	SNP	A	A	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr10:16975114A>G	ENST00000377833.4	-	40	6161	c.6096T>C	c.(6094-6096)tgT>tgC	p.C2032C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2032	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATCATAGGCACACGTTCGGT	0.438																																						dbGAP											0													133.0	118.0	123.0					10																	16975114		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6096T>C	10.37:g.16975114A>G			B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.C2032	ENST00000377833.4	37	c.6096	CCDS7113.1	10																																																																																			CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000107611		0.438	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	134	0.00	0	A	NM_001081		16975114	16975114	-1	no_errors	ENST00000377833	ensembl	human	known	69_37n	silent	90	48.59	86	SNP	0.048	G
CUL9	23113	genome.wustl.edu	37	6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C|CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567																																						dbGAP											0													57.0	60.0	59.0					6																	43171720		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.4154C>G	6.37:g.43171720C>G	ENSP00000252050:p.Ser1385Cys		O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology	p.S1385C	ENST00000252050.4	37	c.4154	CCDS4890.1	6	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968133	0.34754	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.74947	-0.89;-0.89;-0.78	5.88	0.692	0.18050	.	1.173640	0.05880	N	0.626206	T	0.52484	0.1737	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20368	0.044;0.003;0.003	B;B;B	0.22880	0.042;0.021;0.021	T	0.56697	-0.7936	10	0.66056	D	0.02	-8.7272	14.4505	0.67382	0.0:0.4187:0.5192:0.0622	.	1275;1385;1385	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	C	1385;1275;1385	ENSP00000252050:S1385C;ENSP00000346490:S1275C;ENSP00000361730:S1385C	ENSP00000252050:S1385C	S	+	2	0	CUL9	43279698	0.010000	0.17322	0.965000	0.40720	0.956000	0.61745	1.056000	0.30480	0.085000	0.17107	0.655000	0.94253	TCT	CUL9	-	NULL	ENSG00000112659		0.567	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL9	HGNC	protein_coding	OTTHUMT00000040582.2	237	0.00	0	C	NM_015089		43171720	43171720	+1	no_errors	ENST00000252050	ensembl	human	known	69_37n	missense	164	22.27	47	SNP	0.018	G
CYSLTR2	57105	genome.wustl.edu	37	13	49281046	49281046	+	Silent	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr13:49281046C>T	ENST00000282018.3	+	1	96	c.93C>T	c.(91-93)tgC>tgT	p.C31C		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	31					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GCAGGAACTGCACAATTGAAA	0.393																																						dbGAP											0													87.0	90.0	89.0					13																	49281046		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.93C>T	13.37:g.49281046C>T			Q9HCQ2	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_TAS2_rcpt,prints_7TM_GPCR_Rhodpsn,prints_CLT2_recept,prints_Cyst_leuk_rcpt,prints_P2_purnocptor,prints_Protea_act_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.C31	ENST00000282018.3	37	c.93	CCDS9412.1	13																																																																																			CYSLTR2	-	prints_CLT2_recept,prints_Protea_act_rcpt	ENSG00000152207		0.393	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYSLTR2	HGNC	protein_coding	OTTHUMT00000044894.1	127	0.00	0	C			49281046	49281046	+1	no_errors	ENST00000282018	ensembl	human	known	69_37n	silent	15	90.57	144	SNP	0.090	T
DCBLD2	131566	genome.wustl.edu	37	3	98538119	98538119	+	Silent	SNP	C	C	A	rs374878528		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr3:98538119C>A	ENST00000326840.6	-	8	1376	c.1014G>T	c.(1012-1014)ccG>ccT	p.P338P	DCBLD2_ENST00000326857.9_Silent_p.P338P	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	338	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGCCCAAGGCGGTCCAGGTT	0.413																																						dbGAP											0													71.0	61.0	64.0					3																	98538119		1841	4088	5929	-	-	-	SO:0001819	synonymous_variant	0				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.1014G>T	3.37:g.98538119C>A			B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.P338	ENST00000326840.6	37	c.1014	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	C	5.756	0.323927	0.10900	.	.	ENSG00000057019	ENST00000404023	.	.	.	5.25	-1.03	0.10102	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22591	-1.0212	5	0.26408	T	0.33	-17.4831	4.8458	0.13512	0.3626:0.3192:0.3181:0.0	.	.	.	.	S	291	.	ENSP00000385656:A291S	A	-	1	0	DCBLD2	100020809	0.998000	0.40836	0.988000	0.46212	0.565000	0.35776	0.726000	0.25984	-0.139000	0.11414	-0.485000	0.04761	GCC	DCBLD2	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000057019		0.413	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	70	0.00	0	C	NM_080927		98538119	98538119	-1	no_errors	ENST00000326857	ensembl	human	known	69_37n	silent	67	16.05	13	SNP	0.991	A
DGKG	1608	genome.wustl.edu	37	3	186015250	186015250	+	Silent	SNP	A	A	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr3:186015250A>G	ENST00000265022.3	-	5	872	c.333T>C	c.(331-333)gaT>gaC	p.D111D	DGKG_ENST00000544847.1_Silent_p.D111D|DGKG_ENST00000344484.4_Silent_p.D111D|DGKG_ENST00000382164.4_Silent_p.D111D	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	111					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|neuron development (GO:0048666)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGTGGCATTATCTGCATTCT	0.453																																						dbGAP											0													129.0	126.0	127.0					3																	186015250		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF020945	CCDS3274.1, CCDS43181.1, CCDS43182.1	3q27-q28	2013-01-10	2002-08-29		ENSG00000058866	ENSG00000058866	2.7.1.107	"""EF-hand domain containing"""	2853	protein-coding gene	gene with protein product		601854	"""diacylglycerol kinase, gamma (90kD)"""	DAGK3		8034597	Standard	NM_001080744		Approved		uc003fqa.3	P49619	OTTHUMG00000156617	ENST00000265022.3:c.333T>C	3.37:g.186015250A>G			B2RAH4|Q2M1H4|Q5FWG1	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.D111	ENST00000265022.3	37	c.333	CCDS3274.1	3																																																																																			DGKG	-	NULL	ENSG00000058866		0.453	DGKG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKG	HGNC	protein_coding	OTTHUMT00000344800.3	220	0.00	0	A			186015250	186015250	-1	no_errors	ENST00000265022	ensembl	human	known	69_37n	silent	228	10.16	26	SNP	0.576	G
DNMT3B	1789	genome.wustl.edu	37	20	31393152	31393152	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr20:31393152T>C	ENST00000328111.2	+	21	2561	c.2240T>C	c.(2239-2241)aTa>aCa	p.I747T	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Missense_Mutation_p.I739T|DNMT3B_ENST00000353855.2_Missense_Mutation_p.I727T|DNMT3B_ENST00000344505.4_Missense_Mutation_p.I727T|DNMT3B_ENST00000443239.3_Intron	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	747	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGCCCGTGATAGCATCAAAG	0.488																																						dbGAP											0													132.0	121.0	125.0					20																	31393152		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.2240T>C	20.37:g.31393152T>C	ENSP00000328547:p.Ile747Thr		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	pfam_PWWP,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP,pfscan_PWWP	p.I747T	ENST00000328111.2	37	c.2240	CCDS13205.1	20	.	.	.	.	.	.	.	.	.	.	T	12.79	2.042772	0.36085	.	.	ENSG00000088305	ENST00000328111;ENST00000353855;ENST00000344505;ENST00000201963	D;D;T;D	0.97066	-4.23;-4.23;0.98;-4.23	5.48	5.48	0.80851	.	0.226336	0.47852	D	0.000215	D	0.92789	0.7707	N	0.25144	0.715	0.80722	D	1	B;B;B	0.33413	0.012;0.007;0.411	B;B;B	0.33196	0.007;0.007;0.159	D	0.91530	0.5241	10	0.17832	T	0.49	-14.6268	13.8224	0.63331	0.0:0.0:0.0:1.0	.	739;727;747	Q9UBC3-6;Q9UBC3-2;Q9UBC3	.;.;DNM3B_HUMAN	T	747;727;727;739	ENSP00000328547:I747T;ENSP00000313397:I727T;ENSP00000345105:I727T;ENSP00000201963:I739T	ENSP00000201963:I739T	I	+	2	0	DNMT3B	30856813	0.986000	0.35501	1.000000	0.80357	0.997000	0.91878	0.856000	0.27818	2.224000	0.72417	0.533000	0.62120	ATA	DNMT3B	-	NULL	ENSG00000088305		0.488	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMT3B	HGNC	protein_coding	OTTHUMT00000078643.2	235	0.00	0	T	NM_006892		31393152	31393152	+1	no_errors	ENST00000328111	ensembl	human	known	69_37n	missense	119	44.19	95	SNP	1.000	C
EMC8	10328	genome.wustl.edu	37	16	85822653	85822653	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:85822653C>G	ENST00000253457.3	-	2	479	c.235G>C	c.(235-237)Gat>Cat	p.D79H	EMC8_ENST00000435200.2_Missense_Mutation_p.D79H|RP11-568J23.5_ENST00000602706.1_RNA	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	79						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CACCATGAATCAATCTGAAAG	0.428																																						dbGAP											0													152.0	126.0	135.0					16																	85822653		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.235G>C	16.37:g.85822653C>G	ENSP00000253457:p.Asp79His		C9JB21	Missense_Mutation	SNP	pfam_UPF0172	p.D79H	ENST00000253457.3	37	c.235	CCDS10954.1	16	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833347	0.91036	.	.	ENSG00000131148	ENST00000253457;ENST00000435200	T;T	0.48836	0.8;0.8	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69924	-0.5013	10	0.52906	T	0.07	-29.203	19.6758	0.95932	0.0:1.0:0.0:0.0	.	79	O43402	CX4NB_HUMAN	H	79	ENSP00000253457:D79H;ENSP00000391730:D79H	ENSP00000253457:D79H	D	-	1	0	COX4NB	84380154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.356000	0.79445	2.644000	0.89710	0.561000	0.74099	GAT	EMC8	-	pfam_UPF0172	ENSG00000131148		0.428	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMC8	HGNC	protein_coding	OTTHUMT00000269099.1	141	0.00	0	C	NM_006067		85822653	85822653	-1	no_errors	ENST00000253457	ensembl	human	known	69_37n	missense	8	82.22	37	SNP	1.000	G
ERBB4	2066	genome.wustl.edu	37	2	212488741	212488741	+	Missense_Mutation	SNP	G	G	T	rs568046921		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr2:212488741G>T	ENST00000342788.4	-	18	2418	c.2108C>A	c.(2107-2109)aCa>aAa	p.T703K	ERBB4_ENST00000402597.1_Missense_Mutation_p.T693K|ERBB4_ENST00000436443.1_Missense_Mutation_p.T703K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	703					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTGGGTGCTGTGCCACTGGG	0.443										TSP Lung(8;0.080)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		18528	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													103.0	100.0	101.0					2																	212488741		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2108C>A	2.37:g.212488741G>T	ENSP00000342235:p.Thr703Lys		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T703K	ENST00000342788.4	37	c.2108	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.59|16.59	3.166095|3.166095	0.57476|0.57476	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.74947	.|-0.88;-0.89;-0.88	5.74|5.74	5.74|5.74	0.90152|0.90152	.|Protein kinase-like domain (1);	.|0.043855	.|0.85682	.|D	.|0.000000	T|T	0.54062|0.54062	0.1835|0.1835	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;P;P	.|0.37663	.|0.604;0.002;0.604;0.53	.|B;B;B;B	.|0.28385	.|0.044;0.002;0.089;0.056	T|T	0.56183|0.56183	-0.8021|-0.8021	5|9	.|.	.|.	.|.	.|.	19.9351|19.9351	0.97137|0.97137	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|693;693;703;703	.|Q15303-4;Q15303-2;Q15303-3;Q15303	.|.;.;.;ERBB4_HUMAN	K|K	693|703;703;693	.|ENSP00000342235:T703K;ENSP00000403204:T703K;ENSP00000385565:T693K	.|.	Q|T	-|-	1|2	0|0	ERBB4|ERBB4	212196986|212196986	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.992000|0.992000	0.81027|0.81027	9.837000|9.837000	0.99465|0.99465	2.703000|2.703000	0.92315|0.92315	0.655000|0.655000	0.94253|0.94253	CAG|ACA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom	ENSG00000178568		0.443	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	112	0.00	0	G	NM_001042599		212488741	212488741	-1	no_errors	ENST00000342788	ensembl	human	known	69_37n	missense	128	11.11	16	SNP	1.000	T
FAM71C	196472	genome.wustl.edu	37	12	100042152	100042152	+	Missense_Mutation	SNP	G	G	A	rs184425136	byFrequency	TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr12:100042152G>A	ENST00000324341.1	+	1	622	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	67										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		AACCGTGCCCGAATGGTAACA	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		19659	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													138.0	116.0	124.0					12																	100042152		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.200G>A	12.37:g.100042152G>A	ENSP00000315247:p.Arg67Gln		B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.R67Q	ENST00000324341.1	37	c.200	CCDS9072.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	2.310	-0.358226	0.05138	.	.	ENSG00000180219	ENST00000324341	T	0.10005	2.92	4.08	-4.32	0.03688	.	1.226650	0.05828	N	0.616989	T	0.05868	0.0153	N	0.25332	0.735	0.09310	N	1	B	0.18310	0.027	B	0.15870	0.014	T	0.40251	-0.9573	9	.	.	.	1.6601	1.96	0.03384	0.4833:0.138:0.2384:0.1403	.	67	Q8NEG0	FA71C_HUMAN	Q	67	ENSP00000315247:R67Q	.	R	+	2	0	FAM71C	98566283	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.380000	0.01066	-0.957000	0.03627	-1.056000	0.02311	CGA	FAM71C	-	NULL	ENSG00000180219		0.517	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	161	0.00	0	G	NM_153364		100042152	100042152	+1	no_errors	ENST00000324341	ensembl	human	known	69_37n	missense	148	11.90	20	SNP	0.000	A
FUT3	2525	genome.wustl.edu	37	19	5843908	5843908	+	Missense_Mutation	SNP	G	G	T	rs546588597		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr19:5843908G>T	ENST00000303225.6	-	3	1577	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FUT3_ENST00000593144.1_5'Flank|FUT3_ENST00000589918.1_Missense_Mutation_p.R315S|FUT3_ENST00000458379.2_Missense_Mutation_p.R315S|FUT3_ENST00000589620.1_Missense_Mutation_p.R315S	NM_000149.3	NP_000140	P21217	FUT3_HUMAN	fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)	315					cell-cell recognition (GO:0009988)|fucosylation (GO:0036065)|macromolecule glycosylation (GO:0043413)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CTCAGGTAGCGGGCGTGGTCC	0.637																																					Esophageal Squamous(82;745 1728 24593 44831)	dbGAP											0													33.0	35.0	35.0					19																	5843908		2203	4296	6499	-	-	-	SO:0001583	missense	0				CCDS12153.1	19p13.3	2014-07-19	2006-01-12		ENSG00000171124	ENSG00000171124	2.4.1.65	"""CD molecules"", ""Blood group antigens"", ""Fucosyltransferases"""	4014	protein-coding gene	gene with protein product		111100	"""fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group included)"""	LE		1977660, 1740457	Standard	NM_000149		Approved	CD174	uc002mdk.2	P21217	OTTHUMG00000180614	ENST00000303225.6:c.943C>A	19.37:g.5843908G>T	ENSP00000305603:p.Arg315Ser		B5U7U9|B5U7V0|Q32NE7|Q99448|Q99449	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.R315S	ENST00000303225.6	37	c.943	CCDS12153.1	19	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373025	0.24857	.	.	ENSG00000171124	ENST00000303225;ENST00000458379	T;T	0.26067	1.76;1.76	2.29	-4.57	0.03421	.	1.468990	0.04335	N	0.352987	T	0.20536	0.0494	L	0.43152	1.355	0.09310	N	1	B;B;B;B	0.24533	0.105;0.098;0.098;0.098	B;B;B;B	0.35353	0.201;0.142;0.142;0.142	T	0.32719	-0.9896	10	0.09338	T	0.73	.	5.332	0.15938	0.0:0.1682:0.3308:0.501	.	315;315;315;315	B3W6H0;A8K737;B3GVC1;P21217	.;.;.;FUT3_HUMAN	S	315	ENSP00000305603:R315S;ENSP00000416443:R315S	ENSP00000305603:R315S	R	-	1	0	FUT3	5794908	0.000000	0.05858	0.001000	0.08648	0.554000	0.35429	-1.245000	0.02899	-1.018000	0.03363	0.194000	0.17425	CGC	FUT3	-	pfam_Glyco_trans_10	ENSG00000171124		0.637	FUT3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FUT3	HGNC	protein_coding	OTTHUMT00000452204.1	104	0.00	0	G	NM_000149		5843908	5843908	-1	no_errors	ENST00000303225	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.000	T
FKBP8	23770	genome.wustl.edu	37	19	18652645	18652645	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr19:18652645C>G	ENST00000596558.2	-	2	245	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	FKBP8_ENST00000453489.2_Missense_Mutation_p.E75Q|FKBP8_ENST00000597960.3_Missense_Mutation_p.E46Q|FKBP8_ENST00000222308.4_Missense_Mutation_p.E46Q|FKBP8_ENST00000608443.1_Missense_Mutation_p.E46Q|FKBP8_ENST00000610101.1_Missense_Mutation_p.E46Q			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	46	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						AGGTCAtcctcttcctcctct	0.662																																						dbGAP											0													40.0	33.0	35.0					19																	18652645		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.136G>C	19.37:g.18652645C>G	ENSP00000472302:p.Glu46Gln		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E75Q	ENST00000596558.2	37	c.223		19	.	.	.	.	.	.	.	.	.	.	C	9.593	1.126771	0.20959	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.38240	1.15;1.35;1.4	2.04	0.948	0.19561	.	0.246545	0.39407	N	0.001376	T	0.17365	0.0417	N	0.14661	0.345	0.18873	N	0.999987	B;B;B	0.27594	0.182;0.056;0.092	B;B;B	0.14023	0.007;0.005;0.01	T	0.13045	-1.0524	10	0.52906	T	0.07	-9.3244	7.1273	0.25479	0.0:0.8485:0.0:0.1515	.	75;46;46	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	Q	46;46;75	ENSP00000222308:E46Q;ENSP00000441267:E46Q;ENSP00000388891:E75Q	ENSP00000222308:E46Q	E	-	1	0	FKBP8	18513645	0.009000	0.17119	0.133000	0.22050	0.735000	0.41995	1.888000	0.39708	0.188000	0.20168	0.313000	0.20887	GAG	FKBP8	-	NULL	ENSG00000105701		0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	33	0.00	0	C	NM_012181		18652645	18652645	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.916	G
GATA3	2625	genome.wustl.edu	37	10	8111514	8111515	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr10:8111514_8111515delGG	ENST00000346208.3	+	5	1455_1456	c.1000_1001delGG	c.(1000-1002)gggfs	p.G334fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.G335fs			P23771	GATA3_HUMAN	GATA binding protein 3	334					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GAATGCCAATGGGGACCCTGTC	0.564			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1000_1001delGG	10.37:g.8111516_8111517delGG	ENSP00000341619:p.Gly334fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.D336fs	ENST00000346208.3	37	c.1003_1004	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.564	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	61	0.00	0	GG	NM_001002295		8111514	8111515	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	29	42.00	21	DEL	1.000:1.000	-
HECTD1	25831	genome.wustl.edu	37	14	31597881	31597881	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr14:31597881G>C	ENST00000399332.1	-	25	5184	c.4696C>G	c.(4696-4698)Cta>Gta	p.L1566V	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1566V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1566	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTTCGGCTTAGATTCATGTTG	0.433																																						dbGAP											0													164.0	153.0	156.0					14																	31597881		2049	4203	6252	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4696C>G	14.37:g.31597881G>C	ENSP00000382269:p.Leu1566Val		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.L1566V	ENST00000399332.1	37	c.4696	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685016	0.29872	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.40476	1.03;1.03;3.01	6.16	5.1	0.69264	.	0.000000	0.56097	U	0.000037	T	0.43700	0.1259	N	0.19112	0.55	0.51233	D	0.999911	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.09164	-1.0687	10	0.25751	T	0.34	-6.0482	10.9559	0.47358	0.1334:0.0:0.8666:0.0	.	1566;1566	D3DS86;Q9ULT8	.;HECD1_HUMAN	V	1566;1568;1566;993	ENSP00000450697:L1566V;ENSP00000382269:L1566V;ENSP00000451860:L993V	ENSP00000261312:L1568V	L	-	1	2	HECTD1	30667632	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.338000	0.52128	2.937000	0.99478	0.650000	0.86243	CTA	HECTD1	-	NULL	ENSG00000092148		0.433	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	122	0.00	0	G			31597881	31597881	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	88	42.11	64	SNP	1.000	C
HOXB3	3213	genome.wustl.edu	37	17	46628038	46628038	+	Silent	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr17:46628038C>T	ENST00000470495.1	-	2	2401	c.954G>A	c.(952-954)ccG>ccA	p.P318P	HOXB3_ENST00000498678.1_Silent_p.P318P|HOXB3_ENST00000489475.1_Silent_p.P245P|HOXB3_ENST00000311626.4_Silent_p.P318P|HOXB3_ENST00000490677.1_Silent_p.P184P|HOXB3_ENST00000476342.1_Silent_p.P318P|HOXB3_ENST00000485909.2_Silent_p.P186P|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000460160.1_Silent_p.P186P|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000472863.1_Silent_p.P245P|HOXB-AS1_ENST00000502764.2_RNA			P14651	HXB3_HUMAN	homeobox B3	318					angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|cartilage development (GO:0051216)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|face development (GO:0060324)|glossopharyngeal nerve morphogenesis (GO:0021615)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of neurogenesis (GO:0050767)|rhombomere development (GO:0021546)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGTACTTCTGCGGGGCGCCGC	0.692											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													34.0	43.0	40.0					17																	46628038		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11528.1	17q21.32	2011-06-20	2005-12-22		ENSG00000120093	ENSG00000120093		"""Homeoboxes / ANTP class : HOXL subclass"""	5114	protein-coding gene	gene with protein product		142966	"""homeo box B3"""	HOX2, HOX2G		1973146, 1358459	Standard	XM_006721854		Approved		uc002ino.3	P14651	OTTHUMG00000159922	ENST00000470495.1:c.954G>A	17.37:g.46628038C>T		940	A8K567|B7Z5N8|B7Z5P8|B7ZAD0|D3DTV3|O95615|P17484	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.P318	ENST00000470495.1	37	c.954	CCDS11528.1	17																																																																																			HOXB3	-	NULL	ENSG00000120093		0.692	HOXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB3	HGNC	protein_coding	OTTHUMT00000358261.1	43	0.00	0	C			46628038	46628038	-1	no_errors	ENST00000311626	ensembl	human	known	69_37n	silent	35	12.50	5	SNP	0.990	T
HSPG2	3339	genome.wustl.edu	37	1	22199445	22199448	+	Intron	DEL	CAGC	CAGC	-	rs541670434|rs377651867		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	CAGC	CAGC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:22199445_22199448delCAGC	ENST00000374695.3	-	31	3968					NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGGGTCTGGGCAGCGGGGCAGAGC	0.691																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.3888+41GCTG>-	1.37:g.22199445_22199448delCAGC			Q16287|Q5SZI3|Q9H3V5	Frame_Shift_Del	DEL	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	p.A165fs	ENST00000374695.3	37	c.496_493	CCDS30625.1	1																																																																																			HSPG2	-	NULL	ENSG00000142798		0.691	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	63	0.00	0	CAGC	NM_005529		22199445	22199448	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427897	ensembl	human	known	69_37n	frame_shift_del	11	57.14	16	DEL	0.000:0.000:0.001:0.000	-
IL27RA	9466	genome.wustl.edu	37	19	14143218	14143218	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr19:14143218T>G	ENST00000263379.2	+	2	246	c.121T>G	c.(121-123)Tgc>Ggc	p.C41G	CTB-55O6.4_ENST00000590528.1_RNA	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	41					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GCCACTGCAGTGCTACGGAGT	0.627																																					Colon(164;1849 1896 4443 37792 47834)	dbGAP											0													82.0	88.0	86.0					19																	14143218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.121T>G	19.37:g.14143218T>G	ENSP00000263379:p.Cys41Gly		A0N0L1|O60624	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.C41G	ENST00000263379.2	37	c.121	CCDS12303.1	19	.	.	.	.	.	.	.	.	.	.	T	28.2	4.900519	0.92035	.	.	ENSG00000104998	ENST00000263379	T	0.60797	0.16	3.82	3.82	0.43975	.	0.000000	0.38663	N	0.001603	T	0.62720	0.2451	L	0.32530	0.975	0.35702	D	0.81567	D	0.71674	0.998	D	0.77557	0.99	T	0.71344	-0.4621	10	0.87932	D	0	0.4398	9.2537	0.37571	0.0:0.0:0.0:1.0	.	41	Q6UWB1	I27RA_HUMAN	G	41	ENSP00000263379:C41G	ENSP00000263379:C41G	C	+	1	0	IL27RA	14004218	1.000000	0.71417	0.668000	0.29813	0.909000	0.53808	3.545000	0.53648	1.493000	0.48517	0.402000	0.26972	TGC	IL27RA	-	NULL	ENSG00000104998		0.627	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL27RA	HGNC	protein_coding	OTTHUMT00000458539.1	104	0.00	0	T	NM_004843		14143218	14143218	+1	no_errors	ENST00000263379	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.984	G
IRF7	3665	genome.wustl.edu	37	11	612739	612739	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr11:612739delA	ENST00000397574.2	-	11	1787	c.1418delT	c.(1417-1419)ctgfs	p.L473fs	IRF7_ENST00000397566.1_Frame_Shift_Del_p.L486fs|IRF7_ENST00000525445.1_Frame_Shift_Del_p.L367fs|IRF7_ENST00000397562.3_Frame_Shift_Del_p.L180fs|IRF7_ENST00000330243.5_Frame_Shift_Del_p.L486fs|IRF7_ENST00000397570.1_Frame_Shift_Del_p.L444fs|IRF7_ENST00000348655.6_Frame_Shift_Del_p.L444fs	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	473					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTATCCAGGGAAGACAC	0.632																																						dbGAP											0													63.0	67.0	66.0					11																	612739		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1418delT	11.37:g.612739delA	ENSP00000380704:p.Leu473fs		B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Frame_Shift_Del	DEL	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.L486fs	ENST00000397574.2	37	c.1457	CCDS7703.1	11																																																																																			IRF7	-	superfamily_SMAD_FHA_domain	ENSG00000185507		0.632	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	23	0.00	0	A	NM_001572		612739	612739	-1	no_errors	ENST00000330243	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	1.000	-
KIAA0430	9665	genome.wustl.edu	37	16	15727535	15727538	+	Frame_Shift_Del	DEL	ATGA	ATGA	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	ATGA	ATGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:15727535_15727538delATGA	ENST00000396368.3	-	5	1375_1378	c.1169_1172delTCAT	c.(1168-1173)ttcatcfs	p.FI390fs	KIAA0430_ENST00000540441.2_Frame_Shift_Del_p.FI390fs|KIAA0430_ENST00000602337.1_Frame_Shift_Del_p.FI387fs|KIAA0430_ENST00000548025.1_Frame_Shift_Del_p.FI387fs|KIAA0430_ENST00000344181.3_Frame_Shift_Del_p.FI212fs|KIAA0430_ENST00000551742.1_Frame_Shift_Del_p.FI390fs	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	390	NYN.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACATACACAGATGAATTCTGCTTC	0.368																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.1169_1172delTCAT	16.37:g.15727535_15727538delATGA	ENSP00000379654:p.Phe390fs		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Frame_Shift_Del	DEL	pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom	p.F390fs	ENST00000396368.3	37	c.1172_1169	CCDS10562.2	16																																																																																			KIAA0430	-	pfam_NYN_limkain-b1	ENSG00000166783		0.368	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA0430	HGNC	protein_coding	OTTHUMT00000252131.2	174	0.00	0	ATGA	NM_014647		15727535	15727538	-1	no_errors	ENST00000396368	ensembl	human	known	69_37n	frame_shift_del	115	35.03	62	DEL	1.000:1.000:1.000:1.000	-
LZTR1	8216	genome.wustl.edu	37	22	21350992	21350992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr22:21350992delT	ENST00000215739.8	+	19	2586	c.2227delT	c.(2227-2229)tttfs	p.F743fs	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Frame_Shift_Del_p.F724fs	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	743					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CAGCTACTTGTTTGCGGCCCC	0.612																																						dbGAP											0													56.0	48.0	51.0					22																	21350992		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.2227delT	22.37:g.21350992delT	ENSP00000215739:p.Phe743fs		Q14776|Q20WK0	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.F743fs	ENST00000215739.8	37	c.2227	CCDS33606.1	22																																																																																			LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000099949		0.612	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	66	0.00	0	T	NM_006767		21350992	21350992	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	frame_shift_del	6	25.00	2	DEL	1.000	-
MAP2K4	6416	genome.wustl.edu	37	17	12016647	12016648	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr17:12016647_12016648delAA	ENST00000353533.5	+	7	846_847	c.783_784delAA	c.(781-786)acaagafs	p.R262fs	MAP2K4_ENST00000415385.3_Frame_Shift_Del_p.R273fs|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTGCCAAGACAAGAGATGCTGG	0.465			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|large_intestine(1)|pancreas(1)																																								-	-	-	SO:0001589	frameshift_variant	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.783_784delAA	17.37:g.12016647_12016648delAA	ENSP00000262445:p.Arg262fs		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D274fs	ENST00000353533.5	37	c.816_817	CCDS11162.1	17																																																																																			MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.465	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	144	0.00	0	AA			12016647	12016648	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	frame_shift_del	24	70.18	80	DEL	0.986:1.000	-
MARCKSL1	65108	genome.wustl.edu	37	1	32800430	32800430	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:32800430G>C	ENST00000329421.7	-	2	701	c.356C>G	c.(355-357)tCc>tGc	p.S119C		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	119					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGTGGGTGAGGAGGCAGAAGA	0.572																																						dbGAP											0													48.0	46.0	47.0					1																	32800430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031640	CCDS361.1	1p35.1	2008-02-05	2004-11-17	2004-11-17	ENSG00000175130	ENSG00000175130			7142	protein-coding gene	gene with protein product		602940	"""MARCKS-like protein"""	MLP		9598313	Standard	NM_023009		Approved	F52, MacMARCKS, MLP1	uc001bvd.4	P49006	OTTHUMG00000007589	ENST00000329421.7:c.356C>G	1.37:g.32800430G>C	ENSP00000362638:p.Ser119Cys		D3DPQ0|Q5TEE6|Q6NXS5	Missense_Mutation	SNP	pfam_MARCKS,prints_MARCKS	p.S119C	ENST00000329421.7	37	c.356	CCDS361.1	1	.	.	.	.	.	.	.	.	.	.	G	17.33	3.363572	0.61513	.	.	ENSG00000175130	ENST00000329421	T	0.30714	1.52	5.17	5.17	0.71159	.	0.196819	0.45606	D	0.000345	T	0.44414	0.1292	L	0.29908	0.895	0.41912	D	0.990471	D	0.76494	0.999	D	0.70487	0.969	T	0.43327	-0.9398	10	0.87932	D	0	-10.6308	16.8337	0.85951	0.0:0.0:1.0:0.0	.	119	P49006	MRP_HUMAN	C	119	ENSP00000362638:S119C	ENSP00000362638:S119C	S	-	2	0	MARCKSL1	32573017	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.256000	0.51492	2.596000	0.87737	0.561000	0.74099	TCC	MARCKSL1	-	pfam_MARCKS	ENSG00000175130		0.572	MARCKSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKSL1	HGNC	protein_coding	OTTHUMT00000020059.3	129	0.00	0	G	NM_023009		32800430	32800430	-1	no_errors	ENST00000329421	ensembl	human	known	69_37n	missense	25	43.18	19	SNP	0.995	C
MYO6	4646	genome.wustl.edu	37	6	76576288	76576288	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr6:76576288G>C	ENST00000369977.3	+	17	1859	c.1720G>C	c.(1720-1722)Gac>Cac	p.D574H	MYO6_ENST00000369981.3_Missense_Mutation_p.D574H|RNA5SP209_ENST00000411237.1_RNA|MYO6_ENST00000369985.4_Missense_Mutation_p.D574H|snoU13_ENST00000459013.1_RNA|MYO6_ENST00000369975.1_Missense_Mutation_p.D574H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	574	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TATCAGAGACGACGAAGGCTT	0.353																																						dbGAP											0													102.0	101.0	101.0					6																	76576288		2203	4300	6503	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1720G>C	6.37:g.76576288G>C	ENSP00000358994:p.Asp574His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.D574H	ENST00000369977.3	37	c.1720	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	23.5	4.417960	0.83449	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.93288	0.7861	M	0.78916	2.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.93190	0.6582	10	0.87932	D	0	.	20.024	0.97514	0.0:0.0:1.0:0.0	.	574;574	Q9UM54-2;Q9UM54-1	.;.	H	574	ENSP00000358998:D574H;ENSP00000359002:D574H;ENSP00000358994:D574H;ENSP00000358992:D574H	ENSP00000358992:D574H	D	+	1	0	MYO6	76633008	1.000000	0.71417	0.999000	0.59377	0.550000	0.35303	9.327000	0.96396	2.809000	0.96659	0.655000	0.94253	GAC	MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196586		0.353	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	166	0.00	0	G	NM_004999		76576288	76576288	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	75	45.71	64	SNP	1.000	C
NEB	4703	genome.wustl.edu	37	2	152381061	152381061	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr2:152381061T>C	ENST00000172853.10	-	124	17386	c.17239A>G	c.(17239-17241)Aag>Gag	p.K5747E	NEB_ENST00000397345.3_Missense_Mutation_p.K7448E|NEB_ENST00000603639.1_Missense_Mutation_p.K7448E|NEB_ENST00000427231.2_Missense_Mutation_p.K7448E|NEB_ENST00000604864.1_Missense_Mutation_p.K7448E|NEB_ENST00000409198.1_Missense_Mutation_p.K5747E			P20929	NEBU_HUMAN	nebulin	5747					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTGGCCTTCTTGATGTCT	0.498																																						dbGAP											0													211.0	212.0	212.0					2																	152381061		2014	4204	6218	-	-	-	SO:0001583	missense	0			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17239A>G	2.37:g.152381061T>C	ENSP00000172853:p.Lys5747Glu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain	p.K7448E	ENST00000172853.10	37	c.22342		2	.	.	.	.	.	.	.	.	.	.	T	28.5	4.921804	0.92319	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46819	0.86;1.46;1.46;0.86;0.86	5.45	5.45	0.79879	.	0.093011	0.64402	D	0.000001	T	0.61615	0.2361	L	0.46157	1.445	0.80722	D	1	D;D;D	0.71674	0.998;0.997;0.994	D;D;D	0.91635	0.999;0.995;0.956	T	0.58440	-0.7636	10	0.32370	T	0.25	.	15.5171	0.75833	0.0:0.0:0.0:1.0	.	5747;7448;2178	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	E	5747;7448;7448;1796;2178;5747	ENSP00000386259:K5747E;ENSP00000380505:K7448E;ENSP00000416578:K7448E;ENSP00000410961:K2178E;ENSP00000172853:K5747E	ENSP00000172853:K5747E	K	-	1	0	NEB	152089307	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.968000	0.87980	2.059000	0.61396	0.533000	0.62120	AAG	NEB	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif	ENSG00000183091		0.498	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		235	0.00	0	T	NM_004543		152381061	152381061	-1	no_errors	ENST00000397345	ensembl	human	known	69_37n	missense	180	17.05	37	SNP	1.000	C
PARP4	143	genome.wustl.edu	37	13	25023909	25023909	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr13:25023909C>A	ENST00000381989.3	-	25	3166	c.3061G>T	c.(3061-3063)Gcc>Tcc	p.A1021S		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1021	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATACTCCGGCACCACACTGG	0.313																																						dbGAP											0													68.0	70.0	69.0					13																	25023909		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3061G>T	13.37:g.25023909C>A	ENSP00000371419:p.Ala1021Ser		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A1021S	ENST00000381989.3	37	c.3061	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847892	0.71603	.	.	ENSG00000102699	ENST00000381989	T	0.07688	3.17	4.64	3.78	0.43462	von Willebrand factor, type A (3);	0.056149	0.64402	D	0.000001	T	0.12603	0.0306	L	0.60455	1.87	0.33770	D	0.622983	P	0.38711	0.643	B	0.42738	0.396	T	0.14200	-1.0481	10	0.37606	T	0.19	-10.5565	11.8403	0.52350	0.1761:0.8239:0.0:0.0	.	1021	Q9UKK3	PARP4_HUMAN	S	1021	ENSP00000371419:A1021S	ENSP00000371419:A1021S	A	-	1	0	PARP4	23921909	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	3.885000	0.56182	1.167000	0.42706	0.545000	0.68477	GCC	PARP4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000102699		0.313	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	183	0.00	0	C	NM_006437		25023909	25023909	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	57	20.83	15	SNP	1.000	A
PARP4	143	genome.wustl.edu	37	13	25034250	25034250	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr13:25034250T>A	ENST00000381989.3	-	18	2263	c.2158A>T	c.(2158-2160)Aac>Tac	p.N720Y	PARP4_ENST00000480576.1_5'Flank	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	720	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GGGGGTAAGTTTCCAACACTT	0.428																																						dbGAP											0													82.0	85.0	84.0					13																	25034250		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2158A>T	13.37:g.25034250T>A	ENSP00000371419:p.Asn720Tyr		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.N720Y	ENST00000381989.3	37	c.2158	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994550	0.74703	.	.	ENSG00000102699	ENST00000381989	T	0.25749	1.78	4.27	4.27	0.50696	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.000000	0.85682	D	0.000000	T	0.65657	0.2712	H	0.98370	4.215	0.53688	D	0.999973	D	0.89917	1.0	D	0.91635	0.999	T	0.78152	-0.2315	10	0.87932	D	0	-26.3397	11.7028	0.51581	0.0:0.0:0.0:1.0	.	720	Q9UKK3	PARP4_HUMAN	Y	720	ENSP00000371419:N720Y	ENSP00000371419:N720Y	N	-	1	0	PARP4	23932250	1.000000	0.71417	0.997000	0.53966	0.976000	0.68499	6.931000	0.75863	1.934000	0.56057	0.445000	0.29226	AAC	PARP4	-	pfam_VIT,smart_VIT	ENSG00000102699		0.428	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	136	0.00	0	T	NM_006437		25034250	25034250	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	63	27.59	24	SNP	1.000	A
PDE1A	5136	genome.wustl.edu	37	2	183051216	183051216	+	Missense_Mutation	SNP	G	G	A	rs553030991		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr2:183051216G>A	ENST00000410103.1	-	13	1438	c.1355C>T	c.(1354-1356)aCt>aTt	p.T452I	PDE1A_ENST00000351439.5_Missense_Mutation_p.T436I|PDE1A_ENST00000435564.1_Missense_Mutation_p.T452I|PDE1A_ENST00000409365.1_Missense_Mutation_p.T436I|PDE1A_ENST00000358139.2_Missense_Mutation_p.T452I|PDE1A_ENST00000456212.1_Missense_Mutation_p.T452I|PDE1A_ENST00000331935.6_Missense_Mutation_p.T452I|PDE1A_ENST00000536095.1_Missense_Mutation_p.T348I|PDE1A_ENST00000346717.4_Missense_Mutation_p.T418I	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	452	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	ATAGGAAGAAGTTTCGGCTTT	0.343																																						dbGAP											0													79.0	80.0	80.0					2																	183051216		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1355C>T	2.37:g.183051216G>A	ENSP00000387037:p.Thr452Ile		D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.T452I	ENST00000410103.1	37	c.1355	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118109	0.20877	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	T;T;T;T;T;T;T;T;T	0.70749	-0.5;-0.5;-0.5;-0.5;-0.5;-0.51;-0.51;-0.51;-0.5	5.29	-4.53	0.03462	.	2.346620	0.01091	N	0.005172	T	0.52240	0.1722	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B	0.27140	0.001;0.169;0.004;0.074;0.002	B;B;B;B;B	0.29077	0.017;0.098;0.017;0.062;0.038	T	0.41610	-0.9499	10	0.23891	T	0.37	.	10.334	0.43839	0.0:0.3202:0.1339:0.5458	.	348;418;452;436;452	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	I	452;418;348;436;452;436;452;452;452	ENSP00000410309:T452I;ENSP00000329112:T418I;ENSP00000439938:T348I;ENSP00000386767:T436I;ENSP00000331574:T452I;ENSP00000309269:T436I;ENSP00000387037:T452I;ENSP00000350858:T452I;ENSP00000408874:T452I	ENSP00000331574:T452I	T	-	2	0	PDE1A	182759461	0.006000	0.16342	0.003000	0.11579	0.293000	0.27360	-0.195000	0.09546	-0.656000	0.05380	-0.176000	0.13171	ACT	PDE1A	-	NULL	ENSG00000115252		0.343	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	134	0.00	0	G			183051216	183051216	-1	no_errors	ENST00000456212	ensembl	human	known	69_37n	missense	120	16.08	23	SNP	0.006	A
PIAS2	9063	genome.wustl.edu	37	18	44392457	44392457	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr18:44392457C>G	ENST00000585916.1	-	14	1804	c.1805G>C	c.(1804-1806)aGt>aCt	p.S602T		NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	602	Poly-Ser.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCCTGTCTCACTCCTGCTGCT	0.473																																						dbGAP											0													211.0	161.0	178.0					18																	44392457		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1805G>C	18.37:g.44392457C>G	ENSP00000465676:p.Ser602Thr		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd	p.S602T	ENST00000585916.1	37	c.1805	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	C	5.425	0.263522	0.10294	.	.	ENSG00000078043	ENST00000398654;ENST00000262161	.	.	.	6.06	5.19	0.71726	.	0.228496	0.53938	D	0.000053	T	0.29684	0.0741	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.16722	0.016	T	0.12116	-1.0560	9	0.13108	T	0.6	-3.9863	10.7674	0.46301	0.0:0.8003:0.1302:0.0694	.	602	O75928	PIAS2_HUMAN	T	602	.	ENSP00000262161:S602T	S	-	2	0	PIAS2	42646455	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	1.751000	0.38339	1.581000	0.49865	-0.140000	0.14226	AGT	PIAS2	-	NULL	ENSG00000078043		0.473	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	HGNC	protein_coding	OTTHUMT00000445656.2	68	0.00	0	C	NM_004671		44392457	44392457	-1	no_errors	ENST00000585916	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	1.000	G
PLCH1	23007	genome.wustl.edu	37	3	155203418	155203418	+	Silent	SNP	G	G	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr3:155203418G>T	ENST00000340059.7	-	22	2724	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	PLCH1_ENST00000414191.1_Silent_p.R871R|PLCH1_ENST00000447496.2_Silent_p.R909R|PLCH1_ENST00000460012.1_Silent_p.R871R|PLCH1_ENST00000334686.6_Silent_p.R871R|PLCH1_ENST00000494598.1_Silent_p.R889R|PLCH1-AS2_ENST00000472913.1_RNA	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	909					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GATCGCTTCCGTACATAATGG	0.463																																						dbGAP											0													96.0	93.0	94.0					3																	155203418		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2725C>A	3.37:g.155203418G>T			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.R909	ENST00000340059.7	37	c.2725	CCDS46939.1	3																																																																																			PLCH1	-	NULL	ENSG00000114805		0.463	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	73	0.00	0	G	NM_014996		155203418	155203418	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	silent	44	64.23	79	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	124	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	212	32.70	103	SNP	1.000	G
POU6F2	11281	genome.wustl.edu	37	7	39247072	39247072	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr7:39247072C>G	ENST00000403058.1	+	5	518	c.364C>G	c.(364-366)Ctc>Gtc	p.L122V	POU6F2_ENST00000518318.2_Missense_Mutation_p.L122V|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.L114V	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	122					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCAGCCAATCCTCATTCCCTT	0.592																																						dbGAP											0													103.0	105.0	104.0					7																	39247072		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.364C>G	7.37:g.39247072C>G	ENSP00000384004:p.Leu122Val		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.L122V	ENST00000403058.1	37	c.364	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	C	31	5.071336	0.93950	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.88509	-2.39;-2.34	6.17	6.17	0.99709	.	1.158490	0.06293	N	0.699539	D	0.94722	0.8297	L	0.53249	1.67	0.49389	D	0.99978	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.978	D	0.88392	0.3009	10	0.59425	D	0.04	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	122;122	P78424-2;P78424	.;PO6F2_HUMAN	V	122;122;123	ENSP00000384004:L122V;ENSP00000430514:L122V	ENSP00000384004:L122V	L	+	1	0	POU6F2	39213597	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CTC	POU6F2	-	NULL	ENSG00000106536		0.592	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	114	0.00	0	C	NM_007252		39247072	39247072	+1	no_errors	ENST00000403058	ensembl	human	known	69_37n	missense	63	17.11	13	SNP	1.000	G
PPT2	9374	genome.wustl.edu	37	6	32130348	32130348	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr6:32130348C>G	ENST00000324816.6	+	8	1282	c.714C>G	c.(712-714)ttC>ttG	p.F238L	PPT2_ENST00000395523.1_Missense_Mutation_p.F238L|EGFL8_ENST00000395512.1_5'Flank|PPT2_ENST00000437001.2_Missense_Mutation_p.F115L|PPT2_ENST00000375137.2_Missense_Mutation_p.F238L|PPT2_ENST00000361568.2_Missense_Mutation_p.F244L|PPT2_ENST00000445576.2_Missense_Mutation_p.F238L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.F238L|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.F238L|PPT2_ENST00000493548.1_3'UTR|EGFL8_ENST00000333845.6_5'Flank			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	238					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)	p.F244L(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTTGTAGCTTCTTTGGTTTCT	0.532																																						dbGAP											1	Substitution - Missense(1)	urinary_tract(1)											159.0	177.0	171.0					6																	32130348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.714C>G	6.37:g.32130348C>G	ENSP00000320528:p.Phe238Leu		A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.F244L	ENST00000324816.6	37	c.732	CCDS4742.1	6	.	.	.	.	.	.	.	.	.	.	C	5.190	0.220535	0.09863	.	.	ENSG00000221988	ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143	D;D;D;D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91;-3.91;-3.91;-3.91	4.86	3.05	0.35203	.	0.182284	0.48767	D	0.000178	T	0.76234	0.3959	N	0.01874	-0.695	0.80722	D	1	B;B;B	0.15141	0.012;0.009;0.009	B;B;B	0.10450	0.004;0.005;0.005	T	0.74028	-0.3796	10	0.45353	T	0.12	-6.6967	7.0761	0.25205	0.0:0.798:0.0:0.202	.	238;238;244	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	L	244;238;238;238;115;238;238	ENSP00000354608:F244L;ENSP00000378894:F238L;ENSP00000412381:F238L;ENSP00000320528:F238L;ENSP00000415350:F115L;ENSP00000364279:F238L;ENSP00000364285:F238L	ENSP00000320528:F238L	F	+	3	2	PPT2	32238326	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.002000	0.13061	1.383000	0.46405	0.655000	0.94253	TTC	PPT2	-	pfam_Palm_thioest,prints_Palm_thioest	ENSG00000221988		0.532	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT2	HGNC	protein_coding	OTTHUMT00000076552.4	581	0.00	0	C	NM_138717		32130348	32130348	+1	no_errors	ENST00000361568	ensembl	human	known	69_37n	missense	105	20.90	28	SNP	1.000	G
PTPRD	5789	genome.wustl.edu	37	9	8341823	8341823	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr9:8341823T>G	ENST00000381196.4	-	37	5360	c.4817A>C	c.(4816-4818)cAt>cCt	p.H1606P	PTPRD_ENST00000397606.3_Missense_Mutation_p.H1199P|PTPRD_ENST00000355233.5_Missense_Mutation_p.H1200P|PTPRD_ENST00000358503.5_Missense_Mutation_p.H1584P|PTPRD_ENST00000540109.1_Missense_Mutation_p.H1606P|PTPRD_ENST00000397611.3_Missense_Mutation_p.H1196P|PTPRD_ENST00000356435.5_Missense_Mutation_p.H1606P|PTPRD_ENST00000360074.4_Missense_Mutation_p.H1593P|PTPRD_ENST00000537002.1_Missense_Mutation_p.H1196P|PTPRD_ENST00000397617.3_Missense_Mutation_p.H1199P|PTPRD_ENST00000486161.1_Missense_Mutation_p.H1199P	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1606	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAGTGCATCATGGATAAAGAT	0.388										TSP Lung(15;0.13)																												dbGAP											0													267.0	248.0	255.0					9																	8341823		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4817A>C	9.37:g.8341823T>G	ENSP00000370593:p.His1606Pro		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.H1606P	ENST00000381196.4	37	c.4817	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975334	0.74360	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.72771	0.3502	H	0.98559	4.265	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.987;0.987;0.987;0.987;1.0;0.984;1.0;1.0;1.0	P;P;P;P;D;P;D;D;D	0.97110	0.82;0.82;0.82;0.82;0.999;0.725;0.999;1.0;0.999	D	0.84243	0.0473	9	.	.	.	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1199;1190;1199;1200;1196;1196;1593;1606;1606	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	P	1606;1606;1593;1584;1200;1199;1196;1196;1077;1606;1199;1199	ENSP00000370593:H1606P;ENSP00000348812:H1606P;ENSP00000353187:H1593P;ENSP00000351293:H1584P;ENSP00000347373:H1200P;ENSP00000380741:H1199P;ENSP00000380735:H1196P;ENSP00000440515:H1196P;ENSP00000438164:H1606P;ENSP00000417093:H1199P;ENSP00000380731:H1199P	.	H	-	2	0	PTPRD	8331823	1.000000	0.71417	0.973000	0.42090	0.997000	0.91878	7.997000	0.88414	2.326000	0.78906	0.533000	0.62120	CAT	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000153707		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	331	0.00	0	T			8341823	8341823	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	253	51.34	268	SNP	1.000	G
PZP	5858	genome.wustl.edu	37	12	9307416	9307416	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr12:9307416C>G	ENST00000261336.2	-	29	3598	c.3570G>C	c.(3568-3570)gaG>gaC	p.E1190D	PZP_ENST00000381997.2_Missense_Mutation_p.E976D	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1190					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTGAGGGCGCTCCCAATGGA	0.458																																					Melanoma(125;1402 1695 4685 34487 38571)	dbGAP											0													56.0	57.0	57.0					12																	9307416		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3570G>C	12.37:g.9307416C>G	ENSP00000261336:p.Glu1190Asp		A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.E1190D	ENST00000261336.2	37	c.3570	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459507	0.26248	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.35048	1.33;1.33	4.03	-1.22	0.09494	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.341025	0.23091	U	0.052033	T	0.47210	0.1433	M	0.82323	2.585	0.09310	N	1	P;P	0.50156	0.932;0.866	P;P	0.51297	0.655;0.665	T	0.47169	-0.9138	10	0.59425	D	0.04	.	9.7087	0.40231	0.0:0.5223:0.0:0.4777	.	976;1190	P20742-2;P20742	.;PZP_HUMAN	D	1190;976	ENSP00000261336:E1190D;ENSP00000371427:E976D	ENSP00000261336:E1190D	E	-	3	2	PZP	9198683	0.000000	0.05858	0.018000	0.16275	0.010000	0.07245	-0.578000	0.05841	-0.395000	0.07715	-0.251000	0.11542	GAG	PZP	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000126838		0.458	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	49	0.00	0	C	NM_002864		9307416	9307416	-1	no_errors	ENST00000261336	ensembl	human	known	69_37n	missense	35	42.86	27	SNP	0.011	G
RAG1	5896	genome.wustl.edu	37	11	36595870	36595870	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr11:36595870A>T	ENST00000299440.5	+	2	1128	c.1016A>T	c.(1015-1017)gAc>gTc	p.D339V		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	339					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTCCCTACTGACCTGGAGAGT	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	dbGAP											0													70.0	66.0	67.0					11																	36595870		2202	4298	6500	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1016A>T	11.37:g.36595870A>T	ENSP00000299440:p.Asp339Val		E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING	p.D339V	ENST00000299440.5	37	c.1016	CCDS7902.1	11	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290246	0.80914	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.78816	-1.21;-1.21	5.39	5.39	0.77823	Zinc finger, RING/FYVE/PHD-type (1);	0.174407	0.47852	D	0.000215	D	0.91971	0.7457	H	0.97103	3.94	0.80722	D	1	D	0.71674	0.998	D	0.77004	0.989	D	0.94592	0.7788	10	0.87932	D	0	.	15.4509	0.75271	1.0:0.0:0.0:0.0	.	339	P15918	RAG1_HUMAN	V	339	ENSP00000434610:D339V;ENSP00000299440:D339V	ENSP00000299440:D339V	D	+	2	0	RAG1	36552446	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.962000	0.93254	2.052000	0.61016	0.529000	0.55759	GAC	RAG1	-	NULL	ENSG00000166349		0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RAG1	HGNC	protein_coding	OTTHUMT00000389535.1	143	0.00	0	A	NM_000448		36595870	36595870	+1	no_errors	ENST00000299440	ensembl	human	known	69_37n	missense	120	21.94	34	SNP	1.000	T
RNF113A	7737	genome.wustl.edu	37	X	119005193	119005193	+	Silent	SNP	G	G	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chrX:119005193G>A	ENST00000371442.2	-	1	598	c.384C>T	c.(382-384)cgC>cgT	p.R128R	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	128							zinc ion binding (GO:0008270)	p.R128R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CTTGTGCATCGCGCTCTTTCT	0.527																																						dbGAP											1	Substitution - coding silent(1)	endometrium(1)											268.0	254.0	259.0					X																	119005193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.384C>T	X.37:g.119005193G>A			B2RBR7	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.R128	ENST00000371442.2	37	c.384	CCDS14589.1	X																																																																																			RNF113A	-	NULL	ENSG00000125352		0.527	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF113A	HGNC	protein_coding	OTTHUMT00000058071.1	347	0.00	0	G	NM_006978		119005193	119005193	-1	no_errors	ENST00000371442	ensembl	human	known	69_37n	silent	379	24.61	125	SNP	0.598	A
SH3PXD2A	9644	genome.wustl.edu	37	10	105484097	105484098	+	Frame_Shift_Ins	INS	-	-	G	rs149867987		TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr10:105484097_105484098insG	ENST00000369774.4	-	5	604_605	c.328_329insC	c.(328-330)cacfs	p.H110fs	SH3PXD2A_ENST00000355946.2_Frame_Shift_Ins_p.H110fs			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	110	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				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)		CTGTGAGATGTGGGGGGGCAGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.329dupC	10.37:g.105484104_105484104dupG	ENSP00000358789:p.His110fs		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Frame_Shift_Ins	INS	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.H110fs	ENST00000369774.4	37	c.329_328		10																																																																																			SH3PXD2A	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000107957		0.535	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1	25	0.00	0	-	NM_014631		105484097	105484098	-1	no_errors	ENST00000369774	ensembl	human	known	69_37n	frame_shift_ins	11	21.43	3	INS	1.000:0.989	G
SLC35E2	9906	genome.wustl.edu	37	1	1670845	1670847	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	TCA	TCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:1670845_1670847delTCA	ENST00000246421.4	-	2	565_567	c.150_152delTGA	c.(148-153)gatgag>gag	p.D50del	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000355439.2_In_Frame_Del_p.D50del|SLC35E2_ENST00000400924.1_In_Frame_Del_p.D50del	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	50						integral component of membrane (GO:0016021)				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAGTACGTTCTCATCTGTGCCGC	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.150_152delTGA	1.37:g.1670845_1670847delTCA	ENSP00000246421:p.Asp50del		B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	In_Frame_Del	DEL	pfam_DMT	p.D50in_frame_del	ENST00000246421.4	37	c.152_150	CCDS33.1	1																																																																																			SLC35E2	-	NULL	ENSG00000215790		0.581	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	SLC35E2	HGNC	protein_coding	OTTHUMT00000002210.3	8	0.00	0	TCA	XM_049733		1670845	1670847	-1	no_errors	ENST00000246421	ensembl	human	known	69_37n	in_frame_del	4	33.33	2	DEL	1.000:1.000:0.988	-
SOS2	6655	genome.wustl.edu	37	14	50605490	50605490	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr14:50605490G>T	ENST00000216373.5	-	18	3072	c.2798C>A	c.(2797-2799)aCa>aAa	p.T933K	SOS2_ENST00000543680.1_Missense_Mutation_p.T900K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	933	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGAATATTTGTTAAATATAT	0.229																																						dbGAP											0													14.0	14.0	14.0					14																	50605490		2155	4253	6408	-	-	-	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2798C>A	14.37:g.50605490G>T	ENSP00000216373:p.Thr933Lys		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.T933K	ENST00000216373.5	37	c.2798	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.036755	0.75617	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.26957	1.7;1.7	5.6	5.6	0.85130	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.44829	0.1312	M	0.69463	2.115	0.80722	D	1	D;P	0.59767	0.986;0.927	P;B	0.53518	0.728;0.335	T	0.41538	-0.9503	10	0.87932	D	0	.	19.6046	0.95575	0.0:0.0:1.0:0.0	.	900;933	B7ZKT6;Q07890	.;SOS2_HUMAN	K	933;900	ENSP00000216373:T933K;ENSP00000445328:T900K	ENSP00000216373:T933K	T	-	2	0	SOS2	49675240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.379000	0.97198	2.640000	0.89533	0.655000	0.94253	ACA	SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000100485		0.229	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	64	0.00	0	G			50605490	50605490	-1	no_errors	ENST00000216373	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	1.000	T
SPINK13	153218	genome.wustl.edu	37	5	147661790	147661790	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr5:147661790C>G	ENST00000512953.1	+	5	763	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	SPINK13_ENST00000398450.4_Missense_Mutation_p.Q78E|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Missense_Mutation_p.Q38E			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	78	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of acrosome reaction (GO:1902225)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|lung(3)	5						ttgtgttgaacagaggtaagt	0.393																																						dbGAP											0													114.0	101.0	105.0					5																	147661790		1878	4108	5986	-	-	-	SO:0001583	missense	0				CCDS43383.1	5q32	2011-08-31			ENSG00000214510	ENSG00000214510		"""Serine peptidase inhibitors, Kazal type"""	27200	protein-coding gene	gene with protein product		615205					Standard	NM_001040129		Approved	SPINK5L3, LiESP6, HESPINTOR, MGC149260, HBVDNAPTP1	uc003lpc.3	Q1W4C9	OTTHUMG00000163426	ENST00000512953.1:c.232C>G	5.37:g.147661790C>G	ENSP00000421048:p.Gln78Glu		A1A4Y2	Missense_Mutation	SNP	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal	p.Q78E	ENST00000512953.1	37	c.232	CCDS43383.1	5	.	.	.	.	.	.	.	.	.	.	C	1.799	-0.477524	0.04414	.	.	ENSG00000214510	ENST00000512953;ENST00000511106;ENST00000398450	T;T;T	0.73469	-0.75;-0.75;-0.75	3.97	2.17	0.27698	Proteinase inhibitor I1, Kazal (2);	.	.	.	.	T	0.70894	0.3276	.	.	.	0.09310	N	1	P	0.51449	0.945	P	0.49561	0.615	T	0.59820	-0.7382	8	0.51188	T	0.08	-0.0391	5.0753	0.14628	0.2042:0.689:0.0:0.1068	.	78	Q1W4C9	ISK13_HUMAN	E	78;38;78	ENSP00000421048:Q78E;ENSP00000426279:Q38E;ENSP00000381468:Q78E	ENSP00000381468:Q78E	Q	+	1	0	SPINK13	147641983	0.426000	0.25506	0.037000	0.18230	0.002000	0.02628	0.401000	0.20948	0.639000	0.30564	-0.943000	0.02675	CAG	SPINK13	-	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal	ENSG00000214510		0.393	SPINK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK13	HGNC	protein_coding	OTTHUMT00000373337.1	227	0.00	0	C	NM_001040129.2		147661790	147661790	+1	no_errors	ENST00000398450	ensembl	human	known	69_37n	missense	181	15.42	33	SNP	0.046	G
SYNM	23336	genome.wustl.edu	37	15	99671359	99671359	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr15:99671359G>T	ENST00000560674.1	+	4	2405	c.1936G>T	c.(1936-1938)Gaa>Taa	p.E646*	SYNM_ENST00000328642.7_Nonsense_Mutation_p.E931*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000336292.6_Nonsense_Mutation_p.E931*|RP11-6O2.4_ENST00000566974.1_RNA			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	932	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.E931*(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AATACCCCACGAATTCCACAC	0.547																																					Pancreas(125;1071 1762 21750 40003 40381)	dbGAP											2	Substitution - Nonsense(2)	large_intestine(2)											22.0	23.0	23.0					15																	99671359		1881	4104	5985	-	-	-	SO:0001587	stop_gained	0			AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.1936G>T	15.37:g.99671359G>T	ENSP00000453040:p.Glu646*		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Nonsense_Mutation	SNP	pfam_F	p.E931*	ENST00000560674.1	37	c.2791		15	.	.	.	.	.	.	.	.	.	.	G	41	8.777843	0.98950	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	.	.	.	5.76	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9081	0.79447	0.0:0.1354:0.8646:0.0	.	.	.	.	X	931	.	ENSP00000330469:E931X	E	+	1	0	SYNM	97488882	0.984000	0.35163	0.009000	0.14445	0.703000	0.40648	3.474000	0.53129	1.402000	0.46780	0.655000	0.94253	GAA	SYNM	-	NULL	ENSG00000182253		0.547	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	SYNM	HGNC	protein_coding	OTTHUMT00000415698.2	27	0.00	0	G	NM_145728		99671359	99671359	+1	no_errors	ENST00000336292	ensembl	human	known	69_37n	nonsense	22	18.52	5	SNP	0.617	T
TCF20	6942	genome.wustl.edu	37	22	42564715	42564716	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr22:42564715_42564716insG	ENST00000359486.3	-	4	5962_5963	c.5826_5827insC	c.(5824-5829)cccttgfs	p.PL1942fs	TCF20_ENST00000404876.1_Intron|TCF20_ENST00000335626.4_Intron	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1942					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTGTTCTGCAAGGGGGGGAGAG	0.619											OREG0026603	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0									,	8,4256		0,8,2124					,	3.7	1.0			35	12,8242		0,12,4115	no	intron,frameshift	TCF20	NM_181492.1,NM_005650.1	,	0,20,6239	A1A1,A1R,RR		0.1454,0.1876,0.1598	,	,		20,12498				-	-	-	SO:0001589	frameshift_variant	0			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.5827dupC	22.37:g.42564722_42564722dupG	ENSP00000352463:p.Pro1942fs	909	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Frame_Shift_Ins	INS	smart_Znf_PHD	p.Q1943fs	ENST00000359486.3	37	c.5827_5826	CCDS14033.1	22																																																																																			TCF20	-	NULL	ENSG00000100207		0.619	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	18	0.00	0	-	NM_181492		42564715	42564716	-1	no_errors	ENST00000359486	ensembl	human	known	69_37n	frame_shift_ins	9	30.77	4	INS	1.000:1.000	G
TNRC6A	27327	genome.wustl.edu	37	16	24831678	24831678	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:24831678C>T	ENST00000395799.3	+	22	5428	c.5299C>T	c.(5299-5301)Cca>Tca	p.P1767S	TNRC6A_ENST00000432286.2_Missense_Mutation_p.P245S|TNRC6A_ENST00000315183.7_Missense_Mutation_p.P1718S|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1767	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGATATACCCCAGGTAAGAT	0.478																																						dbGAP											0													69.0	70.0	70.0					16																	24831678		2197	4300	6497	-	-	-	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5299C>T	16.37:g.24831678C>T	ENSP00000379144:p.Pro1767Ser		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.P1767S	ENST00000395799.3	37	c.5299	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.29|10.29	1.308139|1.308139	0.23821|0.23821	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.25382|0.25382	0.0617|0.0617	N|N	0.04705|0.04705	-0.18|-0.18	0.58432|0.58432	D|D	0.999996|0.999996	.|P;P	.|0.46142	.|0.873;0.787	.|B;B	.|0.43225	.|0.412;0.158	T|T	0.11324|0.11324	-1.0592|-1.0592	6|10	.|0.05351	.|T	.|0.99	-5.4953|-5.4953	19.7888|19.7888	0.96450|0.96450	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1718;1767	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	L|S	657|1718;1767;245	.|ENSP00000326900:P1718S;ENSP00000379144:P1767S;ENSP00000403015:P245S	.|ENSP00000326900:P1718S	P|P	+|+	2|1	0|0	TNRC6A|TNRC6A	24739179|24739179	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	5.820000|5.820000	0.69250|0.69250	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CCC|CCA	TNRC6A	-	NULL	ENSG00000090905		0.478	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	144	0.00	0	C	NM_020847		24831678	24831678	+1	no_errors	ENST00000395799	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	1.000	T
TRIM21	6737	genome.wustl.edu	37	11	4410964	4410964	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr11:4410964C>T	ENST00000254436.7	-	3	536	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A142T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	142					cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TCCCCTAATGCCACCTGGAGC	0.463																																						dbGAP											0													188.0	179.0	182.0					11																	4410964		1944	4137	6081	-	-	-	SO:0001583	missense	0			AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.424G>A	11.37:g.4410964C>T	ENSP00000254436:p.Ala142Thr		Q5XPV5|Q96RF8	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata	p.A142T	ENST00000254436.7	37	c.424	CCDS44525.1	11	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709559	0.48517	.	.	ENSG00000132109	ENST00000254436;ENST00000543625	T;T	0.56776	0.44;0.44	4.45	3.54	0.40534	.	0.000000	0.49305	D	0.000142	T	0.49626	0.1568	L	0.61036	1.89	0.09310	N	1	P	0.46395	0.877	B	0.43360	0.417	T	0.49835	-0.8897	10	0.62326	D	0.03	.	8.6331	0.33930	0.0:0.8971:0.0:0.1029	.	142	P19474	RO52_HUMAN	T	142	ENSP00000254436:A142T;ENSP00000444045:A142T	ENSP00000254436:A142T	A	-	1	0	TRIM21	4367540	0.073000	0.21202	0.393000	0.26258	0.828000	0.46876	1.107000	0.31110	1.468000	0.48064	0.655000	0.94253	GCA	TRIM21	-	NULL	ENSG00000132109		0.463	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM21	HGNC	protein_coding	OTTHUMT00000385842.1	235	0.00	0	C	NM_003141		4410964	4410964	-1	no_errors	ENST00000254436	ensembl	human	known	69_37n	missense	94	12.15	13	SNP	0.146	T
TSSK2	23617	genome.wustl.edu	37	22	19119973	19119973	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr22:19119973G>A	ENST00000399635.2	+	1	1653	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	354					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTGAGGTGGGGAAAGCAAGC	0.617																																						dbGAP											0													44.0	46.0	45.0					22																	19119973		2179	4268	6447	-	-	-	SO:0001583	missense	0			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.1061G>A	22.37:g.19119973G>A	ENSP00000382544:p.Gly354Glu		Q8IY55	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G354E	ENST00000399635.2	37	c.1061	CCDS13755.1	22	.	.	.	.	.	.	.	.	.	.	G	10.96	1.497466	0.26861	.	.	ENSG00000206203	ENST00000399635	T	0.70869	-0.52	5.56	3.43	0.39272	.	0.124595	0.36167	N	0.002755	T	0.45094	0.1325	N	0.08118	0	0.27072	N	0.963288	B	0.02656	0.0	B	0.04013	0.001	T	0.25847	-1.0120	10	0.31617	T	0.26	.	5.7874	0.18340	0.1589:0.0:0.687:0.1541	.	354	Q96PF2	TSSK2_HUMAN	E	354	ENSP00000382544:G354E	ENSP00000382544:G354E	G	+	2	0	TSSK2	17499973	0.995000	0.38212	1.000000	0.80357	0.832000	0.47134	0.826000	0.27407	0.683000	0.31428	0.655000	0.94253	GGG	TSSK2	-	NULL	ENSG00000206203		0.617	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1	70	0.00	0	G			19119973	19119973	+1	no_errors	ENST00000399635	ensembl	human	known	69_37n	missense	1	94.74	18	SNP	1.000	A
SH2B1	25970	genome.wustl.edu	37	16	28855150	28855150	+	5'Flank	SNP	A	A	C			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:28855150A>C	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.G367G			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGTGGCGGCCACCTTCCTCCT	0.587																																						dbGAP											0													63.0	52.0	56.0					16																	28855150		2197	4300	6497	-	-	-	SO:0001631	upstream_gene_variant	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28855150A>C	Exception_encountered		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFTu/EF1A_bac/org	p.G367	ENST00000322610.8	37	c.1101	CCDS53996.1	16																																																																																			TUFM	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EFTu/EF1A_bac/org	ENSG00000178952		0.587	SH2B1-001	KNOWN	basic|CCDS	protein_coding	TUFM	HGNC	protein_coding	OTTHUMT00000432666.1	101	0.98	1	A	NM_015503		28855150	28855150	-1	no_errors	ENST00000313511	ensembl	human	known	69_37n	silent	41	12.77	6	SNP	0.999	C
UTP20	27340	genome.wustl.edu	37	12	101748696	101748696	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr12:101748696A>G	ENST00000261637.4	+	41	5368	c.5194A>G	c.(5194-5196)Agt>Ggt	p.S1732G		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1732					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TACATGCAAGAGTTTGTCAGA	0.453																																						dbGAP											0													94.0	81.0	85.0					12																	101748696		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5194A>G	12.37:g.101748696A>G	ENSP00000261637:p.Ser1732Gly		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.S1732G	ENST00000261637.4	37	c.5194	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	A	6.875	0.530834	0.13127	.	.	ENSG00000120800	ENST00000261637	T	0.18016	2.24	5.45	1.76	0.24704	Armadillo-type fold (1);	1.109740	0.06511	N	0.738038	T	0.09642	0.0237	N	0.14661	0.345	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.40079	-0.9582	10	0.24483	T	0.36	0.0727	4.2963	0.10902	0.5775:0.1658:0.2567:0.0	.	1732	O75691	UTP20_HUMAN	G	1732	ENSP00000261637:S1732G	ENSP00000261637:S1732G	S	+	1	0	UTP20	100272827	0.057000	0.20700	0.001000	0.08648	0.024000	0.10985	0.856000	0.27818	0.058000	0.16222	0.528000	0.53228	AGT	UTP20	-	superfamily_ARM-type_fold	ENSG00000120800		0.453	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	138	0.00	0	A	NM_014503		101748696	101748696	+1	no_errors	ENST00000261637	ensembl	human	known	69_37n	missense	103	44.44	84	SNP	0.000	G
VANGL2	57216	genome.wustl.edu	37	1	160390918	160390918	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr1:160390918C>G	ENST00000368061.2	+	6	1488	c.1014C>G	c.(1012-1014)caC>caG	p.H338Q	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	338					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|cell migration involved in kidney development (GO:0035787)|cochlea morphogenesis (GO:0090103)|convergent extension involved in axis elongation (GO:0060028)|convergent extension involved in neural plate elongation (GO:0022007)|digestive tract morphogenesis (GO:0048546)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity involved in neural tube closure (GO:0090177)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|glomerulus development (GO:0032835)|hair follicle development (GO:0001942)|heart looping (GO:0001947)|inner ear receptor stereocilium organization (GO:0060122)|kidney morphogenesis (GO:0060993)|lateral sprouting involved in lung morphogenesis (GO:0060490)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in axis elongation (GO:0003402)|planar cell polarity pathway involved in heart morphogenesis (GO:0061346)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|positive regulation of JUN kinase activity (GO:0043507)|post-anal tail morphogenesis (GO:0036342)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Wnt signaling pathway (GO:0030111)|Rho protein signal transduction (GO:0007266)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell pole (GO:0060187)|cell-cell junction (GO:0005911)|ER to Golgi transport vesicle (GO:0030134)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAACAGTCACAATGAGTACT	0.587																																						dbGAP											0													87.0	74.0	78.0					1																	160390918		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033041	CCDS30915.1	1q22-q23	2013-03-05	2013-03-05		ENSG00000162738	ENSG00000162738			15511	protein-coding gene	gene with protein product	"""vang, van gogh-like 2"", ""loop-tail-associated protein"", ""strabismus"""	600533	"""vang (van gogh, Drosophila)-like 2, vang, van gogh-like 2 (Drosophila)"", ""vang-like 2 (van gogh, Drosophila)"""			11431695	Standard	NM_020335		Approved	KIAA1215, LTAP, LPP1, STBM, STB1, STBM1, MGC119403, MGC119404	uc001fwc.2	Q9ULK5	OTTHUMG00000033122	ENST00000368061.2:c.1014C>G	1.37:g.160390918C>G	ENSP00000357040:p.His338Gln		D3DVE9|Q5T212	Missense_Mutation	SNP	pfam_Strabismus,pirsf_Strabismus	p.H338Q	ENST00000368061.2	37	c.1014	CCDS30915.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121918	0.77436	.	.	ENSG00000162738	ENST00000368061	D	0.82984	-1.67	5.69	2.77	0.32553	.	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	M	0.82823	2.61	0.54753	D	0.999988	D	0.69078	0.997	D	0.79108	0.992	D	0.86946	0.2082	10	0.52906	T	0.07	-36.7718	9.8679	0.41154	0.0:0.7115:0.0:0.2885	.	338	Q9ULK5	VANG2_HUMAN	Q	338	ENSP00000357040:H338Q	ENSP00000357040:H338Q	H	+	3	2	VANGL2	158657542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.874000	0.48483	0.756000	0.33013	0.655000	0.94253	CAC	VANGL2	-	pfam_Strabismus,pirsf_Strabismus	ENSG00000162738		0.587	VANGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VANGL2	HGNC	protein_coding	OTTHUMT00000080677.1	95	0.00	0	C	NM_020335		160390918	160390918	+1	no_errors	ENST00000368061	ensembl	human	known	69_37n	missense	50	27.54	19	SNP	1.000	G
ZCCHC6	79670	genome.wustl.edu	37	9	88938364	88938364	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr9:88938364C>G	ENST00000375963.3	-	13	2473	c.2301G>C	c.(2299-2301)caG>caC	p.Q767H	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.Q644H|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.Q767H|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Missense_Mutation_p.Q56H	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	767					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CTCCACGTTTCTGATCAACAG	0.428																																						dbGAP											0													307.0	274.0	285.0					9																	88938364		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2301G>C	9.37:g.88938364C>G	ENSP00000365130:p.Gln767His		Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.Q767H	ENST00000375963.3	37	c.2301	CCDS35057.1	9	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858182	0.32791	.	.	ENSG00000083223	ENST00000277141;ENST00000375960;ENST00000375961;ENST00000375963	T;T;T;T	0.56103	0.48;0.89;0.9;0.9	4.82	-2.01	0.07410	.	2.494790	0.01056	N	0.004557	T	0.36880	0.0983	N	0.08118	0	0.09310	N	1	P;P	0.42620	0.785;0.679	B;B	0.44224	0.444;0.259	T	0.27054	-1.0085	10	0.44086	T	0.13	-13.63	7.2156	0.25957	0.0:0.3786:0.1196:0.5018	.	644;767	Q5VYS8-4;Q5VYS8	.;TUT7_HUMAN	H	56;644;767;767	ENSP00000277141:Q56H;ENSP00000365127:Q644H;ENSP00000365128:Q767H;ENSP00000365130:Q767H	ENSP00000277141:Q56H	Q	-	3	2	ZCCHC6	88128184	0.000000	0.05858	0.000000	0.03702	0.157000	0.22087	-0.822000	0.04448	-0.439000	0.07222	-0.312000	0.09012	CAG	ZCCHC6	-	NULL	ENSG00000083223		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	196	0.51	1	C	NM_024617		88938364	88938364	-1	no_errors	ENST00000375963	ensembl	human	known	69_37n	missense	157	46.42	136	SNP	0.000	G
ZDHHC8P1	150244	genome.wustl.edu	37	22	23742494	23742495	+	RNA	INS	-	-	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr22:23742494_23742495insG	ENST00000255890.4	-	0	714_715									zinc finger, DHHC-type containing 8 pseudogene 1																		GGGCAGTGCATGGGGGGGCAAA	0.663																																						dbGAP											0																																										-	-	-			0					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23742501_23742501dupG				RNA	INS	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-	ENSG00000133519		0.663	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1	10	0.00	0	-	NR_003950		23742494	23742495	-1	no_errors	ENST00000255890	ensembl	human	known	69_37n	rna	3	40.00	2	INS	0.993:0.993	G
ZFHX3	463	genome.wustl.edu	37	16	72832049	72832049	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr16:72832049C>A	ENST00000268489.5	-	9	5204	c.4532G>T	c.(4531-4533)gGg>gTg	p.G1511V	ZFHX3_ENST00000397992.5_Missense_Mutation_p.G597V	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1511					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGTACTGACCCAGAGTCACT	0.498																																						dbGAP											0													90.0	96.0	94.0					16																	72832049		2198	4300	6498	-	-	-	SO:0001583	missense	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.4532G>T	16.37:g.72832049C>A	ENSP00000268489:p.Gly1511Val		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G1511V	ENST00000268489.5	37	c.4532	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	15.46	2.838918	0.51057	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74315	-0.83;-0.81	5.78	5.78	0.91487	.	0.000000	0.51477	D	0.000100	T	0.76863	0.4047	L	0.36672	1.1	0.80722	D	1	P	0.50943	0.94	P	0.52066	0.689	T	0.75022	-0.3464	10	0.42905	T	0.14	.	20.3668	0.98882	0.0:1.0:0.0:0.0	.	1511	Q15911	ZFHX3_HUMAN	V	1511;597	ENSP00000268489:G1511V;ENSP00000438926:G597V	ENSP00000268489:G1511V	G	-	2	0	ZFHX3	71389550	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.894000	0.99253	0.655000	0.94253	GGG	ZFHX3	-	NULL	ENSG00000140836		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	449	0.22	1	C	NM_006885		72832049	72832049	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	missense	28	81.08	120	SNP	1.000	A
ZNF347	84671	genome.wustl.edu	37	19	53645287	53645287	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0RG-01A-11W-A071-09	TCGA-B6-A0RG-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	9431c642-610e-4325-97b8-8b4c5c81cacd	83830a90-9963-4aa2-8bc1-ae3a292de36a	g.chr19:53645287C>G	ENST00000334197.7	-	5	862	c.794G>C	c.(793-795)gGa>gCa	p.G265A	ZNF347_ENST00000452676.2_Missense_Mutation_p.G266A|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.G266A	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	265					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATGCCACATCCATTAGATTT	0.368																																					Melanoma(64;205 1597 17324 45721)	dbGAP											0													130.0	129.0	129.0					19																	53645287		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.794G>C	19.37:g.53645287C>G	ENSP00000334146:p.Gly265Ala		B3KU77|B9EG59|G5E9N4|Q8TCN1	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.G266A	ENST00000334197.7	37	c.797	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	C	1.625	-0.520508	0.04171	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.27256	1.68;1.68	1.9	-0.551	0.11822	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11922	0.0290	N	0.12527	0.23	0.09310	N	1	B;B	0.21753	0.06;0.003	B;B	0.21151	0.033;0.001	T	0.26573	-1.0099	9	0.72032	D	0.01	.	2.4964	0.04622	0.4161:0.1422:0.0:0.4417	.	266;265	G5E9N4;Q96SE7	.;ZN347_HUMAN	A	265;266	ENSP00000334146:G265A;ENSP00000405218:G266A	ENSP00000334146:G265A	G	-	2	0	ZNF347	58337099	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.282000	0.02799	-0.396000	0.07703	-1.364000	0.01208	GGA	ZNF347	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.368	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	342	0.00	0	C	NM_032584		53645287	53645287	-1	no_errors	ENST00000452676	ensembl	human	known	69_37n	missense	339	21.25	92	SNP	0.000	G
