#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
ECM1	1893	genome.wustl.edu	37	1	150483831	150483831	+	Intron	SNP	A	A	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:150483831A>T	ENST00000369047.4	+	7	833				ECM1_ENST00000369049.4_Intron|ECM1_ENST00000346569.6_Intron|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1						angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AGCAGAGGACAACCACTGTCT	0.577													ENSG00000143369																									Melanoma(156;1696 2560 11093 19685)												0																																										SO:0001627	intron_variant	0			-	U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.709-102A>T	1.37:g.150483831A>T			A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	R	SNP	-	NULL	ENST00000369047.4	37	NULL	CCDS953.1	1																																																																																			-	ECM1	-	-		0.577	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM1	HGNC	protein_coding	OTTHUMT00000035832.2	0	0	0	31	31	46	0.00	0.00	A	NM_004425		150483831	+1	11	35	26	89	tier1	no_errors	ENST00000470432	ensembl	human	known	74_37	rna	29.73	28.23	SNP	0.001	T	11	26
PIP5K1A	8394	genome.wustl.edu	37	1	151206962	151206962	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:151206962G>A	ENST00000368888.4	+	8	1351	c.929G>A	c.(928-930)cGt>cAt	p.R310H	PIP5K1A_ENST00000414290.2_Missense_Mutation_p.R11H|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.R297H|PIP5K1A_ENST00000464105.1_3'UTR|PIP5K1A_ENST00000441902.2_Missense_Mutation_p.R298H|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.R298H	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	310	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACCCTGCAGCGTGACTGTTTG	0.408													ENSG00000143398																									Pancreas(80;36 1443 2325 16095 21302)												0													70.0	67.0	68.0					1																	151206962		2203	4300	6503	SO:0001583	missense	0			-	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.929G>A	1.37:g.151206962G>A	ENSP00000357883:p.Arg310His		A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R310H	ENST00000368888.4	37	c.929	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.245662	0.95272	.	.	ENSG00000143398	ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888;ENST00000414290	T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24	5.26	5.26	0.73747	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.86805	2.84	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.976;1.0;0.979;1.0	D;P;D;P;D	0.91635	0.981;0.576;0.999;0.833;0.999	T	0.68112	-0.5495	10	0.87932	D	0	.	18.735	0.91750	0.0:0.0:1.0:0.0	.	11;298;297;310;297	B4DY52;Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;.;PI51A_HUMAN;.	H	297;298;298;297;310;11	ENSP00000271663:R297H;ENSP00000386432:R298H;ENSP00000415648:R298H;ENSP00000357885:R297H;ENSP00000357883:R310H;ENSP00000388800:R11H	ENSP00000271663:R297H	R	+	2	0	PIP5K1A	149473586	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.604000	0.98317	2.771000	0.95319	0.580000	0.79431	CGT	-	PIP5K1A	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub		0.408	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	0	0	0	75	75	66	0.00	0.00	G	NM_003557		151206962	+1	28	44	77	136	tier1	no_errors	ENST00000368888	ensembl	human	known	74_37	missense	26.67	24.31	SNP	1.000	A	28	77
CCT6P3	643180	genome.wustl.edu	37	7	64531307	64531307	+	RNA	SNP	G	G	C	rs553060675		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr7:64531307G>C	ENST00000426828.1	+	0	1115				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		TCCGGGTGCTGGTGCTGTGGA	0.433													ENSG00000234585	g|||	1	0.000199681	0.0008	0.0	5008	,	,		20208	0.0		0.0	False		,,,				2504	0.0																0																																												0			-			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64531307G>C				R	SNP	-	NULL	ENST00000426828.1	37	NULL		7																																																																																			-	CCT6P3	-	-		0.433	CCT6P3-004	KNOWN	basic	processed_transcript	CCT6P3	HGNC	pseudogene	OTTHUMT00000344862.1	0	0	0	111	111	13	0.00	0.00	G			64531307	+1	38	9	63	28	tier1	no_errors	ENST00000426828	ensembl	human	known	74_37	rna	37.62	24.32	SNP	1.000	C	38	63
GNG7	2788	genome.wustl.edu	37	19	2642868	2642868	+	Intron	SNP	C	C	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:2642868C>A	ENST00000382159.3	-	2	121				CTC-265F19.1_ENST00000587894.1_RNA	NM_052847.2	NP_443079.1	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein), gamma 7						behavioral fear response (GO:0001662)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of adenylate cyclase activity (GO:0045761)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGTCTGAGCCCTCTCCGGGC	0.632													ENSG00000267749																																					0																																										SO:0001627	intron_variant	0			-	AB010414	CCDS12091.1	19p13.3	2010-02-17			ENSG00000176533	ENSG00000176533			4410	protein-coding gene	gene with protein product		604430				9600093	Standard	NM_052847		Approved	FLJ00058	uc002lwd.2	O60262		ENST00000382159.3:c.76+3353G>T	19.37:g.2642868C>A			B2R496	R	SNP	-	NULL	ENST00000382159.3	37	NULL	CCDS12091.1	19																																																																																			-	CTC-265F19.1	-	-		0.632	GNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267749	Clone_based_vega_gene	protein_coding	OTTHUMT00000451345.1	0	0	0	58	58	30	0.00	0.00	C	NM_052847		2642868	-1	5	11	36	26	tier1	no_errors	ENST00000587894	ensembl	human	known	74_37	rna	12.20	29.73	SNP	0.017	A	5	36
KIF20A	10112	genome.wustl.edu	37	5	137520246	137520246	+	Missense_Mutation	SNP	T	T	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:137520246T>A	ENST00000394894.3	+	13	1790	c.1564T>A	c.(1564-1566)Tcg>Acg	p.S522T	KIF20A_ENST00000508792.1_Missense_Mutation_p.S504T	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	522					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ATCCCTGCACTCGTTCATCAA	0.458													ENSG00000112984																																					0													136.0	135.0	135.0					5																	137520246		2203	4300	6503	SO:0001583	missense	0			-	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1564T>A	5.37:g.137520246T>A	ENSP00000378356:p.Ser522Thr		B4DL79|D3DQB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S522T	ENST00000394894.3	37	c.1564	CCDS4199.1	5	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650474	0.29336	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.71817	-0.59;-0.6	5.1	3.92	0.45320	.	0.000000	0.34725	N	0.003723	T	0.59074	0.2167	L	0.32530	0.975	0.49213	D	0.999763	B;B	0.24483	0.021;0.104	B;B	0.27608	0.06;0.081	T	0.52358	-0.8586	10	0.28530	T	0.3	-4.8217	11.6861	0.51487	0.0:0.0:0.2791:0.7209	.	504;522	B4DL79;O95235	.;KI20A_HUMAN	T	522;504	ENSP00000378356:S522T;ENSP00000420880:S504T	ENSP00000378356:S522T	S	+	1	0	KIF20A	137548145	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	3.860000	0.55995	0.921000	0.36994	0.455000	0.32223	TCG	-	KIF20A	-	NULL		0.458	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF20A	HGNC	protein_coding	OTTHUMT00000251272.1	0	0	0	54	54	50	0.00	0.00	T	NM_005733		137520246	+1	17	35	30	65	tier1	no_errors	ENST00000394894	ensembl	human	known	74_37	missense	36.17	35.00	SNP	1.000	A	17	30
SMARCAL1	50485	genome.wustl.edu	37	2	217279860	217279860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:217279860C>T	ENST00000357276.4	+	3	763	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SMARCAL1_ENST00000358207.5_Nonsense_Mutation_p.Q145*|AC098820.2_ENST00000457694.1_RNA	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	145					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGAGTTAGGTCAAGGTCATGC	0.502									Schimke Immuno-Osseous Dysplasia				ENSG00000138375																																					0													122.0	111.0	114.0					2																	217279860		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	SIOD	-	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.433C>T	2.37:g.217279860C>T	ENSP00000349823:p.Gln145*		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Nonsense_Mutation	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q145*	ENST00000357276.4	37	c.433	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986011	0.93044	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000358207;ENST00000427645;ENST00000392128	.	.	.	4.9	2.03	0.26663	.	0.523824	0.18661	N	0.134721	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.0146	8.9109	0.35552	0.0:0.6266:0.2931:0.0803	.	.	.	.	X	145;145;145;44;9	.	ENSP00000349823:Q145X	Q	+	1	0	SMARCAL1	216988105	0.000000	0.05858	0.002000	0.10522	0.059000	0.15707	-0.057000	0.11768	0.240000	0.21263	0.655000	0.94253	CAA	-	SMARCAL1	-	NULL		0.502	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	0	0	0	61	61	58	0.00	0.00	C			217279860	+1	25	42	13	31	tier1	no_errors	ENST00000357276	ensembl	human	known	74_37	nonsense	65.79	56.76	SNP	0.003	T	25	13
CSN2	1447	genome.wustl.edu	37	4	70823302	70823302	+	Missense_Mutation	SNP	G	G	A	rs140189537	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr4:70823302G>A	ENST00000353151.3	-	5	376	c.365C>T	c.(364-366)aCg>aTg	p.T122M		NM_001891.2	NP_001882.1	P61201	CSN2_HUMAN	casein beta	0					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAAGGGTATCGTTGGAGATTT	0.488													ENSG00000135222																																					0								G	MET/THR	0,4406		0,0,2203	114.0	115.0	115.0		365	-8.5	0.0	4	dbSNP_134	115	7,8593	5.7+/-21.5	0,7,4293	yes	missense	CSN2	NM_001891.2	81	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	benign	122/227	70823302	7,12999	2203	4300	6503	SO:0001583	missense	0			-	X17070	CCDS3532.1	4q21.1	2008-02-05			ENSG00000135222	ENSG00000135222			2447	protein-coding gene	gene with protein product		115460		CASB		1577486	Standard	NM_001891		Approved		uc003hes.4	P05814	OTTHUMG00000129409	ENST00000353151.3:c.365C>T	4.37:g.70823302G>A	ENSP00000341030:p.Thr122Met		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_Casein,pirsf_Casein_beta	p.T122M	ENST00000353151.3	37	c.365	CCDS3532.1	4	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025402	0.07589	0.0	8.14E-4	ENSG00000135222	ENST00000353151	.	.	.	4.26	-8.52	0.00920	.	2.980090	0.01164	N	0.006715	T	0.16642	0.0400	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.14868	-1.0457	9	0.56958	D	0.05	-27.0625	1.4231	0.02317	0.4238:0.0915:0.2104:0.2742	.	122	P05814	CASB_HUMAN	M	122	.	ENSP00000341030:T122M	T	-	2	0	CSN2	70857891	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.787000	0.01764	-2.918000	0.00305	-3.218000	0.00053	ACG	rs140189537	CSN2	-	pirsf_Casein_beta		0.488	CSN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSN2	HGNC	protein_coding	OTTHUMT00000251565.1	0	0	0	57	57	86	0.00	0.00	G			70823302	-1	18	42	18	36	tier1	no_errors	ENST00000353151	ensembl	human	known	74_37	missense	50.00	53.85	SNP	0.000	A	18	18
GABRB3	2562	genome.wustl.edu	37	15	26793096	26793096	+	Silent	SNP	C	C	T	rs377621777		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr15:26793096C>T	ENST00000311550.5	-	9	1377	c.1266G>A	c.(1264-1266)ccG>ccA	p.P422P	GABRB3_ENST00000541819.2_Silent_p.P478P|GABRB3_ENST00000545868.1_Silent_p.P337P|GABRB3_ENST00000400188.3_Silent_p.P351P|GABRB3_ENST00000299267.4_Silent_p.P422P	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	422					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCTTCTTGTGCGGGAGGCTTC	0.493													ENSG00000166206																																					0								C	,,,	1,4405	2.1+/-5.4	0,1,2202	86.0	75.0	78.0		1266,1011,1053,1266	0.2	1.0	15		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GABRB3	NM_000814.5,NM_001191320.1,NM_001191321.1,NM_021912.4	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	422/474,337/389,351/403,422/474	26793096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.1266G>A	15.37:g.26793096C>T			B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.P422	ENST00000311550.5	37	c.1266	CCDS10019.1	15																																																																																			-	GABRB3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	0	0	0	40	40	53	0.00	0.00	C			26793096	-1	9	16	29	46	tier1	no_errors	ENST00000299267	ensembl	human	known	74_37	silent	23.68	25.81	SNP	0.973	T	9	29
NUDT10	170685	genome.wustl.edu	37	X	51076293	51076293	+	Missense_Mutation	SNP	C	C	T	rs140448074	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chrX:51076293C>T	ENST00000376006.3	+	2	696	c.476C>T	c.(475-477)tCg>tTg	p.S159L	NUDT10_ENST00000356450.2_Missense_Mutation_p.S159L	NM_153183.2	NP_694853.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	0					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					GCCCCATCCTCGCCAGATAGC	0.552													ENSG00000122824																									NSCLC(90;1817 2035 37909 38249)												0								C	LEU/SER	1,3834		0,0,1,1632,570	50.0	51.0	51.0		476	-3.2	0.0	X	dbSNP_134	51	0,6728		0,0,0,2428,1872	no	missense	NUDT10	NM_153183.2	145	0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095	benign	159/165	51076293	1,10562	2203	4300	6503	SO:0001583	missense	0			-	AF469196	CCDS35278.1	Xp11.22-p11.1	2014-05-20			ENSG00000122824	ENSG00000122824		"""Nudix motif containing"""	17621	protein-coding gene	gene with protein product		300527				12105228	Standard	NM_153183		Approved	DIPP3a, hDIPP3alpha	uc004dph.3	Q8NFP7	OTTHUMG00000021530	ENST00000376006.3:c.476C>T	X.37:g.51076293C>T	ENSP00000365174:p.Ser159Leu		Q8NBN1|Q8NCB9|Q8NG25	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.S159L	ENST00000376006.3	37	c.476	CCDS35278.1	X	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098597	0.07010	2.61E-4	0.0	ENSG00000122824	ENST00000376006;ENST00000356450	T;T	0.28255	1.62;1.62	3.14	-3.24	0.05094	.	0.827327	0.10897	N	0.622018	T	0.07863	0.0197	N	0.00926	-1.1	0.25088	N	0.990875	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	9	0.07990	T	0.79	-36.1108	8.7971	0.34885	0.0:0.5866:0.0:0.4134	.	159	Q8NFP7	NUD10_HUMAN	L	159	ENSP00000365174:S159L;ENSP00000348831:S159L	ENSP00000348831:S159L	S	+	2	0	NUDT10	51093033	0.000000	0.05858	0.000000	0.03702	0.154000	0.21943	0.176000	0.16782	-0.956000	0.03631	-0.435000	0.05868	TCG	rs140448074	NUDT10	-	NULL		0.552	NUDT10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NUDT10	HGNC	protein_coding	OTTHUMT00000056578.1	0	0	0	51	51	10	0.00	0.00	C	NM_153183		51076293	+1	23	13	22	22	tier1	no_errors	ENST00000356450	ensembl	human	known	74_37	missense	51.11	37.14	SNP	0.001	T	23	22
CDK12	51755	genome.wustl.edu	37	17	37627390	37627390	+	Silent	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:37627390A>G	ENST00000447079.4	+	2	1338	c.1305A>G	c.(1303-1305)gtA>gtG	p.V435V	CDK12_ENST00000430627.2_Silent_p.V435V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	435					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACAGTTCAGTAGAGGCTAAGG	0.418			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			ENSG00000167258																												Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													70.0	71.0	70.0					17																	37627390		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1305A>G	17.37:g.37627390A>G			A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V435	ENST00000447079.4	37	c.1305	CCDS11337.1	17																																																																																			-	CDK12	-	NULL		0.418	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	0	0	0	32	32	111	0.00	0.00	A	NM_016507		37627390	+1	6	38	28	133	tier1	no_errors	ENST00000447079	ensembl	human	known	74_37	silent	17.65	22.22	SNP	0.931	G	6	28
ITGB4	3691	genome.wustl.edu	37	17	73748323	73748323	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:73748323C>T	ENST00000200181.3	+	31	4049	c.3862C>T	c.(3862-3864)Ctt>Ttt	p.L1288F	ITGB4_ENST00000339591.3_Missense_Mutation_p.L1288F|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.L1288F|ITGB4_ENST00000449880.2_Missense_Mutation_p.L1288F|ITGB4_ENST00000450894.3_Missense_Mutation_p.L1288F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1288	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATTGAGAACCTTCGGGAGTC	0.617													ENSG00000132470																																					0													141.0	136.0	138.0					17																	73748323		2203	4300	6503	SO:0001583	missense	0			-		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3862C>T	17.37:g.73748323C>T	ENSP00000200181:p.Leu1288Phe		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3	p.L1288F	ENST00000200181.3	37	c.3862	CCDS11727.1	17	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394735	0.42512	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.84873	-1.91;-1.91;-1.91	5.07	3.07	0.35406	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	D	0.92427	0.7596	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.996;1.0	D	0.91678	0.5356	10	0.87932	D	0	.	9.4858	0.38928	0.0:0.7709:0.0:0.2291	.	1288;1288;1288	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	F	1288	ENSP00000200181:L1288F;ENSP00000344079:L1288F;ENSP00000400217:L1288F	ENSP00000200181:L1288F	L	+	1	0	ITGB4	71259918	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	2.747000	0.47475	0.534000	0.28695	0.561000	0.74099	CTT	-	ITGB4	-	pirsf_Integrin_bsu-4,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.617	ITGB4-001	KNOWN	basic|CCDS	protein_coding	ITGB4	HGNC	protein_coding	OTTHUMT00000448334.1	0	0	1	23	23	54	0.00	1.82	C			73748323	+1	6	23	12	59	tier1	no_errors	ENST00000200181	ensembl	human	known	74_37	missense	33.33	28.05	SNP	1.000	T	6	12
LAMC1	3915	genome.wustl.edu	37	1	183094669	183094669	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:183094669G>A	ENST00000258341.4	+	15	3042	c.2785G>A	c.(2785-2787)Ggg>Agg	p.G929R	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	929	Laminin EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TCTGCAGAGTGGGCAAGGCTG	0.443													ENSG00000135862																																					0													128.0	100.0	110.0					1																	183094669		2203	4300	6503	SO:0001583	missense	0			-	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.2785G>A	1.37:g.183094669G>A	ENSP00000258341:p.Gly929Arg		Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.G929R	ENST00000258341.4	37	c.2785	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853733	0.91355	.	.	ENSG00000135862	ENST00000258341	T	0.54279	0.58	5.51	5.51	0.81932	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.79839	0.4515	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84237	0.0470	10	0.87932	D	0	.	19.4089	0.94660	0.0:0.0:1.0:0.0	.	929	P11047	LAMC1_HUMAN	R	929	ENSP00000258341:G929R	ENSP00000258341:G929R	G	+	1	0	LAMC1	181361292	1.000000	0.71417	0.937000	0.37676	0.929000	0.56500	9.135000	0.94478	2.583000	0.87209	0.563000	0.77884	GGG	-	LAMC1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.443	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	0	0	1	106	106	74	0.00	1.33	G	NM_002293		183094669	+1	20	22	172	191	tier1	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	10.42	10.33	SNP	1.000	A	20	172
C11orf44	283171	genome.wustl.edu	37	11	130542983	130542983	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:130542983C>T	ENST00000317019.2	+	1	133	c.110C>T	c.(109-111)tCc>tTc	p.S37F		NM_001271983.1	NP_001258912.1	Q8N8P7	CK044_HUMAN	chromosome 11 open reading frame 44	37						extracellular region (GO:0005576)				central_nervous_system(1)	1						CTCCAGCCGTCCTGTGAGCTC	0.602													ENSG00000175728																																					0													48.0	45.0	46.0					11																	130542983		692	1591	2283	SO:0001583	missense	0			-	AK096377	CCDS8489.1	11q24.3	2005-10-27			ENSG00000175728	ENSG00000175728			26805	protein-coding gene	gene with protein product							Standard	NM_001271983		Approved	FLJ39058	uc031qfg.1	Q8N8P7	OTTHUMG00000150705	ENST00000317019.2:c.110C>T	11.37:g.130542983C>T	ENSP00000326394:p.Ser37Phe			Missense_Mutation	SNP	NULL	p.S37F	ENST00000317019.2	37	c.110		11	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985375	0.18889	.	.	ENSG00000175728	ENST00000317019	.	.	.	3.74	-0.355	0.12587	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40365	-0.9567	5	0.87932	D	0	.	6.1738	0.20433	0.0:0.491:0.0:0.509	.	.	.	.	F	37	.	ENSP00000326394:S37F	S	+	2	0	C11orf44	130048193	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.724000	0.04947	-0.047000	0.13423	-0.768000	0.03414	TCC	-	C11orf44	-	NULL		0.602	C11orf44-001	PUTATIVE	basic|appris_principal	protein_coding	C11orf44	HGNC	protein_coding	OTTHUMT00000319680.1	0	0	0	37	37	18	0.00	0.00	C	NM_173580		130542983	+1	17	21	18	11	tier1	no_errors	ENST00000317019	ensembl	human	putative	74_37	missense	48.57	65.62	SNP	0.001	T	17	18
OR6K6	128371	genome.wustl.edu	37	1	158725397	158725397	+	Silent	SNP	C	C	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:158725397C>A	ENST00000368144.2	+	1	888	c.792C>A	c.(790-792)gcC>gcA	p.A264A		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					ATCACAAGGCCTTTTCCACCT	0.468													ENSG00000180433																																					0													273.0	213.0	234.0					1																	158725397		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BK004198	CCDS30904.1	1q23.1	2012-08-09			ENSG00000180433	ENSG00000180433		"""GPCR / Class A : Olfactory receptors"""	15033	protein-coding gene	gene with protein product							Standard	NM_001005184		Approved		uc001fsw.1	Q8NGW6	OTTHUMG00000022772	ENST00000368144.2:c.792C>A	1.37:g.158725397C>A			B9EIM8|Q5VUU9|Q6IFR4	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A264	ENST00000368144.2	37	c.792	CCDS30904.1	1																																																																																			-	OR6K6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR6K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K6	HGNC	protein_coding	OTTHUMT00000059065.2	0	0	0	113	113	49	0.00	0.00	C	NM_001005184		158725397	+1	44	50	119	105	tier1	no_errors	ENST00000368144	ensembl	human	known	74_37	silent	26.99	32.26	SNP	0.308	A	44	119
NBPF22P	285622	genome.wustl.edu	37	5	85592265	85592265	+	RNA	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:85592265G>A	ENST00000590707.1	+	0	1564					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		ATGACTTCAAGCCACTATGCT	0.438													ENSG00000205449																																					0																																												0			-	BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85592265G>A				R	SNP	-	NULL	ENST00000590707.1	37	NULL		5																																																																																			-	NBPF22P	-	-		0.438	NBPF22P-004	KNOWN	basic	processed_transcript	NBPF22P	HGNC	pseudogene	OTTHUMT00000453100.1	0	0	0	112	112	32	0.00	0.00	G	XM_208333		85592265	+1	48	18	65	40	tier1	no_errors	ENST00000590707	ensembl	human	known	74_37	rna	42.11	31.03	SNP	0.000	A	48	65
ZNF454	285676	genome.wustl.edu	37	5	178373906	178373906	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:178373906G>A	ENST00000320129.3	+	4	472	c.169G>A	c.(169-171)Gga>Aga	p.G57R	ZNF454_ENST00000519564.1_Missense_Mutation_p.G57R	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGGACTCTTAGGACCCAAACC	0.453													ENSG00000178187																																					0													115.0	117.0	116.0					5																	178373906		2203	4300	6503	SO:0001583	missense	0			-	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.169G>A	5.37:g.178373906G>A	ENSP00000326249:p.Gly57Arg		Q2M1P2|Q2M323	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.G57R	ENST00000320129.3	37	c.169	CCDS4441.1	5	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308341	0.40895	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.00776	5.71;5.71	4.19	3.31	0.37934	Krueppel-associated box (3);	0.000000	0.33732	N	0.004610	T	0.00875	0.0029	L	0.31664	0.95	0.31421	N	0.674299	P	0.48162	0.906	B	0.44163	0.443	T	0.54957	-0.8215	10	0.41790	T	0.15	-6.1237	9.4472	0.38703	0.0:0.0:0.7883:0.2117	.	57	Q8N9F8	ZN454_HUMAN	R	57	ENSP00000326249:G57R;ENSP00000430354:G57R	ENSP00000326249:G57R	G	+	1	0	ZNF454	178306512	0.665000	0.27466	1.000000	0.80357	0.958000	0.62258	2.602000	0.46257	1.097000	0.41459	0.563000	0.77884	GGA	-	ZNF454	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF454	HGNC	protein_coding	OTTHUMT00000253476.2	0	0	0	50	50	71	0.00	0.00	G	XM_209718		178373906	+1	22	50	34	92	tier1	no_errors	ENST00000320129	ensembl	human	known	74_37	missense	39.29	34.72	SNP	1.000	A	22	34
MAMDC4	158056	genome.wustl.edu	37	9	139750925	139750925	+	Missense_Mutation	SNP	G	G	T	rs191106356		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr9:139750925G>T	ENST00000445819.1	+	16	1905	c.1855G>T	c.(1855-1857)Gtc>Ttc	p.V619F	MAMDC4_ENST00000317446.2_Intron|MAMDC4_ENST00000485732.1_3'UTR					MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGGAGTTTGTCGGTTTGGT	0.632													ENSG00000177943	G|||	1	0.000199681	0.0008	0.0	5008	,	,		16389	0.0		0.0	False		,,,				2504	0.0																0													92.0	87.0	88.0					9																	139750925		875	1991	2866	SO:0001583	missense	0			GMAF=0.0005	AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000445819.1:c.1855G>T	9.37:g.139750925G>T	ENSP00000411339:p.Val619Phe			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.V619F	ENST00000445819.1	37	c.1855		9	1|1	4.578754578754579E-4|4.578754578754579E-4	1|1	0.0020325203252032522|0.0020325203252032522	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	.|.	11.98|11.98	1.801548|1.801548	0.31869|0.31869	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000413647|ENST00000445819	.|T	.|0.02197	.|4.4	5.09|5.09	0.787|0.787	0.18596|0.18596	.|.	.|.	.|.	.|.	.|.	T|T	0.02156|0.02156	0.0067|0.0067	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50250|0.50250	-0.8850|-0.8850	4|5	.|.	.|.	.|.	.|.	6.7356|6.7356	0.23407|0.23407	0.1875:0.3362:0.4763:0.0|0.1875:0.3362:0.4763:0.0	.|.	.|.	.|.	.|.	F|F	604|619	.|ENSP00000411339:V619F	.|.	C|V	+|+	2|1	0|0	MAMDC4|MAMDC4	138870746|138870746	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.039000|0.039000	0.13416|0.13416	0.348000|0.348000	0.20031|0.20031	0.143000|0.143000	0.18926|0.18926	-0.275000|-0.275000	0.10095|0.10095	TGT|GTC	rs191106356	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.632	MAMDC4-201	KNOWN	basic|appris_principal	protein_coding	MAMDC4	HGNC	protein_coding		0	0	0	70	70	46	0.00	0.00	G	NM_206920		139750925	+1	17	16	35	61	tier1	no_errors	ENST00000445819	ensembl	human	known	74_37	missense	32.69	20.78	SNP	0.000	T	17	35
RAD18	56852	genome.wustl.edu	37	3	8981242	8981242	+	Missense_Mutation	SNP	T	T	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr3:8981242T>C	ENST00000264926.2	-	6	816	c.700A>G	c.(700-702)Aga>Gga	p.R234G	RAD18_ENST00000495087.1_5'Flank	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 E3 ubiquitin protein ligase	234					DNA repair (GO:0006281)|negative regulation of DNA recombination (GO:0045910)|protein ubiquitination (GO:0016567)|response to UV (GO:0009411)|spermatogenesis (GO:0007283)	chromatin (GO:0000785)|nucleus (GO:0005634)|replication fork (GO:0005657)|XY body (GO:0001741)	damaged DNA binding (GO:0003684)|ligase activity (GO:0016874)|polyubiquitin binding (GO:0031593)|ubiquitin protein ligase binding (GO:0031625)|Y-form DNA binding (GO:0000403)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		CCTTACCTTCTGAGGCTTTCC	0.433								Rad6 pathway					ENSG00000070950																																					0													183.0	190.0	188.0					3																	8981242		2203	4300	6503	SO:0001583	missense	0			-		CCDS2571.1	3p25-p24	2014-08-04	2014-08-04		ENSG00000070950	ENSG00000070950		"""RING-type (C3HC4) zinc fingers"""	18278	protein-coding gene	gene with protein product		605256	"""RAD18 homolog (S. cerevisiae)"""			10884424, 10908344	Standard	NM_020165		Approved	RNF73	uc003brd.3	Q9NS91	OTTHUMG00000090545	ENST00000264926.2:c.700A>G	3.37:g.8981242T>C	ENSP00000264926:p.Arg234Gly		Q58F55|Q9NRT6	Missense_Mutation	SNP	pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom	p.R234G	ENST00000264926.2	37	c.700	CCDS2571.1	3	.	.	.	.	.	.	.	.	.	.	T	18.59	3.657513	0.67586	.	.	ENSG00000070950	ENST00000264926	T	0.27402	1.67	5.77	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.37348	0.1000	M	0.77103	2.36	0.50313	D	0.999861	P	0.37663	0.604	B	0.38803	0.282	T	0.37820	-0.9689	10	0.54805	T	0.06	.	14.3297	0.66548	0.0:0.0:0.5826:0.4174	.	234	Q9NS91	RAD18_HUMAN	G	234	ENSP00000264926:R234G	ENSP00000264926:R234G	R	-	1	2	RAD18	8956242	0.405000	0.25336	0.931000	0.37212	0.896000	0.52359	0.350000	0.20079	0.032000	0.15435	0.528000	0.53228	AGA	-	RAD18	-	NULL		0.433	RAD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD18	HGNC	protein_coding	OTTHUMT00000207071.2	0	0	0	88	88	63	0.00	0.00	T	NM_020165		8981242	-1	29	46	63	85	tier1	no_errors	ENST00000264926	ensembl	human	known	74_37	missense	31.52	34.85	SNP	0.932	C	29	63
PLCE1	51196	genome.wustl.edu	37	10	96058263	96058263	+	Silent	SNP	C	C	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr10:96058263C>A	ENST00000371380.3	+	23	5530	c.5295C>A	c.(5293-5295)gcC>gcA	p.A1765A	PLCE1_ENST00000371385.3_Silent_p.A1457A|PLCE1_ENST00000371375.1_Silent_p.A1457A|PLCE1_ENST00000260766.3_Silent_p.A1765A			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1765	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAAATGCCGCCAAACGTCTGT	0.522													ENSG00000138193																																					0													77.0	77.0	77.0					10																	96058263		1968	4152	6120	SO:0001819	synonymous_variant	0			-		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5295C>A	10.37:g.96058263C>A			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.A1765	ENST00000371380.3	37	c.5295	CCDS41552.1	10																																																																																			-	PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y		0.522	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	0	0	0	49	49	40	0.00	0.00	C	NM_016341		96058263	+1	14	14	26	49	tier1	no_errors	ENST00000260766	ensembl	human	known	74_37	silent	35.00	22.22	SNP	1.000	A	14	26
LRRC59	55379	genome.wustl.edu	37	17	48460388	48460388	+	Missense_Mutation	SNP	C	C	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:48460388C>G	ENST00000225972.7	-	7	1120	c.885G>C	c.(883-885)gaG>gaC	p.E295D		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	295						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			ACTGGAGGATCTCATGGCGGC	0.592													ENSG00000108829																																					0													83.0	72.0	76.0					17																	48460388		2203	4300	6503	SO:0001583	missense	0			-	AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.885G>C	17.37:g.48460388C>G	ENSP00000225972:p.Glu295Asp		B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E295D	ENST00000225972.7	37	c.885	CCDS11566.1	17	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596325	0.28445	.	.	ENSG00000108829	ENST00000225972	T	0.44083	0.93	5.98	1.4	0.22301	.	0.645972	0.16970	N	0.192157	T	0.20740	0.0499	N	0.21448	0.665	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07385	-1.0775	10	0.14656	T	0.56	.	2.6736	0.05075	0.1442:0.2224:0.495:0.1383	.	295	Q96AG4	LRC59_HUMAN	D	295	ENSP00000225972:E295D	ENSP00000225972:E295D	E	-	3	2	LRRC59	45815387	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.779000	0.26746	0.884000	0.36064	0.591000	0.81541	GAG	-	LRRC59	-	NULL		0.592	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC59	HGNC	protein_coding	OTTHUMT00000367117.2	0	0	0	53	53	24	0.00	0.00	C	NM_018509		48460388	-1	17	19	37	50	tier1	no_errors	ENST00000225972	ensembl	human	known	74_37	missense	31.48	27.54	SNP	0.997	G	17	37
CAST	831	genome.wustl.edu	37	5	96098915	96098915	+	Intron	SNP	C	C	T	rs372808514		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:96098915C>T	ENST00000341926.3	+	23	1845				CAST_ENST00000359176.4_Intron|CAST_ENST00000325674.7_Intron|CAST_ENST00000395812.2_Intron|CAST_ENST00000395813.1_Intron|CAST_ENST00000348386.3_Intron|CAST_ENST00000309190.5_Intron|CAST_ENST00000510756.1_Intron|CAST_ENST00000508608.1_Intron|CAST_ENST00000338252.3_Intron|CAST_ENST00000509903.1_Intron|CAST_ENST00000511782.1_Intron|CAST_ENST00000508830.1_Intron|CAST_ENST00000504465.1_Intron|CAST_ENST00000508579.1_Intron|CAST_ENST00000511049.1_Intron|ERAP1_ENST00000296754.3_Missense_Mutation_p.A946T|CAST_ENST00000515663.1_Intron			P20810	ICAL_HUMAN	calpastatin						negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CATCCTGTTGCGTCAGCTTCA	0.443													ENSG00000164307																																					0								C	,,THR/ALA,	0,4406		0,0,2203	136.0	122.0	127.0		,,2836,	-2.2	0.0	5		127	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	CAST,ERAP1	NM_001042440.2,NM_001190442.1,NM_016442.3,NM_173060.3	,,58,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,benign,	,,946/949,	96098915	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			-	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1683+839C>T	5.37:g.96098915C>T			B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.A946T	ENST00000341926.3	37	c.2836		5	.	.	.	.	.	.	.	.	.	.	C	9.409	1.080142	0.20309	0.0	1.16E-4	ENSG00000164307	ENST00000296754	T	0.01335	5.0	4.41	-2.15	0.07102	.	1.138800	0.06920	N	0.809245	T	0.01092	0.0036	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49399	-0.8944	9	0.51188	T	0.08	.	0.9399	0.01353	0.1738:0.2775:0.2697:0.279	.	946	Q9NZ08-2	.	T	946	ENSP00000296754:A946T	ENSP00000296754:A946T	A	-	1	0	ERAP1	96124671	0.001000	0.12720	0.000000	0.03702	0.743000	0.42351	-0.098000	0.11024	-0.597000	0.05813	-0.766000	0.03442	GCA	-	ERAP1	-	NULL		0.443	CAST-004	KNOWN	basic	protein_coding	ERAP1	HGNC	protein_coding	OTTHUMT00000250199.2	0	0	0	46	46	37	0.00	0.00	C	NM_173062		96098915	-1	33	29	41	31	tier1	no_errors	ENST00000296754	ensembl	human	known	74_37	missense	44.59	48.33	SNP	0.000	T	33	41
WWC1	23286	genome.wustl.edu	37	5	167894930	167894930	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:167894930G>A	ENST00000265293.4	+	22	3738	c.3236G>A	c.(3235-3237)gGc>gAc	p.G1079D	WWC1_ENST00000521089.1_Missense_Mutation_p.G1085D	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1079	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGGCTCCGAGGCCAGAGCTGT	0.592													ENSG00000113645																																					0													75.0	76.0	76.0					5																	167894930		2203	4300	6503	SO:0001583	missense	0			-	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3236G>A	5.37:g.167894930G>A	ENSP00000265293:p.Gly1079Asp		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G1079D	ENST00000265293.4	37	c.3236	CCDS4366.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.448852	0.84101	.	.	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.45276	0.9;0.9;0.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.64735	0.2625	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.993;0.999	T	0.64901	-0.6298	10	0.49607	T	0.09	.	18.9361	0.92586	0.0:0.0:1.0:0.0	.	1085;1079	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	D	1079;1085;410	ENSP00000265293:G1079D;ENSP00000427772:G1085D;ENSP00000428084:G410D	ENSP00000265293:G1079D	G	+	2	0	WWC1	167827508	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.618000	0.83043	2.479000	0.83701	0.591000	0.81541	GGC	-	WWC1	-	NULL		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	WWC1	HGNC	protein_coding	OTTHUMT00000252791.2	0	0	0	35	35	37	0.00	0.00	G	NM_015238		167894930	+1	7	27	12	43	tier1	no_errors	ENST00000265293	ensembl	human	known	74_37	missense	35.00	38.57	SNP	1.000	A	7	12
ATR	545	genome.wustl.edu	37	3	142185195	142185195	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr3:142185195A>G	ENST00000350721.4	-	40	6989	c.6868T>C	c.(6868-6870)Tgg>Cgg	p.W2290R	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.W2226R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2290					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						ATATAGGCCCAATGTCCAGGA	0.343								Other conserved DNA damage response genes					ENSG00000175054																																					0													150.0	136.0	141.0					3																	142185195		2203	4300	6503	SO:0001583	missense	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.6868T>C	3.37:g.142185195A>G	ENSP00000343741:p.Trp2290Arg		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	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.W2290R	ENST00000350721.4	37	c.6868	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.77|16.77	3.214922|3.214922	0.58452|0.58452	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|T;T	.|0.80653	.|-1.4;-1.4	5.33|5.33	5.33|5.33	0.75918|0.75918	.|Protein kinase-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80944|0.80944	0.4721|0.4721	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	.|P	.|0.51240	.|0.943	.|B	.|0.44278	.|0.445	T|T	0.80322|0.80322	-0.1431|-0.1431	5|10	.|0.28530	.|T	.|0.3	-1.2285|-1.2285	15.2758|15.2758	0.73739|0.73739	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|2290	.|Q13535	.|ATR_HUMAN	S|R	136|2290;2226	.|ENSP00000343741:W2290R;ENSP00000372581:W2226R	.|ENSP00000343741:W2290R	L|W	-|-	2|1	0|0	ATR|ATR	143667885|143667885	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.973000|0.973000	0.67179|0.67179	7.312000|7.312000	0.78968|0.78968	2.017000|2.017000	0.59298|0.59298	0.477000|0.477000	0.44152|0.44152	TTG|TGG	-	ATR	-	superfamily_Kinase-like_dom		0.343	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2	0	0	0	39	39	72	0.00	0.00	A	NM_001184		142185195	-1	20	58	36	95	tier1	no_errors	ENST00000350721	ensembl	human	known	74_37	missense	35.71	37.66	SNP	1.000	G	20	36
DDX19B	11269	genome.wustl.edu	37	16	70363935	70363935	+	Silent	SNP	G	G	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr16:70363935G>T	ENST00000288071.6	+	9	1232	c.987G>T	c.(985-987)ggG>ggT	p.G329G	DDX19B_ENST00000393657.2_Silent_p.G220G|DDX19B_ENST00000563392.1_Silent_p.G220G|DDX19B_ENST00000568625.1_Silent_p.G220G|DDX19B_ENST00000563206.1_Silent_p.G334G|DDX19B_ENST00000451014.3_Silent_p.G303G|DDX19B_ENST00000355992.3_Silent_p.G298G|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Intron	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	329	C-terminal lobe.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ACCTCTACGGGGCCATCACCA	0.572													ENSG00000157349																									Esophageal Squamous(26;382 757 1343 9728 15939)												0													157.0	126.0	136.0					16																	70363935		2198	4298	6496	SO:0001819	synonymous_variant	0			-	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.987G>T	16.37:g.70363935G>T			B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif	p.G329	ENST00000288071.6	37	c.987	CCDS10888.1	16																																																																																			-	DDX19B	-	superfamily_P-loop_NTPase,pfscan_Helicase_C		0.572	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3	0	0	0	103	103	45	0.00	0.00	G	NM_007242		70363935	+1	28	28	66	55	tier1	no_errors	ENST00000288071	ensembl	human	known	74_37	silent	29.79	33.73	SNP	1.000	T	28	66
BICD1	636	genome.wustl.edu	37	12	32369245	32369245	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:32369245C>T	ENST00000281474.5	+	2	381	c.278C>T	c.(277-279)aCg>aTg	p.T93M	BICD1_ENST00000548411.1_Missense_Mutation_p.T93M	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	93					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			CGGGAGGAAACGCTTCTGCAG	0.507													ENSG00000151746																																					0													102.0	98.0	100.0					12																	32369245		2203	4300	6503	SO:0001583	missense	0			-	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.278C>T	12.37:g.32369245C>T	ENSP00000281474:p.Thr93Met		A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom	p.T93M	ENST00000281474.5	37	c.278	CCDS8726.1	12	.	.	.	.	.	.	.	.	.	.	C	27.1	4.796057	0.90453	.	.	ENSG00000151746	ENST00000548411;ENST00000281474	T;T	0.48201	0.82;0.82	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.70605	0.3243	M	0.75447	2.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.917;0.988	T	0.72805	-0.4182	10	0.66056	D	0.02	.	19.5182	0.95174	0.0:1.0:0.0:0.0	.	93;93	F8W113;Q96G01	.;BICD1_HUMAN	M	93	ENSP00000446793:T93M;ENSP00000281474:T93M	ENSP00000281474:T93M	T	+	2	0	BICD1	32260512	1.000000	0.71417	0.946000	0.38457	0.883000	0.51084	7.589000	0.82641	2.603000	0.88011	0.655000	0.94253	ACG	-	BICD1	-	pfam_Bicaudal-D_microtubule-assoc		0.507	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICD1	HGNC	protein_coding	OTTHUMT00000403380.1	0	0	0	74	74	54	0.00	0.00	C	NM_001714		32369245	+1	19	14	39	55	tier1	no_errors	ENST00000281474	ensembl	human	known	74_37	missense	32.20	20.29	SNP	1.000	T	19	39
SAP130	79595	genome.wustl.edu	37	2	128700080	128700080	+	Missense_Mutation	SNP	A	A	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:128700080A>C	ENST00000259235.3	-	19	3035	c.2906T>G	c.(2905-2907)cTt>cGt	p.L969R	SAP130_ENST00000259234.6_Missense_Mutation_p.L977R|SAP130_ENST00000357702.5_Missense_Mutation_p.L1004R	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	969	Interactions with SIN3A and HDAC1.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CAGGTTAGTAAGTCTTTCATA	0.423													ENSG00000136715																																					0													240.0	191.0	208.0					2																	128700080		2203	4300	6503	SO:0001583	missense	0			-	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.2906T>G	2.37:g.128700080A>C	ENSP00000259235:p.Leu969Arg		B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	NULL	p.L1004R	ENST00000259235.3	37	c.3011	CCDS2153.1	2	.	.	.	.	.	.	.	.	.	.	.	25.2	4.614256	0.87359	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.79100	0.4389	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.81453	-0.0926	9	0.72032	D	0.01	-21.4296	15.8583	0.79000	1.0:0.0:0.0:0.0	.	1004;969;534;606	B7ZLM3;Q9H0E3;Q9H0E3-2;B3KRT9	.;SP130_HUMAN;.;.	R	1004;969;977	.	ENSP00000259234:L977R	L	-	2	0	SAP130	128416550	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	8.366000	0.90111	2.326000	0.78906	0.533000	0.62120	CTT	-	SAP130	-	NULL		0.423	SAP130-001	KNOWN	basic|CCDS	protein_coding	SAP130	HGNC	protein_coding	OTTHUMT00000254436.3	0	0	0	94	94	49	0.00	0.00	A	NM_024545		128700080	-1	29	23	61	63	tier1	no_errors	ENST00000357702	ensembl	human	known	74_37	missense	32.22	26.74	SNP	1.000	C	29	61
RPTN	126638	genome.wustl.edu	37	1	152128339	152128339	+	Missense_Mutation	SNP	A	A	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:152128339A>T	ENST00000316073.3	-	3	1300	c.1236T>A	c.(1234-1236)agT>agA	p.S412R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	412	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTAGTGGGAACTCTGGCCTT	0.512													ENSG00000215853																																					0													781.0	676.0	708.0					1																	152128339		1568	3582	5150	SO:0001583	missense	0			-	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1236T>A	1.37:g.152128339A>T	ENSP00000317895:p.Ser412Arg		B7ZBZ3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.S412R	ENST00000316073.3	37	c.1236	CCDS41397.1	1	.	.	.	.	.	.	.	.	.	.	a	11.29	1.595311	0.28445	.	.	ENSG00000215853	ENST00000316073;ENST00000541545	T	0.12361	2.69	4.48	-3.1	0.05315	.	.	.	.	.	T	0.06826	0.0174	M	0.82923	2.615	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.33445	-0.9868	9	0.14252	T	0.57	.	10.7772	0.46356	0.5328:0.0:0.4672:0.0	.	412	Q6XPR3	RPTN_HUMAN	R	412;67	ENSP00000317895:S412R	ENSP00000317895:S412R	S	-	3	2	RPTN	150394963	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.695000	0.05109	-0.501000	0.06605	0.323000	0.21402	AGT	-	RPTN	-	NULL		0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTN	HGNC	protein_coding	OTTHUMT00000333867.1	0	0	0	387	387	40	0.00	0.00	A	XM_371312		152128339	-1	146	32	370	111	tier1	no_errors	ENST00000316073	ensembl	human	known	74_37	missense	28.24	22.22	SNP	0.000	T	146	370
YWHAB	7529	genome.wustl.edu	37	20	43532648	43532648	+	Silent	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr20:43532648A>G	ENST00000372839.3	+	4	589	c.315A>G	c.(313-315)aaA>aaG	p.K105K	YWHAB_ENST00000353703.4_Silent_p.K105K|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta	105					activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|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)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGTTGGACAAATATCTTATTC	0.328													ENSG00000166913																																					0													86.0	85.0	85.0					20																	43532648		2203	4299	6502	SO:0001819	synonymous_variant	0			-	X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.315A>G	20.37:g.43532648A>G			A8K9K2|E1P616	Silent	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.K105	ENST00000372839.3	37	c.315	CCDS13339.1	20																																																																																			-	YWHAB	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3		0.328	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	0	0	0	65	65	65	0.00	0.00	A	NM_003404		43532648	+1	35	32	41	96	tier1	no_errors	ENST00000353703	ensembl	human	known	74_37	silent	46.05	25.00	SNP	1.000	G	35	41
MTMR9	66036	genome.wustl.edu	37	8	11177509	11177509	+	Intron	SNP	C	C	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr8:11177509C>A	ENST00000221086.3	+	9	1959				MTMR9_ENST00000526292.1_Intron|AF131216.6_ENST00000498997.2_RNA	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9							cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		TCTTTCAAATCAGTTATCTAG	0.368													ENSG00000246477																																					0																																										SO:0001627	intron_variant	0			-	AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.1486+162C>A	8.37:g.11177509C>A			B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	R	SNP	-	NULL	ENST00000221086.3	37	NULL	CCDS5979.1	8																																																																																			-	AF131216.6	-	-		0.368	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929290	Clone_based_vega_gene	protein_coding	OTTHUMT00000207307.2	0	0	0	22	22	28	0.00	0.00	C	NM_015458		11177509	-1	6	20	11	35	tier1	no_errors	ENST00000498997	ensembl	human	known	74_37	rna	35.29	36.36	SNP	0.000	A	6	11
POTEF	728378	genome.wustl.edu	37	2	130832919	130832919	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:130832919A>G	ENST00000409914.2	-	17	2525	c.2126T>C	c.(2125-2127)gTc>gCc	p.V709A	POTEF_ENST00000357462.5_Missense_Mutation_p.V709A|POTEF_ENST00000361163.4_3'UTR|POTEF_ENST00000360967.5_3'UTR	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	709	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GTTGTCAATGACGAGCACAGC	0.527													ENSG00000196604																																					0													11.0	11.0	11.0					2																	130832919		1970	4128	6098	SO:0001583	missense	0			-	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2126T>C	2.37:g.130832919A>G	ENSP00000386786:p.Val709Ala		A6NC34	Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.V709A	ENST00000409914.2	37	c.2126	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	15.22	2.768775	0.49680	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	D;D	0.97811	-4.55;-4.55	.	.	.	.	.	.	.	.	D	0.98861	0.9615	H	0.98629	4.285	0.80722	D	1	P	0.46987	0.888	D	0.63113	0.911	D	0.97201	0.9864	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	709	A5A3E0	POTEF_HUMAN	A	709	ENSP00000350052:V709A;ENSP00000386786:V709A	ENSP00000350052:V709A	V	-	2	0	POTEF	130549389	1.000000	0.71417	0.197000	0.23402	0.159000	0.22180	6.245000	0.72398	0.103000	0.17682	0.102000	0.15555	GTC	-	POTEF	-	pfam_Actin-related,smart_Actin-related		0.527	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	0	0	0	182	182	33	0.00	0.00	A	NM_001099771		130832919	-1	57	11	117	33	tier1	no_errors	ENST00000357462	ensembl	human	known	74_37	missense	32.76	25.00	SNP	1.000	G	57	117
FCRL1	115350	genome.wustl.edu	37	1	157772364	157772364	+	Missense_Mutation	SNP	G	G	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:157772364G>C	ENST00000368176.3	-	4	477	c.410C>G	c.(409-411)gCt>gGt	p.A137G	FCRL1_ENST00000491942.1_Missense_Mutation_p.A137G|FCRL1_ENST00000358292.3_Missense_Mutation_p.A137G|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	137	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTGCCCATAGCAACTGAGCA	0.542													ENSG00000163534																									GBM(54;482 1003 11223 30131 35730)												0													83.0	72.0	76.0					1																	157772364		2203	4300	6503	SO:0001583	missense	0			-	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.410C>G	1.37:g.157772364G>C	ENSP00000357158:p.Ala137Gly		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.A137G	ENST00000368176.3	37	c.410	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509166	0.27036	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.12361	2.69;2.69;2.69	5.52	3.61	0.41365	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.742385	0.12436	N	0.469134	T	0.26919	0.0659	M	0.91972	3.26	0.09310	N	1	D;D;D	0.58970	0.984;0.968;0.978	P;P;P	0.61592	0.853;0.891;0.829	T	0.13415	-1.0510	10	0.45353	T	0.12	.	11.6485	0.51275	0.0:0.0:0.6792:0.3208	.	137;137;137	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	G	137	ENSP00000351039:A137G;ENSP00000357158:A137G;ENSP00000418130:A137G	ENSP00000351039:A137G	A	-	2	0	FCRL1	156038988	0.002000	0.14202	0.001000	0.08648	0.175000	0.22909	1.171000	0.31896	0.772000	0.33382	-0.182000	0.12963	GCT	-	FCRL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.542	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	0	0	0	43	43	48	0.00	0.00	G	NM_052938		157772364	-1	15	38	56	121	tier1	no_errors	ENST00000368176	ensembl	human	known	74_37	missense	21.13	23.90	SNP	0.002	C	15	56
SYNJ2	8871	genome.wustl.edu	37	6	158490642	158490642	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:158490642C>T	ENST00000355585.4	+	14	1952	c.1877C>T	c.(1876-1878)tCg>tTg	p.S626L	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S626L|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S626L	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	626					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGTTGACTTCGGCACAGCTG	0.453													ENSG00000078269																																					0													168.0	147.0	154.0					6																	158490642		2203	4300	6503	SO:0001583	missense	0			-	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1877C>T	6.37:g.158490642C>T	ENSP00000347792:p.Ser626Leu		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.S626L	ENST00000355585.4	37	c.1877	CCDS5254.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.545992	0.96488	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	D;D;D	0.95690	-3.78;-3.78;-3.78	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.255357	0.28442	N	0.015332	D	0.97250	0.9101	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.95256	0.8364	10	0.62326	D	0.03	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	626;626	O15056;O15056-3	SYNJ2_HUMAN;.	L	626	ENSP00000356089:S626L;ENSP00000356088:S626L;ENSP00000347792:S626L	ENSP00000347792:S626L	S	+	2	0	SYNJ2	158410630	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.611000	0.82962	-0.034000	0.13713	0.650000	0.86243	TCG	-	SYNJ2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	HGNC	protein_coding	OTTHUMT00000042858.2	0	0	0	106	106	31	0.00	0.00	C			158490642	+1	39	31	81	48	tier1	no_errors	ENST00000355585	ensembl	human	known	74_37	missense	32.50	39.24	SNP	0.994	T	39	81
SP4	6671	genome.wustl.edu	37	7	21469742	21469742	+	Missense_Mutation	SNP	C	C	T	rs568588187		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr7:21469742C>T	ENST00000222584.3	+	3	1177	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	320					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCTCCCTCCTCCTCCACTACC	0.498													ENSG00000105866																																					0													160.0	107.0	125.0					7																	21469742		2203	4300	6503	SO:0001583	missense	0			-		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.959C>T	7.37:g.21469742C>T	ENSP00000222584:p.Ser320Phe		O60402|Q32M52	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S320F	ENST00000222584.3	37	c.959	CCDS5373.1	7	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041144	0.55003	.	.	ENSG00000105866	ENST00000222584	T	0.10668	2.85	4.94	4.94	0.65067	.	0.131590	0.56097	D	0.000032	T	0.26159	0.0638	L	0.46157	1.445	0.58432	D	0.999999	D	0.61697	0.99	D	0.69142	0.962	T	0.00619	-1.1641	10	0.29301	T	0.29	.	18.3502	0.90336	0.0:1.0:0.0:0.0	.	320	Q02446	SP4_HUMAN	F	320	ENSP00000222584:S320F	ENSP00000222584:S320F	S	+	2	0	SP4	21436267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.320000	0.79064	2.559000	0.86315	0.655000	0.94253	TCC	-	SP4	-	NULL		0.498	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP4	HGNC	protein_coding	OTTHUMT00000211617.2	0	0	0	97	97	50	0.00	0.00	C	NM_003112		21469742	+1	36	39	25	34	tier1	no_errors	ENST00000222584	ensembl	human	known	74_37	missense	59.02	53.42	SNP	1.000	T	36	25
PTPN22	26191	genome.wustl.edu	37	1	114372223	114372223	+	Silent	SNP	T	T	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:114372223T>A	ENST00000359785.5	-	18	2376	c.2241A>T	c.(2239-2241)acA>acT	p.T747T	RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000525799.1_Silent_p.T620T|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Silent_p.T692T|PTPN22_ENST00000420377.2_Silent_p.T747T|PTPN22_ENST00000538253.1_Silent_p.T503T	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	747					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTACTCCTTGTGAAACTTT	0.388													ENSG00000134242																																					0													113.0	114.0	113.0					1																	114372223		2202	4300	6502	SO:0001819	synonymous_variant	0			-	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2241A>T	1.37:g.114372223T>A			A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.T747	ENST00000359785.5	37	c.2241	CCDS863.1	1																																																																																			-	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22		0.388	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	0	0	0	74	74	41	0.00	0.00	T	NM_015967		114372223	-1	21	32	20	27	tier1	no_errors	ENST00000359785	ensembl	human	known	74_37	silent	51.22	54.24	SNP	1.000	A	21	20
NEB	4703	genome.wustl.edu	37	2	152426886	152426886	+	Silent	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:152426886A>G	ENST00000172853.10	-	81	12183	c.12036T>C	c.(12034-12036)caT>caC	p.H4012H	NEB_ENST00000604864.1_Silent_p.H5713H|NEB_ENST00000397345.3_Silent_p.H5713H|NEB_ENST00000427231.2_Silent_p.H5713H|NEB_ENST00000603639.1_Silent_p.H5713H|NEB_ENST00000409198.1_Silent_p.H4012H			P20929	NEBU_HUMAN	nebulin	4012					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)		TCTGCTTCTCATGGTCAAGCT	0.478													ENSG00000183091																																					0													38.0	37.0	38.0					2																	152426886		1951	4148	6099	SO:0001819	synonymous_variant	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.12036T>C	2.37:g.152426886A>G			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.H5713	ENST00000172853.10	37	c.17139		2																																																																																			-	NEB	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.478	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		0	0	0	68	68	38	0.00	0.00	A	NM_004543		152426886	-1	25	31	44	50	tier1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	36.23	38.27	SNP	0.065	G	25	44
RSPH1	89765	genome.wustl.edu	37	21	43905819	43905819	+	Missense_Mutation	SNP	T	T	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr21:43905819T>C	ENST00000291536.3	-	5	628	c.461A>G	c.(460-462)cAc>cGc	p.H154R	RSPH1_ENST00000398352.3_Missense_Mutation_p.H116R	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	154					axoneme assembly (GO:0035082)|meiotic nuclear division (GO:0007126)	cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleus (GO:0005634)				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTGGTTCAGGTGAATGAGCTC	0.522													ENSG00000160188																									Esophageal Squamous(23;63 706 6286 10288 12913)												0													153.0	132.0	139.0					21																	43905819		2203	4300	6503	SO:0001583	missense	0			-	AB006536	CCDS13688.1, CCDS68210.1	21q22.3	2014-02-03	2007-06-25	2007-06-25	ENSG00000160188	ENSG00000160188			12371	protein-coding gene	gene with protein product	"""meichroacidin"""	609314	"""testis specific A2 homolog (mouse)"""	TSGA2		9403069, 9578619, 17451891	Standard	XM_005261208		Approved	FLJ32753, RSP44, RSPH10A, CILD24	uc002zbg.3	Q8WYR4	OTTHUMG00000086804	ENST00000291536.3:c.461A>G	21.37:g.43905819T>C	ENSP00000291536:p.His154Arg		A8MWV0|B2RBN9|Q3MJA1	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.H154R	ENST00000291536.3	37	c.461	CCDS13688.1	21	.	.	.	.	.	.	.	.	.	.	T	22.4	4.289439	0.80914	.	.	ENSG00000160188	ENST00000291536;ENST00000398352	T;T	0.43688	0.94;0.95	4.99	4.99	0.66335	.	0.098668	0.64402	D	0.000001	T	0.66567	0.2802	M	0.87971	2.92	0.41794	D	0.989889	D	0.76494	0.999	D	0.63488	0.915	T	0.73017	-0.4115	10	0.51188	T	0.08	.	14.9985	0.71451	0.0:0.0:0.0:1.0	.	154	Q8WYR4	RSPH1_HUMAN	R	154;116	ENSP00000291536:H154R;ENSP00000381395:H116R	ENSP00000291536:H154R	H	-	2	0	RSPH1	42778888	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.306000	0.65756	2.023000	0.59567	0.459000	0.35465	CAC	-	RSPH1	-	smart_MORN		0.522	RSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH1	HGNC	protein_coding	OTTHUMT00000195379.1	0	0	0	47	47	82	0.00	0.00	T			43905819	-1	20	38	21	30	tier1	no_errors	ENST00000291536	ensembl	human	known	74_37	missense	48.78	55.88	SNP	1.000	C	20	21
IGF2BP1	10642	genome.wustl.edu	37	17	47117380	47117380	+	Missense_Mutation	SNP	A	A	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:47117380A>T	ENST00000290341.3	+	7	1079	c.745A>T	c.(745-747)Acc>Tcc	p.T249S	IGF2BP1_ENST00000431824.2_Intron	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	249	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.|Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTGCACTCCACCCCTGAGGG	0.512													ENSG00000159217																									Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													164.0	149.0	154.0					17																	47117380		2203	4300	6503	SO:0001583	missense	0			-	AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.745A>T	17.37:g.47117380A>T	ENSP00000290341:p.Thr249Ser		C9JT33	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.T249S	ENST00000290341.3	37	c.745	CCDS11543.1	17	.	.	.	.	.	.	.	.	.	.	A	16.55	3.155413	0.57259	.	.	ENSG00000159217	ENST00000290341	T	0.29917	1.55	5.65	5.65	0.86999	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.109676	0.64402	D	0.000009	T	0.21022	0.0506	N	0.16602	0.42	0.80722	D	1	B	0.19935	0.04	B	0.24006	0.05	T	0.07908	-1.0748	10	0.19147	T	0.46	-40.3288	14.8734	0.70478	1.0:0.0:0.0:0.0	.	249	Q9NZI8	IF2B1_HUMAN	S	249	ENSP00000290341:T249S	ENSP00000290341:T249S	T	+	1	0	IGF2BP1	44472379	1.000000	0.71417	0.953000	0.39169	0.873000	0.50193	7.508000	0.81686	2.146000	0.66826	0.533000	0.62120	ACC	-	IGF2BP1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.512	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	0	0	0	34	34	39	0.00	0.00	A	NM_006546		47117380	+1	11	18	24	18	tier1	no_errors	ENST00000290341	ensembl	human	known	74_37	missense	31.43	50.00	SNP	0.998	T	11	24
ALMS1	7840	genome.wustl.edu	37	2	73676394	73676394	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:73676394C>T	ENST00000264448.6	+	8	2848	c.2737C>T	c.(2737-2739)Ccc>Tcc	p.P913S	ALMS1_ENST00000377715.1_Missense_Mutation_p.P913S|ALMS1_ENST00000409009.1_Missense_Mutation_p.P871S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	913	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAGAGAGAAGCCCATTATTTT	0.473													ENSG00000116127																																					0													82.0	85.0	84.0					2																	73676394		1842	4082	5924	SO:0001583	missense	0			-	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2737C>T	2.37:g.73676394C>T	ENSP00000264448:p.Pro913Ser		Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.P913S	ENST00000264448.6	37	c.2737	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	C	9.933	1.215305	0.22373	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.16597	3.21;3.21;2.33	2.92	2.01	0.26516	.	0.000000	0.51477	D	0.000081	T	0.16557	0.0398	L	0.46157	1.445	0.09310	N	1	D;P;P	0.59357	0.985;0.801;0.89	P;B;B	0.48524	0.58;0.26;0.374	T	0.12319	-1.0552	10	0.18710	T	0.47	.	7.8252	0.29311	0.0:0.7414:0.2586:0.0	.	913;871;913	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	871;913;913	ENSP00000386627:P871S;ENSP00000264448:P913S;ENSP00000366944:P913S	ENSP00000264448:P913S	P	+	1	0	ALMS1	73529902	0.003000	0.15002	0.002000	0.10522	0.001000	0.01503	0.965000	0.29319	0.761000	0.33130	-0.274000	0.10170	CCC	-	ALMS1	-	NULL		0.473	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	0	0	0	28	28	73	0.00	0.00	C	NM_015120		73676394	+1	10	35	41	107	tier1	no_errors	ENST00000264448	ensembl	human	known	74_37	missense	19.61	24.65	SNP	0.002	T	10	41
CARNS1	57571	genome.wustl.edu	37	11	67191267	67191267	+	Missense_Mutation	SNP	T	T	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:67191267T>C	ENST00000307823.3	+	9	2131	c.1679T>C	c.(1678-1680)gTg>gCg	p.V560A	CARNS1_ENST00000445895.2_Missense_Mutation_p.V683A|CARNS1_ENST00000531040.1_Missense_Mutation_p.V657A|CARNS1_ENST00000524740.1_3'UTR|CARNS1_ENST00000423745.2_Missense_Mutation_p.V560A	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	560	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCAGGTGCAGTGGGTGTCCGG	0.642													ENSG00000172508																																					0													26.0	29.0	28.0					11																	67191267		2165	4262	6427	SO:0001583	missense	0			-		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.1679T>C	11.37:g.67191267T>C	ENSP00000308268:p.Val560Ala		A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.V683A	ENST00000307823.3	37	c.2048	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	T	15.71	2.912905	0.52439	.	.	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49	5.12	5.12	0.69794	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);	0.000000	0.45126	D	0.000386	D	0.97745	0.9260	L	0.45137	1.4	0.47698	D	0.999496	D;D	0.76494	0.999;0.998	D;D	0.81914	0.995;0.986	D	0.98158	1.0445	10	0.51188	T	0.08	-28.4996	13.895	0.63766	0.0:0.0:0.0:1.0	.	560;699	A5YM72;A5YM72-3	CRNS1_HUMAN;.	A	657;560;657;560;683	ENSP00000431670:V657A;ENSP00000308268:V560A;ENSP00000401519:V560A;ENSP00000389009:V683A	ENSP00000308268:V560A	V	+	2	0	CARNS1	66947843	1.000000	0.71417	0.989000	0.46669	0.643000	0.38383	4.135000	0.57997	1.942000	0.56320	0.448000	0.29417	GTG	-	CARNS1	-	pfscan_ATP-grasp		0.642	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	0	0	0	30	30	24	0.00	0.00	T	NM_020811		67191267	+1	13	8	8	21	tier1	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	61.90	27.59	SNP	1.000	C	13	8
FAM21A	387680	genome.wustl.edu	37	10	51829380	51829380	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr10:51829380G>A	ENST00000282633.5	+	3	245	c.200G>A	c.(199-201)gGa>gAa	p.G67E	FAM21A_ENST00000351071.6_Missense_Mutation_p.G67E|RP11-324H6.5_ENST00000456967.1_RNA|FAM21A_ENST00000492914.1_3'UTR|FAM21A_ENST00000314664.7_Missense_Mutation_p.G67E	NM_001005751.1	NP_001005751.1	Q641Q2	FA21A_HUMAN	family with sequence similarity 21, member A	67					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|WASH complex (GO:0071203)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	15						CAAGTGGACGGACTAATTCGG	0.378													ENSG00000099290																																					0													191.0	182.0	184.0					10																	51829380		1848	4098	5946	SO:0001583	missense	0			-	BC082258	CCDS41527.1	10q11.23	2014-06-19			ENSG00000099290	ENSG00000099290			23416	protein-coding gene	gene with protein product			"""family with sequence similarity 21, member B"""	FAM21B			Standard	XM_005269805		Approved	bA56A21.1, bA98I6.1, FLJ10824	uc001jjb.3	Q641Q2	OTTHUMG00000018225	ENST00000282633.5:c.200G>A	10.37:g.51829380G>A	ENSP00000282633:p.Gly67Glu		A2A3S2|A2A3U6|Q6DHY0	Missense_Mutation	SNP	NULL	p.G67E	ENST00000282633.5	37	c.200	CCDS41527.1	10	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747711	0.69533	.	.	ENSG00000099290	ENST00000351071;ENST00000314664;ENST00000434114;ENST00000282633	.	.	.	3.73	3.73	0.42828	.	0.046598	0.85682	D	0.000000	T	0.66386	0.2784	M	0.61703	1.905	0.80722	D	1	D;D;D	0.71674	0.986;0.987;0.998	D;D;D	0.74023	0.921;0.945;0.982	T	0.65874	-0.6062	9	0.02654	T	1	-17.5148	13.3891	0.60813	0.0:0.0:1.0:0.0	.	67;67;67	E7ESD2;Q641Q2-2;Q641Q2	.;.;FA21A_HUMAN	E	67;67;66;67	.	ENSP00000282633:G67E	G	+	2	0	FAM21A	51499386	1.000000	0.71417	0.947000	0.38551	0.840000	0.47671	9.644000	0.98468	1.792000	0.52537	0.194000	0.17425	GGA	-	FAM21A	-	NULL		0.378	FAM21A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM21A	HGNC	protein_coding	OTTHUMT00000276917.2	0	0	0	113	113	67	0.00	0.00	G	NM_001005751		51829380	+1	21	28	68	92	tier1	no_errors	ENST00000282633	ensembl	human	known	74_37	missense	23.60	23.33	SNP	1.000	A	21	68
ZNF141	7700	genome.wustl.edu	37	4	376791	376791	+	3'UTR	SNP	C	C	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr4:376791C>A	ENST00000579770.1	+	0	548				ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron			Q15928	ZN141_HUMAN	zinc finger protein 141						anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						gtttcccaaaccttgaacttc	0.383													ENSG00000131127																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000579770.1:c.*545C>A	4.37:g.376791C>A			Q6DK07	R	SNP	-	NULL	ENST00000579770.1	37	NULL		4																																																																																			-	ZNF141	-	-		0.383	ZNF141-010	KNOWN	basic	processed_transcript	ZNF141	HGNC	protein_coding	OTTHUMT00000446592.1	0	0	0	17	17	25	0.00	0.00	C	NM_003441		376791	+1	8	20	18	19	tier1	no_errors	ENST00000579770	ensembl	human	known	74_37	rna	30.77	50.00	SNP	0.089	A	8	18
PAPPA2	60676	genome.wustl.edu	37	1	176668407	176668407	+	Missense_Mutation	SNP	T	T	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:176668407T>C	ENST00000367662.3	+	8	4082	c.2918T>C	c.(2917-2919)tTc>tCc	p.F973S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	973					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTCACTTCCTTCTTCATGGAG	0.557													ENSG00000116183																																					0													174.0	173.0	173.0					1																	176668407		2059	4201	6260	SO:0001583	missense	0			-	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.2918T>C	1.37:g.176668407T>C	ENSP00000356634:p.Phe973Ser		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.F973S	ENST00000367662.3	37	c.2918	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	T	11.76	1.735093	0.30774	.	.	ENSG00000116183	ENST00000367662	T	0.01527	4.8	5.05	5.05	0.67936	Fibronectin, type III (2);	0.196875	0.41823	D	0.000808	T	0.01592	0.0051	N	0.12182	0.205	0.80722	D	1	B	0.16166	0.016	B	0.14578	0.011	T	0.63310	-0.6666	10	0.39692	T	0.17	-16.2744	14.64	0.68717	0.0:0.0:0.0:1.0	.	973	Q9BXP8	PAPP2_HUMAN	S	973	ENSP00000356634:F973S	ENSP00000356634:F973S	F	+	2	0	PAPPA2	174935030	1.000000	0.71417	1.000000	0.80357	0.548000	0.35241	4.455000	0.60075	2.105000	0.64084	0.533000	0.62120	TTC	-	PAPPA2	-	superfamily_Fibronectin_type3		0.557	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	0	0	0	36	36	34	0.00	0.00	T			176668407	+1	21	22	64	70	tier1	no_errors	ENST00000367662	ensembl	human	known	74_37	missense	24.71	23.91	SNP	1.000	C	21	64
NFASC	23114	genome.wustl.edu	37	1	204985815	204985815	+	3'UTR	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:204985815G>A	ENST00000401399.1	+	0	4070				NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000513543.1_3'UTR|NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGGACCAGTAGCCACCAAGCC	0.617													ENSG00000163531																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*148G>A	1.37:g.204985815G>A			B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	R	SNP	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	NFASC	-	-		0.617	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	HGNC	protein_coding	OTTHUMT00000131237.1	0	0	0	48	48	49	0.00	0.00	G	NM_001005388		204985815	+1	19	25	42	115	tier1	no_errors	ENST00000495396	ensembl	human	known	74_37	rna	31.15	17.86	SNP	0.031	A	19	42
ATXN3L	92552	genome.wustl.edu	37	X	13337121	13337121	+	Silent	SNP	G	G	A	rs373799323		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chrX:13337121G>A	ENST00000380622.2	-	1	1397	c.933C>T	c.(931-933)caC>caT	p.H311H	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	311					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTGGCCTTTCGTGTAGGTATG	0.448													ENSG00000123594																																					0													186.0	150.0	161.0					X																	13337121		1568	3582	5150	SO:0001819	synonymous_variant	0			-		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.933C>T	X.37:g.13337121G>A			B2RNY8	Silent	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif	p.H311	ENST00000380622.2	37	c.933	CCDS48080.1	X																																																																																			-	ATXN3L	-	prints_Josephin		0.448	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	0	0	0	148	148	69	0.00	0.00	G	NM_001135995		13337121	-1	28	45	90	83	tier1	no_errors	ENST00000380622	ensembl	human	known	74_37	silent	23.73	35.16	SNP	0.001	A	28	90
LSR	51599	genome.wustl.edu	37	19	35758744	35758744	+	Silent	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:35758744G>A	ENST00000361790.3	+	10	2091	c.1932G>A	c.(1930-1932)cgG>cgA	p.R644R	LSR_ENST00000427250.1_Silent_p.R488R|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000602122.1_Silent_p.R624R|LSR_ENST00000354900.3_Silent_p.R625R|USF2_ENST00000222305.3_5'Flank|LSR_ENST00000360798.3_Silent_p.R576R|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000347609.4_Silent_p.R586R	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	644					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCTGAGTCGGGAAAGTTTAG	0.542													ENSG00000105699																																					0													145.0	154.0	151.0					19																	35758744		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1932G>A	19.37:g.35758744G>A			A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	pfam_LISCH7,smart_Ig_sub,pfscan_Ig-like_dom	p.R644	ENST00000361790.3	37	c.1932	CCDS12450.1	19																																																																																			-	LSR	-	NULL		0.542	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LSR	HGNC	protein_coding	OTTHUMT00000465513.2	0	0	0	103	103	18	0.00	0.00	G	NM_015925		35758744	+1	13	7	53	45	tier1	no_errors	ENST00000361790	ensembl	human	known	74_37	silent	19.70	13.46	SNP	0.991	A	13	53
PPIL6	285755	genome.wustl.edu	37	6	109748056	109748056	+	Missense_Mutation	SNP	C	C	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:109748056C>G	ENST00000521072.2	-	5	1205	c.625G>C	c.(625-627)Gga>Cga	p.G209R	PPIL6_ENST00000424445.2_Missense_Mutation_p.G177R|PPIL6_ENST00000440797.2_Missense_Mutation_p.G209R|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	209	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)		peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TTACCCCCTCCTTGTATCCAG	0.338													ENSG00000185250																																					0													131.0	134.0	133.0					6																	109748056		2203	4300	6503	SO:0001583	missense	0			-		CCDS5074.1, CCDS47466.1, CCDS47466.2, CCDS69169.1	6q21	2009-11-18			ENSG00000185250	ENSG00000185250			21557	protein-coding gene	gene with protein product	"""radial spoke 12 homolog (Chlamydomonas)"""						Standard	NM_173672		Approved	bA425D10.6, MGC41939, dJ919F19.1, RSPH12	uc010kdp.3	Q8IXY8	OTTHUMG00000036593	ENST00000521072.2:c.625G>C	6.37:g.109748056C>G	ENSP00000427929:p.Gly209Arg		A9NIU0|A9NIU9|E7EX15	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G209R	ENST00000521072.2	37	c.625	CCDS5074.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257599|4.257599	0.80246|0.80246	.|.	.|.	ENSG00000185250|ENSG00000185250	ENST00000424445;ENST00000440797;ENST00000521072;ENST00000417394|ENST00000520723;ENST00000518648	T;T;T;T|.	0.30182|.	1.54;1.54;1.54;1.54|.	4.83|4.83	4.83|4.83	0.62350|0.62350	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);|.	0.059360|.	0.64402|.	D|.	0.000003|.	D|D	0.86560|0.86560	0.5962|0.5962	H|H	0.96833|0.96833	3.89|3.89	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.91209|0.91209	0.4997|0.4997	10|5	0.87932|.	D|.	0|.	-18.3396|-18.3396	17.0726|17.0726	0.86578|0.86578	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	209;177;209|.	A9NIU9;E7EX15;Q8IXY8|.	.;.;PPIL6_HUMAN|.	R|T	177;209;209;166|148;121	ENSP00000407731:G177R;ENSP00000392257:G209R;ENSP00000427929:G209R;ENSP00000411731:G166R|.	ENSP00000411731:G166R|.	G|R	-|-	1|2	0|0	PPIL6|PPIL6	109854749|109854749	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.766000|0.766000	0.43426|0.43426	6.738000|6.738000	0.74822|0.74822	2.356000|2.356000	0.79943|0.79943	0.655000|0.655000	0.94253|0.94253	GGA|AGG	-	PPIL6	-	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom		0.338	PPIL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL6	HGNC	protein_coding	OTTHUMT00000089003.4	0	0	0	43	43	62	0.00	0.00	C			109748056	-1	16	42	32	76	tier1	no_errors	ENST00000521072	ensembl	human	known	74_37	missense	33.33	35.29	SNP	1.000	G	16	32
HYDIN	54768	genome.wustl.edu	37	16	71113818	71113818	+	Missense_Mutation	SNP	G	G	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr16:71113818G>T	ENST00000393567.2	-	13	1858	c.1708C>A	c.(1708-1710)Cca>Aca	p.P570T	HYDIN_ENST00000321489.5_Missense_Mutation_p.P570T|HYDIN_ENST00000448089.2_Missense_Mutation_p.P570T|HYDIN_ENST00000448691.1_Missense_Mutation_p.P570T|HYDIN_ENST00000538248.1_Missense_Mutation_p.P597T|HYDIN_ENST00000393550.2_Missense_Mutation_p.P570T|HYDIN_ENST00000541601.1_Missense_Mutation_p.P587T|HYDIN_ENST00000288168.10_Missense_Mutation_p.P587T|HYDIN_ENST00000543639.1_5'UTR|RP11-23E19.1_ENST00000568931.1_RNA|RP11-23E19.1_ENST00000563968.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	570					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCAGAGCTGGAACATTAAAA	0.428													ENSG00000157423																																					0													35.0	33.0	34.0					16																	71113818		2196	4297	6493	SO:0001583	missense	0			-	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.1708C>A	16.37:g.71113818G>T	ENSP00000377197:p.Pro570Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.P570T	ENST00000393567.2	37	c.1708	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350184	0.41599	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.14391	5.57;3.71;3.72;3.72;3.7;3.68;3.34;2.51	4.73	4.73	0.59995	.	0.000000	0.33023	U	0.005372	T	0.34716	0.0907	M	0.69248	2.105	0.45161	D	0.998176	P;P;B;P;D	0.89917	0.754;0.754;0.34;0.754;1.0	P;P;B;B;D	0.87578	0.493;0.493;0.17;0.425;0.998	T	0.05582	-1.0876	10	0.19147	T	0.46	.	17.7056	0.88308	0.0:0.0:1.0:0.0	.	597;587;587;570;570	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	T	570;570;570;570;570;597;587;587;570	ENSP00000377197:P570T;ENSP00000398544:P570T;ENSP00000394826:P570T;ENSP00000314736:P570T;ENSP00000444970:P597T;ENSP00000437341:P587T;ENSP00000288168:P587T;ENSP00000377181:P570T	ENSP00000288168:P587T	P	-	1	0	HYDIN	69671319	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.090000	0.64498	2.362000	0.80069	0.499000	0.49734	CCA	-	HYDIN	-	NULL		0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	0	0	0	28	28	52	0.00	0.00	G			71113818	-1	7	40	9	60	tier1	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	43.75	40.00	SNP	1.000	T	7	9
XYLT2	64132	genome.wustl.edu	37	17	48434025	48434025	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr17:48434025G>A	ENST00000017003.2	+	8	1685	c.1636G>A	c.(1636-1638)Ggc>Agc	p.G546S	XYLT2_ENST00000507602.1_Missense_Mutation_p.G546S	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	546					chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CGCGGCTGATGGCCCCAGTGG	0.647													ENSG00000015532																																					0													70.0	77.0	74.0					17																	48434025		2203	4300	6503	SO:0001583	missense	0			-	AJ277442	CCDS11563.1	17q21.33	2013-02-25			ENSG00000015532	ENSG00000015532	2.4.2.26		15517	protein-coding gene	gene with protein product	"""protein xylosyltransferase 2"""	608125				11099377	Standard	NM_022167		Approved	XT-II, PXYLT2	uc002iqo.3	Q9H1B5	OTTHUMG00000162057	ENST00000017003.2:c.1636G>A	17.37:g.48434025G>A	ENSP00000017003:p.Gly546Ser		Q6UY41|Q86V00	Missense_Mutation	SNP	pfam_XylT,pfam_Glyco_trans_14	p.G546S	ENST00000017003.2	37	c.1636	CCDS11563.1	17	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569955	0.65765	.	.	ENSG00000015532	ENST00000017003;ENST00000507602	T;T	0.44482	0.92;0.92	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.63885	0.2549	M	0.73962	2.25	0.80722	D	1	D	0.63880	0.993	D	0.69307	0.963	T	0.61282	-0.7094	10	0.30854	T	0.27	-30.4619	18.2647	0.90049	0.0:0.0:1.0:0.0	.	546	Q9H1B5	XYLT2_HUMAN	S	546	ENSP00000017003:G546S;ENSP00000426501:G546S	ENSP00000017003:G546S	G	+	1	0	XYLT2	45789024	1.000000	0.71417	0.981000	0.43875	0.457000	0.32468	4.675000	0.61619	2.549000	0.85964	0.563000	0.77884	GGC	-	XYLT2	-	pfam_XylT		0.647	XYLT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLT2	HGNC	protein_coding	OTTHUMT00000367046.1	0	0	0	27	27	17	0.00	0.00	G	NM_022167		48434025	+1	7	14	16	11	tier1	no_errors	ENST00000017003	ensembl	human	known	74_37	missense	30.43	56.00	SNP	1.000	A	7	16
DUSP27	92235	genome.wustl.edu	37	1	167097466	167097466	+	Missense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:167097466G>A	ENST00000361200.2	+	6	3264	c.3098G>A	c.(3097-3099)cGa>cAa	p.R1033Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.R1033Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R1033Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1033	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R1033Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAAGTTCCCGAGAGGAGAGC	0.577													ENSG00000198842																																					1	Substitution - Missense(1)	skin(1)											38.0	42.0	41.0					1																	167097466		2203	4300	6503	SO:0001583	missense	0			-	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.3098G>A	1.37:g.167097466G>A	ENSP00000354483:p.Arg1033Gln		A0AUM4|Q9C074	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,prints_Atypical_DUSP_famA	p.R1033Q	ENST00000361200.2	37	c.3098	CCDS30932.1	1	.	.	.	.	.	.	.	.	.	.	G	17.84	3.487174	0.63962	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.05319	3.46;3.46;3.46	5.42	4.51	0.55191	.	0.000000	0.41396	D	0.000886	T	0.03915	0.0110	M	0.65975	2.015	0.28042	N	0.933729	B	0.28470	0.213	B	0.22601	0.04	T	0.14699	-1.0463	10	0.72032	D	0.01	-4.0827	14.342	0.66633	0.0717:0.0:0.9283:0.0	.	1033	Q5VZP5	DUS27_HUMAN	Q	1033	ENSP00000354483:R1033Q;ENSP00000271385:R1033Q;ENSP00000404874:R1033Q	ENSP00000271385:R1033Q	R	+	2	0	DUSP27	165364090	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	4.473000	0.60196	1.277000	0.44412	0.643000	0.83706	CGA	-	DUSP27	-	NULL		0.577	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP27	HGNC	protein_coding	OTTHUMT00000083244.1	0	0	1	30	30	56	0.00	1.75	G	NM_001080426		167097466	+1	8	36	30	143	tier1	no_errors	ENST00000271385	ensembl	human	known	74_37	missense	21.05	20.11	SNP	0.989	A	8	30
DST	667	genome.wustl.edu	37	6	56472778	56472778	+	Silent	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:56472778C>T	ENST00000361203.3	-	36	6022	c.6015G>A	c.(6013-6015)ggG>ggA	p.G2005G	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Silent_p.G2183G|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Silent_p.G1679G|DST_ENST00000312431.6_Silent_p.G2005G|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Silent_p.G2005G			Q03001	DYST_HUMAN	dystonin	2005					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAAGCCTTTGCCCTGTGTTTG	0.388													ENSG00000151914																																					0													48.0	46.0	47.0					6																	56472778		1895	4114	6009	SO:0001819	synonymous_variant	0			-	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.6015G>A	6.37:g.56472778C>T			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.G2183	ENST00000361203.3	37	c.6549		6																																																																																			-	DST	-	superfamily_ABC1_TM_dom		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	0	0	0	47	47	51	0.00	0.00	C	NM_001723		56472778	-1	19	36	14	21	tier1	no_errors	ENST00000370754	ensembl	human	known	74_37	silent	57.58	63.16	SNP	0.237	T	19	14
TTN	7273	genome.wustl.edu	37	2	179469727	179469727	+	Missense_Mutation	SNP	G	G	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:179469727G>T	ENST00000591111.1	-	230	49478	c.49254C>A	c.(49252-49254)caC>caA	p.H16418Q	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8994Q|TTN_ENST00000342175.6_Missense_Mutation_p.H9186Q|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H9119Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H18059Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H15491Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16418	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTCAACGTGAACATTTC	0.428													ENSG00000155657																																					0													252.0	235.0	241.0					2																	179469727		1946	4134	6080	SO:0001583	missense	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49254C>A	2.37:g.179469727G>T	ENSP00000465570:p.His16418Gln		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.H15491Q	ENST00000591111.1	37	c.46473		2	.	.	.	.	.	.	.	.	.	.	G	7.890	0.732062	0.15507	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.95	-7.85	0.01192	Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.39545	0.1082	N	0.05124	-0.11	0.19575	N	0.999969	B;B;B;B	0.26512	0.151;0.151;0.151;0.151	B;B;B;B	0.22601	0.04;0.04;0.04;0.04	T	0.23762	-1.0179	9	0.87932	D	0	.	18.129	0.89595	0.6698:0.0:0.3302:0.0	.	8994;9119;9186;16418	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	15491;8994;9186;9119;8994	ENSP00000343764:H15491Q;ENSP00000434586:H8994Q;ENSP00000340554:H9186Q;ENSP00000352154:H9119Q	ENSP00000340554:H9186Q	H	-	3	2	TTN	179177972	0.082000	0.21442	0.557000	0.28306	0.848000	0.48234	-0.353000	0.07691	-1.659000	0.01488	-0.244000	0.11960	CAC	-	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	54	54	66	0.00	0.00	G	NM_133378		179469727	-1	12	64	32	115	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	27.27	35.75	SNP	0.044	T	12	32
ATM	472	genome.wustl.edu	37	11	108199905	108199905	+	Missense_Mutation	SNP	T	T	C			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:108199905T>C	ENST00000452508.2	+	50	7436	c.7247T>C	c.(7246-7248)cTc>cCc	p.L2416P	ATM_ENST00000278616.4_Missense_Mutation_p.L2416P|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2416	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AAGCAAGCTCTCCTGAAAAGA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			ENSG00000149311																											yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													75.0	73.0	74.0					11																	108199905		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	-	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.7247T>C	11.37:g.108199905T>C	ENSP00000388058:p.Leu2416Pro		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2416P	ENST00000452508.2	37	c.7247	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	25.4	4.636433	0.87760	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.70869	-0.52;-0.52	5.54	5.54	0.83059	PIK-related kinase (1);PIK-related kinase, FAT (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86321	0.1692	10	0.72032	D	0.01	.	15.6843	0.77396	0.0:0.0:0.0:1.0	.	2416	Q13315	ATM_HUMAN	P	2416	ENSP00000278616:L2416P;ENSP00000388058:L2416P	ENSP00000278616:L2416P	L	+	2	0	ATM	107705115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	2.107000	0.64212	0.528000	0.53228	CTC	-	ATM	-	pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	0	0	0	36	36	58	0.00	0.00	T	NM_000051		108199905	+1	23	44	17	40	tier1	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	57.50	52.38	SNP	1.000	C	23	17
AMACR	23600	genome.wustl.edu	37	5	34005864	34005864	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:34005864A>G	ENST00000335606.6	-	2	476	c.388T>C	c.(388-390)Tca>Cca	p.S130P	AMACR_ENST00000382085.3_Missense_Mutation_p.S130P|AMACR_ENST00000426255.2_Missense_Mutation_p.S130P|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000441713.2_Missense_Mutation_p.S130P|AMACR_ENST00000382068.3_Missense_Mutation_p.S130P|AMACR_ENST00000512079.1_Missense_Mutation_p.S130P|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.V277A|AMACR_ENST00000502637.1_Missense_Mutation_p.S130P|AMACR_ENST00000382072.2_Missense_Mutation_p.S130P	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	130					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						AACATACCTGACAAAGCCAAA	0.363													ENSG00000242110																																					0													45.0	47.0	46.0					5																	34005864		2203	4300	6503	SO:0001583	missense	0			-	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.388T>C	5.37:g.34005864A>G	ENSP00000334424:p.Ser130Pro		A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom	p.S130P	ENST00000335606.6	37	c.388	CCDS3902.1	5	.	.	.	.	.	.	.	.	.	.	A	27.1	4.800455	0.90538	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04	5.46	5.46	0.80206	CoA-transferase family III domain (2);	0.000000	0.85682	D	0.000000	D	0.87358	0.6157	H	0.98426	4.23	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.996;0.998;0.999;0.996;0.999	D	0.92302	0.5850	10	0.87932	D	0	.	15.82	0.78633	1.0:0.0:0.0:0.0	.	130;130;130;130;130;130	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	P	130	ENSP00000334424:S130P;ENSP00000371504:S130P;ENSP00000371517:S130P;ENSP00000424351:S130P;ENSP00000403800:S130P	ENSP00000334424:S130P	S	-	1	0	AMACR	34041621	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.687000	0.91255	2.209000	0.71365	0.533000	0.62120	TCA	-	AMACR	-	pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom		0.363	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMACR	HGNC	protein_coding	OTTHUMT00000207467.1	0	0	0	17	17	51	0.00	0.00	A	NM_014324		34005864	-1	5	36	23	67	tier1	no_errors	ENST00000335606	ensembl	human	known	74_37	missense	17.24	34.62	SNP	1.000	G	5	23
PDE3A	5139	genome.wustl.edu	37	12	20799442	20799444	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CCA	CCA	CCA	-	CCA	CCA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:20799442_20799444delCCA	ENST00000359062.3	+	11	2310_2312	c.2270_2272delCCA	c.(2269-2274)gccact>gct	p.T758del	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	758	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAATCCATGCCACTGATGTTTT	0.414													ENSG00000172572																																					0																																										SO:0001651	inframe_deletion	0					CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2270_2272delCCA	12.37:g.20799442_20799444delCCA	ENSP00000351957:p.Thr758del		O60865|Q13348|Q17RD1	In_Frame_Del	DEL	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.T758in_frame_del	ENST00000359062.3	37	c.2270_2272	CCDS31754.1	12																																																																																				PDE3A	-	smart_HD/PDEase_dom		0.414	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	0	0	0	48	48	60	0.00	0.00	CCA			20799444	+1	11	33	33	69	tier1	no_errors	ENST00000359062	ensembl	human	known	74_37	in_frame_del	25.00	32.35	DEL	1.000:1.000:1.000	-	11	33
FAR2P1	440905	genome.wustl.edu	37	2	130792230	130792230	+	RNA	DEL	A	A	-			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:130792230delA	ENST00000325390.3	-	0	2743					NR_026758.1																						GAGTTCACATAAAAAAATTTA	0.383													ENSG00000180178																																					0																																												0																																2.37:g.130792230delA				R	DEL	-	NULL	ENST00000325390.3	37	NULL		2																																																																																				AC018865.8	-	-		0.383	AC018865.8-002	KNOWN	basic	processed_transcript	LOC440905	Clone_based_vega_gene	pseudogene	OTTHUMT00000331630.3	0	0	0	23	23	53	0.00	0.00	A			130792230	-1	7	45	17	67	tier1	no_errors	ENST00000444030	ensembl	human	known	74_37	rna	29.17	40.18	DEL	0.000	-	7	17
PCDH9	5101	genome.wustl.edu	37	13	67800272	67800282	+	Frame_Shift_Del	DEL	AAGCGTGTGCA	AAGCGTGTGCA	-	rs142526541		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	AAGCGTGTGCA	AAGCGTGTGCA	AAGCGTGTGCA	-	AAGCGTGTGCA	AAGCGTGTGCA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr13:67800272_67800282delAAGCGTGTGCA	ENST00000377865.2	-	1	2425_2435	c.2291_2301delTGCACACGCTT	c.(2290-2301)ttgcacacgcttfs	p.LHTL764fs	PCDH9_ENST00000377861.3_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000328454.5_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.LHTL764fs|PCDH9_ENST00000544246.1_Frame_Shift_Del_p.LHTL764fs			Q9HC56	PCDH9_HUMAN	protocadherin 9	764	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ATACAAGCACAAGCGTGTGCAAAGACTTAGG	0.46													ENSG00000184226																																					0																																										SO:0001589	frameshift_variant	0				AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2291_2301delTGCACACGCTT	13.37:g.67800272_67800282delAAGCGTGTGCA	ENSP00000367096:p.Leu764fs		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L764fs	ENST00000377865.2	37	c.2301_2291	CCDS9444.1	13																																																																																				PCDH9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.460	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	0	0	0	56	56	56	0.00	0.00	AAGCGTGTGCA	NM_203487		67800282	-1	7	7	24	24	tier1	no_errors	ENST00000377865	ensembl	human	known	74_37	frame_shift_del	22.58	22.58	DEL	0.015:0.996:0.997:0.267:0.988:1.000:1.000:1.000:1.000:1.000:1.000	-	7	24
DCAF17	80067	genome.wustl.edu	37	2	172325408	172325409	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:172325408_172325409insT	ENST00000375255.3	+	9	1176_1177	c.849_850insT	c.(850-852)ctgfs	p.L284fs	DCAF17_ENST00000539783.1_Frame_Shift_Ins_p.L284fs|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	284					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACATGCCACCACTGCTCTTTGA	0.441													ENSG00000115827																																					0																																										SO:0001589	frameshift_variant	0				AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	Exception_encountered	2.37:g.172325408_172325409insT	ENSP00000364404:p.Leu284fs		B2RTW5|Q53TN3|Q9H908	Frame_Shift_Ins	INS	NULL	p.L283fs	ENST00000375255.3	37	c.849_850	CCDS2243.2	2																																																																																				DCAF17	-	NULL		0.441	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	0	0	0	63	63	57	0.00	0.00	-	NM_025000		172325409	+1	12	9	42	73	tier1	no_errors	ENST00000375255	ensembl	human	known	74_37	frame_shift_ins	22.22	10.98	INS	0.959:0.976	T	12	42
SLC6A7	6534	genome.wustl.edu	37	5	149583220	149583236	+	Splice_Site	DEL	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG	-	rs377126179		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG	-	CCTGGCCCAGGCCCTGG	CCTGGCCCAGGCCCTGG	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr5:149583220_149583236delCCTGGCCCAGGCCCTGG	ENST00000230671.2	+	9	1458_1465	c.1087_1094delCCTGGCCCAGGCCCTGG	c.(1087-1095)cctggccca>a	p.PGP363fs	SLC6A7_ENST00000524041.1_Splice_Site_p.PGP363fs	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	363					proline transport (GO:0015824)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCCGTGTGCCCCTGGCCCAGGCCCTGGCCTGGCCTTT	0.576													ENSG00000011083																																					0																																										SO:0001630	splice_region_variant	0				S80071	CCDS4305.1	5q32	2013-07-19	2013-07-19		ENSG00000011083	ENSG00000011083		"""Solute carriers"""	11054	protein-coding gene	gene with protein product	"""brain-specific L-proline transporter"", ""sodium-dependent proline transporter"""	606205	"""solute carrier family 6 (neurotransmitter transporter, L-proline), member 7"""			7651355	Standard	NM_014228		Approved	PROT	uc003lrr.3	Q99884	OTTHUMG00000130046	ENST00000230671.2:c.1088-1CCTGGCCCAGGCCCTGG>-	5.37:g.149583220_149583236delCCTGGCCCAGGCCCTGG			Q0VG81|Q52LU6	Frame_Shift_Del	DEL	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.A366fs	ENST00000230671.2	37	c.1098_1094	CCDS4305.1	5																																																																																				SLC6A7	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.576	SLC6A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A7	HGNC	protein_coding	OTTHUMT00000252325.1	0	0	0	20	20	20	0.00	0.00	CCTGGCCCAGGCCCTGG	NM_014228	Frame_Shift_Del	149583236	+1	3	3	26	26	tier1	no_errors	ENST00000230671	ensembl	human	known	74_37	frame_shift_del	10.34	10.34	DEL	0.234:0.112:0.122:0.447:0.481:0.986:0.995:0.993:1.000:1.000:1.000:1.000:1.000:1.000:0.155:1.000:1.000	-	3	26
VWF	7450	genome.wustl.edu	37	12	6143854	6143858	+	Splice_Site	DEL	CTGCA	CTGCA	-			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CTGCA	CTGCA	CTGCA	-	CTGCA	CTGCA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:6143854_6143858delCTGCA	ENST00000261405.5	-	20	2935_2939	c.2681_2685delTGCAG	c.(2680-2685)gtgcag>g	p.VQ894fs		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	894	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CACCTCTCACCTGCACCAGAACGTA	0.585													ENSG00000110799																																					0																																										SO:0001630	splice_region_variant	0					CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2685+1TGCAG>-	12.37:g.6143854_6143858delCTGCA			Q8TCE8|Q99806	Frame_Shift_Del	DEL	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.V894fs	ENST00000261405.5	37	c.2685_2681	CCDS8539.1	12																																																																																				VWF	-	pirsf_VWF,pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D		0.585	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	0	0	0	111	111	111	0.00	0.00	CTGCA	NM_000552	Frame_Shift_Del	6143858	-1	17	17	108	108	tier1	no_errors	ENST00000261405	ensembl	human	known	74_37	frame_shift_del	13.60	13.60	DEL	1.000:1.000:1.000:0.796:0.801	-	17	108
VWF	7450	genome.wustl.edu	37	12	6143852	6143852	+	Splice_Site	DEL	A	A	-	rs61748487		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A	A	-	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr12:6143852delA	ENST00000261405.5	-	20	2940		c.e20+1			NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor						blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCACCTCTCACCTGCACCAG	0.587													ENSG00000110799																																					0			GRCh37	CS070406	VWF	S	rs61748487						147.0	121.0	130.0					12																	6143852		2203	4300	6503	SO:0001630	splice_region_variant	0					CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2685+1T>-	12.37:g.6143852delA			Q8TCE8|Q99806	Splice_Site	DEL	-	e19+2	ENST00000261405.5	37	c.2685+2	CCDS8539.1	12																																																																																				VWF	-	-		0.587	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	0	0	0	104	104	110	0.00	0.00	A	NM_000552	Intron	6143852	-1	20	17	77	107	tier1	no_errors	ENST00000261405	ensembl	human	known	74_37	splice_site_del	20.62	13.71	DEL	1.000	-	20	77
CATSPERD	257062	genome.wustl.edu	37	19	5745969	5745979	+	Frame_Shift_Del	DEL	CTGTCTTTTGA	CTGTCTTTTGA	-	rs200681020		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	CTGTCTTTTGA	CTGTCTTTTGA	CTGTCTTTTGA	-	CTGTCTTTTGA	CTGTCTTTTGA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:5745969_5745979delCTGTCTTTTGA	ENST00000381624.3	+	9	764_774	c.703_713delCTGTCTTTTGA	c.(703-714)ctgtcttttgacfs	p.LSFD235fs	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	235					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											GAGTTTCGGGCTGTCTTTTGACTATAATGGG	0.526													ENSG00000174898																																					0																																										SO:0001589	frameshift_variant	0				BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.703_713delCTGTCTTTTGA	19.37:g.5745969_5745979delCTGTCTTTTGA	ENSP00000371037:p.Leu235fs		Q6ZRP1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom	p.S236fs	ENST00000381624.3	37	c.703_713	CCDS12149.2	19																																																																																				CATSPERD	-	superfamily_WD40_repeat_dom		0.526	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	CATSPERD	HGNC	protein_coding	OTTHUMT00000286953.2	0	0	0	57	57	57	0.00	0.00	CTGTCTTTTGA	NM_152784		5745979	+1	11	11	59	59	tier1	no_errors	ENST00000381624	ensembl	human	known	74_37	frame_shift_del	15.71	15.71	DEL	0.018:0.019:0.007:0.005:0.038:0.040:0.055:0.053:0.027:0.013:0.011	-	11	59
COL6A3	1293	genome.wustl.edu	37	2	238232753	238232754	+	3'UTR	INS	-	-	C	rs184900191	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr2:238232753_238232754insC	ENST00000295550.4	-	0	10649_10650				COL6A3_ENST00000473258.1_5'UTR|COL6A3_ENST00000353578.4_3'UTR|COL6A3_ENST00000472056.1_3'UTR|COL6A3_ENST00000347401.3_3'UTR	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAGCACACACAAAAAAAAAACA	0.292													ENSG00000163359																																					0																																										SO:0001624	3_prime_UTR_variant	0				X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.*664->G	2.37:g.238232753_238232754insC			A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	R	INS	-	NULL	ENST00000295550.4	37	NULL	CCDS33412.1	2																																																																																				COL6A3	-	-		0.292	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	0	0	0	72	72	21	0.00	0.00	-	NM_004369		238232754	-1	23	24	32	19	tier1	no_errors	ENST00000473258	ensembl	human	known	74_37	rna	41.82	55.81	INS	0.025:0.031	C	23	32
ZNF230	7773	genome.wustl.edu	37	19	44514834	44514835	+	Frame_Shift_Ins	INS	-	-	C	rs202000510		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:44514834_44514835insC	ENST00000429154.2	+	5	871_872	c.643_644insC	c.(643-645)gagfs	p.E215fs		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCAAACTCGTGAGAGAGTCCAC	0.446													ENSG00000159882																									GBM(175;914 2069 22996 47111 52600)												0																																										SO:0001589	frameshift_variant	0				U95044	CCDS33044.1	19q13.31	2013-01-08				ENSG00000159882		"""Zinc fingers, C2H2-type"", ""-"""	13024	protein-coding gene	gene with protein product							Standard	NM_006300		Approved	FDZF2	uc002oyb.1	Q9UIE0		Exception_encountered	19.37:g.44514834_44514835insC	ENSP00000409318:p.Glu215fs		O15322|Q504X7|Q86W84|Q9P1U6	Frame_Shift_Ins	INS	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.E215fs	ENST00000429154.2	37	c.643_644	CCDS33044.1	19																																																																																				ZNF230	-	pfscan_Znf_C2H2		0.446	ZNF230-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF230	HGNC	protein_coding	OTTHUMT00000460456.1	0	0	0	136	136	8	0.00	0.00	-			44514835	+1	38	8	63	8	tier1	no_errors	ENST00000429154	ensembl	human	known	74_37	frame_shift_ins	37.62	50.00	INS	0.009:0.003	C	38	63
TNR	7143	genome.wustl.edu	37	1	175325480	175325480	+	Silent	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr1:175325480G>A	ENST00000367674.2	-	16	3801	c.3093C>T	c.(3091-3093)ggC>ggT	p.G1031G	TNR_ENST00000263525.2_Silent_p.G1031G			Q92752	TENR_HUMAN	tenascin R	1031	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGCTGATGGTGCCACTGGTGA	0.498													ENSG00000116147																																					0													257.0	220.0	233.0					1																	175325480		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3093C>T	1.37:g.175325480G>A			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.G1031	ENST00000367674.2	37	c.3093	CCDS1318.1	1																																																																																			-	TNR	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.498	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	0	0	0	81	81	90	0.00	0.00	G	NM_003285		175325480	-1	11	16	120	235	tier1	no_errors	ENST00000263525	ensembl	human	known	74_37	silent	8.40	6.37	SNP	1.000	A	11	120
MMP16	4325	genome.wustl.edu	37	8	89128891	89128891	+	Missense_Mutation	SNP	G	G	A	rs202054317		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr8:89128891G>A	ENST00000286614.6	-	6	1209	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	310					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGAATAGAGCGGTGTGGGGGC	0.537													ENSG00000156103	G|||	1	0.000199681	0.0	0.0	5008	,	,		15194	0.001		0.0	False		,,,				2504	0.0																0													200.0	206.0	204.0					8																	89128891		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.928C>T	8.37:g.89128891G>A	ENSP00000286614:p.Arg310Cys		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.R310C	ENST00000286614.6	37	c.928	CCDS6246.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.4	4.286878	0.80803	.	.	ENSG00000156103	ENST00000286614	T	0.17528	2.27	5.79	5.79	0.91817	.	0.100830	0.64402	D	0.000003	T	0.47248	0.1435	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.95	T	0.42327	-0.9458	10	0.72032	D	0.01	.	20.0498	0.97621	0.0:0.0:1.0:0.0	.	310;310	P51512-2;P51512	.;MMP16_HUMAN	C	310	ENSP00000286614:R310C	ENSP00000286614:R310C	R	-	1	0	MMP16	89198007	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.724000	0.74747	2.753000	0.94483	0.557000	0.71058	CGC	rs202054317	MMP16	-	pirsf_Pept_M10A_Metazoans		0.537	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	0	0	1	99	99	44	0.00	2.22	G	NM_005941		89128891	-1	31	28	65	50	tier1	no_errors	ENST00000286614	ensembl	human	known	74_37	missense	32.29	35.44	SNP	1.000	A	31	65
SAA3P	6290	genome.wustl.edu	37	11	18134251	18134251	+	RNA	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr11:18134251C>T	ENST00000534768.1	-	0	409					NR_026576.1				serum amyloid A3 pseudogene											lung(2)	2						GGCCAGCCAGCGAATCCTCTG	0.542													ENSG00000166787																																					0																																												0			-	S73444		11p15.1	2014-06-05			ENSG00000166787	ENSG00000166787			10515	pseudogene	pseudogene				SAA3		8325654, 2558975	Standard	NR_026576		Approved		uc001mnt.3		OTTHUMG00000166433		11.37:g.18134251C>T				R	SNP	-	NULL	ENST00000534768.1	37	NULL		11																																																																																			-	SAA3P	-	-		0.542	SAA3P-002	KNOWN	basic	processed_transcript	SAA3P	HGNC	pseudogene	OTTHUMT00000389765.1	0	0	1	66	66	39	0.00	2.50	C			18134251	-1	20	44	32	33	tier1	no_errors	ENST00000534768	ensembl	human	known	74_37	rna	38.46	57.14	SNP	0.000	T	20	32
OR12D2	26529	genome.wustl.edu	37	6	29365079	29365079	+	Silent	SNP	G	G	T	rs201460005	byFrequency	TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr6:29365079G>T	ENST00000383555.2	+	1	664	c.603G>T	c.(601-603)acG>acT	p.T201T	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTACTGTCACGGGGACAATTG	0.448													ENSG00000168787																																					0													156.0	160.0	158.0					6																	29365079		1511	2709	4220	SO:0001819	synonymous_variant	0			-		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.603G>T	6.37:g.29365079G>T			B0S862|Q5SUN9|Q6IET9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T201	ENST00000383555.2	37	c.603	CCDS4659.1	6																																																																																			-	OR12D2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR12D2	HGNC	protein_coding	OTTHUMT00000076054.2	0	0	0	57	57	55	0.00	0.00	G			29365079	+1	22	41	14	25	tier1	no_errors	ENST00000383555	ensembl	human	known	74_37	silent	61.11	62.12	SNP	0.000	T	22	14
PCMTD1	115294	genome.wustl.edu	37	8	52732893	52732894	+	3'UTR	INS	-	-	C	rs138060787		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr8:52732893_52732894insC	ENST00000360540.5	-	0	1497_1498				PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_3'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAGTAGGCATTTTTCTTCTTGA	0.302													ENSG00000168300																																					0																																										SO:0001624	3_prime_UTR_variant	0					CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.*18->G	8.37:g.52732893_52732894insC			Q96FK9	R	INS	-	NULL	ENST00000360540.5	37	NULL	CCDS6148.1	8																																																																																				PCMTD1	-	-		0.302	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCMTD1	HGNC	protein_coding	OTTHUMT00000377909.2	0	0	0	52	52	12	0.00	0.00	-	NM_052937		52732894	-1	8	0	65	5	tier1	no_errors	ENST00000519559	ensembl	human	known	74_37	rna	10.96	0.00	INS	0.206:0.021	C	8	65
SLC19A1	6573	genome.wustl.edu	37	21	46951894	46951894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr21:46951894G>A	ENST00000311124.4	-	3	510	c.358C>T	c.(358-360)Cag>Tag	p.Q120*	SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.Q120*|SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.Q120*|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.Q80*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	120					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	TCCATGAGCTGCATGTGCGCC	0.657													ENSG00000173638																																					0													24.0	26.0	25.0					21																	46951894		2198	4300	6498	SO:0001587	stop_gained	0			-	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.358C>T	21.37:g.46951894G>A	ENSP00000308895:p.Gln120*		B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Nonsense_Mutation	SNP	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.Q120*	ENST00000311124.4	37	c.358	CCDS13725.1	21	.	.	.	.	.	.	.	.	.	.	G	34	5.301444	0.95601	.	.	ENSG00000173638	ENST00000311124;ENST00000380010;ENST00000485649;ENST00000427839;ENST00000443742	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-34.8439	17.1012	0.86651	0.0:0.0:1.0:0.0	.	.	.	.	X	120;120;80;120;120	.	ENSP00000308895:Q120X	Q	-	1	0	SLC19A1	45776322	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	9.327000	0.96396	2.460000	0.83146	0.462000	0.41574	CAG	-	SLC19A1	-	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.657	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	HGNC	protein_coding	OTTHUMT00000206796.1	0	0	0	30	30	10	0.00	0.00	G			46951894	-1	4	0	14	9	tier1	no_errors	ENST00000311124	ensembl	human	known	74_37	nonsense	22.22	0.00	SNP	1.000	A	4	14
GOLGA6D	653643	genome.wustl.edu	37	15	75585465	75585465	+	Missense_Mutation	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr15:75585465C>T	ENST00000434739.3	+	14	1594	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	518						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CCTCGGCCCACGCCAAACATC	0.637													ENSG00000140478																																					0													1.0	1.0	1.0					15																	75585465		23	275	298	SO:0001583	missense	0			-		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1553C>T	15.37:g.75585465C>T	ENSP00000391085:p.Thr518Met			Missense_Mutation	SNP	NULL	p.T518M	ENST00000434739.3	37	c.1553	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	C	0	-2.782293	0.00079	.	.	ENSG00000140478	ENST00000434739	T	0.22134	1.97	1.56	-3.02	0.05446	.	.	.	.	.	T	0.02807	0.0084	N	0.00058	-2.35	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.37009	-0.9724	9	0.35671	T	0.21	.	1.0073	0.01489	0.2392:0.3993:0.1651:0.1964	.	518	P0CG33	GOG6D_HUMAN	M	518	ENSP00000391085:T518M	ENSP00000391085:T518M	T	+	2	0	GOLGA6D	73372518	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.245000	0.18142	-0.846000	0.04174	-1.169000	0.01745	ACG	-	GOLGA6D	-	NULL		0.637	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	HGNC	protein_coding	OTTHUMT00000419798.1	0	0	0	100	100	1	0.00	0.00	C	NM_001145224		75585465	+1	13	0	63	0	tier1	no_errors	ENST00000434739	ensembl	human	known	74_37	missense	17.11	0.00	SNP	0.000	T	13	63
MIR3689A	100500846	genome.wustl.edu	37	9	137742041	137742041	+	RNA	SNP	G	G	A	rs374642642		TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr9:137742041G>A	ENST00000578854.1	-	0	0				MIR3689B_ENST00000581772.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.2_ENST00000581079.1_RNA|MIR3689E_ENST00000582479.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689F_ENST00000579617.1_RNA|MIR3689D2_ENST00000580187.1_RNA|MIR3689D1_ENST00000579706.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689C_ENST00000581239.1_RNA	NR_037460.1				microRNA 3689a																		CAGGAAGCACGGGATCACACC	0.597													ENSG00000264163																																					0																																												0			-			9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137742041G>A				R	SNP	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			rs35679521	MIR3689B	-	-		0.597	MIR3689A-201	KNOWN	basic	miRNA	MIR3689B	HGNC	miRNA		0	0	0	69	69	0	0.00	0.00	G	NR_037460		137742041	-1	9	0	61	2	tier1	no_errors	ENST00000581772	ensembl	human	known	74_37	rna	12.68	0.00	SNP	0.000	A	9	61
SSTR5-AS1	146336	genome.wustl.edu	37	16	1116295	1116295	+	RNA	SNP	C	C	T			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr16:1116295C>T	ENST00000569832.1	-	0	661				RP11-161M6.5_ENST00000564390.1_lincRNA	NR_027242.1				SSTR5 antisense RNA 1																		TTGGGGTCCGCGGCCGCGTGG	0.726													ENSG00000261720																																					0																																												0			-	AK056814		16p13.3	2012-10-12	2012-08-15		ENSG00000261713	ENSG00000261713		"""Long non-coding RNAs"""	26502	non-coding RNA	RNA, long non-coding			"""SSTR5 antisense RNA 1 (non-protein coding)"""				Standard	NR_027242		Approved		uc002cko.3		OTTHUMG00000172831		16.37:g.1116295C>T				R	SNP	-	NULL	ENST00000569832.1	37	NULL		16																																																																																			-	RP11-161M6.5	-	-		0.726	SSTR5-AS1-001	KNOWN	basic	lincRNA	ENSG00000261720	Clone_based_vega_gene	processed_transcript	OTTHUMT00000420783.1	0	0	0	14	14	0	0.00	0.00	C	NR_02724		1116295	+1	13	2	6	2	tier1	no_errors	ENST00000564390	ensembl	human	known	74_37	rna	68.42	50.00	SNP	0.319	T	13	6
ZNF534	147658	genome.wustl.edu	37	19	52938381	52938381	+	Missense_Mutation	SNP	A	A	G			TCGA-IW-A3M6-01A-11D-A21Q-09	TCGA-IW-A3M6-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8529e1a2-7633-4494-b732-fcc8c189c723	a594b20f-78f1-4df9-a48b-24425afb78c3	g.chr19:52938381A>G	ENST00000332323.6	+	3	290	c.229A>G	c.(229-231)Aga>Gga	p.R77G	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Missense_Mutation_p.R64G|ZNF534_ENST00000301085.4_Missense_Mutation_p.R64G	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	77	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GGAGCAAAAGAGAGATCCCTG	0.453													ENSG00000198633																																					0													125.0	103.0	110.0					19																	52938381		1568	3582	5150	SO:0001583	missense	0			-	AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.229A>G	19.37:g.52938381A>G	ENSP00000327538:p.Arg77Gly		Q76KX9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R77G	ENST00000332323.6	37	c.229	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	A	3.276	-0.148153	0.06627	.	.	ENSG00000198633	ENST00000301085;ENST00000332323;ENST00000433050;ENST00000391790	T;T;T	0.07021	5.65;3.23;3.26	1.67	-0.688	0.11317	Krueppel-associated box (2);	.	.	.	.	T	0.04998	0.0134	N	0.17631	0.505	0.09310	N	1	B;B;B	0.21309	0.054;0.0;0.025	B;B;B	0.17098	0.005;0.0;0.017	T	0.39143	-0.9628	9	0.87932	D	0	.	4.1159	0.10081	0.4699:0.0:0.5301:0.0	.	64;77;64	Q76KX8-2;Q76KX8;Q1T7F5	.;ZN534_HUMAN;.	G	64;77;64;76	ENSP00000301085:R64G;ENSP00000327538:R77G;ENSP00000391358:R64G	ENSP00000301085:R64G	R	+	1	2	ZNF534	57630193	0.039000	0.19947	0.002000	0.10522	0.027000	0.11550	-0.038000	0.12144	-0.081000	0.12662	0.338000	0.21704	AGA	-	ZNF534	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	0	0	0	100	100	8	0.00	0.00	A	NM_182512		52938381	+1	17	3	78	29	tier1	no_errors	ENST00000332323	ensembl	human	known	74_37	missense	17.89	9.38	SNP	0.000	G	17	78
