#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AFM	173	genome.wustl.edu	37	4	74363407	74363407	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:74363407G>T	ENST00000226355.3	+	10	1323	c.1230G>T	c.(1228-1230)aaG>aaT	p.K410N		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	410	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGCCTCAAGATGGTACAAC	0.338																																						dbGAP											0													97.0	93.0	94.0					4																	74363407		2203	4300	6503	-	-	-	SO:0001583	missense	0			L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1230G>T	4.37:g.74363407G>T	ENSP00000226355:p.Lys410Asn		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	pirsf_Serum_albumin_subgr,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_Serum_albumin,prints_Alpha-fetoprotein	p.K410N	ENST00000226355.3	37	c.1230	CCDS3557.1	4	.	.	.	.	.	.	.	.	.	.	G	7.982	0.751442	0.15778	.	.	ENSG00000079557	ENST00000226355	T	0.73575	-0.76	4.83	1.91	0.25777	Serum albumin-like (1);Serum albumin, N-terminal (2);	0.838243	0.10361	N	0.684025	T	0.56819	0.2011	N	0.19112	0.55	0.09310	N	1	P	0.34462	0.454	B	0.35240	0.198	T	0.52983	-0.8502	10	0.72032	D	0.01	.	3.7198	0.08452	0.2073:0.0:0.5995:0.1932	.	410	P43652	AFAM_HUMAN	N	410	ENSP00000226355:K410N	ENSP00000226355:K410N	K	+	3	2	AFM	74582271	0.000000	0.05858	0.030000	0.17652	0.164000	0.22412	0.148000	0.16224	1.115000	0.41800	0.655000	0.94253	AAG	AFM	-	pirsf_Serum_albumin_subgr,superfamily_Serum_albumin-like,smart_Serum_albumin_N	ENSG00000079557		0.338	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFM	HGNC	protein_coding	OTTHUMT00000252275.2	227	0.00	0	G			74363407	74363407	+1	no_errors	ENST00000226355	ensembl	human	known	69_37n	missense	158	11.24	20	SNP	0.002	T
AKR1E2	83592	genome.wustl.edu	37	10	4884037	4884037	+	Silent	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr10:4884037G>A	ENST00000298375.7	+	7	812	c.741G>A	c.(739-741)aaG>aaA	p.K247K	AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron|AKR1E2_ENST00000525281.1_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	247						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						AGCACGGCAAGTCTCCTGCTC	0.582																																					NSCLC(43;343 1097 20371 28813 45509)	dbGAP											0													64.0	56.0	59.0					10																	4884037		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.741G>A	10.37:g.4884037G>A			Q86Z16|Q86Z17|Q86Z18|Q9BU71	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	p.K247	ENST00000298375.7	37	c.741	CCDS31134.1	10																																																																																			AKR1E2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr	ENSG00000165568		0.582	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1E2	HGNC	protein_coding	OTTHUMT00000046520.4	114	0.00	0	G	NM_031436		4884037	4884037	+1	no_errors	ENST00000298375	ensembl	human	known	69_37n	silent	42	20.75	11	SNP	0.991	A
AMPD1	270	genome.wustl.edu	37	1	115223067	115223067	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:115223067G>C	ENST00000520113.2	-	6	694	c.679C>G	c.(679-681)Ccc>Gcc	p.P227A	AMPD1_ENST00000353928.6_Missense_Mutation_p.P194A|AMPD1_ENST00000369538.3_Missense_Mutation_p.P223A			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	227					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTCGGAAGGGGTCCTCTCCC	0.413																																						dbGAP											0													113.0	113.0	113.0					1																	115223067		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.679C>G	1.37:g.115223067G>C	ENSP00000430075:p.Pro227Ala		A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.P227A	ENST00000520113.2	37	c.679	CCDS876.2	1	.	.	.	.	.	.	.	.	.	.	G	33	5.267051	0.95399	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	T;T;T	0.67523	-0.27;-0.27;-0.27	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.82481	0.5046	M	0.89478	3.035	0.80722	D	1	D;D	0.69078	0.993;0.997	D;P	0.64595	0.927;0.803	T	0.81803	-0.0765	10	0.45353	T	0.12	-17.3075	20.6525	0.99598	0.0:0.0:1.0:0.0	.	223;194	Q5TF02;P23109	.;AMPD1_HUMAN	A	227;223;194	ENSP00000430075:P227A;ENSP00000358551:P223A;ENSP00000316520:P194A	ENSP00000316520:P194A	P	-	1	0	AMPD1	115024590	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.719000	0.98760	2.890000	0.99128	0.585000	0.79938	CCC	AMPD1	-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase	ENSG00000116748		0.413	AMPD1-001	KNOWN	basic|CCDS	protein_coding	AMPD1	HGNC	protein_coding	OTTHUMT00000032860.4	196	0.00	0	G			115223067	115223067	-1	no_errors	ENST00000520113	ensembl	human	known	69_37n	missense	129	32.81	63	SNP	1.000	C
AP1B1	162	genome.wustl.edu	37	22	29726496	29726496	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr22:29726496G>C	ENST00000405198.1	-	20	2668	c.2637C>G	c.(2635-2637)agC>agG	p.S879R	AP1B1_ENST00000415447.1_Missense_Mutation_p.S872R|AP1B1_ENST00000472057.1_5'Flank|AP1B1_ENST00000432560.2_Missense_Mutation_p.S872R|AP1B1_ENST00000356015.2_Missense_Mutation_p.S872R|SNORD125_ENST00000459538.1_RNA|AP1B1_ENST00000402502.1_Missense_Mutation_p.S872R|AP1B1_ENST00000317368.7_Missense_Mutation_p.S852R|AP1B1_ENST00000357586.2_Missense_Mutation_p.S879R			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	879					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGATGTTGCTGCTCTGCAGCT	0.662																																						dbGAP											0													82.0	74.0	77.0					22																	29726496		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.2637C>G	22.37:g.29726496G>C	ENSP00000384194:p.Ser879Arg		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu	p.S879R	ENST00000405198.1	37	c.2637	CCDS13855.1	22	.	.	.	.	.	.	.	.	.	.	G	1.752	-0.488936	0.04352	.	.	ENSG00000100280	ENST00000357586;ENST00000356015;ENST00000432560;ENST00000405198;ENST00000317368;ENST00000402502;ENST00000415447	T;T;T;T;T;T;T	0.22743	1.96;1.96;1.96;1.96;1.94;1.96;1.96	5.28	2.02	0.26589	Coatomer/calthrin adaptor appendage, C-terminal subdomain (1);Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.515804	0.22457	N	0.059819	T	0.13756	0.0333	L	0.29908	0.895	0.36273	D	0.855282	B;B;B;B;B;P	0.39964	0.022;0.022;0.022;0.027;0.07;0.697	B;B;B;B;B;B	0.43082	0.063;0.038;0.038;0.063;0.078;0.407	T	0.25398	-1.0133	10	0.14252	T	0.57	-16.4813	4.8958	0.13749	0.2366:0.0:0.6144:0.149	.	432;852;872;879;872;76	B4DS79;F8WDL0;Q10567-2;Q10567;Q10567-3;Q7Z3M8	.;.;.;AP1B1_HUMAN;.;.	R	879;872;872;879;852;872;872	ENSP00000350199:S879R;ENSP00000348297:S872R;ENSP00000400065:S872R;ENSP00000384194:S879R;ENSP00000319361:S852R;ENSP00000386071:S872R;ENSP00000387612:S872R	ENSP00000319361:S852R	S	-	3	2	AP1B1	28056496	0.758000	0.28405	0.998000	0.56505	0.011000	0.07611	1.100000	0.31025	0.228000	0.21019	-0.518000	0.04402	AGC	AP1B1	-	pfam_B-adaptin_app_sub_C,superfamily_Coatomer/calthrin_app_sub_C	ENSG00000100280		0.662	AP1B1-001	KNOWN	basic|CCDS	protein_coding	AP1B1	HGNC	protein_coding	OTTHUMT00000321374.1	33	0.00	0	G	NM_001127		29726496	29726496	-1	no_errors	ENST00000357586	ensembl	human	known	69_37n	missense	10	47.37	9	SNP	0.998	C
ARPC1A	10552	genome.wustl.edu	37	7	98942068	98942068	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:98942068G>C	ENST00000262942.5	+	4	446	c.322G>C	c.(322-324)Gag>Cag	p.E108Q	ARPC1A_ENST00000432884.2_Missense_Mutation_p.E61Q	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	108					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GTCCCCCCTAGAGAACAAATT	0.443																																						dbGAP											0													97.0	91.0	93.0					7																	98942068		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.322G>C	7.37:g.98942068G>C	ENSP00000262942:p.Glu108Gln		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E108Q	ENST00000262942.5	37	c.322	CCDS5660.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.430846	0.96150	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.66638	-0.22;-0.22	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86201	0.5876	M	0.92367	3.3	0.80722	D	1	D;D	0.64830	0.986;0.994	P;D	0.72338	0.908;0.977	D	0.86216	0.1628	10	0.37606	T	0.19	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	103;108	Q53GB6;Q92747	.;ARC1A_HUMAN	Q	61;108	ENSP00000408578:E61Q;ENSP00000262942:E108Q	ENSP00000262942:E108Q	E	+	1	0	ARPC1A	98780004	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.852000	0.99516	2.778000	0.95560	0.655000	0.94253	GAG	ARPC1A	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1	ENSG00000241685		0.443	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPC1A	HGNC	protein_coding	OTTHUMT00000335908.1	231	0.00	0	G	NM_006409		98942068	98942068	+1	no_errors	ENST00000262942	ensembl	human	known	69_37n	missense	85	23.42	26	SNP	1.000	C
ATP2A1	487	genome.wustl.edu	37	16	28913639	28913640	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr16:28913639_28913640insC	ENST00000357084.3	+	17	2723_2724	c.2456_2457insC	c.(2455-2460)cgccccfs	p.RP819fs	ATP2A1_ENST00000395503.4_Frame_Shift_Ins_p.RP819fs|ATP2A1_ENST00000536376.1_Frame_Shift_Ins_p.RP694fs	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	819					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						ATCATGGACCGCCCCCCCCGGA	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2464dupC	16.37:g.28913647_28913647dupC	ENSP00000349595:p.Arg819fs		A8K5J9|B3KY17|O14984	Frame_Shift_Ins	INS	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R822fs	ENST00000357084.3	37	c.2456_2457	CCDS10643.1	16																																																																																			ATP2A1	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp	ENSG00000196296		0.658	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	ATP2A1	HGNC	protein_coding	OTTHUMT00000254686.2	53	0.00	0	-	NM_004320		28913639	28913640	+1	no_errors	ENST00000357084	ensembl	human	known	69_37n	frame_shift_ins	50	12.28	7	INS	0.996:0.957	C
BIRC6	57448	genome.wustl.edu	37	2	32824821	32824821	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:32824821C>A	ENST00000421745.2	+	70	13980	c.13846C>A	c.(13846-13848)Cca>Aca	p.P4616T		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4616	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATAACTGGTCCAGCGGACAC	0.363																																					Pancreas(94;175 1509 16028 18060 45422)	dbGAP											0													106.0	104.0	105.0					2																	32824821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.13846C>A	2.37:g.32824821C>A	ENSP00000393596:p.Pro4616Thr		Q9ULD1	Missense_Mutation	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.P4616T	ENST00000421745.2	37	c.13846	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608086	0.87258	.	.	ENSG00000115760	ENST00000421745	T	0.77620	-1.11	5.54	5.54	0.83059	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.91345	0.7270	M	0.93106	3.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92991	0.6415	10	0.87932	D	0	.	19.4841	0.95022	0.0:1.0:0.0:0.0	.	4616	Q9NR09	BIRC6_HUMAN	T	4616	ENSP00000393596:P4616T	ENSP00000393596:P4616T	P	+	1	0	BIRC6	32678325	1.000000	0.71417	0.990000	0.47175	0.864000	0.49448	7.487000	0.81328	2.592000	0.87571	0.650000	0.86243	CCA	BIRC6	-	pfam_UBQ-conjugat_E2,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000115760		0.363	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	305	0.00	0	C	NM_016252		32824821	32824821	+1	no_errors	ENST00000421745	ensembl	human	known	69_37n	missense	118	19.18	28	SNP	1.000	A
C1QTNF5	114902	genome.wustl.edu	37	11	119210189	119210190	+	Frame_Shift_Ins	INS	-	-	C	rs369839371		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:119210189_119210190insC	ENST00000528368.1	-	3	814_815	c.583_584insG	c.(583-585)gccfs	p.A195fs	MFRP_ENST00000530681.1_3'UTR|C1QTNF5_ENST00000525657.1_5'UTR|C1QTNF5_ENST00000445041.2_Frame_Shift_Ins_p.A195fs|MFRP_ENST00000555262.1_3'UTR|RP11-334E6.10_ENST00000501918.2_RNA	NM_001278431.1	NP_001265360.1	Q9BXJ0	C1QT5_HUMAN	C1q and tumor necrosis factor related protein 5	195	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CCTCACCATGGCCCCCCCCGAG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF329841	CCDS8420.1	11q23.3	2013-05-10				ENSG00000223953			14344	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 5"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 3"""	608752				12944416	Standard	NM_015645		Approved	CTRP5, DKFZp586B0621, LORD		Q9BXJ0	OTTHUMG00000166198	ENST00000528368.1:c.584dupG	11.37:g.119210197_119210197dupC	ENSP00000431140:p.Ala195fs		A6NDD3|B0YJ35|Q335M2|Q8N6P2|Q9UFX4	Frame_Shift_Ins	INS	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	p.A195fs	ENST00000528368.1	37	c.584_583	CCDS8420.1	11																																																																																			C1QTNF5	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,prints_C1q,pfscan_C1q	ENSG00000223953		0.589	C1QTNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF5	HGNC	protein_coding	OTTHUMT00000388354.1	130	0.00	0	-	NM_015645		119210189	119210190	-1	no_errors	ENST00000445041	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	1.000:0.976	C
NOL4L	140688	genome.wustl.edu	37	20	31041555	31041556	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr20:31041555_31041556insG	ENST00000359676.5	-	4	538_539	c.396_397insC	c.(394-399)ccctacfs	p.Y133fs	C20orf112_ENST00000475781.1_5'UTR|RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		133						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCAGAGCTGTAGGGGGGGGACT	0.634																																						dbGAP											0										28,4072		1,26,2023						5.0	1.0			20	27,7927		3,21,3953	no	frameshift	C20orf112	NM_080616.3		4,47,5976	A1A1,A1R,RR		0.3395,0.6829,0.4563				55,11999				-	-	-	SO:0001589	frameshift_variant	0																														ENST00000359676.5:c.397dupC	20.37:g.31041563_31041563dupG	ENSP00000352704:p.Tyr133fs		Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Frame_Shift_Ins	INS	NULL	p.Y132fs	ENST00000359676.5	37	c.397_396	CCDS13202.1	20																																																																																			C20orf112	-	NULL	ENSG00000197183		0.634	C20orf112-001	KNOWN	basic|CCDS	protein_coding	C20orf112	HGNC	protein_coding	OTTHUMT00000078628.2	138	0.00	0	-			31041555	31041556	-1	no_errors	ENST00000359676	ensembl	human	known	69_37n	frame_shift_ins	26	16.13	5	INS	0.997:0.034	G
C4orf17	84103	genome.wustl.edu	37	4	100461586	100461586	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:100461586C>G	ENST00000326581.4	+	8	1216	c.854C>G	c.(853-855)tCt>tGt	p.S285C	C4orf17_ENST00000514652.1_Missense_Mutation_p.S285C	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	285										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTCAAGGATCTGAAGAAAAC	0.328																																						dbGAP											0													140.0	139.0	139.0					4																	100461586		2203	4295	6498	-	-	-	SO:0001583	missense	0			AL136838	CCDS3649.1	4q23	2008-02-05			ENSG00000138813	ENSG00000138813			25274	protein-coding gene	gene with protein product						11230166	Standard	NM_032149		Approved	DKFZP434G072	uc003huw.3	Q53FE4	OTTHUMG00000131027	ENST00000326581.4:c.854C>G	4.37:g.100461586C>G	ENSP00000322582:p.Ser285Cys		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	NULL	p.S285C	ENST00000326581.4	37	c.854	CCDS3649.1	4	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504095	0.44558	.	.	ENSG00000138813	ENST00000326581;ENST00000514652	T;T	0.20332	2.08;2.08	3.95	3.95	0.45737	.	0.477827	0.17969	N	0.155935	T	0.39572	0.1083	L	0.56769	1.78	0.32407	N	0.55116	D	0.76494	0.999	D	0.68483	0.958	T	0.47368	-0.9123	10	0.72032	D	0.01	-10.8247	11.8094	0.52173	0.0:1.0:0.0:0.0	.	285	Q53FE4	CD017_HUMAN	C	285	ENSP00000322582:S285C;ENSP00000427663:S285C	ENSP00000322582:S285C	S	+	2	0	C4orf17	100680609	1.000000	0.71417	0.999000	0.59377	0.471000	0.32888	1.522000	0.35921	2.503000	0.84419	0.563000	0.77884	TCT	C4orf17	-	NULL	ENSG00000138813		0.328	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf17	HGNC	protein_coding	OTTHUMT00000253670.2	409	0.00	0	C	NM_032149		100461586	100461586	+1	no_errors	ENST00000326581	ensembl	human	known	69_37n	missense	172	31.20	78	SNP	0.992	G
CACNA1F	778	genome.wustl.edu	37	X	49065756	49065756	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:49065756T>G	ENST00000376265.2	-	42	5013	c.4952A>C	c.(4951-4953)gAg>gCg	p.E1651A	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1586A|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1640A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1651					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	atcttcctcctccactccctc	0.532																																						dbGAP											0													181.0	120.0	141.0					X																	49065756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4952A>C	X.37:g.49065756T>G	ENSP00000365441:p.Glu1651Ala		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1651A	ENST00000376265.2	37	c.4952	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	T	10.42	1.345195	0.24426	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265;ENST00000486943	D;D;D	0.96522	-4.04;-3.97;-3.97	4.43	4.43	0.53597	.	1.767640	0.02684	N	0.109911	D	0.93566	0.7946	L	0.36672	1.1	0.24232	N	0.9954	B;B	0.20780	0.048;0.028	B;B	0.24541	0.054;0.024	T	0.83043	-0.0156	10	0.30854	T	0.27	.	5.8446	0.18659	0.0:0.1178:0.0:0.8822	.	1640;1651	F5CIQ9;O60840	.;CAC1F_HUMAN	A	1586;1640;1651;61	ENSP00000365427:E1586A;ENSP00000321618:E1640A;ENSP00000365441:E1651A	ENSP00000321618:E1640A	E	-	2	0	CACNA1F	48952700	0.008000	0.16893	0.200000	0.23457	0.867000	0.49689	1.693000	0.37742	1.745000	0.51790	0.486000	0.48141	GAG	CACNA1F	-	NULL	ENSG00000102001		0.532	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	494	0.00	0	T	NM_005183		49065756	49065756	-1	no_errors	ENST00000376265	ensembl	human	known	69_37n	missense	94	16.81	19	SNP	0.733	G
CAMTA2	23125	genome.wustl.edu	37	17	4875737	4875738	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:4875737_4875738insG	ENST00000348066.3	-	16	2720_2721	c.2597_2598insC	c.(2596-2598)cctfs	p.P866fs	RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.P868fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.P871fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.P889fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.P865fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.P866fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GCAGAGGTGCAGGGGGGGGACT	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2598dupC	17.37:g.4875745_4875745dupG	ENSP00000321813:p.Pro866fs		B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS	p.A890fs	ENST00000348066.3	37	c.2667_2666	CCDS11063.1	17																																																																																			CAMTA2	-	NULL	ENSG00000108509		0.614	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMTA2	HGNC	protein_coding	OTTHUMT00000216876.1	48	0.00	0	-	NM_015099		4875737	4875738	-1	no_errors	ENST00000414043	ensembl	human	known	69_37n	frame_shift_ins	30	11.76	4	INS	0.999:1.000	G
CCDC27	148870	genome.wustl.edu	37	1	3688024	3688025	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:3688024_3688025insC	ENST00000294600.2	+	12	1992_1993	c.1908_1909insC	c.(1909-1911)cccfs	p.P637fs	SMIM1_ENST00000444870.2_5'Flank|SMIM1_ENST00000561886.1_5'Flank	NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	637										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		GCGTCAAAGTGCCCCCCCTGCA	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1915dupC	1.37:g.3688031_3688031dupC	ENSP00000294600:p.Pro637fs		Q5TBV3|Q96M50	Frame_Shift_Ins	INS	superfamily_Prefoldin	p.L638fs	ENST00000294600.2	37	c.1908_1909	CCDS50.1	1																																																																																			CCDC27	-	NULL	ENSG00000162592		0.550	CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC27	HGNC	protein_coding	OTTHUMT00000009740.1	90	0.00	0	-	NM_152492		3688024	3688025	+1	no_errors	ENST00000294600	ensembl	human	known	69_37n	frame_shift_ins	32	13.51	5	INS	0.063:0.211	C
CDH10	1008	genome.wustl.edu	37	5	24511481	24511481	+	Silent	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr5:24511481G>A	ENST00000264463.4	-	6	1464	c.957C>T	c.(955-957)atC>atT	p.I319I		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	319	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I319I(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTCAGTCACGATGTCAAACA	0.428										HNSCC(23;0.051)																												dbGAP											1	Substitution - coding silent(1)	lung(1)											273.0	218.0	237.0					5																	24511481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.957C>T	5.37:g.24511481G>A			Q9ULB3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I319	ENST00000264463.4	37	c.957	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000040731		0.428	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	236	0.00	0	G	NM_006727		24511481	24511481	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	silent	64	38.46	40	SNP	0.007	A
CHD7	55636	genome.wustl.edu	37	8	61778453	61778454	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr8:61778453_61778454insG	ENST00000423902.2	+	38	9434_9435	c.8955_8956insG	c.(8956-8958)gggfs	p.G2986fs	CHD7_ENST00000524602.1_Frame_Shift_Ins_p.G937fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2986					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			ACTCACTTGATGGGGGGGATGA	0.446																																						dbGAP											0			GRCh37	CI084262	CHD7	I																																				-	-	-	SO:0001589	frameshift_variant	0			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.8962dupG	8.37:g.61778460_61778460dupG	ENSP00000392028:p.Gly2986fs		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Ins	INS	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D2987fs	ENST00000423902.2	37	c.8955_8956	CCDS47865.1	8																																																																																			CHD7	-	NULL	ENSG00000171316		0.446	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	41	0.00	0	-	XM_098762		61778453	61778454	+1	no_errors	ENST00000307121	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	0.760:1.000	G
CLPTM1	1209	genome.wustl.edu	37	19	45490564	45490564	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:45490564C>G	ENST00000337392.5	+	8	1071	c.921C>G	c.(919-921)ttC>ttG	p.F307L	CLPTM1_ENST00000541297.2_Missense_Mutation_p.F293L|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000546079.1_Missense_Mutation_p.F205L	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	307					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCGTCTCCTTCTGCCCACTCT	0.567																																						dbGAP											0													103.0	107.0	105.0					19																	45490564		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.921C>G	19.37:g.45490564C>G	ENSP00000336994:p.Phe307Leu		B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	pfam_CLPTM1	p.F307L	ENST00000337392.5	37	c.921	CCDS12651.1	19	.	.	.	.	.	.	.	.	.	.	C	14.27	2.484525	0.44147	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.64	3.61	0.41365	.	0.187049	0.49305	D	0.000157	T	0.37210	0.0995	N	0.16307	0.4	0.53688	D	0.999977	B;B;B	0.14012	0.007;0.009;0.009	B;B;B	0.19666	0.015;0.026;0.026	T	0.11299	-1.0593	9	0.12103	T	0.63	-33.1518	10.7897	0.46426	0.0:0.9066:0.0:0.0934	.	293;307;307	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	L	205;293;307;307	.	ENSP00000336994:F307L	F	+	3	2	CLPTM1	50182404	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.518000	0.53451	1.195000	0.43115	-0.252000	0.11476	TTC	CLPTM1	-	pfam_CLPTM1	ENSG00000104853		0.567	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	HGNC	protein_coding	OTTHUMT00000453267.1	117	0.00	0	C	NM_001294		45490564	45490564	+1	no_errors	ENST00000337392	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	1.000	G
COL16A1	1307	genome.wustl.edu	37	1	32149769	32149769	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:32149769C>A	ENST00000373672.3	-	32	2740	c.2224G>T	c.(2224-2226)Ggg>Tgg	p.G742W	COL16A1_ENST00000373668.3_Missense_Mutation_p.G742W|COL16A1_ENST00000271069.6_Missense_Mutation_p.G741W	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	742	Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCGGGCTGCCCAGGCCGTCCT	0.682																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											0													10.0	15.0	13.0					1																	32149769		1913	4003	5916	-	-	-	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2224G>T	1.37:g.32149769C>A	ENSP00000362776:p.Gly742Trp		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G741W	ENST00000373672.3	37	c.2221	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.464222	0.43736	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	D;D;D	0.99369	-4.65;-4.65;-5.78	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99677	0.9879	H	0.98351	4.21	0.49389	D	0.999781	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.87578	0.998;0.982;0.992	D	0.97476	1.0044	10	0.87932	D	0	.	15.2496	0.73532	0.0:1.0:0.0:0.0	.	742;742;742	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	W	742;741;742	ENSP00000362776:G742W;ENSP00000271069:G741W;ENSP00000362772:G742W	ENSP00000271069:G741W	G	-	1	0	COL16A1	31922356	1.000000	0.71417	0.988000	0.46212	0.122000	0.20287	5.643000	0.67895	2.746000	0.94184	0.591000	0.81541	GGG	COL16A1	-	NULL	ENSG00000084636		0.682	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	24	0.00	0	C	NM_001856		32149769	32149769	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	A
COL5A1	1289	genome.wustl.edu	37	9	137707450	137707451	+	Frame_Shift_Ins	INS	-	-	C	rs369945188		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr9:137707450_137707451insC	ENST00000371817.3	+	51	4457_4458	c.4043_4044insC	c.(4042-4047)ggccccfs	p.GP1348fs		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1348	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGAGATCCTGGCCCCCCCGGAG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.4050dupC	9.37:g.137707457_137707457dupC	ENSP00000360882:p.Gly1348fs		Q15094|Q5SUX4	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.G1351fs	ENST00000371817.3	37	c.4043_4044	CCDS6982.1	9																																																																																			COL5A1	-	NULL	ENSG00000130635		0.619	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	168	0.00	0	-	NM_000093		137707450	137707451	+1	no_errors	ENST00000371817	ensembl	human	known	69_37n	frame_shift_ins	19	20.83	5	INS	1.000:0.527	C
COL9A3	1299	genome.wustl.edu	37	20	61467606	61467606	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr20:61467606G>C	ENST00000343916.3	+	28	1472	c.1469G>C	c.(1468-1470)gGt>gCt	p.G490A	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	490	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGTGTTCAGGGTGTCCCCGGG	0.687																																						dbGAP											0													26.0	35.0	32.0					20																	61467606		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1469G>C	20.37:g.61467606G>C	ENSP00000341640:p.Gly490Ala		Q13681|Q9H4G9|Q9UPE2	Missense_Mutation	SNP	pfam_Collagen	p.G490A	ENST00000343916.3	37	c.1469	CCDS13505.1	20	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465797	0.63513	.	.	ENSG00000092758	ENST00000343916	D	0.99329	-5.75	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.99606	0.9857	H	0.95539	3.685	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97647	1.0152	10	0.87932	D	0	.	17.4821	0.87675	0.0:0.0:1.0:0.0	.	490	Q14050	CO9A3_HUMAN	A	490	ENSP00000341640:G490A	ENSP00000341640:G490A	G	+	2	0	COL9A3	60938051	1.000000	0.71417	0.145000	0.22337	0.051000	0.14879	7.347000	0.79356	2.117000	0.64856	0.561000	0.74099	GGT	COL9A3	-	pfam_Collagen	ENSG00000092758		0.687	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	28	0.00	0	G	NM_001853		61467606	61467606	+1	no_errors	ENST00000343916	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	0.999	C
CREBBP	1387	genome.wustl.edu	37	16	3779642	3779642	+	Silent	SNP	C	C	G	rs563965527		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr16:3779642C>G	ENST00000262367.5	-	31	6215	c.5406G>C	c.(5404-5406)gtG>gtC	p.V1802V	CREBBP_ENST00000382070.3_Silent_p.V1764V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1802	Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGGTGTGCTGCACCACCCGCT	0.637			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															dbGAP		Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													82.0	69.0	74.0					16																	3779642		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.5406G>C	16.37:g.3779642C>G			D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V1802	ENST00000262367.5	37	c.5406	CCDS10509.1	16																																																																																			CREBBP	-	pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ	ENSG00000005339		0.637	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	91	0.00	0	C	NM_004380		3779642	3779642	-1	no_errors	ENST00000262367	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	0.991	G
CUX1	1523	genome.wustl.edu	37	7	101844882	101844882	+	Frame_Shift_Del	DEL	G	G	-	rs147920735	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:101844882delG	ENST00000292535.7	+	18	2343	c.2305delG	c.(2305-2307)gcafs	p.A770fs	CUX1_ENST00000360264.3_Frame_Shift_Del_p.A781fs|CUX1_ENST00000549414.2_Frame_Shift_Del_p.A748fs|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Frame_Shift_Del_p.A612fs|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000546411.2_Frame_Shift_Del_p.A668fs|CUX1_ENST00000550008.2_Frame_Shift_Del_p.A714fs|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	770					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.A769T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAAGCCCTCCGCAGCTCCTGA	0.672																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											100.0	110.0	107.0					7																	101844882		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2305delG	7.37:g.101844882delG	ENSP00000292535:p.Ala770fs		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Frame_Shift_Del	DEL	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.A780fs	ENST00000292535.7	37	c.2338	CCDS5721.1	7																																																																																			CUX1	-	NULL	ENSG00000257923		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	106	0.00	0	G	NM_001913		101844882	101844882	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.000	-
CXorf56	63932	genome.wustl.edu	37	X	118694273	118694273	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:118694273T>G	ENST00000371594.4	-	2	278	c.200A>C	c.(199-201)aAg>aCg	p.K67T	CXorf56_ENST00000320339.4_Missense_Mutation_p.K18T|CXorf56_ENST00000536133.1_Missense_Mutation_p.K67T	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	67										cervix(1)|endometrium(2)|lung(7)	10						GTTACAAAACTTATGGGCATG	0.478																																						dbGAP											0													167.0	154.0	159.0					X																	118694273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.200A>C	X.37:g.118694273T>G	ENSP00000360652:p.Lys67Thr		A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Missense_Mutation	SNP	NULL	p.K67T	ENST00000371594.4	37	c.200	CCDS14579.1	X	.	.	.	.	.	.	.	.	.	.	T	18.67	3.674803	0.67928	.	.	ENSG00000018610	ENST00000486230;ENST00000320339;ENST00000371594;ENST00000536133;ENST00000476164	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.75561	0.3866	M	0.81112	2.525	0.80722	D	1	D;P	0.54397	0.966;0.858	P;P	0.58721	0.732;0.844	T	0.79505	-0.1776	9	0.87932	D	0	-23.3511	12.1665	0.54133	0.0:0.0:0.0:1.0	.	67;67	F5GWL7;Q9H5V9	.;CX056_HUMAN	T	67;18;67;67;67	.	ENSP00000320345:K18T	K	-	2	0	CXorf56	118578301	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	6.827000	0.75303	1.542000	0.49330	0.347000	0.21830	AAG	CXorf56	-	NULL	ENSG00000018610		0.478	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		398	0.00	0	T	NM_022101		118694273	118694273	-1	no_errors	ENST00000371594	ensembl	human	known	69_37n	missense	185	15.14	33	SNP	1.000	G
BRINP1	1620	genome.wustl.edu	37	9	122075479	122075479	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr9:122075479C>A	ENST00000265922.3	-	2	616	c.155G>T	c.(154-156)aGg>aTg	p.R52M	BRINP1_ENST00000373964.2_Missense_Mutation_p.R52M	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	52					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)		p.R52M(1)									TAGGTAGCTCCTGGAGTGGTG	0.483																																						dbGAP											1	Substitution - Missense(1)	lung(1)											96.0	94.0	95.0					9																	122075479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.155G>T	9.37:g.122075479C>A	ENSP00000265922:p.Arg52Met		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R52M	ENST00000265922.3	37	c.155	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898820	0.52227	.	.	ENSG00000078725	ENST00000373969;ENST00000265922;ENST00000373964	D;D	0.84146	-1.81;-1.81	5.26	5.26	0.73747	Membrane attack complex component/perforin (MACPF) domain (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	N	0.08118	0	0.58432	D	0.999998	D;P	0.54207	0.965;0.948	P;P	0.54590	0.726;0.756	D	0.86319	0.1691	10	0.62326	D	0.03	-19.8385	18.859	0.92265	0.0:1.0:0.0:0.0	.	52;52	O60477-2;O60477	.;DBC1_HUMAN	M	52	ENSP00000265922:R52M;ENSP00000363075:R52M	ENSP00000265922:R52M	R	-	2	0	DBC1	121115300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	2.473000	0.83533	0.561000	0.74099	AGG	DBC1	-	pfam_MACPF	ENSG00000078725		0.483	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	179	0.00	0	C	NM_014618		122075479	122075479	-1	no_errors	ENST00000265922	ensembl	human	known	69_37n	missense	131	20.12	33	SNP	1.000	A
DLEC1	9940	genome.wustl.edu	37	3	38127748	38127749	+	Frame_Shift_Ins	INS	-	-	TGTG			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:38127748_38127749insTGTG	ENST00000308059.6	+	9	1473_1474	c.1452_1453insTGTG	c.(1453-1455)tgtfs	p.-485fs	DLEC1_ENST00000452631.2_Frame_Shift_Ins_p.-485fs|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Frame_Shift_Ins_p.-485fs					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGGTGTTGGACTGTGGTTACTG	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1453_1456dupTGTG	3.37:g.38127749_38127752dupTGTG	ENSP00000308597:p.Cys485fs			Frame_Shift_Ins	INS	superfamily_PapD-like	p.G485fs	ENST00000308059.6	37	c.1452_1453	CCDS2672.2	3																																																																																			DLEC1	-	NULL	ENSG00000008226		0.485	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	235	0.00	0	-	NM_007337		38127748	38127749	+1	no_errors	ENST00000346219	ensembl	human	known	69_37n	frame_shift_ins	39	17.02	8	INS	1.000:1.000	TGTG
DMXL2	23312	genome.wustl.edu	37	15	51783884	51783884	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr15:51783884T>C	ENST00000251076.5	-	20	5131	c.4844A>G	c.(4843-4845)aAt>aGt	p.N1615S	DMXL2_ENST00000543779.2_Missense_Mutation_p.N1615S|DMXL2_ENST00000449909.3_Missense_Mutation_p.N979S|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1615						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGAATCATATTAATCAGTTC	0.418																																						dbGAP											0													98.0	105.0	103.0					15																	51783884		2195	4293	6488	-	-	-	SO:0001583	missense	0			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.4844A>G	15.37:g.51783884T>C	ENSP00000251076:p.Asn1615Ser		B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N1615S	ENST00000251076.5	37	c.4844	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632712	0.47049	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.38722	1.12;1.12;1.12	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	L	0.33485	1.01	0.80722	D	1	D;D;D	0.76494	0.989;0.992;0.999	P;D;D	0.80764	0.793;0.987;0.994	T	0.53507	-0.8429	10	0.46703	T	0.11	.	15.1319	0.72530	0.0:0.0:0.0:1.0	.	1615;979;1615	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	S	1615;1615;979	ENSP00000251076:N1615S;ENSP00000441858:N1615S;ENSP00000400855:N979S	ENSP00000251076:N1615S	N	-	2	0	DMXL2	49571176	1.000000	0.71417	1.000000	0.80357	0.062000	0.15995	5.908000	0.69916	2.040000	0.60383	0.533000	0.62120	AAT	DMXL2	-	pfam_Rav1p_C	ENSG00000104093		0.418	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	233	0.00	0	T	NM_015263		51783884	51783884	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	101	14.41	17	SNP	1.000	C
DNAH3	55567	genome.wustl.edu	37	16	21011634	21011634	+	Silent	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr16:21011634C>T	ENST00000261383.3	-	43	6332	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2111	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATCCTGGGTCTGATTGGCTG	0.507																																						dbGAP											0													176.0	138.0	151.0					16																	21011634		2201	4300	6501	-	-	-	SO:0001819	synonymous_variant	0			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.6333G>A	16.37:g.21011634C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase	p.Q2111	ENST00000261383.3	37	c.6333	CCDS10594.1	16																																																																																			DNAH3	-	pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	ENSG00000158486		0.507	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	534	0.00	0	C	NM_017539		21011634	21011634	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	185	12.32	26	SNP	1.000	T
DNAJC10	54431	genome.wustl.edu	37	2	183597233	183597233	+	Silent	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:183597233G>A	ENST00000264065.7	+	10	1228	c.813G>A	c.(811-813)ttG>ttA	p.L271L	DNAJC10_ENST00000537515.1_Silent_p.L271L	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	271	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CAGATTGTTTGACTTCACAGA	0.353																																					Pancreas(56;860 1183 25669 35822 48585)	dbGAP											0													146.0	140.0	142.0					2																	183597233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.813G>A	2.37:g.183597233G>A			Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Silent	SNP	pfam_Thioredoxin_domain,pfam_DnaJ_N,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_N,smart_DnaJ_N,pirsf_DnaJ_homolog_subfam-C,prints_Hsp_DnaJ,prints_Thioredoxin,pfscan_DnaJ_N	p.L271	ENST00000264065.7	37	c.813	CCDS33345.1	2																																																																																			DNAJC10	-	superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C	ENSG00000077232		0.353	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC10	HGNC	protein_coding	OTTHUMT00000334418.2	313	0.00	0	G	NM_018981		183597233	183597233	+1	no_errors	ENST00000264065	ensembl	human	known	69_37n	silent	103	21.37	28	SNP	1.000	A
DNMT1	1786	genome.wustl.edu	37	19	10250460	10250460	+	Silent	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:10250460G>T	ENST00000340748.4	-	33	4027	c.3792C>A	c.(3790-3792)ctC>ctA	p.L1264L	DNMT1_ENST00000359526.4_Silent_p.L1280L|DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Silent_p.L1264L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1264	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CATTCTCCAGGAGGAAGAACC	0.597																																						dbGAP											0													56.0	45.0	49.0					19																	10250460		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3792C>A	19.37:g.10250460G>T			A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	pfam_C5_MeTfrase,prints_C5_MeTfrase	p.S40Y	ENST00000340748.4	37	c.119	CCDS12228.1	19																																																																																			DNMT1	-	pfam_C5_MeTfrase,prints_C5_MeTfrase	ENSG00000130816		0.597	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	76	0.00	0	G	NM_001379		10250460	10250460	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588913	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.842	T
DPAGT1	1798	genome.wustl.edu	37	11	118967894	118967894	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:118967894delG	ENST00000409993.2	-	10	2670	c.1119delC	c.(1117-1119)cccfs	p.P373fs	DPAGT1_ENST00000432443.2_Frame_Shift_Del_p.P266fs|H2AFX_ENST00000530167.1_5'Flank|DPAGT1_ENST00000354202.4_Frame_Shift_Del_p.P373fs			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	373					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TCTCATGTATGGGCCCAAGGA	0.478																																						dbGAP											0													259.0	259.0	259.0					11																	118967894		2200	4295	6495	-	-	-	SO:0001589	frameshift_variant	0			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.1119delC	11.37:g.118967894delG	ENSP00000386597:p.Pro373fs		O15216|Q86WV9|Q9BWE6	Frame_Shift_Del	DEL	pfam_Glycosyl_transferase_4	p.I374fs	ENST00000409993.2	37	c.1119	CCDS8411.1	11																																																																																			DPAGT1	-	NULL	ENSG00000172269		0.478	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPAGT1	HGNC	protein_coding	OTTHUMT00000331527.2	428	0.00	0	G	NM_001382		118967894	118967894	-1	no_errors	ENST00000354202	ensembl	human	known	69_37n	frame_shift_del	85	25.86	30	DEL	0.987	-
ECI2	10455	genome.wustl.edu	37	6	4116163	4116163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:4116163G>C	ENST00000380118.3	-	10	1166	c.1130C>G	c.(1129-1131)tCa>tGa	p.S377*	ECI2_ENST00000465828.1_Nonsense_Mutation_p.S347*|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Nonsense_Mutation_p.S210*|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Nonsense_Mutation_p.S347*|ECI2_ENST00000361538.2_Nonsense_Mutation_p.S347*|C6orf201_ENST00000380175.4_Intron			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	377					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						GCATTCATCTGATAGCCATCT	0.413																																						dbGAP											0													285.0	231.0	249.0					6																	4116163		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1130C>G	6.37:g.4116163G>C	ENSP00000369461:p.Ser377*		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Nonsense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.S377*	ENST00000380118.3	37	c.1130	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	G	33	5.214264	0.95104	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	.	.	.	5.44	5.44	0.79542	.	0.262190	0.39407	N	0.001367	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	17.8336	0.88689	0.0:0.0:1.0:0.0	.	.	.	.	X	377;347;210;347;347	.	ENSP00000354737:S347X	S	-	2	0	ECI2	4061162	1.000000	0.71417	0.403000	0.26384	0.371000	0.29859	8.301000	0.89951	2.536000	0.85505	0.655000	0.94253	TCA	ECI2	-	NULL	ENSG00000198721		0.413	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	526	0.00	0	G	NM_006117		4116163	4116163	-1	no_errors	ENST00000380118	ensembl	human	known	69_37n	nonsense	89	21.93	25	SNP	0.979	C
ELAVL3	1995	genome.wustl.edu	37	19	11577604	11577605	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:11577604_11577605insC	ENST00000359227.3	-	2	471_472	c.47_48insG	c.(46-48)ggcfs	p.G16fs	CTC-398G3.6_ENST00000585656.1_Frame_Shift_Ins_p.G170fs|RN7SL669P_ENST00000581926.1_RNA|ELAVL3_ENST00000438662.2_Frame_Shift_Ins_p.G16fs	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	16					cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						ggccggccgggcccccccccAC	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.48dupG	19.37:g.11577613_11577613dupC	ENSP00000352162:p.Gly16fs		Q16135|Q96CL8|Q96QS9	Frame_Shift_Ins	INS	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF	p.A18fs	ENST00000359227.3	37	c.48_47	CCDS32912.1	19																																																																																			ELAVL3	-	NULL	ENSG00000196361		0.649	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	151	0.66	1	-	NM_001420		11577604	11577605	-1	no_errors	ENST00000359227	ensembl	human	known	69_37n	frame_shift_ins	90	13.46	14	INS	1.000:1.000	C
FAM208B	54906	genome.wustl.edu	37	10	5800903	5800903	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr10:5800903T>C	ENST00000328090.5	+	18	7565	c.6940T>C	c.(6940-6942)Tgg>Cgg	p.W2314R		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	2314																	AAATGGAAGATGGAAGTGGTT	0.378																																						dbGAP											0													112.0	105.0	107.0					10																	5800903		1868	4087	5955	-	-	-	SO:0001583	missense	0			BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.6940T>C	10.37:g.5800903T>C	ENSP00000328426:p.Trp2314Arg		Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	pfam_DUF3715,pfam_DUF3699	p.W2314R	ENST00000328090.5	37	c.6940	CCDS41485.1	10	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806973	0.70797	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.58652	0.32	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000024	T	0.77294	0.4109	M	0.82056	2.57	0.49483	D	0.999797	D	0.89917	1.0	D	0.87578	0.998	T	0.80968	-0.1145	10	0.87932	D	0	.	15.2537	0.73568	0.0:0.0:0.0:1.0	.	2314	Q5VWN6	F208B_HUMAN	R	2314;1509	ENSP00000328426:W2314R	ENSP00000328426:W2314R	W	+	1	0	C10orf18	5840909	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	6.623000	0.74238	2.072000	0.62099	0.528000	0.53228	TGG	FAM208B	-	NULL	ENSG00000108021		0.378	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM208B	HGNC	protein_coding	OTTHUMT00000046571.2	554	0.00	0	T	NM_017782		5800903	5800903	+1	no_errors	ENST00000328090	ensembl	human	known	69_37n	missense	134	10.00	15	SNP	1.000	C
CCSER2	54462	genome.wustl.edu	37	10	86259685	86259685	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr10:86259685C>A	ENST00000224756.8	+	10	2565	c.2380C>A	c.(2380-2382)Cca>Aca	p.P794T	CCSER2_ENST00000494144.1_Intron|CCSER2_ENST00000372088.2_Intron|CCSER2_ENST00000543283.1_Missense_Mutation_p.P221T	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	794					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											CCAGGGGATCCCACGGACTGT	0.547																																						dbGAP											0													127.0	112.0	117.0					10																	86259685		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.2380C>A	10.37:g.86259685C>A	ENSP00000224756:p.Pro794Thr		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Missense_Mutation	SNP	NULL	p.P794T	ENST00000224756.8	37	c.2380	CCDS31235.1	10	.	.	.	.	.	.	.	.	.	.	C	14.60	2.583135	0.46006	.	.	ENSG00000107771	ENST00000224756;ENST00000543283	T;T	0.22336	2.27;1.96	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000004	T	0.43809	0.1264	L	0.54323	1.7	0.42964	D	0.994413	D	0.89917	1.0	D	0.87578	0.998	T	0.05402	-1.0887	10	0.44086	T	0.13	.	17.9083	0.88926	0.0:1.0:0.0:0.0	.	794	Q9H7U1	F190B_HUMAN	T	794;221	ENSP00000224756:P794T;ENSP00000439944:P221T	ENSP00000224756:P794T	P	+	1	0	FAM190B	86249665	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.264000	0.51553	2.833000	0.97629	0.555000	0.69702	CCA	FAM190B	-	NULL	ENSG00000107771		0.547	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190B	HGNC	protein_coding	OTTHUMT00000049132.2	244	0.00	0	C	NM_018999		86259685	86259685	+1	no_errors	ENST00000224756	ensembl	human	known	69_37n	missense	106	20.90	28	SNP	1.000	A
GPR125	166647	genome.wustl.edu	37	4	22438206	22438206	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:22438206C>G	ENST00000334304.5	-	9	1413	c.1144G>C	c.(1144-1146)Ggc>Cgc	p.G382R	GPR125_ENST00000502482.1_Missense_Mutation_p.G382R|GPR125_ENST00000508133.1_Missense_Mutation_p.G156R|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	382					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCCCACTGCCATGGGTGTTC	0.458																																						dbGAP											0													89.0	79.0	82.0					4																	22438206		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.1144G>C	4.37:g.22438206C>G	ENSP00000334952:p.Gly382Arg		Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.G382R	ENST00000334304.5	37	c.1144	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302550	0.60195	.	.	ENSG00000152990	ENST00000334304;ENST00000508133;ENST00000502482	T;T;T	0.63913	-0.07;-0.07;-0.07	6.17	2.55	0.30701	GPCR, family 2, extracellular hormone receptor domain (2);	0.183460	0.64402	N	0.000013	T	0.62011	0.2393	L	0.40543	1.245	0.38782	D	0.954781	B;P;B;B	0.46395	0.001;0.877;0.133;0.331	B;P;B;B	0.53224	0.006;0.721;0.08;0.351	T	0.60845	-0.7182	10	0.45353	T	0.12	-11.331	10.4869	0.44729	0.0:0.7437:0.0:0.2563	.	257;382;156;382	Q8IWK6-3;Q8IWK6-2;Q8IWK6-4;Q8IWK6	.;.;.;GP125_HUMAN	R	382;156;382	ENSP00000334952:G382R;ENSP00000422606:G156R;ENSP00000421006:G382R	ENSP00000334952:G382R	G	-	1	0	GPR125	22047304	0.943000	0.32029	0.430000	0.26722	0.985000	0.73830	1.934000	0.40163	0.173000	0.19788	0.655000	0.94253	GGC	GPR125	-	pfam_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom	ENSG00000152990		0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	HGNC	protein_coding	OTTHUMT00000362960.3	235	0.42	1	C			22438206	22438206	-1	no_errors	ENST00000334304	ensembl	human	known	69_37n	missense	92	25.81	32	SNP	0.797	G
GPR151	134391	genome.wustl.edu	37	5	145895382	145895382	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr5:145895382A>G	ENST00000311104.2	-	1	371	c.295T>C	c.(295-297)Tac>Cac	p.Y99H		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	99						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTTGGAGTACGCCGTAGCT	0.507																																					Pancreas(78;420 1386 18535 37114 49710)	dbGAP											0													121.0	118.0	119.0					5																	145895382		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.295T>C	5.37:g.145895382A>G	ENSP00000308733:p.Tyr99His		Q86SN8|Q8NGV2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.Y99H	ENST00000311104.2	37	c.295	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987644	0.53934	.	.	ENSG00000173250	ENST00000311104	T	0.38401	1.14	5.88	5.88	0.94601	GPCR, rhodopsin-like superfamily (1);	0.065823	0.64402	D	0.000007	T	0.59128	0.2171	M	0.71581	2.175	0.45284	D	0.998283	D	0.89917	1.0	D	0.97110	1.0	T	0.57254	-0.7843	10	0.35671	T	0.21	.	15.2834	0.73806	1.0:0.0:0.0:0.0	.	99	Q8TDV0	GP151_HUMAN	H	99	ENSP00000308733:Y99H	ENSP00000308733:Y99H	Y	-	1	0	GPR151	145875575	1.000000	0.71417	0.989000	0.46669	0.284000	0.27059	7.954000	0.87848	2.246000	0.74042	0.533000	0.62120	TAC	GPR151	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000173250		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	HGNC	protein_coding	OTTHUMT00000373457.1	286	0.00	0	A	NM_194251		145895382	145895382	-1	no_errors	ENST00000311104	ensembl	human	known	69_37n	missense	91	34.53	48	SNP	1.000	G
GPR27	2850	genome.wustl.edu	37	3	71804099	71804099	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:71804099A>G	ENST00000304411.2	+	1	899	c.899A>G	c.(898-900)tAc>tGc	p.Y300C	EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	300					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGGGCCCTACGTCGTGGCC	0.682																																						dbGAP											0													30.0	38.0	35.0					3																	71804099		2200	4300	6500	-	-	-	SO:0001583	missense	0			AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.899A>G	3.37:g.71804099A>G	ENSP00000303149:p.Tyr300Cys			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.Y300C	ENST00000304411.2	37	c.899	CCDS2915.1	3	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372984	0.42105	.	.	ENSG00000170837	ENST00000304411	T	0.74526	-0.85	4.26	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000004	D	0.84946	0.5585	M	0.82323	2.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.84474	0.0601	10	0.87932	D	0	-1.9474	9.7112	0.40247	0.8444:0.0:0.0:0.1556	.	300	Q9NS67	GPR27_HUMAN	C	300	ENSP00000303149:Y300C	ENSP00000303149:Y300C	Y	+	2	0	GPR27	71886789	1.000000	0.71417	0.994000	0.49952	0.168000	0.22595	7.327000	0.79147	0.461000	0.27071	0.378000	0.23410	TAC	GPR27	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170837		0.682	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR27	HGNC	protein_coding	OTTHUMT00000352303.1	20	0.00	0	A	NM_018971		71804099	71804099	+1	no_errors	ENST00000304411	ensembl	human	known	69_37n	missense	6	75.00	18	SNP	1.000	G
GRM3	2913	genome.wustl.edu	37	7	86468645	86468645	+	Silent	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:86468645C>T	ENST00000361669.2	+	4	2914	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.P197P|GRM3_ENST00000536043.1_Silent_p.P477P	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	605					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACAACACACCCTTGGTCAAAG	0.488																																					GBM(52;969 1098 3139 52280)	dbGAP											0													193.0	150.0	165.0					7																	86468645		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1815C>T	7.37:g.86468645C>T			Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B,pfscan_GPCR_3_C	p.P605	ENST00000361669.2	37	c.1815	CCDS5600.1	7																																																																																			GRM3	-	pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C	ENSG00000198822		0.488	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	250	0.00	0	C			86468645	86468645	+1	no_errors	ENST00000361669	ensembl	human	known	69_37n	silent	161	20.69	42	SNP	0.356	T
GUCY2D	3000	genome.wustl.edu	37	17	7912874	7912874	+	Silent	SNP	C	C	T	rs377287956		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:7912874C>T	ENST00000254854.4	+	8	1869	c.1719C>T	c.(1717-1719)atC>atT	p.I573I		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	573	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		I -> V (in LCA1).		intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				ACATAGCTATCCGCCCAGCAA	0.557																																						dbGAP											0													117.0	109.0	112.0					17																	7912874		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1719C>T	17.37:g.7912874C>T			Q6LEA7	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I573	ENST00000254854.4	37	c.1719	CCDS11127.1	17																																																																																			GUCY2D	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000132518		0.557	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	136	0.00	0	C			7912874	7912874	+1	no_errors	ENST00000254854	ensembl	human	known	69_37n	silent	28	39.13	18	SNP	0.999	T
HECW2	57520	genome.wustl.edu	37	2	197136015	197136015	+	Splice_Site	SNP	T	T	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:197136015T>A	ENST00000260983.3	-	17	3421		c.e17-2		HECW2_ENST00000409111.1_Splice_Site	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CATTGTAAGCTGAAAAAAAAA	0.348																																						dbGAP											0													54.0	54.0	54.0					2																	197136015		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3239-2A>T	2.37:g.197136015T>A			B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Splice_Site	SNP	-	e16-2	ENST00000260983.3	37	c.3239-2	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091729	0.76756	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3042	0.73979	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	HECW2	196844260	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.761000	0.85260	2.155000	0.67459	0.460000	0.39030	.	HECW2	-	-	ENSG00000138411		0.348	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	158	0.63	1	T	NM_020760	Intron	197136015	197136015	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	splice_site	58	38.54	37	SNP	1.000	A
IL13RA2	3598	genome.wustl.edu	37	X	114242507	114242507	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:114242507G>T	ENST00000371936.1	-	9	1234	c.985C>A	c.(985-987)Caa>Aaa	p.Q329K	IL13RA2_ENST00000243213.1_Missense_Mutation_p.Q329K			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	329	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TCCCAGCATTGTTTATCACTC	0.338																																						dbGAP											0													214.0	185.0	195.0					X																	114242507		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.985C>A	X.37:g.114242507G>T	ENSP00000361004:p.Gln329Lys		A8K7E2|O00667	Missense_Mutation	SNP	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	p.Q329K	ENST00000371936.1	37	c.985	CCDS14565.1	X	.	.	.	.	.	.	.	.	.	.	g	0	-2.763863	0.00082	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	T;T	0.67865	-0.29;-0.29	4.1	-3.11	0.05299	Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.356900	0.01150	N	0.006399	T	0.56140	0.1965	L	0.53249	1.67	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.09335	-1.0679	10	0.25751	T	0.34	1.0267	2.3648	0.04316	0.0956:0.2754:0.2217:0.4073	.	329	Q14627	I13R2_HUMAN	K	329	ENSP00000361004:Q329K;ENSP00000243213:Q329K	ENSP00000243213:Q329K	Q	-	1	0	IL13RA2	114148763	0.000000	0.05858	0.001000	0.08648	0.152000	0.21847	-0.892000	0.04131	-1.100000	0.03030	-0.273000	0.10243	CAA	IL13RA2	-	superfamily_Fibronectin_type3	ENSG00000123496		0.338	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	990	0.00	0	G	NM_000640		114242507	114242507	-1	no_errors	ENST00000243213	ensembl	human	known	69_37n	missense	336	29.56	141	SNP	0.000	T
IL1RL1	9173	genome.wustl.edu	37	2	102964505	102964505	+	Silent	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:102964505C>A	ENST00000233954.1	+	9	1342	c.1071C>A	c.(1069-1071)gcC>gcA	p.A357A		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	357					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GGATTGAGGCCACTCTGCTCT	0.368																																						dbGAP											0													139.0	131.0	134.0					2																	102964505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1071C>A	2.37:g.102964505C>A			A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II	p.A357	ENST00000233954.1	37	c.1071	CCDS2057.1	2																																																																																			IL1RL1	-	prints_IL1_rcpt_1	ENSG00000115602		0.368	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL1	HGNC	protein_coding	OTTHUMT00000253296.1	528	0.00	0	C	NM_016232		102964505	102964505	+1	no_errors	ENST00000233954	ensembl	human	known	69_37n	silent	150	20.63	39	SNP	0.001	A
INTU	27152	genome.wustl.edu	37	4	128565122	128565122	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:128565122G>A	ENST00000335251.6	+	2	696	c.593G>A	c.(592-594)aGa>aAa	p.R198K	INTU_ENST00000296461.5_Missense_Mutation_p.R198K	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	198	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCTGGAGAAGAACCGGAAAG	0.498																																						dbGAP											0													140.0	135.0	137.0					4																	128565122		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.593G>A	4.37:g.128565122G>A	ENSP00000334003:p.Arg198Lys		A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R198K	ENST00000335251.6	37	c.593	CCDS34061.1	4	.	.	.	.	.	.	.	.	.	.	G	13.21	2.168871	0.38315	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.46819	0.86	4.8	3.01	0.34805	PDZ/DHR/GLGF (2);	0.319549	0.34156	N	0.004218	T	0.29652	0.0740	N	0.20685	0.6	0.32670	N	0.516915	B	0.02656	0.0	B	0.04013	0.001	T	0.26643	-1.0097	10	0.28530	T	0.3	-13.1171	9.7754	0.40616	0.1729:0.0:0.8271:0.0	.	198	Q9ULD6	PDZD6_HUMAN	K	179;198;198	ENSP00000296461:R198K	ENSP00000296461:R198K	R	+	2	0	INTU	128784572	1.000000	0.71417	0.766000	0.31476	0.893000	0.52053	2.309000	0.43699	0.685000	0.31468	0.655000	0.94253	AGA	INTU	-	smart_PDZ,pfscan_PDZ	ENSG00000164066		0.498	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	INTU	HGNC	protein_coding	OTTHUMT00000364147.2	204	0.00	0	G	XM_371707		128565122	128565122	+1	no_errors	ENST00000335251	ensembl	human	known	69_37n	missense	63	42.73	47	SNP	0.931	A
IRF1	3659	genome.wustl.edu	37	5	131823647	131823647	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr5:131823647C>T	ENST00000245414.4	-	3	416	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	IRF1_ENST00000463784.1_Intron|IRF1_ENST00000405885.2_Missense_Mutation_p.C53Y	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	53					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CCGGAACAAACAGGCATCCTT	0.532																																						dbGAP											0													111.0	88.0	96.0					5																	131823647		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.158G>A	5.37:g.131823647C>T	ENSP00000245414:p.Cys53Tyr		Q96GG7	Missense_Mutation	SNP	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.C53Y	ENST00000245414.4	37	c.158	CCDS4155.1	5	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663513	0.67700	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.97665	-4.48;-4.48;-4.48;-4.48	5.35	5.35	0.76521	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.234169	0.52532	D	0.000080	D	0.97848	0.9293	L	0.59436	1.845	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98525	1.0625	10	0.72032	D	0.01	-9.0447	15.4296	0.75081	0.0:0.8609:0.1391:0.0	.	53;53	Q5FBX3;P10914	.;IRF1_HUMAN	Y	53	ENSP00000245414:C53Y;ENSP00000384406:C53Y;ENSP00000405655:C53Y;ENSP00000396318:C53Y	ENSP00000245414:C53Y	C	-	2	0	IRF1	131851546	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.602000	0.46257	2.514000	0.84764	0.655000	0.94253	TGT	IRF1	-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	ENSG00000125347		0.532	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF1	HGNC	protein_coding	OTTHUMT00000132340.1	55	0.00	0	C	NM_002198		131823647	131823647	-1	no_errors	ENST00000245414	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	T
JAG1	182	genome.wustl.edu	37	20	10625009	10625009	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr20:10625009G>T	ENST00000254958.5	-	19	2883	c.2368C>A	c.(2368-2370)Ccc>Acc	p.P790T	JAG1_ENST00000423891.2_Missense_Mutation_p.P631T|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	790	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTACCAGGGATGAGGGCTG	0.463									Alagille Syndrome																													dbGAP											0													139.0	100.0	113.0					20																	10625009		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.2368C>A	20.37:g.10625009G>T	ENSP00000254958:p.Pro790Thr		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EGF-like,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.P790T	ENST00000254958.5	37	c.2368	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798967	0.90538	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.91521	-2.86;-2.86	6.07	6.07	0.98685	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96150	0.8745	M	0.85462	2.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95816	0.8845	10	0.87932	D	0	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	790	P78504	JAG1_HUMAN	T	790;631	ENSP00000254958:P790T;ENSP00000389519:P631T	ENSP00000254958:P790T	P	-	1	0	JAG1	10573009	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.884000	0.98904	0.655000	0.94253	CCC	JAG1	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000101384		0.463	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		167	0.00	0	G	NM_000214		10625009	10625009	-1	no_errors	ENST00000254958	ensembl	human	known	69_37n	missense	25	47.92	23	SNP	1.000	T
KBTBD6	89890	genome.wustl.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080|rs370605552	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggcgafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1327dupG	13.37:g.41705328_41705328dupC	ENSP00000368799:p.Arg443fs		Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Ins	INS	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.R442fs	ENST00000379485.1	37	c.1327_1326	CCDS9376.1	13																																																																																			KBTBD6	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000165572		0.470	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD6	HGNC	protein_coding	OTTHUMT00000044657.1	110	0.00	0	-	NM_152903		41705321	41705322	-1	no_errors	ENST00000379485	ensembl	human	known	69_37n	frame_shift_ins	69	11.54	9	INS	0.947:0.558	C
KCNB1	3745	genome.wustl.edu	37	20	47989890	47989891	+	Frame_Shift_Ins	INS	-	-	G	rs151175979		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr20:47989890_47989891insG	ENST00000371741.4	-	2	2372_2373	c.2206_2207insC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTCAGGAGACCGGGGGGGTGTC	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2207dupC	20.37:g.47989897_47989897dupG	ENSP00000360806:p.Arg736fs		Q14193	Frame_Shift_Ins	INS	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.R736fs	ENST00000371741.4	37	c.2207_2206	CCDS13418.1	20																																																																																			KCNB1	-	prints_K_chnl_volt-dep_Kv2.1	ENSG00000158445		0.559	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	111	0.00	0	-	NM_004975		47989890	47989891	-1	no_errors	ENST00000371741	ensembl	human	known	69_37n	frame_shift_ins	80	11.11	10	INS	1.000:1.000	G
KCNN3	3782	genome.wustl.edu	37	1	154842243	154842244	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:154842243_154842244AA>CT	ENST00000271915.4	-	1	512_513	c.197_198TT>AG	c.(196-198)cTT>cAG	p.L66Q	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	66	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	gctgctgctgaagctgcggagg	0.703																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.197_198delinsCT	1.37:g.154842243_154842244delinsCT	ENSP00000271915:p.Leu66Gln		B1ANX0|O43517|Q86VF9|Q8WXG7	Silent|Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.L66|p.L66H	ENST00000271915.4	37	c.198|c.197	CCDS30880.1	1																																																																																			KCNN3	-	NULL	ENSG00000143603		0.703	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3	24	0.00	0	A	NM_002249		154842243|154842244	154842243|154842244	-1	no_errors	ENST00000271915	ensembl	human	known	69_37n	silent|missense	38|39	22.45|21.57	11	SNP	0.000|0.166	C|T
KDR	3791	genome.wustl.edu	37	4	55980407	55980407	+	Silent	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:55980407C>G	ENST00000263923.4	-	6	979	c.684G>C	c.(682-684)ctG>ctC	p.L228L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	228	Ig-like C2-type 3.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGACGGACTCAGAACCACAT	0.353			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												dbGAP		Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													106.0	98.0	100.0					4																	55980407		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.684G>C	4.37:g.55980407C>G			A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.L228	ENST00000263923.4	37	c.684	CCDS3497.1	4																																																																																			KDR	-	pfscan_Ig-like	ENSG00000128052		0.353	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	193	0.00	0	C			55980407	55980407	-1	no_errors	ENST00000263923	ensembl	human	known	69_37n	silent	111	40.64	76	SNP	1.000	G
KIAA1107	23285	genome.wustl.edu	37	1	92642676	92642676	+	Silent	SNP	A	A	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:92642676A>C	ENST00000370378.4	+	5	710	c.612A>C	c.(610-612)acA>acC	p.T204T	KIAA1107_ENST00000409154.4_Silent_p.T259T	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	259										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						AATCCAAAACAGAAAATGGTG	0.373																																						dbGAP											0													63.0	53.0	56.0					1																	92642676		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.612A>C	1.37:g.92642676A>C			O14767|Q8N3X7	Silent	SNP	NULL	p.T259	ENST00000370378.4	37	c.777	CCDS44172.1	1																																																																																			KIAA1107	-	NULL	ENSG00000069712		0.373	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	191	0.00	0	A	XM_034086		92642676	92642676	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	silent	90	23.08	27	SNP	1.000	C
KLHL14	57565	genome.wustl.edu	37	18	30267172	30267172	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr18:30267172C>G	ENST00000359358.4	-	5	1622	c.1184G>C	c.(1183-1185)aGc>aCc	p.S395T		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	395						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ATCATATCGGCTGACAAAATT	0.363																																						dbGAP											0													163.0	152.0	155.0					18																	30267172		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1184G>C	18.37:g.30267172C>G	ENSP00000352314:p.Ser395Thr		A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S395T	ENST00000359358.4	37	c.1184	CCDS32813.1	18	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096034	0.56075	.	.	ENSG00000197705	ENST00000359358	T	0.78003	-1.14	5.17	5.17	0.71159	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.82185	0.4982	N	0.25485	0.75	0.80722	D	1	D	0.53885	0.963	D	0.69824	0.966	D	0.84177	0.0437	10	0.59425	D	0.04	.	18.6659	0.91489	0.0:1.0:0.0:0.0	.	395	Q9P2G3	KLH14_HUMAN	T	395	ENSP00000352314:S395T	ENSP00000352314:S395T	S	-	2	0	KLHL14	28521170	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.390000	0.81377	0.563000	0.77884	AGC	KLHL14	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.363	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	264	0.00	0	C			30267172	30267172	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	missense	131	33.50	66	SNP	1.000	G
KLK2	3817	genome.wustl.edu	37	19	51381748	51381748	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:51381748C>T	ENST00000325321.3	+	5	944	c.719C>T	c.(718-720)cCt>cTt	p.P240L	KLK2_ENST00000391810.2_Missense_Mutation_p.P138L|KLK2_ENST00000358049.4_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	240	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		CCTGAAAAGCCTGCTGTGTAC	0.542			T	ETV4	prostate																																	dbGAP		Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													205.0	195.0	199.0					19																	51381748		2203	4300	6503	-	-	-	SO:0001583	missense	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.719C>T	19.37:g.51381748C>T	ENSP00000313581:p.Pro240Leu		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P240L	ENST00000325321.3	37	c.719	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	C	19.72	3.880536	0.72294	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.91180	-2.8;-2.8	3.54	3.54	0.40534	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.37906	N	0.001892	D	0.95758	0.8620	M	0.91663	3.23	0.46185	D	0.998919	D;D	0.89917	1.0;1.0	D;D	0.79108	0.977;0.992	D	0.96434	0.9321	10	0.87932	D	0	.	12.9596	0.58451	0.0:1.0:0.0:0.0	.	223;240	B4DU77;P20151	.;KLK2_HUMAN	L	240;138	ENSP00000313581:P240L;ENSP00000375686:P138L	ENSP00000313581:P240L	P	+	2	0	KLK2	56073560	0.997000	0.39634	0.010000	0.14722	0.005000	0.04900	4.236000	0.58675	1.679000	0.50963	0.563000	0.77884	CCT	KLK2	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6	ENSG00000167751		0.542	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3	249	0.00	0	C	NM_005551.3		51381748	51381748	+1	no_errors	ENST00000325321	ensembl	human	known	69_37n	missense	118	18.49	27	SNP	0.960	T
KRTAP10-6	386674	genome.wustl.edu	37	21	46011700	46011700	+	Silent	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr21:46011700G>A	ENST00000400368.1	-	1	686	c.666C>T	c.(664-666)tcC>tcT	p.S222S	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	222	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GCTGGCAGGGGGAGGAGGTGC	0.652																																						dbGAP											0													103.0	125.0	118.0					21																	46011700		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.666C>T	21.37:g.46011700G>A				Silent	SNP	NULL	p.S222	ENST00000400368.1	37	c.666	CCDS42959.1	21																																																																																			KRTAP10-6	-	NULL	ENSG00000188155		0.652	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-6	HGNC	protein_coding	OTTHUMT00000128037.1	218	0.00	0	G	NM_198688		46011700	46011700	-1	no_errors	ENST00000400368	ensembl	human	known	69_37n	silent	179	35.38	98	SNP	0.041	A
LDHC	3948	genome.wustl.edu	37	11	18451315	18451316	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:18451315_18451316insC	ENST00000541669.1	+	4	387_388	c.276_277insC	c.(277-279)attfs	p.I93fs	LDHC_ENST00000536880.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000535809.1_Frame_Shift_Ins_p.I93fs|LDHC_ENST00000537486.1_Frame_Shift_Ins_p.I93fs|LDHC_ENST00000544105.1_Frame_Shift_Ins_p.I93fs|LDHC_ENST00000280704.4_Frame_Shift_Ins_p.I93fs			P07864	LDHC_HUMAN	lactate dehydrogenase C	93					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGAATAGTTATTGTCACAGC	0.406																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	Exception_encountered	11.37:g.18451315_18451316insC	ENSP00000437783:p.Ile93fs		D3DQY4|Q6GSG8|Q7Z7J4	Frame_Shift_Ins	INS	pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH	p.I92fs	ENST00000541669.1	37	c.276_277	CCDS7840.1	11																																																																																			LDHC	-	pfam_Lactate/malate_DH_N,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH	ENSG00000166796		0.406	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHC	HGNC	protein_coding	OTTHUMT00000395892.1	120	0.00	0	-	NM_017448		18451315	18451316	+1	no_errors	ENST00000280704	ensembl	human	known	69_37n	frame_shift_ins	92	22.03	26	INS	1.000:1.000	C
LMTK2	22853	genome.wustl.edu	37	7	97822843	97822844	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:97822843_97822844insC	ENST00000297293.5	+	11	3359_3360	c.3066_3067insC	c.(3067-3069)cccfs	p.P1023fs		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1023					early endosome to late endosome transport (GO:0045022)|endocytic recycling (GO:0032456)|negative regulation of catalytic activity (GO:0043086)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor recycling (GO:0001881)|transferrin transport (GO:0033572)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|myosin VI binding (GO:0070853)|protein phosphatase inhibitor activity (GO:0004864)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAAACTAGTGCCCCCCGATAA	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB029002	CCDS5654.1	7q22.1	2014-06-12			ENSG00000164715	ENSG00000164715			17880	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 100"""	610989				15005709	Standard	NM_014916		Approved	KIAA1079, KPI2, KPI-2, cprk, LMR2, BREK, AATYK2, PPP1R100	uc003upd.2	Q8IWU2	OTTHUMG00000154256	ENST00000297293.5:c.3072dupC	7.37:g.97822849_97822849dupC	ENSP00000297293:p.Pro1023fs		A4D272|Q75MG7|Q9UPS3	Frame_Shift_Ins	INS	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D1024fs	ENST00000297293.5	37	c.3066_3067	CCDS5654.1	7																																																																																			LMTK2	-	NULL	ENSG00000164715		0.594	LMTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMTK2	HGNC	protein_coding	OTTHUMT00000334560.1	111	0.00	0	-	NM_014916		97822843	97822844	+1	no_errors	ENST00000297293	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	0.439:0.991	C
LRP2	4036	genome.wustl.edu	37	2	169997024	169997025	+	Frame_Shift_Ins	INS	-	-	G	rs80338754		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:169997024_169997025insG	ENST00000263816.3	-	72	13424_13425	c.13139_13140insC	c.(13138-13140)ccafs	p.P4380fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4380	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGCACCTGCATGGGGGGGGCAG	0.535																																						dbGAP											0			GRCh37	CI073757	LRP2	I	rs80338754																																			-	-	-	SO:0001589	frameshift_variant	0				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.13140dupC	2.37:g.169997032_169997032dupG	ENSP00000263816:p.Pro4380fs		O00711|Q16215	Frame_Shift_Ins	INS	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.C4381fs	ENST00000263816.3	37	c.13140_13139	CCDS2232.1	2																																																																																			LRP2	-	superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom	ENSG00000081479		0.535	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	110	0.90	1	-	NM_004525		169997024	169997025	-1	no_errors	ENST00000263816	ensembl	human	known	69_37n	frame_shift_ins	56	11.11	7	INS	1.000:1.000	G
LRRN1	57633	genome.wustl.edu	37	3	3887664	3887664	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:3887664T>C	ENST00000319331.3	+	2	2100	c.1339T>C	c.(1339-1341)Tgt>Cgt	p.C447R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	447	Ig-like C2-type.					integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTTCCTAGACTGTCGAGCCAT	0.443																																						dbGAP											0													69.0	74.0	72.0					3																	3887664		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.1339T>C	3.37:g.3887664T>C	ENSP00000314901:p.Cys447Arg		Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C447R	ENST00000319331.3	37	c.1339	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523871	0.64747	.	.	ENSG00000175928	ENST00000319331	T	0.74002	-0.8	5.65	5.65	0.86999	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92041	0.7478	H	0.99011	4.4	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95186	0.8304	10	0.87932	D	0	.	15.8761	0.79162	0.0:0.0:0.0:1.0	.	447	Q6UXK5	LRRN1_HUMAN	R	447	ENSP00000314901:C447R	ENSP00000314901:C447R	C	+	1	0	LRRN1	3862664	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.975000	0.88055	2.153000	0.67306	0.528000	0.53228	TGT	LRRN1	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000175928		0.443	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	83	0.00	0	T	NM_020873		3887664	3887664	+1	no_errors	ENST00000319331	ensembl	human	known	69_37n	missense	60	23.75	19	SNP	1.000	C
MAPRE3	22924	genome.wustl.edu	37	2	27248516	27248517	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:27248516_27248517insC	ENST00000233121.2	+	5	733_734	c.535_536insC	c.(535-537)gccfs	p.A179fs	MAPRE3_ENST00000405074.3_Frame_Shift_Ins_p.A164fs|MAPRE3_ENST00000402218.1_Frame_Shift_Ins_p.A164fs			Q9UPY8	MARE3_HUMAN	microtubule-associated protein, RP/EB family, member 3	179					mitotic nuclear division (GO:0007067)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule plus-end binding (GO:1903033)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)	p.C182fs*16(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCAATGTGGCCCCCCCCTGC	0.564																																						dbGAP											2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)								39,4227		0,39,2094						4.4	1.0			60	29,8225		0,29,4098	no	frameshift	MAPRE3	NM_012326.2		0,68,6192	A1A1,A1R,RR		0.3513,0.9142,0.5431				68,12452				-	-	-	SO:0001589	frameshift_variant	0			Y11174	CCDS1731.1	2p23.3-p23.1	2008-06-04			ENSG00000084764	ENSG00000084764			6892	protein-coding gene	gene with protein product		605788				9233623	Standard	NM_012326		Approved	RP3, EB3	uc002rhw.3	Q9UPY8	OTTHUMG00000097067	ENST00000233121.2:c.543dupC	2.37:g.27248524_27248524dupC	ENSP00000233121:p.Ala179fs		B7WPK5|O00265|Q6FHB0|Q6FI15|Q9BZP7|Q9BZP8	Frame_Shift_Ins	INS	pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	p.C182fs	ENST00000233121.2	37	c.535_536	CCDS1731.1	2																																																																																			MAPRE3	-	NULL	ENSG00000084764		0.564	MAPRE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPRE3	HGNC	protein_coding	OTTHUMT00000214183.1	92	0.00	0	-	NM_012326		27248516	27248517	+1	no_errors	ENST00000233121	ensembl	human	known	69_37n	frame_shift_ins	63	18.18	14	INS	0.999:1.000	C
MCPH1	79648	genome.wustl.edu	37	8	6335116	6335116	+	Splice_Site	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr8:6335116C>A	ENST00000344683.5	+	10	2013	c.1937C>A	c.(1936-1938)cCa>cAa	p.P646Q		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	646	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AATCTCTAGCCAACAAGAACA	0.284																																					Colon(95;1448 1467 8277 34473 35819)	dbGAP											0													204.0	185.0	191.0					8																	6335116		1819	4077	5896	-	-	-	SO:0001630	splice_region_variant	0			AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.1936-1C>A	8.37:g.6335116C>A			B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Missense_Mutation	SNP	pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.P646Q	ENST00000344683.5	37	c.1937	CCDS43689.1	8	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947488	0.34377	.	.	ENSG00000147316	ENST00000344683	T	0.20332	2.08	4.92	4.92	0.64577	BRCT (1);	0.359631	0.32287	N	0.006317	T	0.48429	0.1499	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.53809	-0.8386	10	0.72032	D	0.01	-20.0709	13.9641	0.64199	0.0:1.0:0.0:0.0	.	646	Q8NEM0	MCPH1_HUMAN	Q	646	ENSP00000342924:P646Q	ENSP00000342924:P646Q	P	+	2	0	MCPH1	6322524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.162000	0.42367	2.430000	0.82344	0.655000	0.94253	CCA	MCPH1	-	smart_BRCT_dom	ENSG00000147316		0.284	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCPH1	HGNC	protein_coding	OTTHUMT00000374532.2	420	0.00	0	C	NM_024596	Missense_Mutation	6335116	6335116	+1	no_errors	ENST00000344683	ensembl	human	known	69_37n	missense	64	38.68	41	SNP	1.000	A
METTL6	131965	genome.wustl.edu	37	3	15455331	15455331	+	Intron	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:15455331G>T	ENST00000443029.1	-	5	914				METTL6_ENST00000450816.2_Intron|METTL6_ENST00000383790.3_Intron			Q8TCB7	METL6_HUMAN	methyltransferase like 6								methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						CACCAGAGAAGGCTTGTGAGC	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK057791	CCDS43056.1	3p25.1	2005-11-02			ENSG00000206562	ENSG00000206562			28343	protein-coding gene	gene with protein product						12477932	Standard	NM_152396		Approved	MGC24132	uc003bzs.1	Q8TCB7	OTTHUMG00000156431	ENST00000443029.1:c.673+196C>A	3.37:g.15455331G>T			Q96LU4	Missense_Mutation	SNP	pfam_Methyltransf_12	p.L154I	ENST00000443029.1	37	c.460	CCDS43056.1	3	.	.	.	.	.	.	.	.	.	.	G	4.224	0.040455	0.08148	.	.	ENSG00000206562	ENST00000453819	T	0.54071	0.59	2.96	-2.82	0.05787	.	.	.	.	.	T	0.35068	0.0919	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31833	-0.9929	6	0.42905	T	0.14	.	0.5664	0.00687	0.3894:0.1773:0.2538:0.1796	.	.	.	.	I	154	ENSP00000412006:L154I	ENSP00000412006:L154I	L	-	1	0	METTL6	15430335	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.292000	0.02772	-0.731000	0.04862	-0.225000	0.12378	CTT	METTL6	-	NULL	ENSG00000206562		0.522	METTL6-007	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	METTL6	HGNC	protein_coding	OTTHUMT00000346373.1	22	0.00	0	G	NM_152396		15455331	15455331	-1	no_start_codon	ENST00000453819	ensembl	human	putative	69_37n	missense	13	27.78	5	SNP	0.000	T
MICAL2	9645	genome.wustl.edu	37	11	12265628	12265628	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:12265628C>G	ENST00000256194.4	+	21	3041	c.2753C>G	c.(2752-2754)tCa>tGa	p.S918*	MICAL2_ENST00000342902.5_Nonsense_Mutation_p.S918*|MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000527546.1_Intron	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	918					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCCTCTCCATCAACTGTTGAC	0.488																																						dbGAP											0													374.0	326.0	342.0					11																	12265628		2201	4294	6495	-	-	-	SO:0001587	stop_gained	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2753C>G	11.37:g.12265628C>G	ENSP00000256194:p.Ser918*		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM	p.S918*	ENST00000256194.4	37	c.2753	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.731351	0.98459	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	.	.	.	5.26	5.26	0.73747	.	0.647571	0.12545	N	0.459599	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.8327	0.92148	0.0:1.0:0.0:0.0	.	.	.	.	X	918	.	ENSP00000256194:S918X	S	+	2	0	MICAL2	12222204	0.103000	0.21917	0.009000	0.14445	0.212000	0.24457	3.663000	0.54518	2.622000	0.88805	0.563000	0.77884	TCA	MICAL2	-	NULL	ENSG00000133816		0.488	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1	950	0.00	0	C	NM_014632		12265628	12265628	+1	no_errors	ENST00000256194	ensembl	human	known	69_37n	nonsense	145	24.87	48	SNP	0.120	G
KMT2B	9757	genome.wustl.edu	37	19	36218387	36218388	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:36218387_36218388insG	ENST00000222270.7	+	16	4166_4167	c.4166_4167insG	c.(4165-4170)acctgcfs	p.C1390fs	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.C1390fs	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1390					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GTGCTGTACACCTGCGGACCGT	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	Exception_encountered	19.37:g.36218387_36218388insG	ENSP00000222270:p.Cys1390fs		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.C1390fs	ENST00000222270.7	37	c.4166_4167	CCDS46055.1	19																																																																																			MLL4	-	pirsf_MeTrfase_trithorax,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000105663		0.639	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Clone_based_vega_gene	protein_coding		64	0.00	0	-	NM_014727		36218387	36218388	+1	no_errors	ENST00000222270	ensembl	human	known	69_37n	frame_shift_ins	9	74.29	26	INS	1.000:0.900	G
MMP3	4314	genome.wustl.edu	37	11	102712906	102712906	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:102712906G>T	ENST00000299855.5	-	4	860	c.604C>A	c.(604-606)Caa>Aaa	p.Q202K		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	202					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TTTGTCCATTGTTCATCATCA	0.393																																						dbGAP											0													137.0	127.0	131.0					11																	102712906		2203	4299	6502	-	-	-	SO:0001583	missense	0			X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.604C>A	11.37:g.102712906G>T	ENSP00000299855:p.Gln202Lys		B2R8B8|Q3B7S0|Q6GRF8	Missense_Mutation	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.Q202K	ENST00000299855.5	37	c.604	CCDS8323.1	11	.	.	.	.	.	.	.	.	.	.	G	0.214	-1.034477	0.02029	.	.	ENSG00000149968	ENST00000299855	T	0.20598	2.06	5.34	-1.84	0.07809	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.605571	0.14140	N	0.338784	T	0.10121	0.0248	N	0.11000	0.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33445	-0.9868	10	0.15952	T	0.53	.	14.1799	0.65566	0.0:0.0896:0.1685:0.742	.	202	P08254	MMP3_HUMAN	K	202	ENSP00000299855:Q202K	ENSP00000299855:Q202K	Q	-	1	0	MMP3	102218116	0.000000	0.05858	0.000000	0.03702	0.471000	0.32888	-0.358000	0.07641	-0.088000	0.12506	-0.188000	0.12872	CAA	MMP3	-	pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo	ENSG00000149968		0.393	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP3	HGNC	protein_coding	OTTHUMT00000109758.2	397	0.25	1	G	NM_002422		102712906	102712906	-1	no_errors	ENST00000299855	ensembl	human	known	69_37n	missense	117	25.32	40	SNP	0.000	T
MRPL51	51258	genome.wustl.edu	37	12	6601615	6601615	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:6601615G>A	ENST00000229238.3	-	3	670	c.209C>T	c.(208-210)cCc>cTc	p.P70L	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|NCAPD2_ENST00000545962.1_5'Flank	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	70					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						CAGTTCTTTGGGGTGCTTTTC	0.443																																						dbGAP											0													191.0	199.0	196.0					12																	6601615		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.209C>T	12.37:g.6601615G>A	ENSP00000229238:p.Pro70Leu		Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	pfam_Ribosomal_L51_mit	p.P70L	ENST00000229238.3	37	c.209	CCDS8547.1	12	.	.	.	.	.	.	.	.	.	.	G	34	5.387755	0.95988	.	.	ENSG00000111639	ENST00000229238	T	0.68479	-0.33	5.66	5.66	0.87406	.	0.048378	0.85682	D	0.000000	D	0.85818	0.5785	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87410	0.2375	10	0.56958	D	0.05	-9.5556	19.3309	0.94288	0.0:0.0:1.0:0.0	.	70	Q4U2R6	RM51_HUMAN	L	70	ENSP00000229238:P70L	ENSP00000229238:P70L	P	-	2	0	MRPL51	6471876	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.379000	0.97198	2.672000	0.90937	0.462000	0.41574	CCC	MRPL51	-	pfam_Ribosomal_L51_mit	ENSG00000111639		0.443	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL51	HGNC	protein_coding	OTTHUMT00000399956.1	404	0.00	0	G	NM_016497		6601615	6601615	-1	no_errors	ENST00000229238	ensembl	human	known	69_37n	missense	90	18.92	21	SNP	1.000	A
MRPS5	64969	genome.wustl.edu	37	2	95767455	95767455	+	Silent	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:95767455C>T	ENST00000272418.2	-	8	985	c.777G>A	c.(775-777)ggG>ggA	p.G259G		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	259	S5 DRBM. {ECO:0000255|PROSITE- ProRule:PRU00268}.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CAGTAGCTTTCCCAATAGAAA	0.338																																						dbGAP											0													44.0	42.0	42.0					2																	95767455		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.777G>A	2.37:g.95767455C>T			Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	NULL	p.G229E	ENST00000272418.2	37	c.686	CCDS2010.1	2																																																																																			MRPS5	-	NULL	ENSG00000144029		0.338	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1	157	0.00	0	C	NM_031902		95767455	95767455	-1	no_errors	ENST00000345084	ensembl	human	known	69_37n	missense	64	18.99	15	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100647276	100647276	+	Missense_Mutation	SNP	C	C	A	rs202226352	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:100647276C>A	ENST00000379442.3	+	5	13861	c.13861C>A	c.(13861-13863)Cct>Act	p.P4621T	MUC12_ENST00000536621.1_Missense_Mutation_p.P4478T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4621	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACACACTTCCCTGACAGCTC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13861C>A	7.37:g.100647276C>A	ENSP00000368755:p.Pro4621Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P4621T	ENST00000379442.3	37	c.13861		7	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811242	0.02798	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14893	2.48;2.47	0.917	-0.282	0.12878	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.35871	-0.9771	6	0.25751	T	0.34	.	1.6623	0.02794	0.3368:0.4106:0.0:0.2526	.	.	.	.	T	4621;4478	ENSP00000368755:P4621T;ENSP00000441929:P4478T	ENSP00000368755:P4621T	P	+	1	0	MUC12	100433996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.639000	0.05446	-0.109000	0.12044	0.430000	0.28490	CCT	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	257	0.00	0	C	XM_379904		100647276	100647276	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	70	12.50	10	SNP	0.001	A
MYH11	4629	genome.wustl.edu	37	16	15802686	15802687	+	Intron	INS	-	-	G	rs111588143	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr16:15802686_15802687insG	ENST00000300036.5	-	41	5896				MYH11_ENST00000452625.2_Frame_Shift_Ins_p.P1940fs|NDE1_ENST00000396355.1_Intron|NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Intron|MYH11_ENST00000576790.2_Frame_Shift_Ins_p.P1933fs|MYH11_ENST00000573908.1_Intron	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle						axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AAGTTTCCTGTGGGGGGGGCCC	0.495			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0									,,,,,	37,4227		0,37,2095					,,,,,	1.7	1.0			33	57,8197		0,57,4070	no	frameshift,intron,intron,intron,intron,frameshift	MYH11,NDE1	NM_022844.2,NM_017668.2,NM_002474.2,NM_001143979.1,NM_001040114.1,NM_001040113.1	,,,,,	0,94,6165	A1A1,A1R,RR		0.6906,0.8677,0.7509	,,,,,	,,,,,		94,12424				-	-	-	SO:0001627	intron_variant	0			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.5787-4706->C	16.37:g.15802694_15802694dupG			D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Frame_Shift_Ins	INS	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.Q1941fs	ENST00000300036.5	37	c.5820_5819	CCDS10565.1	16																																																																																			MYH11	-	NULL	ENSG00000133392		0.495	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	HGNC	protein_coding	OTTHUMT00000252192.2	61	0.00	0	-	NM_001040113		15802686	15802687	-1	no_errors	ENST00000452625	ensembl	human	known	69_37n	frame_shift_ins	47	11.32	6	INS	1.000:1.000	G
MZT2B	80097	genome.wustl.edu	37	2	130948211	130948211	+	3'UTR	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:130948211G>A	ENST00000281871.6	+	0	844				MZT2B_ENST00000409255.1_3'UTR	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B							centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						ATGGGGCAGAGACTTGTTGCA	0.572																																						dbGAP											0													44.0	50.0	48.0					2																	130948211		2172	4280	6452	-	-	-	SO:0001624	3_prime_UTR_variant	0			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.*12G>A	2.37:g.130948211G>A			Q96CG4	Missense_Mutation	SNP	NULL	p.D104N	ENST00000281871.6	37	c.310	CCDS2157.1	2	.	.	.	.	.	.	.	.	.	.	g	7.832	0.720031	0.15372	.	.	ENSG00000152082	ENST00000455239	.	.	.	3.1	-1.64	0.08318	.	.	.	.	.	T	0.08670	0.0215	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32929	-0.9888	5	0.05436	T	0.98	.	2.4378	0.04487	0.1291:0.2707:0.444:0.1561	.	.	.	.	N	104	.	ENSP00000404629:D104N	D	+	1	0	MZT2B	130664681	.	.	0.000000	0.03702	0.164000	0.22412	.	.	-0.242000	0.09667	-0.493000	0.04662	GAC	MZT2B	-	NULL	ENSG00000152082		0.572	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1	10	0.00	0	G	NM_025029		130948211	130948211	+1	no_start_codon	ENST00000455239	ensembl	human	putative	69_37n	missense	8	33.33	4	SNP	0.000	A
NBEAL2	23218	genome.wustl.edu	37	3	47045357	47045357	+	Silent	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:47045357C>T	ENST00000450053.3	+	36	5951	c.5772C>T	c.(5770-5772)gcC>gcT	p.A1924A	NBEAL2_ENST00000292309.5_Silent_p.A1740A|NBEAL2_ENST00000383740.2_Silent_p.A203A	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1924					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGCTGTCGGCCGAGTGCCAGC	0.597																																						dbGAP											0													64.0	76.0	72.0					3																	47045357		2189	4296	6485	-	-	-	SO:0001819	synonymous_variant	0			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.5772C>T	3.37:g.47045357C>T			O60288|Q6P994|Q6UX91|Q8NAC9	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R293*	ENST00000450053.3	37	c.877	CCDS46817.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.19|11.19	1.564828|1.564828	0.27915|0.27915	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000416683|ENST00000443829	.|.	.|.	.|.	4.73|4.73	-9.46|-9.46	0.00597|0.00597	.|.	.|.	.|.	.|.	.|.	T|.	0.44726|.	0.1307|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53049|.	-0.8493|.	4|.	.|.	.|.	.|.	.|.	7.4586|7.4586	0.27280|0.27280	0.0844:0.4331:0.3771:0.1054|0.0844:0.4331:0.3771:0.1054	.|.	.|.	.|.	.|.	L|X	1212|293	.|.	.|.	P|R	+|+	2|1	0|2	NBEAL2|NBEAL2	47020361|47020361	0.008000|0.008000	0.16893|0.16893	0.544000|0.544000	0.28141|0.28141	0.923000|0.923000	0.55619|0.55619	-1.230000|-1.230000	0.02942|0.02942	-1.499000|-1.499000	0.01821|0.01821	-0.340000|-0.340000	0.08031|0.08031	CCG|CGA	NBEAL2	-	NULL	ENSG00000160796		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL2	HGNC	protein_coding	OTTHUMT00000344363.3	185	0.00	0	C	XM_291064		47045357	47045357	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000443829	ensembl	human	novel	69_37n	nonsense	34	32.00	16	SNP	0.860	T
NEK5	341676	genome.wustl.edu	37	13	52701610	52701610	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr13:52701610C>A	ENST00000355568.4	-	3	148	c.9G>T	c.(7-9)aaG>aaT	p.K3N		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	3					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TCACATCGTACTTATCCATGG	0.403																																						dbGAP											0													175.0	167.0	170.0					13																	52701610		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.9G>T	13.37:g.52701610C>A	ENSP00000347767:p.Lys3Asn		Q5TAP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K3N	ENST00000355568.4	37	c.9	CCDS31979.1	13	.	.	.	.	.	.	.	.	.	.	C	9.115	1.007629	0.19199	.	.	ENSG00000197168	ENST00000355568	T	0.23552	1.9	5.35	-2.0	0.07433	Protein kinase-like domain (1);	0.246449	0.33834	N	0.004508	T	0.11623	0.0283	N	0.24115	0.695	0.26061	N	0.981341	B	0.29988	0.264	B	0.24541	0.054	T	0.13980	-1.0489	10	0.33141	T	0.24	.	5.713	0.17945	0.0:0.2381:0.4084:0.3536	.	3	Q6P3R8	NEK5_HUMAN	N	3	ENSP00000347767:K3N	ENSP00000347767:K3N	K	-	3	2	NEK5	51599611	0.908000	0.30866	0.828000	0.32881	0.659000	0.38960	-0.313000	0.08103	-0.474000	0.06862	-1.224000	0.01588	AAG	NEK5	-	superfamily_Kinase-like_dom	ENSG00000197168		0.403	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK5	HGNC	protein_coding	OTTHUMT00000045045.3	295	0.00	0	C	NM_199289		52701610	52701610	-1	no_errors	ENST00000355568	ensembl	human	known	69_37n	missense	169	15.08	30	SNP	0.986	A
NFKBIE	4794	genome.wustl.edu	37	6	44226961	44226961	+	Missense_Mutation	SNP	C	C	G	rs200279830		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:44226961C>G	ENST00000275015.5	-	6	1497	c.1498G>C	c.(1498-1500)Gac>Cac	p.D500H	SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000393810.1_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000537814.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	500					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGGCTTCAGTCGGTACACAGC	0.547																																						dbGAP											0													157.0	162.0	160.0					6																	44226961		2203	4300	6503	-	-	-	SO:0001583	missense	0			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1498G>C	6.37:g.44226961C>G	ENSP00000275015:p.Asp500His		Q5T9V9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D500H	ENST00000275015.5	37	c.1498	CCDS34463.1	6	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020359	0.35606	.	.	ENSG00000146232	ENST00000275015;ENST00000443607	T	0.61158	0.13	4.82	3.89	0.44902	.	0.545147	0.19263	N	0.118638	T	0.36908	0.0984	L	0.27053	0.805	0.31183	N	0.701885	P	0.43431	0.807	P	0.48982	0.597	T	0.31916	-0.9926	10	0.87932	D	0	-35.1539	9.6764	0.40043	0.0:0.8227:0.0:0.1773	.	500	O00221	IKBE_HUMAN	H	500;101	ENSP00000275015:D500H	ENSP00000275015:D500H	D	-	1	0	NFKBIE	44334939	1.000000	0.71417	0.986000	0.45419	0.056000	0.15407	2.802000	0.47916	0.931000	0.37242	-0.367000	0.07326	GAC	NFKBIE	-	NULL	ENSG00000146232		0.547	NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIE	HGNC	protein_coding	OTTHUMT00000040733.2	373	0.00	0	C			44226961	44226961	-1	no_errors	ENST00000275015	ensembl	human	known	69_37n	missense	115	12.21	16	SNP	0.994	G
NKTR	4820	genome.wustl.edu	37	3	42679035	42679036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:42679035_42679036insC	ENST00000232978.8	+	13	2027_2028	c.1839_1840insC	c.(1840-1842)cccfs	p.P614fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	614					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TGAGTGACAGTCCCCCCCCTTC	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.1847dupC	3.37:g.42679043_42679043dupC	ENSP00000232978:p.Pro614fs			Frame_Shift_Ins	INS	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom	p.S616fs	ENST00000232978.8	37	c.1839_1840	CCDS2702.1	3																																																																																			NKTR	-	NULL	ENSG00000114857		0.421	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	90	0.00	0	-	NM_005385		42679035	42679036	+1	no_errors	ENST00000232978	ensembl	human	known	69_37n	frame_shift_ins	82	11.83	11	INS	0.992:1.000	C
NLRP1	22861	genome.wustl.edu	37	17	5436639	5436639	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:5436639T>C	ENST00000572272.1	-	10	3117	c.3118A>G	c.(3118-3120)Att>Gtt	p.I1040V	NLRP1_ENST00000354411.3_Missense_Mutation_p.I1010V|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1040V|NLRP1_ENST00000345221.3_Missense_Mutation_p.I1040V|NLRP1_ENST00000262467.5_Missense_Mutation_p.I1040V|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1010V			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1040					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				atctcagcaattgggaagatc	0.522																																						dbGAP											0													104.0	92.0	96.0					17																	5436639		1327	2309	3636	-	-	-	SO:0001583	missense	0			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3118A>G	17.37:g.5436639T>C	ENSP00000460475:p.Ile1040Val		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.I1040V	ENST00000572272.1	37	c.3118	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.511740	0.00153	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221;ENST00000537069	T;T;T;T;T	0.70986	-0.53;-0.53;-0.47;-0.41;-0.47	0.939	-0.235	0.13071	.	.	.	.	.	T	0.41166	0.1147	N	0.08118	0	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.001;0.0;0.0;0.0;0.0;0.0	T	0.19811	-1.0294	9	0.13108	T	0.6	.	3.0642	0.06209	0.0:0.6096:0.0:0.3904	.	306;1010;1010;1040;1040;1040	F5H042;Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;.;NALP1_HUMAN;.;.	V	1040;1040;1040;1010;1040;306	ENSP00000442029:I1040V;ENSP00000262467:I1040V;ENSP00000269280:I1040V;ENSP00000346390:I1010V;ENSP00000324366:I1040V	ENSP00000262467:I1040V	I	-	1	0	NLRP1	5377363	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.295000	0.19065	-0.055000	0.13244	0.254000	0.18369	ATT	NLRP1	-	NULL	ENSG00000091592		0.522	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	112	0.00	0	T	NM_033004		5436639	5436639	-1	no_errors	ENST00000572272	ensembl	human	known	69_37n	missense	42	57.14	56	SNP	0.001	C
NLRP9	338321	genome.wustl.edu	37	19	56243391	56243391	+	Silent	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr19:56243391A>G	ENST00000332836.2	-	2	1833	c.1806T>C	c.(1804-1806)ttT>ttC	p.F602F		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	602						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGTCATCTGGAAAGATATTCT	0.418																																						dbGAP											0													78.0	74.0	76.0					19																	56243391		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1806T>C	19.37:g.56243391A>G			B2RN12|Q86W27	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.F602	ENST00000332836.2	37	c.1806	CCDS12934.1	19																																																																																			NLRP9	-	NULL	ENSG00000185792		0.418	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP9	HGNC	protein_coding	OTTHUMT00000453653.1	153	0.00	0	A	NM_176820		56243391	56243391	-1	no_errors	ENST00000332836	ensembl	human	known	69_37n	silent	138	37.39	83	SNP	0.001	G
NRCAM	4897	genome.wustl.edu	37	7	107824982	107824982	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:107824982C>A	ENST00000425651.2	-	18	2111	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	NRCAM_ENST00000379022.4_Missense_Mutation_p.Q704H|NRCAM_ENST00000351718.4_Missense_Mutation_p.Q688H|NRCAM_ENST00000379028.3_Missense_Mutation_p.Q704H|NRCAM_ENST00000379024.4_Missense_Mutation_p.Q685H|NRCAM_ENST00000413765.2_Missense_Mutation_p.Q685H	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	704	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GGGCTGTGGTCTGTGTTCCAG	0.527																																						dbGAP											0													96.0	91.0	92.0					7																	107824982		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.2112G>T	7.37:g.107824982C>A	ENSP00000401244:p.Gln704His		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q704H	ENST00000425651.2	37	c.2112	CCDS47686.1	7	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064873	0.36470	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.46	4.58	0.56647	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.466183	0.25584	N	0.029672	T	0.41971	0.1182	M	0.63169	1.94	0.43868	D	0.99647	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.001	B;B;B;B;B	0.15052	0.003;0.006;0.01;0.006;0.012	T	0.25187	-1.0139	10	0.13108	T	0.6	.	10.8497	0.46763	0.0:0.799:0.13:0.071	.	704;685;685;688;704	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	H	704;704;685;704;688;685;704;704;688	ENSP00000368314:Q704H;ENSP00000407858:Q685H;ENSP00000325269:Q688H;ENSP00000368310:Q685H;ENSP00000401244:Q704H;ENSP00000368308:Q704H	ENSP00000325269:Q688H	Q	-	3	2	NRCAM	107612218	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	1.144000	0.31565	1.292000	0.44672	0.591000	0.81541	CAG	NRCAM	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000091129		0.527	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	NRCAM	HGNC	protein_coding	OTTHUMT00000337942.2	153	0.00	0	C	NM_001037132		107824982	107824982	-1	no_errors	ENST00000379028	ensembl	human	known	69_37n	missense	55	36.05	31	SNP	0.989	A
OR6C76	390326	genome.wustl.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																						dbGAP											0													19.0	20.0	19.0					12																	55820959		2110	4120	6230	-	-	-	SO:0001589	frameshift_variant	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs			Frame_Shift_Del	DEL	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K311fs	ENST00000328314.3	37	c.922	CCDS31823.1	12																																																																																			OR6C76	-	NULL	ENSG00000185821		0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	14	0.00	0	A	NM_001005183		55820959	55820959	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	frame_shift_del	28	12.12	4	DEL	0.016	-
OAS3	4940	genome.wustl.edu	37	12	113388650	113388650	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:113388650G>T	ENST00000228928.7	+	7	1706	c.1527G>T	c.(1525-1527)caG>caT	p.Q509H	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	509	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|nucleobase-containing compound metabolic process (GO:0006139)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCTGGTGGCAGGACCAGGTGC	0.592																																						dbGAP											0													68.0	75.0	73.0					12																	113388650		1998	4150	6148	-	-	-	SO:0001583	missense	0			AF063613	CCDS44981.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111331			8088	protein-coding gene	gene with protein product		603351	"""2'-5'-oligoadenylate synthetase 3 (100 kD)"""			9790745	Standard	NM_006187		Approved		uc001tug.3	Q9Y6K5	OTTHUMG00000169795	ENST00000228928.7:c.1527G>T	12.37:g.113388650G>T	ENSP00000228928:p.Gln509His		Q2HJ14|Q9H3P5	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.Q509H	ENST00000228928.7	37	c.1527	CCDS44981.1	12	.	.	.	.	.	.	.	.	.	.	G	3.898	-0.022537	0.07634	.	.	ENSG00000111331	ENST00000228928;ENST00000323881	T	0.08634	3.07	4.26	-3.64	0.04515	.	.	.	.	.	T	0.07143	0.0181	L	0.58669	1.825	0.09310	N	1	B	0.27823	0.19	B	0.26416	0.069	T	0.40136	-0.9579	9	0.18276	T	0.48	.	5.437	0.16486	0.5531:0.0:0.2993:0.1476	.	509	Q9Y6K5	OAS3_HUMAN	H	509;508	ENSP00000228928:Q509H	ENSP00000228928:Q509H	Q	+	3	2	OAS3	111873033	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.171000	0.09883	-1.225000	0.02578	-0.136000	0.14681	CAG	OAS3	-	NULL	ENSG00000111331		0.592	OAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAS3	HGNC	protein_coding	OTTHUMT00000405920.1	81	0.00	0	G			113388650	113388650	+1	no_errors	ENST00000228928	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	0.000	T
PAPOLA	10914	genome.wustl.edu	37	14	96997870	96997870	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr14:96997870G>T	ENST00000216277.8	+	7	774	c.554G>T	c.(553-555)cGa>cTa	p.R185L	PAPOLA_ENST00000557320.1_Missense_Mutation_p.R185L|PAPOLA_ENST00000392990.2_Missense_Mutation_p.R185L|PAPOLA_ENST00000557471.1_Missense_Mutation_p.R185L|PAPOLA_ENST00000554130.1_3'UTR	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	185					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGGATCTACGAGATGACAGT	0.333																																					NSCLC(19;254 734 11908 35501 39234)	dbGAP											0													111.0	101.0	104.0					14																	96997870		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.554G>T	14.37:g.96997870G>T	ENSP00000216277:p.Arg185Leu		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Nonsense_Mutation	SNP	pfam_PolA_pol_cen_dom	p.E71*	ENST00000216277.8	37	c.211	CCDS9946.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462394|3.462394	0.63513|0.63513	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000553461|ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000392990	.|.	.|.	.|.	5.57|5.57	4.68|4.68	0.58851|0.58851	.|Poly(A) polymerase, central domain (1);	.|0.000000	.|0.64402	.|D	.|0.000002	.|T	.|0.44561	.|0.1299	N|N	0.26162|0.26162	0.8|0.8	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B;B;B;B	.|0.28400	.|0.066;0.21;0.041;0.016;0.21	.|B;B;B;B;B	.|0.29267	.|0.028;0.084;0.047;0.011;0.1	.|T	.|0.29274	.|-1.0017	.|9	.|0.21540	.|T	.|0.41	.|.	14.3851|14.3851	0.66940|0.66940	0.0707:0.0:0.9293:0.0|0.0707:0.0:0.9293:0.0	.|.	.|201;201;185;185;201	.|F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.|.;.;PAPOA_HUMAN;.;.	X|L	71|185;185;201;185;185	.|.	.|ENSP00000216277:R185L	E|R	+|+	1|2	0|0	PAPOLA|PAPOLA	96067623|96067623	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.444000|9.444000	0.97578|0.97578	1.370000|1.370000	0.46153|0.46153	0.655000|0.655000	0.94253|0.94253	GAG|CGA	PAPOLA	-	pfam_PolA_pol_cen_dom	ENSG00000090060		0.333	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	662	0.00	0	G			96997870	96997870	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000553461	ensembl	human	putative	69_37n	nonsense	100	23.08	30	SNP	1.000	T
PCDHB16	57717	genome.wustl.edu	37	5	140563393	140563393	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr5:140563393C>T	ENST00000361016.2	+	1	2414	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	420	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATAATATCACCCTCACCGTC	0.453																																						dbGAP											0													104.0	106.0	105.0					5																	140563393		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1259C>T	5.37:g.140563393C>T	ENSP00000354293:p.Thr420Ile		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T420I	ENST00000361016.2	37	c.1259	CCDS4251.1	5	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802470	0.31869	.	.	ENSG00000196963	ENST00000361016	T	0.03358	3.96	4.3	3.43	0.39272	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.13543	0.0328	M	0.87617	2.895	0.35064	D	0.761836	B;P	0.35872	0.392;0.525	B;P	0.46585	0.388;0.521	T	0.03576	-1.1023	9	0.87932	D	0	.	11.6526	0.51297	0.0:0.9113:0.0:0.0887	.	110;420	O15199;Q9NRJ7	.;PCDBG_HUMAN	I	420	ENSP00000354293:T420I	ENSP00000354293:T420I	T	+	2	0	PCDHB16	140543577	0.007000	0.16637	0.982000	0.44146	0.027000	0.11550	0.471000	0.22100	0.796000	0.33947	0.585000	0.79938	ACC	PCDHB16	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196963		0.453	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB16	HGNC	protein_coding	OTTHUMT00000251800.1	121	0.00	0	C	NM_020957		140563393	140563393	+1	no_errors	ENST00000361016	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	0.998	T
PCYT1A	5130	genome.wustl.edu	37	3	195968873	195968873	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr3:195968873C>A	ENST00000292823.2	-	8	826	c.654G>T	c.(652-654)agG>agT	p.R218S	PCYT1A_ENST00000419333.1_Missense_Mutation_p.R218S|PCYT1A_ENST00000431016.1_Missense_Mutation_p.R218S	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	218					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	GCAGGTTCCGCCTCGCATACA	0.498																																						dbGAP											0													139.0	113.0	122.0					3																	195968873		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.654G>T	3.37:g.195968873C>A	ENSP00000292823:p.Arg218Ser		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	pfam_Cytidylyltransf,superfamily_NA-bd_OB-fold-like,tigrfam_Cyt_trans-rel	p.R218S	ENST00000292823.2	37	c.654	CCDS3315.1	3	.	.	.	.	.	.	.	.	.	.	C	16.30	3.084170	0.55861	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591;ENST00000433733;ENST00000430755	.	.	.	5.65	0.663	0.17885	.	0.000000	0.85682	D	0.000000	T	0.66470	0.2792	M	0.71920	2.185	0.54753	D	0.999982	D	0.76494	0.999	D	0.66847	0.947	T	0.63853	-0.6543	9	0.87932	D	0	-24.13	4.9077	0.13806	0.1856:0.5065:0.0:0.3079	.	218	P49585	PCY1A_HUMAN	S	218;218;179;218;218;91;152	.	ENSP00000292823:R218S	R	-	3	2	PCYT1A	197453270	0.009000	0.17119	0.970000	0.41538	0.946000	0.59487	-0.978000	0.03778	0.121000	0.18284	-0.312000	0.09012	AGG	PCYT1A	-	NULL	ENSG00000161217		0.498	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCYT1A	HGNC	protein_coding	OTTHUMT00000341147.1	149	0.67	1	C	NM_005017		195968873	195968873	-1	no_errors	ENST00000292823	ensembl	human	known	69_37n	missense	105	13.93	17	SNP	0.997	A
PHF13	148479	genome.wustl.edu	37	1	6681554	6681554	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:6681554A>C	ENST00000377648.4	+	4	1142	c.760A>C	c.(760-762)Acc>Ccc	p.T254P	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	254					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		TGAGTGCCACACCTGGATTCA	0.522																																						dbGAP											0													80.0	74.0	76.0					1																	6681554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027492	CCDS85.1	1p36.23	2013-01-28			ENSG00000116273	ENSG00000116273		"""Zinc fingers, PHD-type"""	22983	protein-coding gene	gene with protein product							Standard	NM_153812		Approved	MGC43399	uc001aob.4	Q86YI8	OTTHUMG00000001439	ENST00000377648.4:c.760A>C	1.37:g.6681554A>C	ENSP00000366876:p.Thr254Pro		B3KUQ7|Q59FB6|Q5TH65|Q8N551|Q9UJP2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.T254P	ENST00000377648.4	37	c.760	CCDS85.1	1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.709994	0.89018	.	.	ENSG00000116273	ENST00000377648	D	0.85013	-1.93	5.59	5.59	0.84812	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.92270	0.7548	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.85130	0.997	D	0.92767	0.6229	10	0.54805	T	0.06	-0.9033	14.9507	0.71071	1.0:0.0:0.0:0.0	.	254	Q86YI8	PHF13_HUMAN	P	254	ENSP00000366876:T254P	ENSP00000366876:T254P	T	+	1	0	PHF13	6604141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.142000	0.77339	2.122000	0.65172	0.528000	0.53228	ACC	PHF13	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	ENSG00000116273		0.522	PHF13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF13	HGNC	protein_coding	OTTHUMT00000004201.1	88	0.00	0	A	NM_153812		6681554	6681554	+1	no_errors	ENST00000377648	ensembl	human	known	69_37n	missense	22	23.33	7	SNP	1.000	C
PITRM1	10531	genome.wustl.edu	37	10	3189822	3189822	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr10:3189822G>A	ENST00000224949.4	-	19	2211	c.2177C>T	c.(2176-2178)gCa>gTa	p.A726V	PITRM1-AS1_ENST00000441377.1_RNA|PITRM1_ENST00000380994.1_Missense_Mutation_p.A284V|PITRM1_ENST00000380989.2_Missense_Mutation_p.A727V|PITRM1_ENST00000451104.2_Missense_Mutation_p.A628V|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000464395.1_5'UTR			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	726					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GGTCCGGCCTGCCCTGATGGA	0.582																																						dbGAP											0													98.0	107.0	104.0					10																	3189822		1960	4165	6125	-	-	-	SO:0001583	missense	0			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.2177C>T	10.37:g.3189822G>A	ENSP00000224949:p.Ala726Val		B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd	p.A727V	ENST00000224949.4	37	c.2180	CCDS59208.1	10	.	.	.	.	.	.	.	.	.	.	g	22.3	4.270237	0.80469	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000380994;ENST00000451104	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.69	5.69	0.88448	Peptidase M16C associated (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.72317	0.3445	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.978;0.997;0.998;0.998;0.998	T	0.76865	-0.2801	10	0.72032	D	0.01	.	19.8182	0.96579	0.0:0.0:1.0:0.0	.	719;628;727;726;719	E9PDX6;E7ES23;C9JSL2;Q5JRX3;B4DH07	.;.;.;PREP_HUMAN;.	V	726;719;727;284;628	ENSP00000224949:A726V;ENSP00000370377:A727V;ENSP00000370382:A284V;ENSP00000401201:A628V	ENSP00000224949:A726V	A	-	2	0	PITRM1	3179822	1.000000	0.71417	0.151000	0.22473	0.013000	0.08279	9.565000	0.98154	2.700000	0.92200	0.561000	0.74099	GCA	PITRM1	-	pfam_Peptidase_M16C_assoc,superfamily_Metalloenz_metal-bd	ENSG00000107959		0.582	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PITRM1	HGNC	protein_coding	OTTHUMT00000046469.2	71	0.00	0	G			3189822	3189822	-1	no_errors	ENST00000380989	ensembl	human	known	69_37n	missense	30	65.12	56	SNP	1.000	A
PLEKHD1	400224	genome.wustl.edu	37	14	69967295	69967295	+	Splice_Site	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr14:69967295G>T	ENST00000322564.7	+	3	457	c.245G>T	c.(244-246)gGc>gTc	p.G82V		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(1)|endometrium(1)|kidney(2)	4						CTTCCTCAGGGCGTCATCCCT	0.617																																						dbGAP											0													50.0	55.0	53.0					14																	69967295		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.244-1G>T	14.37:g.69967295G>T			B9EJC2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G82V	ENST00000322564.7	37	c.245	CCDS53903.1	14	.	.	.	.	.	.	.	.	.	.	G	23.0	4.368094	0.82463	.	.	ENSG00000175985	ENST00000322564	T	0.77489	-1.1	5.08	5.08	0.68730	.	.	.	.	.	D	0.88815	0.6539	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89571	0.3813	8	.	.	.	.	17.2593	0.87065	0.0:0.0:1.0:0.0	.	82	B9EJC2	.	V	82	ENSP00000317175:G82V	.	G	+	2	0	PLEKHD1	69037048	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.971000	0.76105	2.375000	0.81037	0.561000	0.74099	GGC	PLEKHD1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000175985		0.617	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	80	0.00	0	G	NM_001161498	Missense_Mutation	69967295	69967295	+1	no_errors	ENST00000322564	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	T
PPM1E	22843	genome.wustl.edu	37	17	56833490	56833490	+	Silent	SNP	G	G	A	rs59676153		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:56833490G>A	ENST00000308249.2	+	1	261	c.132G>A	c.(130-132)gaG>gaA	p.E44E		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			ccgaacccgagtccgagcccg	0.706																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.132G>A	17.37:g.56833490G>A			Q8N8J9|Q96DB8	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.E44	ENST00000308249.2	37	c.132	CCDS11613.1	17																																																																																			PPM1E	-	NULL	ENSG00000175175		0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	21	0.00	0	G	NM_014906		56833490	56833490	+1	no_errors	ENST00000308249	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	0.898	A
PRMT3	10196	genome.wustl.edu	37	11	20529900	20529900	+	Missense_Mutation	SNP	C	C	T	rs146465935		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:20529900C>T	ENST00000331079.6	+	16	1754	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	PRMT3_ENST00000437750.2_Missense_Mutation_p.R451C	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	513	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|negative regulation of protein ubiquitination (GO:0031397)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ribosome (GO:0005840)	histone-arginine N-methyltransferase activity (GO:0008469)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|modified amino acid binding (GO:0072341)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GAAAGATCCACGTTCTCTCAC	0.393																																						dbGAP											0													103.0	94.0	97.0					11																	20529900		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF059531	CCDS7853.1, CCDS44554.1	11p15.1	2008-02-05	2006-02-16	2006-02-16	ENSG00000185238	ENSG00000185238		"""Protein arginine methyltransferases"""	30163	protein-coding gene	gene with protein product		603190	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"""	HRMT1L3		9642256	Standard	NM_005788		Approved		uc001mqb.3	O60678	OTTHUMG00000166022	ENST00000331079.6:c.1537C>T	11.37:g.20529900C>T	ENSP00000331879:p.Arg513Cys		B4DUC7	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_mo5U34_MeTrfase,pfam_Methyltransf_11,pfam_Arg_MeTrfase,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.R513C	ENST00000331079.6	37	c.1537	CCDS7853.1	11	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377168	0.82682	.	.	ENSG00000185238	ENST00000331079;ENST00000437750	D;D	0.91521	-2.86;-2.86	5.67	5.67	0.87782	.	0.093354	0.64402	D	0.000001	D	0.96864	0.8976	H	0.96269	3.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.97754	1.0216	10	0.87932	D	0	-14.1411	15.2864	0.73831	0.0:1.0:0.0:0.0	.	451;513	O60678-2;O60678	.;ANM3_HUMAN	C	513;451	ENSP00000331879:R513C;ENSP00000397766:R451C	ENSP00000331879:R513C	R	+	1	0	PRMT3	20486476	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.919000	0.48836	2.665000	0.90641	0.655000	0.94253	CGT	PRMT3	-	NULL	ENSG00000185238		0.393	PRMT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT3	HGNC	protein_coding	OTTHUMT00000387489.1	177	0.00	0	C	NM_005788		20529900	20529900	+1	no_errors	ENST00000331079	ensembl	human	known	69_37n	missense	51	50.00	51	SNP	1.000	T
PRRG3	79057	genome.wustl.edu	37	X	150869481	150869481	+	Silent	SNP	C	C	A	rs376614111		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:150869481C>A	ENST00000370353.3	+	4	1062	c.672C>A	c.(670-672)gcC>gcA	p.A224A	PRRG3_ENST00000538575.1_Silent_p.A224A			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	224						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGATAGTGGCCGCCAACCCTG	0.552																																						dbGAP											0													86.0	77.0	80.0					X																	150869481		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.672C>A	X.37:g.150869481C>A			A1A523|A1A575|Q8N2N6	Silent	SNP	pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain	p.A224	ENST00000370353.3	37	c.672	CCDS14699.1	X																																																																																			PRRG3	-	NULL	ENSG00000130032		0.552	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRG3	HGNC	protein_coding	OTTHUMT00000060880.1	134	0.00	0	C	NM_024082		150869481	150869481	+1	no_errors	ENST00000370353	ensembl	human	known	69_37n	silent	55	35.29	30	SNP	0.048	A
PTPRB	5787	genome.wustl.edu	37	12	70954712	70954712	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:70954712G>T	ENST00000261266.5	-	15	3546	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	PTPRB_ENST00000451516.2_Missense_Mutation_p.P1083T|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1303T|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1083T|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1083T|PTPRB_ENST00000334414.6_Missense_Mutation_p.P1391T|PTPRB_ENST00000551525.1_Missense_Mutation_p.P1390T	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1173	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P1173S(2)|p.P1391S(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACAGAGGCTGGGACTTAAACA	0.473																																						dbGAP											3	Substitution - Missense(3)	lung(3)											98.0	91.0	93.0					12																	70954712		1893	4103	5996	-	-	-	SO:0001583	missense	0			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3517C>A	12.37:g.70954712G>T	ENSP00000261266:p.Pro1173Thr		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.P1391T	ENST00000261266.5	37	c.4171	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	g	20.8	4.058256	0.76074	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.15372	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43	5.23	5.23	0.72850	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	M	0.84326	2.69	0.80722	D	1	P;P;P;D;D;P;D	0.76494	0.862;0.749;0.581;0.999;0.99;0.929;0.99	P;P;B;D;D;P;D	0.74674	0.862;0.862;0.234;0.984;0.945;0.821;0.945	T	0.49835	-0.8897	10	0.51188	T	0.08	.	18.7976	0.92001	0.0:0.0:1.0:0.0	.	1083;1083;1270;1390;1391;1173;1303	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	T	1391;1083;1303;1083;1083;1173;1390;1270	ENSP00000334928:P1391T;ENSP00000393028:P1083T;ENSP00000448058:P1303T;ENSP00000438927:P1083T;ENSP00000447302:P1083T;ENSP00000261266:P1173T;ENSP00000448349:P1390T;ENSP00000446982:P1270T	ENSP00000261266:P1173T	P	-	1	0	PTPRB	69240979	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.103000	0.94232	2.421000	0.82119	0.558000	0.71614	CCA	PTPRB	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000127329		0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	HGNC	protein_coding	OTTHUMT00000404439.1	126	0.79	1	G			70954712	70954712	-1	no_errors	ENST00000334414	ensembl	human	known	69_37n	missense	101	43.58	78	SNP	1.000	T
PUF60	22827	genome.wustl.edu	37	8	144898861	144898861	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr8:144898861delT	ENST00000526683.1	-	12	2064	c.1509delA	c.(1507-1509)caafs	p.Q503fs	SCRIB_ENST00000320476.3_5'Flank|SCRIB_ENST00000377533.3_5'Flank|PUF60_ENST00000524570.1_5'Flank|PUF60_ENST00000313352.7_Frame_Shift_Del_p.Q443fs|SCRIB_ENST00000356994.2_5'Flank|PUF60_ENST00000456095.2_Frame_Shift_Del_p.Q474fs|PUF60_ENST00000349157.6_Frame_Shift_Del_p.Q486fs|PUF60_ENST00000527197.1_Frame_Shift_Del_p.Q457fs|PUF60_ENST00000453551.2_Frame_Shift_Del_p.Q460fs	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	503	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCTCCTCGCCTTGTTTCTCTT	0.537																																						dbGAP											0													320.0	337.0	331.0					8																	144898861		2098	4217	6315	-	-	-	SO:0001589	frameshift_variant	0			AF114818	CCDS47933.1, CCDS47934.1, CCDS47935.1, CCDS59514.1, CCDS59515.1, CCDS59516.1	8q24.3	2013-02-12	2007-07-27		ENSG00000179950	ENSG00000179950		"""RNA binding motif (RRM) containing"""	17042	protein-coding gene	gene with protein product	"""siah binding protein 1"", ""FBP interacting repressor"", ""pyrimidine tract binding splicing factor"", ""Ro ribonucleoprotein binding protein 1"""	604819				10668799, 10882074, 17579712	Standard	NM_078480		Approved	FIR, SIAHBP1, RoBPI	uc003yzs.4	Q9UHX1	OTTHUMG00000165155	ENST00000526683.1:c.1509delA	8.37:g.144898861delT	ENSP00000434359:p.Gln503fs		A8K8K8|Q969E7|Q96D94|Q96H63|Q99628|Q9NZA0|Q9UJY7	Frame_Shift_Del	DEL	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd	p.G504fs	ENST00000526683.1	37	c.1509	CCDS47934.1	8																																																																																			PUF60	-	smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000179950		0.537	PUF60-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PUF60	HGNC	protein_coding	OTTHUMT00000382222.1	351	0.00	0	T	NM_014281		144898861	144898861	-1	no_errors	ENST00000526683	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
REG3G	130120	genome.wustl.edu	37	2	79253897	79253898	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:79253897_79253898GG>AT	ENST00000272324.5	+	3	319_320	c.135_136GG>AT	c.(133-138)aaGGcc>aaATcc	p.A46S	REG3G_ENST00000393897.2_Missense_Mutation_p.A46S|REG3G_ENST00000409471.1_Missense_Mutation_p.A46S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	46					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCTCCAAGGCCTATGGCTC	0.515																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	Exception_encountered	2.37:g.79253897_79253898delinsAT	ENSP00000272324:p.Ala46Ser		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent|Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Pancreatis_ac	p.K45|p.A46S	ENST00000272324.5	37	c.135|c.136	CCDS1962.1	2																																																																																			REG3G	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_Pancreatis_ac	ENSG00000143954		0.515	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	REG3G	HGNC	protein_coding	OTTHUMT00000328247.1	624|622	0.00	0	G	NM_198448		79253897|79253898	79253897|79253898	+1	no_errors	ENST00000272324	ensembl	human	known	69_37n	silent|missense	216	15.62	40	SNP	0.000|0.001	A|T
SAMD3	154075	genome.wustl.edu	37	6	130466530	130466530	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:130466530A>T	ENST00000368134.2	-	13	1841	c.1233T>A	c.(1231-1233)gaT>gaA	p.D411E	SAMD3_ENST00000439090.2_Missense_Mutation_p.D411E|SAMD3_ENST00000457563.2_Missense_Mutation_p.D435E|RP11-73O6.3_ENST00000415964.1_RNA|RP11-73O6.3_ENST00000609978.1_RNA|SAMD3_ENST00000437477.2_Missense_Mutation_p.D411E	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	411										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CCCCAAAAACATCTGGGAGGA	0.368																																						dbGAP											0													104.0	91.0	95.0					6																	130466530		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1233T>A	6.37:g.130466530A>T	ENSP00000357116:p.Asp411Glu		B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.D411E	ENST00000368134.2	37	c.1233	CCDS34539.1	6	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929116	0.52759	.	.	ENSG00000164483	ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	T;T;T;T	0.42513	0.98;0.97;0.98;0.98	5.21	5.21	0.72293	.	0.199026	0.35378	N	0.003241	T	0.18045	0.0433	L	0.59436	1.845	0.80722	D	1	B	0.18013	0.025	B	0.15870	0.014	T	0.07520	-1.0768	10	0.06757	T	0.87	.	11.2603	0.49078	0.8479:0.1521:0.0:0.0	.	411	Q8N6K7	SAMD3_HUMAN	E	411;435;411;411	ENSP00000357116:D411E;ENSP00000402092:D435E;ENSP00000403565:D411E;ENSP00000391163:D411E	ENSP00000357116:D411E	D	-	3	2	SAMD3	130508223	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.264000	0.33015	2.094000	0.63399	0.455000	0.32223	GAT	SAMD3	-	NULL	ENSG00000164483		0.368	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMD3	HGNC	protein_coding	OTTHUMT00000042197.3	232	0.00	0	A	NM_152552		130466530	130466530	-1	no_errors	ENST00000368134	ensembl	human	known	69_37n	missense	94	50.26	95	SNP	1.000	T
SERPINA1	5265	genome.wustl.edu	37	14	94849571	94849571	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr14:94849571G>C	ENST00000448921.1	-	4	576	c.4C>G	c.(4-6)Ccg>Gcg	p.P2A	SERPINA1_ENST00000393088.4_Missense_Mutation_p.P2A|SERPINA1_ENST00000404814.4_Missense_Mutation_p.P2A|SERPINA1_ENST00000437397.1_Missense_Mutation_p.P2A|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000440909.1_Missense_Mutation_p.P2A|SERPINA1_ENST00000393087.4_Missense_Mutation_p.P2A|SERPINA1_ENST00000449399.3_Missense_Mutation_p.P2A|SERPINA1_ENST00000355814.4_Missense_Mutation_p.P2A|SERPINA1_ENST00000402629.1_Missense_Mutation_p.P2A	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	2					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		ACAGAAGACGGCATTGTCCTG	0.622																																						dbGAP											0													38.0	36.0	37.0					14																	94849571		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.4C>G	14.37:g.94849571G>C	ENSP00000416066:p.Pro2Ala		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.P2A	ENST00000448921.1	37	c.4	CCDS9925.1	14	.	.	.	.	.	.	.	.	.	.	G	4.620	0.115315	0.08831	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000556091;ENST00000557492;ENST00000556955;ENST00000553327;ENST00000557118	D;D;D;D;D;D;D;D;T;T;D;D;D;T	0.86956	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.42;-1.44;-1.57;-1.96;-2.19;-1.34	5.94	0.62	0.17637	.	0.784158	0.11334	N	0.574760	T	0.79197	0.4405	L	0.29908	0.895	0.19300	N	0.999976	B;B	0.20164	0.02;0.042	B;B	0.26614	0.043;0.071	T	0.64257	-0.6450	10	0.31617	T	0.26	.	9.2521	0.37562	0.0:0.3915:0.3398:0.2687	.	2;2	P01009-2;P01009	.;A1AT_HUMAN	A	2	ENSP00000390299:P2A;ENSP00000416066:P2A;ENSP00000408474:P2A;ENSP00000348068:P2A;ENSP00000376802:P2A;ENSP00000376803:P2A;ENSP00000385960:P2A;ENSP00000416354:P2A;ENSP00000386094:P2A;ENSP00000452169:P2A;ENSP00000452452:P2A;ENSP00000451098:P2A;ENSP00000452480:P2A;ENSP00000451826:P2A	ENSP00000348068:P2A	P	-	1	0	SERPINA1	93919324	0.032000	0.19561	0.546000	0.28166	0.084000	0.17831	-0.227000	0.09126	0.094000	0.17404	-0.397000	0.06425	CCG	SERPINA1	-	NULL	ENSG00000197249		0.622	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA1	HGNC	protein_coding	OTTHUMT00000317768.2	114	0.00	0	G	NM_001002235		94849571	94849571	-1	no_errors	ENST00000355814	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.756	C
SETD1B	23067	genome.wustl.edu	37	12	122242657	122242658	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:122242657_122242658insC	ENST00000604567.1	+	2	82_83	c.14_15insC	c.(13-18)caccccfs	p.HP5fs	RP11-347I19.8_ENST00000609067.1_lincRNA|RHOF_ENST00000545544.1_5'Flank|SETD1B_ENST00000267197.5_Frame_Shift_Ins_p.HP5fs|SETD1B_ENST00000542440.1_Frame_Shift_Ins_p.HP5fs			Q9UPS6	SET1B_HUMAN	SET domain containing 1B	5					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.H8fs*27(2)		NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						GAGAACAGTCACCCCCCCCACC	0.629																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)								9,1819		1,7,906						1.9	1.0			42	13,3745		3,7,1869	no	frameshift	SETD1B	NM_015048.1		4,14,2775	A1A1,A1R,RR		0.3459,0.4923,0.3938				22,5564				-	-	-	SO:0001589	frameshift_variant	0			AB028999	CCDS53838.1	12q24.31	2013-02-12			ENSG00000139718	ENSG00000139718		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29187	protein-coding gene	gene with protein product		611055				10470851, 17355966	Standard	NM_015048		Approved	KIAA1076, Set1B, KMT2G	uc001ubi.3	Q9UPS6	OTTHUMG00000169080	ENST00000604567.1:c.22dupC	12.37:g.122242665_122242665dupC	ENSP00000474253:p.His5fs		F6MFW1	Frame_Shift_Ins	INS	pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom	p.H8fs	ENST00000604567.1	37	c.14_15		12																																																																																			SETD1B	-	NULL	ENSG00000139718		0.629	SETD1B-002	PUTATIVE	non_canonical_U12|basic|appris_candidate_longest	protein_coding	SETD1B	HGNC	protein_coding	OTTHUMT00000468264.1	54	0.00	0	-	XM_037523		122242657	122242658	+1	no_errors	ENST00000267197	ensembl	human	known	69_37n	frame_shift_ins	23	14.81	4	INS	1.000:1.000	C
SGK2	10110	genome.wustl.edu	37	20	42204866	42204866	+	Silent	SNP	G	G	A	rs551828538	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr20:42204866G>A	ENST00000341458.4	+	10	1095	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SGK2_ENST00000373077.1_Silent_p.P231P|SGK2_ENST00000423407.3_Silent_p.P232P|SGK2_ENST00000373092.3_Silent_p.P232P|SGK2_ENST00000373100.1_Silent_p.P232P|SGK2_ENST00000426287.1_Silent_p.P258P	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CTCCCCAGCCGCCCTTCTACA	0.597													G|||	4	0.000798722	0.0	0.0	5008	,	,		16250	0.0		0.0	False		,,,				2504	0.0041					dbGAP											0													135.0	134.0	134.0					20																	42204866		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.876G>A	20.37:g.42204866G>A			Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.P292	ENST00000341458.4	37	c.876	CCDS13320.1	20																																																																																			SGK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000101049		0.597	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	120	0.00	0	G			42204866	42204866	+1	no_errors	ENST00000341458	ensembl	human	known	69_37n	silent	23	29.73	11	SNP	0.281	A
SHANK3	85358	genome.wustl.edu	37	22	51159933	51159933	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr22:51159933delG	ENST00000414786.2	+	21	3857	c.3630delG	c.(3628-3630)ctgfs	p.L1210fs	SHANK3_ENST00000262795.3_Frame_Shift_Del_p.L1240fs|SHANK3_ENST00000445220.2_Frame_Shift_Del_p.L1226fs			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	1224					adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAGCAGGCTGGGGGGGGCCG	0.721																																						dbGAP											0										32,49,3135		5,1,21,6,36,1539	10.0	11.0	11.0			3.5	1.0	22		11	90,87,6825		3,0,84,5,77,3332	no	codingComplex	SHANK3	NM_001080420.1		8,1,105,11,113,4871	A1A1,A1A2,A1R,A2A2,A2R,RR		2.5278,2.5187,2.525			51159933	122,136,9960	1773	3829	5602	-	-	-	SO:0001589	frameshift_variant	0			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.3630delG	22.37:g.51159933delG	ENSP00000464552:p.Leu1210fs		D7UT47|Q8TET3	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.A1243fs	ENST00000414786.2	37	c.3720		22																																																																																			SHANK3	-	NULL	ENSG00000251322		0.721	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	12	0.00	0	G	NM_001080420		51159933	51159933	+1	no_errors	ENST00000262795	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.979	-
SLC16A2	6567	genome.wustl.edu	37	X	73641302	73641303	+	5'UTR	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:73641302_73641303insG	ENST00000587091.1	+	0	7_8				SLC16A2_ENST00000276033.5_Frame_Shift_Ins_p.R18fs	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)						monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	agagggCTCGAGGGACCGTCTG	0.713																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.-170->G	X.37:g.73641305_73641305dupG			Q7Z797	Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D19fs	ENST00000587091.1	37	c.52_53	CCDS14426.2	X																																																																																			SLC16A2	-	NULL	ENSG00000147100		0.713	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	33	0.00	0	-			73641302	73641303	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	1.000:1.000	G
SLC4A3	6508	genome.wustl.edu	37	2	220494110	220494111	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:220494110_220494111insC	ENST00000358055.3	+	4	974_975	c.462_463insC	c.(463-465)cccfs	p.P155fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.P155fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.P155fs|AC009955.8_ENST00000455896.1_RNA|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.P155fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.P155fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	155	Pro-rich.				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCTGTGGAGCCCCCCCACTC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.469dupC	2.37:g.220494117_220494117dupC	ENSP00000350756:p.Pro155fs		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.H156fs	ENST00000358055.3	37	c.462_463	CCDS2445.1	2																																																																																			SLC4A3	-	prints_Anion_exchange_3	ENSG00000114923		0.629	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	89	0.00	0	-	NM_005070		220494110	220494111	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	frame_shift_ins	30	25.00	10	INS	0.015:0.049	C
SLC4A4	8671	genome.wustl.edu	37	4	72432765	72432765	+	3'UTR	SNP	T	T	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr4:72432765T>A	ENST00000264485.5	+	0	3358				SLC4A4_ENST00000425175.1_Missense_Mutation_p.D1048E|SLC4A4_ENST00000340595.3_3'UTR|SLC4A4_ENST00000351898.6_3'UTR	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ATCATGCTGATAAAATTCCTT	0.353																																						dbGAP											0													148.0	134.0	139.0					4																	72432765		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.*1T>A	4.37:g.72432765T>A			C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.D1048E	ENST00000264485.5	37	c.3144	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	T	5.190	0.220664	0.09863	.	.	ENSG00000080493	ENST00000425175	T	0.78246	-1.16	5.6	4.35	0.52113	.	.	.	.	.	T	0.53190	0.1781	N	0.05441	-0.05	0.31732	N	0.636881	B	0.02656	0.0	B	0.01281	0.0	T	0.49351	-0.8949	9	0.02654	T	1	.	9.7706	0.40587	0.2662:0.0:0.0:0.7338	.	1048	A5JJ20	.	E	1048	ENSP00000393557:D1048E	ENSP00000393557:D1048E	D	+	3	2	SLC4A4	72651629	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.878000	0.28126	2.141000	0.66446	0.383000	0.25322	GAT	SLC4A4	-	NULL	ENSG00000080493		0.353	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	378	0.00	0	T	NM_003759		72432765	72432765	+1	no_errors	ENST00000425175	ensembl	human	known	69_37n	missense	229	17.03	47	SNP	1.000	A
SYT4	6860	genome.wustl.edu	37	18	40853980	40853980	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr18:40853980A>T	ENST00000255224.3	-	2	782	c.414T>A	c.(412-414)agT>agA	p.S138R	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.S120R	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	138					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TGGACTTTAAACTCTCAGGGG	0.443																																					NSCLC(85;81 1419 2855 22820 35912)	dbGAP											0													60.0	60.0	60.0					18																	40853980		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.414T>A	18.37:g.40853980A>T	ENSP00000255224:p.Ser138Arg		B4DEU3|Q9P2K4	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.S138R	ENST00000255224.3	37	c.414	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636298	0.47049	.	.	ENSG00000132872	ENST00000255224	T	0.39229	1.09	5.87	2.9	0.33743	.	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.57536	1.79	0.58432	D	0.999994	D;D	0.60575	0.988;0.988	P;P	0.53313	0.723;0.723	T	0.31392	-0.9945	10	0.16896	T	0.51	.	10.2321	0.43260	0.296:0.0:0.704:0.0	.	120;138	B4DEU3;Q9H2B2	.;SYT4_HUMAN	R	138	ENSP00000255224:S138R	ENSP00000255224:S138R	S	-	3	2	SYT4	39107978	1.000000	0.71417	0.989000	0.46669	0.957000	0.61999	1.729000	0.38115	0.379000	0.24794	-0.408000	0.06270	AGT	SYT4	-	NULL	ENSG00000132872		0.443	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	218	0.00	0	A	NM_020783		40853980	40853980	-1	no_errors	ENST00000255224	ensembl	human	known	69_37n	missense	129	27.53	49	SNP	0.995	T
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	19	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	0.994	A
TCERG1	10915	genome.wustl.edu	37	5	145859431	145859431	+	Silent	SNP	G	G	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr5:145859431G>A	ENST00000296702.5	+	11	1814	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	TCERG1_ENST00000394421.2_Silent_p.P571P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	592					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCAACTCCGACAATGCTGT	0.323																																						dbGAP											0													44.0	45.0	45.0					5																	145859431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.1776G>A	5.37:g.145859431G>A			Q2NKN2|Q59EA1	Silent	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P592	ENST00000296702.5	37	c.1776	CCDS4282.1	5																																																																																			TCERG1	-	NULL	ENSG00000113649		0.323	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	HGNC	protein_coding	OTTHUMT00000251886.1	91	0.00	0	G	NM_001040006		145859431	145859431	+1	no_errors	ENST00000296702	ensembl	human	known	69_37n	silent	41	38.24	26	SNP	0.948	A
TCHHL1	126637	genome.wustl.edu	37	1	152058564	152058564	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:152058564C>T	ENST00000368806.1	-	3	1658	c.1594G>A	c.(1594-1596)Ggg>Agg	p.G532R		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	532							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGTCCTCCCCCTGGTAACCA	0.507																																						dbGAP											0													133.0	122.0	125.0					1																	152058564		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.1594G>A	1.37:g.152058564C>T	ENSP00000357796:p.Gly532Arg		B2RPK8|Q5VTJ9	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub	p.G532R	ENST00000368806.1	37	c.1594	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	9.341	1.062991	0.19987	.	.	ENSG00000182898	ENST00000368806	T	0.32515	1.45	5.45	-1.04	0.10068	.	0.626303	0.13439	N	0.387854	T	0.05593	0.0147	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43556	-0.9384	10	0.17832	T	0.49	-0.0045	8.7559	0.34645	0.0:0.4499:0.0:0.5501	.	532	Q5QJ38	TCHL1_HUMAN	R	532	ENSP00000357796:G532R	ENSP00000357796:G532R	G	-	1	0	TCHHL1	150325188	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.062000	0.14389	-0.227000	0.09884	-1.000000	0.02509	GGG	TCHHL1	-	NULL	ENSG00000182898		0.507	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	114	0.00	0	C	XM_060104		152058564	152058564	-1	no_errors	ENST00000368806	ensembl	human	known	69_37n	missense	180	39.60	118	SNP	0.000	T
TFE3	7030	genome.wustl.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs	TFE3_ENST00000487451.1_5'Flank	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																	dbGAP		Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1446dupG	X.37:g.48887959_48887959dupC	ENSP00000314129:p.Gly482fs		A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Frame_Shift_Ins	INS	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.P483fs	ENST00000315869.7	37	c.1446_1445	CCDS14315.3	X																																																																																			TFE3	-	pfam_bHLH_ZIP_TF_MiT/TFE	ENSG00000068323		0.649	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	89	0.00	0	-	NM_006521		48887951	48887952	-1	no_errors	ENST00000315869	ensembl	human	known	69_37n	frame_shift_ins	86	12.24	12	INS	0.035:0.037	C
TLR4	7099	genome.wustl.edu	37	9	120475977	120475977	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr9:120475977T>A	ENST00000355622.6	+	3	1672	c.1571T>A	c.(1570-1572)gTa>gAa	p.V524E	TLR4_ENST00000394487.4_Missense_Mutation_p.V484E|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	524					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGTCTTCAGGTACTAAATATG	0.423																																						dbGAP											0													91.0	83.0	86.0					9																	120475977		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1571T>A	9.37:g.120475977T>A	ENSP00000363089:p.Val524Glu		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.V524E	ENST00000355622.6	37	c.1571	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.770514	0.00645	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.00949	5.51;5.51	5.82	-0.9	0.10544	.	1.137390	0.06571	N	0.748586	T	0.00608	0.0020	N	0.11789	0.175	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44742	-0.9308	10	0.06494	T	0.89	.	4.4493	0.11612	0.316:0.2135:0.0:0.4705	.	524	O00206	TLR4_HUMAN	E	484;524	ENSP00000377997:V484E;ENSP00000363089:V524E	ENSP00000363089:V524E	V	+	2	0	TLR4	119515798	0.000000	0.05858	0.000000	0.03702	0.201000	0.24016	0.030000	0.13688	-0.088000	0.12506	0.528000	0.53228	GTA	TLR4	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136869		0.423	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	265	0.00	0	T	NM_138554		120475977	120475977	+1	no_errors	ENST00000355622	ensembl	human	known	69_37n	missense	46	41.77	33	SNP	0.000	A
TNFRSF21	27242	genome.wustl.edu	37	6	47202544	47202544	+	Missense_Mutation	SNP	C	C	T	rs144276547		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:47202544C>T	ENST00000296861.2	-	5	1993	c.1600G>A	c.(1600-1602)Gct>Act	p.A534T		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	534					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GTCAGGAGAGCGGAATTCTCA	0.602																																						dbGAP											0													38.0	37.0	38.0					6																	47202544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.1600G>A	6.37:g.47202544C>T	ENSP00000296861:p.Ala534Thr		B2RDI9|Q0D2P5|Q96D86	Missense_Mutation	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.A534T	ENST00000296861.2	37	c.1600	CCDS4921.1	6	.	.	.	.	.	.	.	.	.	.	C	0.160	-1.082432	0.01888	.	.	ENSG00000146072	ENST00000296861;ENST00000419206	T	0.64618	-0.11	4.77	0.774	0.18521	.	0.509330	0.23263	N	0.050120	T	0.11452	0.0279	N	0.12182	0.205	0.22541	N	0.999003	B	0.11235	0.004	B	0.04013	0.001	T	0.34204	-0.9838	10	0.02654	T	1	.	4.3602	0.11199	0.1477:0.3325:0.0:0.5198	.	534	O75509	TNR21_HUMAN	T	534;223	ENSP00000296861:A534T	ENSP00000296861:A534T	A	-	1	0	TNFRSF21	47310503	0.864000	0.29904	0.947000	0.38551	0.190000	0.23558	0.849000	0.27723	0.272000	0.22027	-0.672000	0.03802	GCT	TNFRSF21	-	NULL	ENSG00000146072		0.602	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	79	0.00	0	C	NM_014452		47202544	47202544	-1	no_errors	ENST00000296861	ensembl	human	known	69_37n	missense	47	32.86	23	SNP	0.647	T
TP53	7157	genome.wustl.edu	37	17	7577531	7577531	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:7577531delG	ENST00000269305.4	-	7	939	c.750delC	c.(748-750)cccfs	p.P250fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.P250fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P250fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P250fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.P250P(4)|p.P250L(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.N247_P250delNRRP(1)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.P250_I251insXXXXXX(1)|p.P250_I251insXXXXXXX(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.I251fs*96(1)|p.R249_T256delRPILTIIT(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGTGAGGATGGGCCTCCGGT	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	36	Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Substitution - Missense(4)|Substitution - coding silent(4)|Insertion - In frame(3)|Insertion - Frameshift(2)	biliary_tract(5)|breast(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|skin(3)|genital_tract(1)|peritoneum(1)|oesophagus(1)|lung(1)|ovary(1)											154.0	112.0	126.0					17																	7577531		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.750delC	17.37:g.7577531delG	ENSP00000269305:p.Pro250fs		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.I251fs	ENST00000269305.4	37	c.750	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	92	0.00	0	G	NM_000546		7577531	7577531	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	52	32.47	25	DEL	1.000	-
TPH2	121278	genome.wustl.edu	37	12	72388264	72388264	+	Silent	SNP	T	T	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr12:72388264T>C	ENST00000333850.3	+	8	1128	c.987T>C	c.(985-987)gaT>gaC	p.D329D		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	329					aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TACTTGCGGATCCTAAGTTTG	0.408																																						dbGAP											0													156.0	152.0	154.0					12																	72388264		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.987T>C	12.37:g.72388264T>C			A6NGA4|Q14CB0	Silent	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase	p.D329	ENST00000333850.3	37	c.987	CCDS31859.1	12																																																																																			TPH2	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase	ENSG00000139287		0.408	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	HGNC	protein_coding	OTTHUMT00000405234.1	356	0.00	0	T	NM_173353		72388264	72388264	+1	no_errors	ENST00000333850	ensembl	human	known	69_37n	silent	130	14.47	22	SNP	0.995	C
TRIM29	23650	genome.wustl.edu	37	11	119996559	119996560	+	Frame_Shift_Ins	INS	-	-	G	rs200991578		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:119996559_119996560insG	ENST00000341846.5	-	4	1593_1594	c.1172_1173insC	c.(1171-1173)ccafs	p.P391fs	TRIM29_ENST00000529044.1_Frame_Shift_Ins_p.P130fs|TRIM29_ENST00000524816.3_5'Flank|TRIM29_ENST00000528870.1_5'Flank|TRIM29_ENST00000541857.1_Frame_Shift_Ins_p.P124fs	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	391					negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TGGGCAGGGGTGGGGGGAGAGA	0.53																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF230388	CCDS8428.1	11q23.3	2011-04-20	2011-01-25		ENSG00000137699	ENSG00000137699		"""Tripartite motif containing / Tripartite motif containing"""	17274	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM29"", ""ataxia-telangiectasia group D-associated protein"""	610658	"""tripartite motif-containing 29"""			11331580	Standard	NM_012101		Approved	ATDC, FLJ36085	uc001pwz.3	Q14134	OTTHUMG00000140377	ENST00000341846.5:c.1173dupC	11.37:g.119996565_119996565dupG	ENSP00000343129:p.Pro391fs		Q96AA9|Q9BZY7	Frame_Shift_Ins	INS	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	p.P392fs	ENST00000341846.5	37	c.1173_1172	CCDS8428.1	11																																																																																			TRIM29	-	NULL	ENSG00000137699		0.530	TRIM29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM29	HGNC	protein_coding	OTTHUMT00000277108.2	108	0.00	0	-	NM_012101		119996559	119996560	-1	no_errors	ENST00000341846	ensembl	human	known	69_37n	frame_shift_ins	16	11.11	2	INS	0.635:0.990	G
TRIM49	57093	genome.wustl.edu	37	11	89531356	89531356	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:89531356A>G	ENST00000329758.1	-	8	1629	c.1301T>C	c.(1300-1302)aTc>aCc	p.I434T	TRIM49_ENST00000532501.2_Missense_Mutation_p.I357T	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	434	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GCAATTAGGGATGGTGTATAT	0.433																																						dbGAP											0													7.0	8.0	8.0					11																	89531356		1852	4005	5857	-	-	-	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.1301T>C	11.37:g.89531356A>G	ENSP00000327604:p.Ile434Thr		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.I434T	ENST00000329758.1	37	c.1301	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	A	3.885	-0.025208	0.07589	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.69040	-0.37	1.21	-2.42	0.06542	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.64994	0.2649	M	0.65975	2.015	0.09310	N	1	P	0.41188	0.741	P	0.48770	0.589	T	0.56667	-0.7941	8	.	.	.	.	2.4116	0.04426	0.3311:0.2271:0.0:0.4417	.	434	P0CI25	TRI49_HUMAN	T	434;357	ENSP00000327604:I434T	.	I	-	2	0	TRIM49	89171004	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.197000	0.17197	-2.071000	0.00880	-0.873000	0.02984	ATC	TRIM49	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000168930		0.433	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	92	0.00	0	A	NM_020358		89531356	89531356	-1	no_errors	ENST00000329758	ensembl	human	known	69_37n	missense	67	20.24	17	SNP	0.000	G
TRNAU1AP	54952	genome.wustl.edu	37	1	28904118	28904118	+	Silent	SNP	A	A	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:28904118A>T	ENST00000373830.3	+	9	860	c.834A>T	c.(832-834)acA>acT	p.T278T	SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384581.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000384584.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000531126.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1	278					selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CCCTGGACACAGTGTCTTCAG	0.507																																						dbGAP											0													124.0	119.0	121.0					1																	28904118		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653	ENST00000373830.3:c.834A>T	1.37:g.28904118A>T			Q86SU7	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.T278	ENST00000373830.3	37	c.834	CCDS324.1	1																																																																																			TRNAU1AP	-	NULL	ENSG00000180098		0.507	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRNAU1AP	HGNC	protein_coding	OTTHUMT00000010346.1	65	0.00	0	A	NM_017846		28904118	28904118	+1	no_errors	ENST00000373830	ensembl	human	known	69_37n	silent	23	47.73	21	SNP	0.273	T
TTN	7273	genome.wustl.edu	37	2	179425922	179425922	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:179425922C>T	ENST00000591111.1	-	276	80238	c.80014G>A	c.(80014-80016)Gaa>Aaa	p.E26672K	TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E19248K|TTN_ENST00000359218.5_Missense_Mutation_p.E19373K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19440K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E25745K|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E28313K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26672	Fibronectin type-III 94. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)	p.E25743Q(1)|p.E25745Q(1)|p.E19248Q(1)|p.E19440Q(1)|p.E19373Q(1)		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)			TCAGTTACTTCAAAGTATGTT	0.428																																						dbGAP											5	Substitution - Missense(5)	lung(5)											81.0	75.0	77.0					2																	179425922		1914	4118	6032	-	-	-	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.80014G>A	2.37:g.179425922C>T	ENSP00000465570:p.Glu26672Lys		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_cat_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_cat_dom,pfscan_Ig-like	p.E25745K	ENST00000591111.1	37	c.77233		2	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045385	0.55110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.84	5.84	0.93424	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38852	0.1056	N	0.05259	-0.085	0.54753	D	0.999986	P;P;P;P	0.43231	0.801;0.801;0.801;0.801	B;B;B;B	0.40741	0.339;0.339;0.339;0.339	T	0.49952	-0.8884	9	0.87932	D	0	.	20.1386	0.98045	0.0:1.0:0.0:0.0	.	19248;19373;19440;26672	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	25745;19248;19440;19373;19246	ENSP00000343764:E25745K;ENSP00000434586:E19248K;ENSP00000340554:E19440K;ENSP00000352154:E19373K	ENSP00000340554:E19440K	E	-	1	0	TTN	179134168	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	4.978000	0.63799	2.767000	0.95098	0.561000	0.74099	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	201	0.00	0	C	NM_133378		179425922	179425922	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	70	10.26	8	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179599535	179599535	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr2:179599535A>T	ENST00000591111.1	-	49	14389	c.14165T>A	c.(14164-14166)cTt>cAt	p.L4722H	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L3795H|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L5039H			Q8WZ42	TITIN_HUMAN	titin	12102	Ig-like 27.				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)			CGTAATATCAAGTATAGCCTC	0.383																																						dbGAP											0													123.0	118.0	119.0					2																	179599535		1879	4115	5994	-	-	-	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.14165T>A	2.37:g.179599535A>T	ENSP00000465570:p.Leu4722His		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_cat_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_cat_dom,pfscan_Ig-like	p.L3795H	ENST00000591111.1	37	c.11384		2	.	.	.	.	.	.	.	.	.	.	A	10.19	1.282754	0.23392	.	.	ENSG00000155657	ENST00000342992	T	0.73469	-0.75	5.89	5.89	0.94794	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.91334	0.7267	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94247	0.7490	9	0.87932	D	0	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	4722	Q8WZ42	TITIN_HUMAN	H	3795	ENSP00000343764:L3795H	ENSP00000343764:L3795H	L	-	2	0	TTN	179307780	1.000000	0.71417	0.103000	0.21229	0.434000	0.31775	9.331000	0.96430	2.246000	0.74042	0.533000	0.62120	CTT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000155657		0.383	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	170	0.00	0	A	NM_133378		179599535	179599535	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	67	21.18	18	SNP	0.969	T
WDR60	55112	genome.wustl.edu	37	7	158723189	158723189	+	Silent	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr7:158723189G>C	ENST00000407559.3	+	21	2687	c.2529G>C	c.(2527-2529)ctG>ctC	p.L843L		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	843					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ATAGTGCTCTGATCCAGTTGG	0.408																																						dbGAP											0													174.0	164.0	167.0					7																	158723189		1980	4156	6136	-	-	-	SO:0001819	synonymous_variant	0				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2529G>C	7.37:g.158723189G>C			Q9NW58	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L843	ENST00000407559.3	37	c.2529	CCDS47757.1	7																																																																																			WDR60	-	superfamily_WD40_repeat_dom	ENSG00000126870		0.408	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	782	0.13	1	G	NM_018051		158723189	158723189	+1	no_errors	ENST00000407559	ensembl	human	known	69_37n	silent	138	38.77	88	SNP	0.000	C
WDTC1	23038	genome.wustl.edu	37	1	27621107	27621108	+	Frame_Shift_Ins	INS	-	-	G	rs145339479		TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr1:27621107_27621108insG	ENST00000319394.3	+	9	1395_1396	c.860_861insG	c.(859-864)atggggfs	p.MG287fs	WDTC1_ENST00000361771.3_Frame_Shift_Ins_p.MG287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CTAGTCAACATGGGGGGGGAAC	0.54																																						dbGAP											0										21,4245		0,21,2112						5.7	1.0			69	14,8240		0,14,4113	no	frameshift	WDTC1	NM_015023.3		0,35,6225	A1A1,A1R,RR		0.1696,0.4923,0.2796				35,12485				-	-	-	SO:0001589	frameshift_variant	0			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.868dupG	1.37:g.27621115_27621115dupG	ENSP00000317971:p.Met287fs		D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.860_861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom	ENSG00000142784		0.540	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		80	0.00	0	-	NM_015023		27621107	27621108	+1	no_errors	ENST00000319394	ensembl	human	known	69_37n	frame_shift_ins	42	10.64	5	INS	1.000:1.000	G
ZBTB4	57659	genome.wustl.edu	37	17	7370109	7370110	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr17:7370109_7370110insG	ENST00000311403.4	-	3	350_351	c.11_12insC	c.(10-12)cctfs	p.P4fs	ZBTB4_ENST00000380599.4_Frame_Shift_Ins_p.P4fs	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	4					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.A5fs*18(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TCACCTCTGCAGGGGGGGGCAT	0.649																																						dbGAP											2	Insertion - Frameshift(2)	ovary(2)																																								-	-	-	SO:0001589	frameshift_variant	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.12dupC	17.37:g.7370117_7370117dupG	ENSP00000307858:p.Pro4fs		B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Frame_Shift_Ins	INS	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A5fs	ENST00000311403.4	37	c.12_11	CCDS11107.1	17																																																																																			ZBTB4	-	superfamily_BTB/POZ_fold	ENSG00000174282		0.649	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	23	0.00	0	-	NM_020899		7370109	7370110	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	frame_shift_ins	25	24.24	8	INS	0.997:1.000	G
ZFPL1	7542	genome.wustl.edu	37	11	64854242	64854242	+	Silent	SNP	C	C	T			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:64854242C>T	ENST00000294258.3	+	5	611	c.459C>T	c.(457-459)ttC>ttT	p.F153F	CDCA5_ENST00000275517.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank|CDCA5_ENST00000404147.3_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	153					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CGTCTGACTTCTCTGACTGGT	0.557																																						dbGAP											0													218.0	198.0	205.0					11																	64854242		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.459C>T	11.37:g.64854242C>T			A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.L47F	ENST00000294258.3	37	c.139	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	C	15.43	2.830074	0.50845	.	.	ENSG00000162300	ENST00000530488	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	T	0.70815	0.3267	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69367	-0.5164	4	.	.	.	-19.1289	14.5848	0.68317	0.0:1.0:0.0:0.0	.	.	.	.	F	47	.	.	L	+	1	0	ZFPL1	64610818	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	3.295000	0.51794	2.514000	0.84764	0.555000	0.69702	CTC	ZFPL1	-	NULL	ENSG00000162300		0.557	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	336	0.00	0	C	NM_006782		64854242	64854242	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530488	ensembl	human	novel	69_37n	missense	71	18.39	16	SNP	1.000	T
ZFPL1	7542	genome.wustl.edu	37	11	64854532	64854532	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr11:64854532A>G	ENST00000294258.3	+	6	766	c.614A>G	c.(613-615)gAg>gGg	p.E205G	CDCA5_ENST00000275517.3_5'Flank|AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	205					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GGCAATCCTGAGCCCTTGACT	0.632																																						dbGAP											0													23.0	26.0	25.0					11																	64854532		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.614A>G	11.37:g.64854532A>G	ENSP00000294258:p.Glu205Gly		A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.E205G	ENST00000294258.3	37	c.614	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	A	14.80	2.642865	0.47153	.	.	ENSG00000162300	ENST00000294258;ENST00000532200	T	0.46451	0.87	5.73	5.73	0.89815	.	0.226240	0.44483	D	0.000451	T	0.46908	0.1417	L	0.36672	1.1	0.80722	D	1	D	0.58268	0.982	P	0.60345	0.873	T	0.29549	-1.0008	10	0.14252	T	0.57	-21.6867	12.3903	0.55355	1.0:0.0:0.0:0.0	.	205	O95159	ZFPL1_HUMAN	G	205	ENSP00000294258:E205G	ENSP00000294258:E205G	E	+	2	0	ZFPL1	64611108	1.000000	0.71417	0.885000	0.34714	0.487000	0.33371	3.040000	0.49799	2.183000	0.69458	0.459000	0.35465	GAG	ZFPL1	-	NULL	ENSG00000162300		0.632	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	48	0.00	0	A	NM_006782		64854532	64854532	+1	no_errors	ENST00000294258	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	0.991	G
ZMIZ1	57178	genome.wustl.edu	37	10	81072445	81072446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr10:81072445_81072446insC	ENST00000334512.5	+	25	3715_3716	c.3143_3144insC	c.(3142-3147)gaccccfs	p.DP1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Ins_p.DP114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			TCTTATCTGGACCCCCCCGACC	0.559																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3150dupC	10.37:g.81072452_81072452dupC	ENSP00000334474:p.Asp1048fs		Q5JSH9|Q7Z7E6	Frame_Shift_Ins	INS	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.D1051fs	ENST00000334512.5	37	c.3143_3144	CCDS7357.1	10																																																																																			ZMIZ1	-	NULL	ENSG00000108175		0.559	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	183	0.00	0	-	NM_020338		81072445	81072446	+1	no_errors	ENST00000334512	ensembl	human	known	69_37n	frame_shift_ins	22	12.00	3	INS	1.000:0.963	C
ZNF630	57232	genome.wustl.edu	37	X	47920304	47920304	+	Silent	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chrX:47920304A>G	ENST00000409324.3	-	3	262	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF630_ENST00000442455.3_Intron|ZNF630_ENST00000276054.4_5'UTR|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	12	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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCACAGCCACATCCTCAAATG	0.468																																						dbGAP											0													89.0	69.0	75.0					X																	47920304		1557	3572	5129	-	-	-	SO:0001819	synonymous_variant	0			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.36T>C	X.37:g.47920304A>G			F8WAG4|Q5H8Z5	Silent	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.D12	ENST00000409324.3	37	c.36	CCDS35237.2	X																																																																																			ZNF630	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000221994		0.468	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF630	HGNC	protein_coding	OTTHUMT00000327254.1	258	0.00	0	A	NM_001037735		47920304	47920304	-1	no_errors	ENST00000409324	ensembl	human	known	69_37n	silent	73	33.03	36	SNP	0.956	G
ZNF782	158431	genome.wustl.edu	37	9	99580237	99580237	+	Silent	SNP	T	T	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr9:99580237T>G	ENST00000481138.1	-	6	2729	c.2068A>C	c.(2068-2070)Aga>Cga	p.R690R	ZNF782_ENST00000535338.1_Silent_p.R558R|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	690					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATGTTCTCTAAGGCTTGAT	0.378																																						dbGAP											0													83.0	86.0	85.0					9																	99580237		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.2068A>C	9.37:g.99580237T>G			B2RNR0	Nonstop_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.*678S	ENST00000481138.1	37	c.2033	CCDS35075.1	9	.	.	.	.	.	.	.	.	.	.	t	6.299	0.423205	0.11928	.	.	ENSG00000196597	ENST00000289032	.	.	.	2.87	0.452	0.16634	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.3262	0.11041	0.0:0.1195:0.2037:0.6767	.	.	.	.	S	678	.	.	X	-	2	0	ZNF782	98620058	0.000000	0.05858	0.971000	0.41717	0.986000	0.74619	0.619000	0.24388	0.071000	0.16664	0.533000	0.62120	TAG	ZNF782	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196597		0.378	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF782	HGNC	protein_coding	OTTHUMT00000356810.1	258	0.00	0	T	NM_001001662		99580237	99580237	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000289032	ensembl	human	putative	69_37n	nonstop	151	14.69	26	SNP	0.116	G
ZSCAN16	80345	genome.wustl.edu	37	6	28093507	28093507	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr6:28093507G>C	ENST00000340487.4	+	2	435	c.286G>C	c.(286-288)Gac>Cac	p.D96H	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	96	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTTCCTAAAGACCTGCAAGC	0.547																																						dbGAP											0													79.0	64.0	69.0					6																	28093507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025844	CCDS4644.1	6p21.33	2013-01-08	2007-02-20	2007-02-20	ENSG00000196812	ENSG00000196812		"""-"", ""Zinc fingers, C2H2-type"""	20813	protein-coding gene	gene with protein product			"""zinc finger protein 392"", ""zinc finger protein 435"""	ZNF392, ZNF435			Standard	NM_025231		Approved	FLJ22191, dJ265C24.3	uc003nkm.3	Q9H4T2	OTTHUMG00000014509	ENST00000340487.4:c.286G>C	6.37:g.28093507G>C	ENSP00000366527:p.Asp96His		Q9H6K2	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.D96H	ENST00000340487.4	37	c.286	CCDS4644.1	6	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997469	0.54147	.	.	ENSG00000196812	ENST00000340487	T	0.06218	3.33	4.02	4.02	0.46733	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.12817	0.0311	L	0.58354	1.805	0.35652	D	0.811835	D;D	0.57899	0.965;0.981	D;P	0.64877	0.93;0.879	T	0.01051	-1.1468	9	0.87932	D	0	.	15.5303	0.75956	0.0:0.0:1.0:0.0	.	96;96	B4DFB7;Q9H4T2	.;ZSC16_HUMAN	H	96	ENSP00000366527:D96H	ENSP00000366527:D96H	D	+	1	0	ZSCAN16	28201486	0.984000	0.35163	0.822000	0.32727	0.985000	0.73830	2.780000	0.47742	2.264000	0.75181	0.558000	0.71614	GAC	ZSCAN16	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196812		0.547	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	HGNC	protein_coding	OTTHUMT00000040177.1	118	0.00	0	G	NM_025231		28093507	28093507	+1	no_errors	ENST00000340487	ensembl	human	known	69_37n	missense	81	26.36	29	SNP	0.854	C
ZSCAN29	146050	genome.wustl.edu	37	15	43658336	43658336	+	Silent	SNP	A	A	G			TCGA-A8-A097-01A-11W-A050-09	TCGA-A8-A097-10A-01D-A047-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	15ca7c47-131a-4dd7-b0a7-584577b4b02c	c83a2793-64cb-4b8a-a9ab-8b086e307aeb	g.chr15:43658336A>G	ENST00000396976.2	-	3	1328	c.1194T>C	c.(1192-1194)gcT>gcC	p.A398A	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Silent_p.A397A	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	398					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CAACAGGTGCAGCTGAGTTGG	0.537																																						dbGAP											0													66.0	67.0	67.0					15																	43658336		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1194T>C	15.37:g.43658336A>G			B3KVB9|Q32M75|Q32M76|Q8NA40	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A398	ENST00000396976.2	37	c.1194	CCDS10095.2	15																																																																																			ZSCAN29	-	NULL	ENSG00000140265		0.537	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	86	0.00	0	A	NM_152455		43658336	43658336	-1	no_errors	ENST00000396976	ensembl	human	known	69_37n	silent	65	14.47	11	SNP	0.755	G
