#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCA12	26154	genome.wustl.edu	37	2	215914452	215914452	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:215914452G>C	ENST00000272895.7	-	6	810	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	197					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGTCCAAGAGAAGGCATCAT	0.363																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													87.0	86.0	86.0					2																	215914452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.591C>G	2.37:g.215914452G>C	ENSP00000272895:p.Phe197Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F197L	ENST00000272895.7	37	c.591	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609015	0.28623	.	.	ENSG00000144452	ENST00000272895	D	0.86956	-2.19	6.05	5.17	0.71159	.	0.167338	0.43260	D	0.000594	T	0.73305	0.3570	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66512	-0.5905	10	0.02654	T	1	.	12.4976	0.55937	0.078:0.0:0.922:0.0	.	197	Q86UK0	ABCAC_HUMAN	L	197	ENSP00000272895:F197L	ENSP00000272895:F197L	F	-	3	2	ABCA12	215622697	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	1.535000	0.36061	1.568000	0.49683	0.655000	0.94253	TTC	ABCA12	-	NULL	ENSG00000144452		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	56	0.00	0	G	NM_173076		215914452	215914452	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.998	C
ABCA12	26154	genome.wustl.edu	37	2	215914452	215914452	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:215914452G>C	ENST00000272895.7	-	6	810	c.591C>G	c.(589-591)ttC>ttG	p.F197L		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	197					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGTCCAAGAGAAGGCATCAT	0.363																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													87.0	86.0	86.0					2																	215914452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.591C>G	2.37:g.215914452G>C	ENSP00000272895:p.Phe197Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F197L	ENST00000272895.7	37	c.591	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	G	11.34	1.609015	0.28623	.	.	ENSG00000144452	ENST00000272895	D	0.86956	-2.19	6.05	5.17	0.71159	.	0.167338	0.43260	D	0.000594	T	0.73305	0.3570	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.66512	-0.5905	10	0.02654	T	1	.	12.4976	0.55937	0.078:0.0:0.922:0.0	.	197	Q86UK0	ABCAC_HUMAN	L	197	ENSP00000272895:F197L	ENSP00000272895:F197L	F	-	3	2	ABCA12	215622697	1.000000	0.71417	0.995000	0.50966	0.733000	0.41908	1.535000	0.36061	1.568000	0.49683	0.655000	0.94253	TTC	ABCA12	-	NULL	ENSG00000144452		0.363	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	34	0.00	0	G	NM_173076		215914452	215914452	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	missense	20	37.50	12	SNP	0.998	C
ABCF1	23	genome.wustl.edu	37	6	30546270	30546270	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:30546270G>C	ENST00000326195.8	+	6	517	c.405G>C	c.(403-405)ctG>ctC	p.L135L	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.L135L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	135					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTGCAGCCCTGATTCAGGATC	0.493																																						dbGAP											0													102.0	88.0	93.0					6																	30546270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.405G>C	6.37:g.30546270G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L135	ENST00000326195.8	37	c.405	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	82	0.00	0	G			30546270	30546270	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	C
ABCF1	23	genome.wustl.edu	37	6	30546270	30546270	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:30546270G>C	ENST00000326195.8	+	6	517	c.405G>C	c.(403-405)ctG>ctC	p.L135L	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Silent_p.L135L	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	135					inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TTGCAGCCCTGATTCAGGATC	0.493																																						dbGAP											0													102.0	88.0	93.0					6																	30546270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.405G>C	6.37:g.30546270G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L135	ENST00000326195.8	37	c.405	CCDS34380.1	6																																																																																			ABCF1	-	NULL	ENSG00000204574		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	57	0.00	0	G			30546270	30546270	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	silent	51	17.74	11	SNP	1.000	C
ABCF1	23	genome.wustl.edu	37	6	30546304	30546304	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:30546304G>C	ENST00000326195.8	+	6	551	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E147Q	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	147	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GGAGGAGGAAGAAAAACATCC	0.493																																						dbGAP											0													103.0	91.0	95.0					6																	30546304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.439G>C	6.37:g.30546304G>C	ENSP00000313603:p.Glu147Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E147Q	ENST00000326195.8	37	c.439	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146442	0.77888	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.55760	0.51;0.5;0.64;0.52	4.64	3.77	0.43336	.	0.173559	0.49305	D	0.000152	T	0.24624	0.0597	L	0.28400	0.85	0.80722	D	1	B;B;B	0.27882	0.085;0.085;0.192	B;B;B	0.31614	0.092;0.092;0.133	T	0.16305	-1.0407	10	0.54805	T	0.06	-21.8739	8.6313	0.33922	0.1045:0.0:0.8955:0.0	.	147;147;147	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Q	147;147;148;148;50	ENSP00000313603:E147Q;ENSP00000365728:E147Q;ENSP00000405512:E148Q;ENSP00000440893:E50Q	ENSP00000313603:E147Q	E	+	1	0	ABCF1	30654283	1.000000	0.71417	0.959000	0.39883	0.968000	0.65278	4.165000	0.58196	1.319000	0.45190	0.563000	0.77884	GAA	ABCF1	-	NULL	ENSG00000204574		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	61	0.00	0	G			30546304	30546304	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.990	C
ABCF1	23	genome.wustl.edu	37	6	30546304	30546304	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:30546304G>C	ENST00000326195.8	+	6	551	c.439G>C	c.(439-441)Gaa>Caa	p.E147Q	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.E147Q	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	147	Glu-rich.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GGAGGAGGAAGAAAAACATCC	0.493																																						dbGAP											0													103.0	91.0	95.0					6																	30546304		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.439G>C	6.37:g.30546304G>C	ENSP00000313603:p.Glu147Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E147Q	ENST00000326195.8	37	c.439	CCDS34380.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146442	0.77888	.	.	ENSG00000204574	ENST00000326195;ENST00000376545;ENST00000455943;ENST00000441867;ENST00000468958	T;T;T;T	0.55760	0.51;0.5;0.64;0.52	4.64	3.77	0.43336	.	0.173559	0.49305	D	0.000152	T	0.24624	0.0597	L	0.28400	0.85	0.80722	D	1	B;B;B	0.27882	0.085;0.085;0.192	B;B;B	0.31614	0.092;0.092;0.133	T	0.16305	-1.0407	10	0.54805	T	0.06	-21.8739	8.6313	0.33922	0.1045:0.0:0.8955:0.0	.	147;147;147	Q2L6I2;Q8NE71;A2BF75	.;ABCF1_HUMAN;.	Q	147;147;148;148;50	ENSP00000313603:E147Q;ENSP00000365728:E147Q;ENSP00000405512:E148Q;ENSP00000440893:E50Q	ENSP00000313603:E147Q	E	+	1	0	ABCF1	30654283	1.000000	0.71417	0.959000	0.39883	0.968000	0.65278	4.165000	0.58196	1.319000	0.45190	0.563000	0.77884	GAA	ABCF1	-	NULL	ENSG00000204574		0.493	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ABCF1	HGNC	protein_coding	OTTHUMT00000076137.3	37	0.00	0	G			30546304	30546304	+1	no_errors	ENST00000326195	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.990	C
ABR	29	genome.wustl.edu	37	17	913994	913994	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:913994G>C	ENST00000302538.5	-	20	2357	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L188L|ABR_ENST00000544583.2_Silent_p.L691L|ABR_ENST00000291107.2_Silent_p.L700L|ABR_ENST00000574437.1_Silent_p.L691L|ABR_ENST00000536794.2_Silent_p.L519L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	737	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGGCTGGGTAGAGTCGGTCCG	0.632																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													74.0	73.0	73.0					17																	913994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2211C>G	17.37:g.913994G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S62C	ENST00000302538.5	37	c.185	CCDS10999.1	17																																																																																			ABR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000159842		0.632	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	91	0.00	0	G			913994	913994	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571797	ensembl	human	putative	69_37n	missense	39	25.93	14	SNP	0.967	C
ABR	29	genome.wustl.edu	37	17	913994	913994	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:913994G>C	ENST00000302538.5	-	20	2357	c.2211C>G	c.(2209-2211)ctC>ctG	p.L737L	ABR_ENST00000572441.1_Intron|ABR_ENST00000543210.2_Silent_p.L188L|ABR_ENST00000544583.2_Silent_p.L691L|ABR_ENST00000291107.2_Silent_p.L700L|ABR_ENST00000574437.1_Silent_p.L691L|ABR_ENST00000536794.2_Silent_p.L519L	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	737	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		AGGCTGGGTAGAGTCGGTCCG	0.632																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	dbGAP											0													74.0	73.0	73.0					17																	913994		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.2211C>G	17.37:g.913994G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S62C	ENST00000302538.5	37	c.185	CCDS10999.1	17																																																																																			ABR	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000159842		0.632	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABR	HGNC	protein_coding	OTTHUMT00000206675.4	67	0.00	0	G			913994	913994	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000571797	ensembl	human	putative	69_37n	missense	39	25.93	14	SNP	0.967	C
ACAD9	28976	genome.wustl.edu	37	3	128628238	128628238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:128628238G>C	ENST00000308982.7	+	15	1618	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	513						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGGACCGTGGAGACACTGCT	0.552																																						dbGAP											0													112.0	93.0	99.0					3																	128628238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1537G>C	3.37:g.128628238G>C	ENSP00000312618:p.Glu513Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E513Q	ENST00000308982.7	37	c.1537	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020168	0.35606	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.88818	-2.43	5.8	4.92	0.64577	.	0.237554	0.43579	D	0.000543	D	0.84705	0.5531	L	0.60957	1.885	0.48040	D	0.999575	B	0.34181	0.44	B	0.32022	0.139	T	0.81015	-0.1124	10	0.27082	T	0.32	.	9.9734	0.41768	0.094:0.0:0.906:0.0	.	513	Q9H845	ACAD9_HUMAN	Q	513;380	ENSP00000312618:E513Q	ENSP00000312618:E513Q	E	+	1	0	ACAD9	130110928	1.000000	0.71417	0.143000	0.22291	0.019000	0.09904	6.825000	0.75293	1.422000	0.47177	0.655000	0.94253	GAG	ACAD9	-	superfamily_AcylCo_DH/oxidase_C	ENSG00000177646		0.552	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	80	0.00	0	G	NM_014049		128628238	128628238	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.997	C
ACAD9	28976	genome.wustl.edu	37	3	128628238	128628238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:128628238G>C	ENST00000308982.7	+	15	1618	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	513						dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCGGACCGTGGAGACACTGCT	0.552																																						dbGAP											0													112.0	93.0	99.0					3																	128628238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF078854	CCDS3053.1	3q21.3	2013-05-24	2010-04-30		ENSG00000177646	ENSG00000177646		"""Mitochondrial respiratory chain complex assembly factors"""	21497	protein-coding gene	gene with protein product		611103	"""acyl-Coenzyme A dehydrogenase family, member 9"""			12359260, 21057504, 20816094	Standard	NM_014049		Approved	NPD002, MGC14452	uc003ela.4	Q9H845	OTTHUMG00000159942	ENST00000308982.7:c.1537G>C	3.37:g.128628238G>C	ENSP00000312618:p.Glu513Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNB8|Q8WXX3	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.E513Q	ENST00000308982.7	37	c.1537	CCDS3053.1	3	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020168	0.35606	.	.	ENSG00000177646	ENST00000308982;ENST00000334167	D	0.88818	-2.43	5.8	4.92	0.64577	.	0.237554	0.43579	D	0.000543	D	0.84705	0.5531	L	0.60957	1.885	0.48040	D	0.999575	B	0.34181	0.44	B	0.32022	0.139	T	0.81015	-0.1124	10	0.27082	T	0.32	.	9.9734	0.41768	0.094:0.0:0.906:0.0	.	513	Q9H845	ACAD9_HUMAN	Q	513;380	ENSP00000312618:E513Q	ENSP00000312618:E513Q	E	+	1	0	ACAD9	130110928	1.000000	0.71417	0.143000	0.22291	0.019000	0.09904	6.825000	0.75293	1.422000	0.47177	0.655000	0.94253	GAG	ACAD9	-	superfamily_AcylCo_DH/oxidase_C	ENSG00000177646		0.552	ACAD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD9	HGNC	protein_coding	OTTHUMT00000358405.1	50	0.00	0	G	NM_014049		128628238	128628238	+1	no_errors	ENST00000308982	ensembl	human	known	69_37n	missense	41	24.07	13	SNP	0.997	C
ACP2	53	genome.wustl.edu	37	11	47269175	47269175	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:47269175G>A	ENST00000256997.3	-	3	414				NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000444355.2_Intron|ACP2_ENST00000533929.1_Intron|NR1H3_ENST00000405576.1_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.P105L|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000525230.1_5'Flank|NR1H3_ENST00000395397.3_5'Flank|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000527256.1_Intron|ACP2_ENST00000537863.1_Intron	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal						dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCTTGCCTCTGGAGCTCCCAA	0.572																																					Melanoma(90;262 1440 11488 44828 48531)	dbGAP											0													92.0	75.0	80.0					11																	47269175		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.297+16C>T	11.37:g.47269175G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.P105L	ENST00000256997.3	37	c.314	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111048	0.37242	.	.	ENSG00000134575	ENST00000529788	T	0.43688	0.94	4.72	-7.34	0.01427	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41910	-0.9482	6	0.87932	D	0	.	1.0977	0.01677	0.2959:0.2596:0.2903:0.1542	.	.	.	.	L	105	ENSP00000436828:P105L	ENSP00000436828:P105L	P	-	2	0	ACP2	47225751	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.694000	0.05115	-1.340000	0.02227	-0.373000	0.07131	CCA	ACP2	-	NULL	ENSG00000134575		0.572	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	102	0.00	0	G	NM_001610		47269175	47269175	-1	no_errors	ENST00000529788	ensembl	human	putative	69_37n	missense	44	30.16	19	SNP	0.000	A
ACP2	53	genome.wustl.edu	37	11	47269175	47269175	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:47269175G>A	ENST00000256997.3	-	3	414				NR1H3_ENST00000407404.1_5'Flank|ACP2_ENST00000444355.2_Intron|ACP2_ENST00000533929.1_Intron|NR1H3_ENST00000405576.1_5'Flank|ACP2_ENST00000529788.1_Missense_Mutation_p.P105L|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000525230.1_5'Flank|NR1H3_ENST00000395397.3_5'Flank|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000529444.1_Intron|ACP2_ENST00000527256.1_Intron|ACP2_ENST00000537863.1_Intron	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal						dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						CCTTGCCTCTGGAGCTCCCAA	0.572																																					Melanoma(90;262 1440 11488 44828 48531)	dbGAP											0													92.0	75.0	80.0					11																	47269175		2201	4298	6499	-	-	-	SO:0001627	intron_variant	0			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.297+16C>T	11.37:g.47269175G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PCI1|Q561W5|Q9BTU7	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.P105L	ENST00000256997.3	37	c.314	CCDS7928.1	11	.	.	.	.	.	.	.	.	.	.	G	13.02	2.111048	0.37242	.	.	ENSG00000134575	ENST00000529788	T	0.43688	0.94	4.72	-7.34	0.01427	.	.	.	.	.	T	0.28599	0.0708	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41910	-0.9482	6	0.87932	D	0	.	1.0977	0.01677	0.2959:0.2596:0.2903:0.1542	.	.	.	.	L	105	ENSP00000436828:P105L	ENSP00000436828:P105L	P	-	2	0	ACP2	47225751	0.000000	0.05858	0.000000	0.03702	0.185000	0.23345	-0.694000	0.05115	-1.340000	0.02227	-0.373000	0.07131	CCA	ACP2	-	NULL	ENSG00000134575		0.572	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACP2	HGNC	protein_coding	OTTHUMT00000392022.2	94	0.00	0	G	NM_001610		47269175	47269175	-1	no_errors	ENST00000529788	ensembl	human	putative	69_37n	missense	44	30.16	19	SNP	0.000	A
ACSS2	55902	genome.wustl.edu	37	20	33502156	33502156	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:33502156C>T	ENST00000360596.2	+	7	961	c.750C>T	c.(748-750)gtC>gtT	p.V250V	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.V250V|ACSS2_ENST00000336325.4_Silent_p.V200V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	250					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCATTGTGGTCAAGCACCTGG	0.567																																						dbGAP											0													61.0	57.0	58.0					20																	33502156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.750C>T	20.37:g.33502156C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.V250	ENST00000360596.2	37	c.750	CCDS13243.1	20																																																																																			ACSS2	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000131069		0.567	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	33	0.00	0	C	NM_018677		33502156	33502156	+1	no_errors	ENST00000360596	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	1.000	T
ACSS2	55902	genome.wustl.edu	37	20	33502156	33502156	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:33502156C>T	ENST00000360596.2	+	7	961	c.750C>T	c.(748-750)gtC>gtT	p.V250V	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000253382.5_Silent_p.V250V|ACSS2_ENST00000336325.4_Silent_p.V200V	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	250					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCATTGTGGTCAAGCACCTGG	0.567																																						dbGAP											0													61.0	57.0	58.0					20																	33502156		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.750C>T	20.37:g.33502156C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Silent	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.V250	ENST00000360596.2	37	c.750	CCDS13243.1	20																																																																																			ACSS2	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig	ENSG00000131069		0.567	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS2	HGNC	protein_coding	OTTHUMT00000078823.3	28	0.00	0	C	NM_018677		33502156	33502156	+1	no_errors	ENST00000360596	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	1.000	T
ACTL7A	10881	genome.wustl.edu	37	9	111625373	111625373	+	Silent	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:111625373G>T	ENST00000333999.3	+	1	771	c.771G>T	c.(769-771)ctG>ctT	p.L257L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGGCCTGCTGAACAGTGCGG	0.577																																					Esophageal Squamous(177;1480 3591 17554)	dbGAP											0													43.0	42.0	42.0					9																	111625373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.771G>T	9.37:g.111625373G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC83|Q5JSV0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L257	ENST00000333999.3	37	c.771	CCDS6772.1	9																																																																																			ACTL7A	-	pfam_Actin-like,smart_Actin-like	ENSG00000187003		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	67	0.00	0	G	NM_006687		111625373	111625373	+1	no_errors	ENST00000333999	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	1.000	T
ACTL7A	10881	genome.wustl.edu	37	9	111625373	111625373	+	Silent	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:111625373G>T	ENST00000333999.3	+	1	771	c.771G>T	c.(769-771)ctG>ctT	p.L257L		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	257						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGGGCCTGCTGAACAGTGCGG	0.577																																					Esophageal Squamous(177;1480 3591 17554)	dbGAP											0													43.0	42.0	42.0					9																	111625373		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.771G>T	9.37:g.111625373G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RC83|Q5JSV0	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L257	ENST00000333999.3	37	c.771	CCDS6772.1	9																																																																																			ACTL7A	-	pfam_Actin-like,smart_Actin-like	ENSG00000187003		0.577	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	76	0.00	0	G	NM_006687		111625373	111625373	+1	no_errors	ENST00000333999	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	1.000	T
ACTN3	89	genome.wustl.edu	37	11	66322631	66322631	+	RNA	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:66322631C>T	ENST00000502692.1	+	0	833				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TCTGTGCCCTCATCCACCGAC	0.657																																						dbGAP											0													56.0	62.0	60.0					11																	66322631		2197	4294	6491	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322631C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP77|Q4KKV2	Silent	SNP	NULL	p.L239	ENST00000502692.1	37	c.717		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.657	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	34	0.00	0	C	NM_001104		66322631	66322631	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	silent	15	25.00	5	SNP	1.000	T
ACTRT1	139741	genome.wustl.edu	37	X	127185426	127185426	+	Missense_Mutation	SNP	C	C	G	rs372554502		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:127185426C>G	ENST00000371124.3	-	1	956	c.760G>C	c.(760-762)Gag>Cag	p.E254Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	254						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGGTACAGCTCATCCCCAAAG	0.547																																						dbGAP											0													128.0	115.0	119.0					X																	127185426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.760G>C	X.37:g.127185426C>G	ENSP00000360165:p.Glu254Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E254Q	ENST00000371124.3	37	c.760	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.980605	0.00448	.	.	ENSG00000123165	ENST00000371124	D	0.95205	-3.64	3.58	-1.79	0.07932	.	0.318283	0.26029	N	0.026770	D	0.85452	0.5700	N	0.16016	0.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.74811	-0.3538	10	0.87932	D	0	.	7.4879	0.27443	0.0:0.4117:0.1932:0.3951	.	254	Q8TDG2	ACTT1_HUMAN	Q	254	ENSP00000360165:E254Q	ENSP00000360165:E254Q	E	-	1	0	ACTRT1	127013107	0.090000	0.21635	0.000000	0.03702	0.001000	0.01503	0.774000	0.26675	-0.591000	0.05859	-0.912000	0.02778	GAG	ACTRT1	-	pfam_Actin-like,smart_Actin-like	ENSG00000123165		0.547	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	55	0.00	0	C	NM_138289		127185426	127185426	-1	no_errors	ENST00000371124	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.000	G
ACTRT1	139741	genome.wustl.edu	37	X	127185426	127185426	+	Missense_Mutation	SNP	C	C	G	rs372554502		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:127185426C>G	ENST00000371124.3	-	1	956	c.760G>C	c.(760-762)Gag>Cag	p.E254Q		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	254						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						TGGTACAGCTCATCCCCAAAG	0.547																																						dbGAP											0													128.0	115.0	119.0					X																	127185426		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF440739	CCDS14611.1	Xq25	2008-02-05	2005-11-22		ENSG00000123165	ENSG00000123165			24027	protein-coding gene	gene with protein product		300487				12243744	Standard	NM_138289		Approved	AIP1, KIAA0705, ARIP1, Arp-T1	uc004eum.3	Q8TDG2	OTTHUMG00000022359	ENST00000371124.3:c.760G>C	X.37:g.127185426C>G	ENSP00000360165:p.Glu254Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6X7C1|Q96L10	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.E254Q	ENST00000371124.3	37	c.760	CCDS14611.1	X	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.980605	0.00448	.	.	ENSG00000123165	ENST00000371124	D	0.95205	-3.64	3.58	-1.79	0.07932	.	0.318283	0.26029	N	0.026770	D	0.85452	0.5700	N	0.16016	0.355	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.74811	-0.3538	10	0.87932	D	0	.	7.4879	0.27443	0.0:0.4117:0.1932:0.3951	.	254	Q8TDG2	ACTT1_HUMAN	Q	254	ENSP00000360165:E254Q	ENSP00000360165:E254Q	E	-	1	0	ACTRT1	127013107	0.090000	0.21635	0.000000	0.03702	0.001000	0.01503	0.774000	0.26675	-0.591000	0.05859	-0.912000	0.02778	GAG	ACTRT1	-	pfam_Actin-like,smart_Actin-like	ENSG00000123165		0.547	ACTRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT1	HGNC	protein_coding	OTTHUMT00000058192.1	67	0.00	0	C	NM_138289		127185426	127185426	-1	no_errors	ENST00000371124	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.000	G
ADAMTS3	9508	genome.wustl.edu	37	4	73161390	73161390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:73161390G>A	ENST00000286657.4	-	19	2740	c.2704C>T	c.(2704-2706)Caa>Taa	p.Q902*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	902	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACACTCTTGAATATTGCAC	0.368																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													235.0	197.0	210.0					4																	73161390		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2704C>T	4.37:g.73161390G>A	ENSP00000286657:p.Gln902*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q902*	ENST00000286657.4	37	c.2704	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.855507	0.98528	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	18.9157	0.92505	0.0:0.0:1.0:0.0	.	.	.	.	X	902	.	ENSP00000286657:Q902X	Q	-	1	0	ADAMTS3	73380254	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	9.738000	0.98835	2.467000	0.83353	0.650000	0.86243	CAA	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156140		0.368	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	95	0.00	0	G			73161390	73161390	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	nonsense	36	16.28	7	SNP	1.000	A
ADAMTS3	9508	genome.wustl.edu	37	4	73161390	73161390	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:73161390G>A	ENST00000286657.4	-	19	2740	c.2704C>T	c.(2704-2706)Caa>Taa	p.Q902*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	902	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACACTCTTGAATATTGCAC	0.368																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													235.0	197.0	210.0					4																	73161390		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2704C>T	4.37:g.73161390G>A	ENSP00000286657:p.Gln902*	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U9|Q9BXZ8	Nonsense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.Q902*	ENST00000286657.4	37	c.2704	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.855507	0.98528	.	.	ENSG00000156140	ENST00000286657	.	.	.	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	18.9157	0.92505	0.0:0.0:1.0:0.0	.	.	.	.	X	902	.	ENSP00000286657:Q902X	Q	-	1	0	ADAMTS3	73380254	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	9.738000	0.98835	2.467000	0.83353	0.650000	0.86243	CAA	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000156140		0.368	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	103	0.00	0	G			73161390	73161390	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	nonsense	36	16.28	7	SNP	1.000	A
ADAMTS6	11174	genome.wustl.edu	37	5	64509978	64509978	+	IGR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:64509978G>C								ADAMTS6 (15386 upstream) : ADAMTS6 (83056 downstream)																							ATTAGGAATAGAGTAAATTGT	0.507																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															5.37:g.64509978G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		5																																																																																			ADAMTS6	-	-	ENSG00000049192	0	0.507					ADAMTS6	HGNC			53	0.00	0	G			64509978	64509978	-1	no_errors	ENST00000417396	ensembl	human	known	69_37n	rna	25	34.21	13	SNP	1.000	C
ADAMTS6	11174	genome.wustl.edu	37	5	64509978	64509978	+	IGR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:64509978G>C								ADAMTS6 (15386 upstream) : ADAMTS6 (83056 downstream)																							ATTAGGAATAGAGTAAATTGT	0.507																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															5.37:g.64509978G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		5																																																																																			ADAMTS6	-	-	ENSG00000049192	0	0.507					ADAMTS6	HGNC			40	0.00	0	G			64509978	64509978	-1	no_errors	ENST00000417396	ensembl	human	known	69_37n	rna	25	34.21	13	SNP	1.000	C
ADRA2C	152	genome.wustl.edu	37	4	3769694	3769694	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:3769694G>C	ENST00000330055.5	+	1	1570	c.1361G>C	c.(1360-1362)cGa>cCa	p.R454P	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	454					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATCCTCTTCCGACGGAGGAGA	0.617																																					Esophageal Squamous(12;454 628 4517 14479)	dbGAP											0													22.0	26.0	24.0					4																	3769694		2106	4240	6346	-	-	-	SO:0001583	missense	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1361G>C	4.37:g.3769694G>C	ENSP00000386069:p.Arg454Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P35369|Q9HB49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2C,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.R454P	ENST00000330055.5	37	c.1361	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322631	0.41096	.	.	ENSG00000184160	ENST00000330055	T	0.38887	1.11	3.93	2.97	0.34412	.	.	.	.	.	T	0.34308	0.0893	L	0.56340	1.77	0.24556	N	0.993994	P	0.49862	0.929	B	0.43301	0.415	T	0.32561	-0.9902	9	0.41790	T	0.15	.	2.431	0.04471	0.1908:0.0:0.5106:0.2986	.	454	P18825	ADA2C_HUMAN	P	454	ENSP00000386069:R454P	ENSP00000386069:R454P	R	+	2	0	ADRA2C	3739492	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	2.003000	0.58678	0.655000	0.94253	CGA	ADRA2C	-	prints_Adren_rcpt_A2C	ENSG00000184160		0.617	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	51	0.00	0	G	NM_000683		3769694	3769694	+1	no_errors	ENST00000330055	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.992	C
ADRA2C	152	genome.wustl.edu	37	4	3769694	3769694	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:3769694G>C	ENST00000330055.5	+	1	1570	c.1361G>C	c.(1360-1362)cGa>cCa	p.R454P	ADRA2C_ENST00000509482.1_Intron	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	454					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATCCTCTTCCGACGGAGGAGA	0.617																																					Esophageal Squamous(12;454 628 4517 14479)	dbGAP											0													22.0	26.0	24.0					4																	3769694		2106	4240	6346	-	-	-	SO:0001583	missense	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.1361G>C	4.37:g.3769694G>C	ENSP00000386069:p.Arg454Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P35369|Q9HB49	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Adren_rcpt_A2C,prints_7TM_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.R454P	ENST00000330055.5	37	c.1361	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	G	13.72	2.322631	0.41096	.	.	ENSG00000184160	ENST00000330055	T	0.38887	1.11	3.93	2.97	0.34412	.	.	.	.	.	T	0.34308	0.0893	L	0.56340	1.77	0.24556	N	0.993994	P	0.49862	0.929	B	0.43301	0.415	T	0.32561	-0.9902	9	0.41790	T	0.15	.	2.431	0.04471	0.1908:0.0:0.5106:0.2986	.	454	P18825	ADA2C_HUMAN	P	454	ENSP00000386069:R454P	ENSP00000386069:R454P	R	+	2	0	ADRA2C	3739492	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.704000	0.47118	2.003000	0.58678	0.655000	0.94253	CGA	ADRA2C	-	prints_Adren_rcpt_A2C	ENSG00000184160		0.617	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	30	0.00	0	G	NM_000683		3769694	3769694	+1	no_errors	ENST00000330055	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.992	C
AGAP3	116988	genome.wustl.edu	37	7	150839697	150839697	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:150839697C>T	ENST00000463381.1	+	14	1752	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	AGAP3_ENST00000397238.2_Missense_Mutation_p.S750F	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	714	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGTGGCTACTCCAAGCCAGGG	0.642																																						dbGAP											0													29.0	32.0	31.0					7																	150839697		2052	4194	6246	-	-	-	SO:0001583	missense	0			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1256C>T	7.37:g.150839697C>T	ENSP00000418016:p.Ser419Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S750F	ENST00000463381.1	37	c.2249		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.492|6.492	0.458953|0.458953	0.12342|0.12342	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.43688	.|0.94;0.94	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.849082	.|0.10683	.|N	.|0.646179	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.45051|0.45051	1.395|1.395	0.32092|0.32092	N|N	0.59168|0.59168	.|B;B;B;B	.|0.28082	.|0.087;0.01;0.17;0.2	.|B;B;B;B	.|0.37650	.|0.255;0.011;0.251;0.069	T|T	0.52518|0.52518	-0.8565|-0.8565	5|10	.|0.56958	.|D	.|0.05	.|.	11.2964|11.2964	0.49280|0.49280	0.0:0.9167:0.0:0.0833|0.0:0.9167:0.0:0.0833	.|.	.|714;249;750;419	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	S|F	243|419;249;750;714	.|ENSP00000418016:S419F;ENSP00000380413:S750F	.|ENSP00000334157:S714F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150470630|150470630	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.142000|0.142000	0.21351|0.21351	0.742000|0.742000	0.26216|0.26216	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	CCA|TCC	AGAP3	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000133612		0.642	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351909.2	33	0.00	0	C	NM_031946		150839697	150839697	+1	no_errors	ENST00000397238	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.141	T
AGAP3	116988	genome.wustl.edu	37	7	150839697	150839697	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:150839697C>T	ENST00000463381.1	+	14	1752	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	AGAP3_ENST00000397238.2_Missense_Mutation_p.S750F	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	714	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGTGGCTACTCCAAGCCAGGG	0.642																																						dbGAP											0													29.0	32.0	31.0					7																	150839697		2052	4194	6246	-	-	-	SO:0001583	missense	0			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1256C>T	7.37:g.150839697C>T	ENSP00000418016:p.Ser419Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.S750F	ENST00000463381.1	37	c.2249		7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.492|6.492	0.458953|0.458953	0.12342|0.12342	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000461065|ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	.|T;T	.|0.43688	.|0.94;0.94	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|0.849082	.|0.10683	.|N	.|0.646179	T|T	0.43809|0.43809	0.1264|0.1264	L|L	0.45051|0.45051	1.395|1.395	0.32092|0.32092	N|N	0.59168|0.59168	.|B;B;B;B	.|0.28082	.|0.087;0.01;0.17;0.2	.|B;B;B;B	.|0.37650	.|0.255;0.011;0.251;0.069	T|T	0.52518|0.52518	-0.8565|-0.8565	5|10	.|0.56958	.|D	.|0.05	.|.	11.2964|11.2964	0.49280|0.49280	0.0:0.9167:0.0:0.0833|0.0:0.9167:0.0:0.0833	.|.	.|714;249;750;419	.|Q96P47;E7ETI2;Q96P47-4;B3KNZ8	.|AGAP3_HUMAN;.;.;.	S|F	243|419;249;750;714	.|ENSP00000418016:S419F;ENSP00000380413:S750F	.|ENSP00000334157:S714F	P|S	+|+	1|2	0|0	AGAP3|AGAP3	150470630|150470630	0.000000|0.000000	0.05858|0.05858	0.031000|0.031000	0.17742|0.17742	0.142000|0.142000	0.21351|0.21351	0.742000|0.742000	0.26216|0.26216	2.445000|2.445000	0.82738|0.82738	0.561000|0.561000	0.74099|0.74099	CCA|TCC	AGAP3	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000133612		0.642	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351909.2	46	0.00	0	C	NM_031946		150839697	150839697	+1	no_errors	ENST00000397238	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	0.141	T
AGBL1	123624	genome.wustl.edu	37	15	86807827	86807827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:86807827delC	ENST00000441037.2	+	10	1382	c.1287delC	c.(1285-1287)tgcfs	p.C429fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.C160fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.C429fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	429					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAATTTTCTGCCCAAGGATGA	0.453																																						dbGAP											0													104.0	105.0	105.0					15																	86807827		1880	4116	5996	-	-	-	SO:0001589	frameshift_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1287delC	15.37:g.86807827delC	ENSP00000413001:p.Cys429fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.P430fs	ENST00000441037.2	37	c.1287	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	34	0.00	0	C	NM_152336		86807827	86807827	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	frame_shift_del	30	28.57	12	DEL	0.172	-
AGBL1	123624	genome.wustl.edu	37	15	86807827	86807827	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:86807827delC	ENST00000441037.2	+	10	1382	c.1287delC	c.(1285-1287)tgcfs	p.C429fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.C160fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.C429fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	429					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CAATTTTCTGCCCAAGGATGA	0.453																																						dbGAP											0													104.0	105.0	105.0					15																	86807827		1880	4116	5996	-	-	-	SO:0001589	frameshift_variant	0			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1287delC	15.37:g.86807827delC	ENSP00000413001:p.Cys429fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4X5|A6NJH6|C9JHL5	Frame_Shift_Del	DEL	pfam_Peptidase_M14,superfamily_ARM-type_fold	p.P430fs	ENST00000441037.2	37	c.1287	CCDS58398.1	15																																																																																			AGBL1	-	superfamily_ARM-type_fold	ENSG00000166748		0.453	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	AGBL1	HGNC	protein_coding	OTTHUMT00000314929.5	42	0.00	0	C	NM_152336		86807827	86807827	+1	no_errors	ENST00000441037	ensembl	human	known	69_37n	frame_shift_del	30	28.57	12	DEL	0.172	-
AGPAT4	56895	genome.wustl.edu	37	6	161574409	161574409	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:161574409G>A	ENST00000320285.4	-	5	845	c.633C>T	c.(631-633)ttC>ttT	p.F211F	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	211					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGGTGATGGCGAAGCCCTTGG	0.622											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	70.0	79.0					6																	161574409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.633C>T	6.37:g.161574409G>A		Somatic	1817	WXS	Illumina GAIIx	Phase_IV	B4DSF9|Q5TEF0	Silent	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.F211	ENST00000320285.4	37	c.633	CCDS5280.1	6																																																																																			AGPAT4	-	pfam_Acyltransferase,smart_Acyltransferase	ENSG00000026652		0.622	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	53	0.00	0	G	NM_020133		161574409	161574409	-1	no_errors	ENST00000320285	ensembl	human	known	69_37n	silent	15	46.43	13	SNP	1.000	A
AGPAT4	56895	genome.wustl.edu	37	6	161574409	161574409	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:161574409G>A	ENST00000320285.4	-	5	845	c.633C>T	c.(631-633)ttC>ttT	p.F211F	AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	211					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CGGTGATGGCGAAGCCCTTGG	0.622											OREG0017775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													95.0	70.0	79.0					6																	161574409		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.633C>T	6.37:g.161574409G>A		Somatic	1817	WXS	Illumina GAIIx	Phase_IV	B4DSF9|Q5TEF0	Silent	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.F211	ENST00000320285.4	37	c.633	CCDS5280.1	6																																																																																			AGPAT4	-	pfam_Acyltransferase,smart_Acyltransferase	ENSG00000026652		0.622	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT4	HGNC	protein_coding	OTTHUMT00000042983.1	54	0.00	0	G	NM_020133		161574409	161574409	-1	no_errors	ENST00000320285	ensembl	human	known	69_37n	silent	15	46.43	13	SNP	1.000	A
AKAP9	10142	genome.wustl.edu	37	7	91706193	91706193	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:91706193G>C	ENST00000359028.2	+	30	6898	c.6673G>C	c.(6673-6675)Gaa>Caa	p.E2225Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2225Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2213Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2225	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E2225Q(1)|p.E2213Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGCAATTAGAACAGTTTAG	0.274			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	endometrium(2)											30.0	30.0	30.0					7																	91706193		2193	4260	6453	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6673G>C	7.37:g.91706193G>C	ENSP00000351922:p.Glu2225Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E2225Q	ENST00000359028.2	37	c.6673		7	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577512	0.65878	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.07800	3.58;3.58;3.56;3.16	5.6	5.6	0.85130	.	0.000000	0.37348	N	0.002125	T	0.32406	0.0828	M	0.78637	2.42	0.53688	D	0.99997	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.87578	0.858;0.997;0.998	T	0.00561	-1.1670	10	0.37606	T	0.19	.	19.9756	0.97304	0.0:0.0:1.0:0.0	.	2225;2213;2205	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	2213;2225;2225;2217;59	ENSP00000348573:E2213Q;ENSP00000351922:E2225Q;ENSP00000350813:E2225Q;ENSP00000378042:E59Q	ENSP00000348573:E2213Q	E	+	1	0	AKAP9	91544129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.021000	0.88750	2.793000	0.96121	0.563000	0.77884	GAA	AKAP9	-	superfamily_Prefoldin	ENSG00000127914		0.274	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		47	0.00	0	G	NM_005751		91706193	91706193	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	C
AKAP9	10142	genome.wustl.edu	37	7	91706193	91706193	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:91706193G>C	ENST00000359028.2	+	30	6898	c.6673G>C	c.(6673-6675)Gaa>Caa	p.E2225Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2225Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2213Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2225	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.E2225Q(1)|p.E2213Q(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGCAATTAGAACAGTTTAG	0.274			T	BRAF	papillary thyroid																																	dbGAP		Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Substitution - Missense(2)	endometrium(2)											30.0	30.0	30.0					7																	91706193		2193	4260	6453	-	-	-	SO:0001583	missense	0			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6673G>C	7.37:g.91706193G>C	ENSP00000351922:p.Glu2225Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.E2225Q	ENST00000359028.2	37	c.6673		7	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577512	0.65878	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394534	T;T;T;T	0.07800	3.58;3.58;3.56;3.16	5.6	5.6	0.85130	.	0.000000	0.37348	N	0.002125	T	0.32406	0.0828	M	0.78637	2.42	0.53688	D	0.99997	D;D;D	0.89917	0.976;1.0;1.0	P;D;D	0.87578	0.858;0.997;0.998	T	0.00561	-1.1670	10	0.37606	T	0.19	.	19.9756	0.97304	0.0:0.0:1.0:0.0	.	2225;2213;2205	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	2213;2225;2225;2217;59	ENSP00000348573:E2213Q;ENSP00000351922:E2225Q;ENSP00000350813:E2225Q;ENSP00000378042:E59Q	ENSP00000348573:E2213Q	E	+	1	0	AKAP9	91544129	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.021000	0.88750	2.793000	0.96121	0.563000	0.77884	GAA	AKAP9	-	superfamily_Prefoldin	ENSG00000127914		0.274	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		36	0.00	0	G	NM_005751		91706193	91706193	+1	no_errors	ENST00000359028	ensembl	human	known	69_37n	missense	37	15.91	7	SNP	1.000	C
AMBP	259	genome.wustl.edu	37	9	116823786	116823786	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:116823786C>T	ENST00000265132.3	-	8	1033	c.771G>A	c.(769-771)gaG>gaA	p.E257E		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	257	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACTGGAAAGTCTCACAGGCCA	0.572																																						dbGAP											0													81.0	76.0	78.0					9																	116823786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.771G>A	9.37:g.116823786C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin,pfscan_Prot_inh_Kunz-m	p.E257	ENST00000265132.3	37	c.771	CCDS6800.1	9																																																																																			AMBP	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000106927		0.572	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2	71	0.00	0	C	NM_001633		116823786	116823786	-1	no_errors	ENST00000265132	ensembl	human	known	69_37n	silent	37	24.49	12	SNP	0.998	T
AMBP	259	genome.wustl.edu	37	9	116823786	116823786	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:116823786C>T	ENST00000265132.3	-	8	1033	c.771G>A	c.(769-771)gaG>gaA	p.E257E		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	257	BPTI/Kunitz inhibitor 1. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACTGGAAAGTCTCACAGGCCA	0.572																																						dbGAP											0													81.0	76.0	78.0					9																	116823786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.771G>A	9.37:g.116823786C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin,pfscan_Prot_inh_Kunz-m	p.E257	ENST00000265132.3	37	c.771	CCDS6800.1	9																																																																																			AMBP	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000106927		0.572	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	HGNC	protein_coding	OTTHUMT00000053758.2	60	0.00	0	C	NM_001633		116823786	116823786	-1	no_errors	ENST00000265132	ensembl	human	known	69_37n	silent	37	24.49	12	SNP	0.998	T
ANKRD12	23253	genome.wustl.edu	37	18	9254494	9254494	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:9254494C>T	ENST00000262126.4	+	9	1469	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	ANKRD12_ENST00000383440.2_Missense_Mutation_p.S387L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S387L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	410						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TATCCTAAATCATTTAAAAGT	0.313																																						dbGAP											0													67.0	77.0	73.0					18																	9254494		2202	4295	6497	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1229C>T	18.37:g.9254494C>T	ENSP00000262126:p.Ser410Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S410L	ENST00000262126.4	37	c.1229	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840493	0.16891	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.06608	3.28;3.4	5.86	4.98	0.66077	.	0.385890	0.27891	N	0.017438	T	0.09024	0.0223	L	0.56769	1.78	0.38623	D	0.951191	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.11329	0.006;0.004;0.003	T	0.03413	-1.1039	10	0.72032	D	0.01	-10.2029	11.5295	0.50599	0.0:0.8626:0.0:0.1374	.	37;387;410	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	L	387;410;117	ENSP00000372932:S387L;ENSP00000262126:S410L	ENSP00000262126:S410L	S	+	2	0	ANKRD12	9244494	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.492000	0.60334	2.771000	0.95319	0.650000	0.86243	TCA	ANKRD12	-	NULL	ENSG00000101745		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	33	0.00	0	C	NM_015208		9254494	9254494	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.999	T
ANKRD12	23253	genome.wustl.edu	37	18	9254494	9254494	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:9254494C>T	ENST00000262126.4	+	9	1469	c.1229C>T	c.(1228-1230)tCa>tTa	p.S410L	ANKRD12_ENST00000383440.2_Missense_Mutation_p.S387L|ANKRD12_ENST00000400020.3_Missense_Mutation_p.S387L	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	410						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TATCCTAAATCATTTAAAAGT	0.313																																						dbGAP											0													67.0	77.0	73.0					18																	9254494		2202	4295	6497	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.1229C>T	18.37:g.9254494C>T	ENSP00000262126:p.Ser410Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S410L	ENST00000262126.4	37	c.1229	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	8.394	0.840493	0.16891	.	.	ENSG00000101745	ENST00000383440;ENST00000262126;ENST00000359158	T;T	0.06608	3.28;3.4	5.86	4.98	0.66077	.	0.385890	0.27891	N	0.017438	T	0.09024	0.0223	L	0.56769	1.78	0.38623	D	0.951191	B;B;B	0.12630	0.004;0.004;0.006	B;B;B	0.11329	0.006;0.004;0.003	T	0.03413	-1.1039	10	0.72032	D	0.01	-10.2029	11.5295	0.50599	0.0:0.8626:0.0:0.1374	.	37;387;410	Q9NXU3;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	L	387;410;117	ENSP00000372932:S387L;ENSP00000262126:S410L	ENSP00000262126:S410L	S	+	2	0	ANKRD12	9244494	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.492000	0.60334	2.771000	0.95319	0.650000	0.86243	TCA	ANKRD12	-	NULL	ENSG00000101745		0.313	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	44	0.00	0	C	NM_015208		9254494	9254494	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.999	T
ANKRD20A11P	391267	genome.wustl.edu	37	21	15313159	15313159	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:15313159C>G	ENST00000344693.5	-	0	1088					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CCTTCAGTTTCTTGGGAAATT	0.348																																						dbGAP											0																																										-	-	-			0					21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15313159C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000344693.5	37	NULL		21																																																																																			ANKRD20A11P	-	-	ENSG00000215559		0.348	ANKRD20A11P-005	KNOWN	basic	processed_transcript	ANKRD20A11P	HGNC	pseudogene	OTTHUMT00000157750.1	91	0.00	0	C			15313159	15313159	-1	no_errors	ENST00000428576	ensembl	human	known	69_37n	rna	49	33.78	25	SNP	0.000	G
ANKRD20A11P	391267	genome.wustl.edu	37	21	15313159	15313159	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:15313159C>G	ENST00000344693.5	-	0	1088					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		CCTTCAGTTTCTTGGGAAATT	0.348																																						dbGAP											0																																										-	-	-			0					21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15313159C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000344693.5	37	NULL		21																																																																																			ANKRD20A11P	-	-	ENSG00000215559		0.348	ANKRD20A11P-005	KNOWN	basic	processed_transcript	ANKRD20A11P	HGNC	pseudogene	OTTHUMT00000157750.1	84	0.00	0	C			15313159	15313159	-1	no_errors	ENST00000428576	ensembl	human	known	69_37n	rna	49	33.78	25	SNP	0.000	G
ANKRD36	375248	genome.wustl.edu	37	2	97911164	97911164	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:97911164G>C	ENST00000461153.2	+	71	5084	c.4840G>C	c.(4840-4842)Gag>Cag	p.E1614Q	ANKRD36_ENST00000420699.2_Missense_Mutation_p.E1614Q|ANKRD36_ENST00000357042.4_5'Flank			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1614										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTCCAAACTGGAGAAGCAAAG	0.433																																						dbGAP											0													7.0	13.0	11.0					2																	97911164		347	924	1271	-	-	-	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.4840G>C	2.37:g.97911164G>C	ENSP00000419530:p.Glu1614Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1614Q	ENST00000461153.2	37	c.4840	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.820	0.335522	0.11013	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.15834	2.39;2.39	1.4	1.4	0.22301	.	.	.	.	.	T	0.14227	0.0344	L	0.36672	1.1	0.80722	D	1	D;B	0.55385	0.971;0.376	P;B	0.44772	0.46;0.094	T	0.08249	-1.0731	9	0.45353	T	0.12	.	8.7525	0.34626	0.0:0.0:1.0:0.0	.	1614;438	A6QL64;A6QL64-3	AN36A_HUMAN;.	Q	1614;1614;881	ENSP00000419530:E1614Q;ENSP00000391950:E1614Q	ENSP00000391950:E1614Q	E	+	1	0	ANKRD36	97274882	1.000000	0.71417	0.108000	0.21378	0.044000	0.14063	3.781000	0.55394	1.081000	0.41110	0.184000	0.17185	GAG	ANKRD36	-	NULL	ENSG00000135976		0.433	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	110	0.00	0	G			97911164	97911164	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.989	C
ANKRD36	375248	genome.wustl.edu	37	2	97911164	97911164	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:97911164G>C	ENST00000461153.2	+	71	5084	c.4840G>C	c.(4840-4842)Gag>Cag	p.E1614Q	ANKRD36_ENST00000420699.2_Missense_Mutation_p.E1614Q|ANKRD36_ENST00000357042.4_5'Flank			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1614										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TTCCAAACTGGAGAAGCAAAG	0.433																																						dbGAP											0													7.0	13.0	11.0					2																	97911164		347	924	1271	-	-	-	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.4840G>C	2.37:g.97911164G>C	ENSP00000419530:p.Glu1614Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1614Q	ENST00000461153.2	37	c.4840	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	5.820	0.335522	0.11013	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.15834	2.39;2.39	1.4	1.4	0.22301	.	.	.	.	.	T	0.14227	0.0344	L	0.36672	1.1	0.80722	D	1	D;B	0.55385	0.971;0.376	P;B	0.44772	0.46;0.094	T	0.08249	-1.0731	9	0.45353	T	0.12	.	8.7525	0.34626	0.0:0.0:1.0:0.0	.	1614;438	A6QL64;A6QL64-3	AN36A_HUMAN;.	Q	1614;1614;881	ENSP00000419530:E1614Q;ENSP00000391950:E1614Q	ENSP00000391950:E1614Q	E	+	1	0	ANKRD36	97274882	1.000000	0.71417	0.108000	0.21378	0.044000	0.14063	3.781000	0.55394	1.081000	0.41110	0.184000	0.17185	GAG	ANKRD36	-	NULL	ENSG00000135976		0.433	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	123	0.00	0	G			97911164	97911164	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	missense	91	16.51	18	SNP	0.989	C
ANKRD62	342850	genome.wustl.edu	37	18	12126074	12126074	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:12126074G>C	ENST00000587848.2	+	13	2419	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q	ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Missense_Mutation_p.E738Q			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	752										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGAGGACATTGAACACATGTA	0.408																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.2254G>C	18.37:g.12126074G>C	ENSP00000467740:p.Glu752Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E738Q	ENST00000587848.2	37	c.2212		18	.	.	.	.	.	.	.	.	.	.	.	12.87	2.068973	0.36470	.	.	ENSG00000181626	ENST00000314074;ENST00000418274	D;D	0.83419	-1.72;-1.72	1.85	0.947	0.19555	.	.	.	.	.	D	0.87293	0.6141	M	0.80508	2.5	0.19575	N	0.999963	D	0.62365	0.991	P	0.58454	0.839	T	0.76119	-0.3076	9	0.66056	D	0.02	.	6.1637	0.20378	0.178:0.0:0.822:0.0	.	752	A6NC57	ANR62_HUMAN	Q	738;474	ENSP00000326572:E738Q;ENSP00000405628:E474Q	ENSP00000326572:E738Q	E	+	1	0	ANKRD62	12116074	0.991000	0.36638	0.008000	0.14137	0.019000	0.09904	3.745000	0.55119	0.341000	0.23771	0.297000	0.19635	GAA	ANKRD62	-	NULL	ENSG00000181626		0.408	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	101	0.00	0	G	XM_001715728		12126074	12126074	+1	no_errors	ENST00000314074	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	0.486	C
ANKRD62	342850	genome.wustl.edu	37	18	12126074	12126074	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:12126074G>C	ENST00000587848.2	+	13	2419	c.2254G>C	c.(2254-2256)Gaa>Caa	p.E752Q	ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Missense_Mutation_p.E738Q			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	752										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						GGAGGACATTGAACACATGTA	0.408																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.2254G>C	18.37:g.12126074G>C	ENSP00000467740:p.Glu752Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E738Q	ENST00000587848.2	37	c.2212		18	.	.	.	.	.	.	.	.	.	.	.	12.87	2.068973	0.36470	.	.	ENSG00000181626	ENST00000314074;ENST00000418274	D;D	0.83419	-1.72;-1.72	1.85	0.947	0.19555	.	.	.	.	.	D	0.87293	0.6141	M	0.80508	2.5	0.19575	N	0.999963	D	0.62365	0.991	P	0.58454	0.839	T	0.76119	-0.3076	9	0.66056	D	0.02	.	6.1637	0.20378	0.178:0.0:0.822:0.0	.	752	A6NC57	ANR62_HUMAN	Q	738;474	ENSP00000326572:E738Q;ENSP00000405628:E474Q	ENSP00000326572:E738Q	E	+	1	0	ANKRD62	12116074	0.991000	0.36638	0.008000	0.14137	0.019000	0.09904	3.745000	0.55119	0.341000	0.23771	0.297000	0.19635	GAA	ANKRD62	-	NULL	ENSG00000181626		0.408	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	104	0.00	0	G	XM_001715728		12126074	12126074	+1	no_errors	ENST00000314074	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	0.486	C
ANO2	57101	genome.wustl.edu	37	12	5853339	5853339	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:5853339G>C	ENST00000356134.5	-	13	1397	c.1326C>G	c.(1324-1326)atC>atG	p.I442M	ANO2_ENST00000327087.8_Missense_Mutation_p.I441M|ANO2_ENST00000546188.1_Missense_Mutation_p.I442M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	446					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAGCCATGAAGATAGAGAAGA	0.537																																						dbGAP											0													92.0	99.0	97.0					12																	5853339		2066	4209	6275	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1326C>G	12.37:g.5853339G>C	ENSP00000348453:p.Ile442Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.I442M	ENST00000356134.5	37	c.1326		12	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429925	0.62844	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.65916	-0.18;-0.18;-0.18	5.43	3.59	0.41128	.	0.105766	0.64402	D	0.000003	T	0.72851	0.3512	M	0.73753	2.245	0.49130	D	0.999752	D	0.60160	0.987	D	0.65443	0.935	T	0.73814	-0.3864	10	0.62326	D	0.03	.	6.6466	0.22939	0.1569:0.1486:0.6945:0.0	.	441	Q9NQ90-3	.	M	441;442;442;446	ENSP00000314048:I441M;ENSP00000348453:I442M;ENSP00000440981:I442M	ENSP00000314048:I441M	I	-	3	3	ANO2	5723600	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.910000	0.28571	1.444000	0.47605	0.655000	0.94253	ATC	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.537	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	30	0.00	0	G	NM_020373		5853339	5853339	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	C
ANO2	57101	genome.wustl.edu	37	12	5853339	5853339	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:5853339G>C	ENST00000356134.5	-	13	1397	c.1326C>G	c.(1324-1326)atC>atG	p.I442M	ANO2_ENST00000327087.8_Missense_Mutation_p.I441M|ANO2_ENST00000546188.1_Missense_Mutation_p.I442M	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	446					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GAGCCATGAAGATAGAGAAGA	0.537																																						dbGAP											0													92.0	99.0	97.0					12																	5853339		2066	4209	6275	-	-	-	SO:0001583	missense	0			AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.1326C>G	12.37:g.5853339G>C	ENSP00000348453:p.Ile442Met	Somatic		WXS	Illumina GAIIx	Phase_IV	C4N787|Q9H847	Missense_Mutation	SNP	pfam_Anoctamin	p.I442M	ENST00000356134.5	37	c.1326		12	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429925	0.62844	.	.	ENSG00000047617	ENST00000327087;ENST00000356134;ENST00000546188;ENST00000541277	T;T;T	0.65916	-0.18;-0.18;-0.18	5.43	3.59	0.41128	.	0.105766	0.64402	D	0.000003	T	0.72851	0.3512	M	0.73753	2.245	0.49130	D	0.999752	D	0.60160	0.987	D	0.65443	0.935	T	0.73814	-0.3864	10	0.62326	D	0.03	.	6.6466	0.22939	0.1569:0.1486:0.6945:0.0	.	441	Q9NQ90-3	.	M	441;442;442;446	ENSP00000314048:I441M;ENSP00000348453:I442M;ENSP00000440981:I442M	ENSP00000314048:I441M	I	-	3	3	ANO2	5723600	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.910000	0.28571	1.444000	0.47605	0.655000	0.94253	ATC	ANO2	-	pfam_Anoctamin	ENSG00000047617		0.537	ANO2-001	KNOWN	basic	protein_coding	ANO2	HGNC	protein_coding	OTTHUMT00000399019.4	33	0.00	0	G	NM_020373		5853339	5853339	-1	no_errors	ENST00000356134	ensembl	human	known	69_37n	missense	11	38.89	7	SNP	1.000	C
ANKS1B	56899	genome.wustl.edu	37	12	99288516	99288516	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:99288516C>G	ENST00000547776.2	-	18	2778				ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000549493.2_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000341752.7_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCCGTTGCCTCTGTGCATCTT	0.746																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2779-62602G>C	12.37:g.99288516C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	RNA	SNP	-	NULL	ENST00000547776.2	37	NULL	CCDS55872.1	12																																																																																			ANKS1B	-	-	ENSG00000185046		0.746	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	10	0.00	0	C	NM_020140		99288516	99288516	-1	no_errors	ENST00000549797	ensembl	human	known	69_37n	rna	1	83.33	5	SNP	1.000	G
ANKS1B	56899	genome.wustl.edu	37	12	99288516	99288516	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:99288516C>G	ENST00000547776.2	-	18	2778				ANKS1B_ENST00000332712.7_Intron|ANKS1B_ENST00000333732.7_5'UTR|ANKS1B_ENST00000549493.2_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000550693.2_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549025.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000341752.7_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B							cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GCCGTTGCCTCTGTGCATCTT	0.746																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2779-62602G>C	12.37:g.99288516C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	RNA	SNP	-	NULL	ENST00000547776.2	37	NULL	CCDS55872.1	12																																																																																			ANKS1B	-	-	ENSG00000185046		0.746	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	ANKS1B	HGNC	protein_coding	OTTHUMT00000408421.3	12	0.00	0	C	NM_020140		99288516	99288516	-1	no_errors	ENST00000549797	ensembl	human	known	69_37n	rna	1	83.33	5	SNP	1.000	G
ANTXRL	195977	genome.wustl.edu	37	10	47668693	47668693	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:47668693G>T	ENST00000447511.2	+	7	902	c.637G>T	c.(637-639)Gat>Tat	p.D213Y	ANTXRL_ENST00000537271.1_Missense_Mutation_p.D213Y	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	213	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										GGGTGTGGCTGATTATAATCT	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.637G>T	10.37:g.47668693G>T	ENSP00000455449:p.Asp213Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BPS2	Missense_Mutation	SNP	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D213Y	ENST00000447511.2	37	c.637		10																																																																																			ANTXRL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000198250		0.517	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	HGNC	protein_coding	OTTHUMT00000047862.2	65	0.00	0	G	XM_113625		47668693	47668693	+1	no_errors	ENST00000537271	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.001	T
ANTXRL	195977	genome.wustl.edu	37	10	47668693	47668693	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:47668693G>T	ENST00000447511.2	+	7	902	c.637G>T	c.(637-639)Gat>Tat	p.D213Y	ANTXRL_ENST00000537271.1_Missense_Mutation_p.D213Y	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	213	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										GGGTGTGGCTGATTATAATCT	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.637G>T	10.37:g.47668693G>T	ENSP00000455449:p.Asp213Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BPS2	Missense_Mutation	SNP	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D213Y	ENST00000447511.2	37	c.637		10																																																																																			ANTXRL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000198250		0.517	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	HGNC	protein_coding	OTTHUMT00000047862.2	50	0.00	0	G	XM_113625		47668693	47668693	+1	no_errors	ENST00000537271	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.001	T
APBB3	10307	genome.wustl.edu	37	5	139940226	139940226	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:139940226G>C	ENST00000357560.4	-	11	1473	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	APBB3_ENST00000358580.5_Intron|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.Q342E|APBB3_ENST00000508496.2_Missense_Mutation_p.Q121E|APBB3_ENST00000356738.2_Missense_Mutation_p.Q349E|APBB3_ENST00000354402.5_Missense_Mutation_p.Q351E|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	344	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTACCTGAATGGGGTGT	0.597																																						dbGAP											0													57.0	48.0	51.0					5																	139940226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1030C>G	5.37:g.139940226G>C	ENSP00000350171:p.Gln344Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.Q349E	ENST00000357560.4	37	c.1045	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002848	0.19121	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.96	4.96	0.65561	.	0.200086	0.45361	D	0.000375	T	0.14830	0.0358	L	0.43152	1.355	0.80722	D	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.04961	-1.0915	9	.	.	.	-12.131	11.9285	0.52833	0.0:0.2892:0.7108:0.0	.	342;349	O95704-2;O95704-3	.;.	E	349;351;344;121;342	ENSP00000349177:Q349E;ENSP00000346378:Q351E;ENSP00000350171:Q344E;ENSP00000444013:Q121E;ENSP00000402591:Q342E	.	Q	-	1	0	APBB3	139920410	0.751000	0.28327	1.000000	0.80357	0.933000	0.57130	1.021000	0.30040	2.579000	0.87056	0.655000	0.94253	CAG	APBB3	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000113108		0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	61	0.00	0	G	NM_006051		139940226	139940226	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.887	C
APBB3	10307	genome.wustl.edu	37	5	139940226	139940226	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:139940226G>C	ENST00000357560.4	-	11	1473	c.1030C>G	c.(1030-1032)Cag>Gag	p.Q344E	APBB3_ENST00000358580.5_Intron|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.Q342E|APBB3_ENST00000508496.2_Missense_Mutation_p.Q121E|APBB3_ENST00000356738.2_Missense_Mutation_p.Q349E|APBB3_ENST00000354402.5_Missense_Mutation_p.Q351E|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	344	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGTACCTGAATGGGGTGT	0.597																																						dbGAP											0													57.0	48.0	51.0					5																	139940226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1030C>G	5.37:g.139940226G>C	ENSP00000350171:p.Gln344Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.Q349E	ENST00000357560.4	37	c.1045	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	G	9.096	1.002848	0.19121	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	4.96	4.96	0.65561	.	0.200086	0.45361	D	0.000375	T	0.14830	0.0358	L	0.43152	1.355	0.80722	D	1	B;B	0.12630	0.005;0.006	B;B	0.06405	0.001;0.002	T	0.04961	-1.0915	9	.	.	.	-12.131	11.9285	0.52833	0.0:0.2892:0.7108:0.0	.	342;349	O95704-2;O95704-3	.;.	E	349;351;344;121;342	ENSP00000349177:Q349E;ENSP00000346378:Q351E;ENSP00000350171:Q344E;ENSP00000444013:Q121E;ENSP00000402591:Q342E	.	Q	-	1	0	APBB3	139920410	0.751000	0.28327	1.000000	0.80357	0.933000	0.57130	1.021000	0.30040	2.579000	0.87056	0.655000	0.94253	CAG	APBB3	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000113108		0.597	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	37	0.00	0	G	NM_006051		139940226	139940226	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.887	C
APBB3	10307	genome.wustl.edu	37	5	139940249	139940249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:139940249G>C	ENST00000357560.4	-	11	1450	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	APBB3_ENST00000358580.5_Intron|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.S334C|APBB3_ENST00000508496.2_Missense_Mutation_p.S113C|APBB3_ENST00000356738.2_Missense_Mutation_p.S341C|APBB3_ENST00000354402.5_Missense_Mutation_p.S343C|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	336	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCATGAGAGAGTCAGACAC	0.607																																						dbGAP											0													69.0	60.0	63.0					5																	139940249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1007C>G	5.37:g.139940249G>C	ENSP00000350171:p.Ser336Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.S341C	ENST00000357560.4	37	c.1022	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604035	0.46423	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.96	4.07	0.47477	.	0.466924	0.23209	N	0.050687	T	0.26340	0.0643	L	0.52905	1.665	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.48952	0.471;0.596	T	0.01635	-1.1307	9	.	.	.	-8.0119	9.7209	0.40302	0.0744:0.2678:0.6578:0.0	.	334;341	O95704-2;O95704-3	.;.	C	341;343;336;113;334	ENSP00000349177:S341C;ENSP00000346378:S343C;ENSP00000350171:S336C;ENSP00000444013:S113C;ENSP00000402591:S334C	.	S	-	2	0	APBB3	139920433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.653000	0.67967	1.277000	0.44412	0.655000	0.94253	TCT	APBB3	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000113108		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	58	0.00	0	G	NM_006051		139940249	139940249	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.959	C
APBB3	10307	genome.wustl.edu	37	5	139940249	139940249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:139940249G>C	ENST00000357560.4	-	11	1450	c.1007C>G	c.(1006-1008)tCt>tGt	p.S336C	APBB3_ENST00000358580.5_Intron|APBB3_ENST00000507279.1_5'Flank|APBB3_ENST00000511201.2_Intron|APBB3_ENST00000412920.3_Missense_Mutation_p.S334C|APBB3_ENST00000508496.2_Missense_Mutation_p.S113C|APBB3_ENST00000356738.2_Missense_Mutation_p.S341C|APBB3_ENST00000354402.5_Missense_Mutation_p.S343C|SRA1_ENST00000520427.1_5'Flank|SRA1_ENST00000336283.6_5'Flank	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	336	PID 2. {ECO:0000255|PROSITE- ProRule:PRU00148}.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCATGAGAGAGTCAGACAC	0.607																																						dbGAP											0													69.0	60.0	63.0					5																	139940249		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018247	CCDS4227.1, CCDS4228.1, CCDS4229.1, CCDS47279.1	5q31	2008-02-05			ENSG00000113108	ENSG00000113108			20708	protein-coding gene	gene with protein product		602711				9407065	Standard	NM_133172		Approved	FE65L2	uc003lgd.1	O95704	OTTHUMG00000129504	ENST00000357560.4:c.1007C>G	5.37:g.139940249G>C	ENSP00000350171:p.Ser336Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN9|Q08AG4|Q96Q18|Q9BYD4|Q9NYX6|Q9NYX7|Q9NYX8	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.S341C	ENST00000357560.4	37	c.1022	CCDS4229.1	5	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604035	0.46423	.	.	ENSG00000113108	ENST00000356738;ENST00000354402;ENST00000357560;ENST00000508496;ENST00000412920	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	4.96	4.07	0.47477	.	0.466924	0.23209	N	0.050687	T	0.26340	0.0643	L	0.52905	1.665	0.80722	D	1	D;D	0.53151	0.958;0.958	P;P	0.48952	0.471;0.596	T	0.01635	-1.1307	9	.	.	.	-8.0119	9.7209	0.40302	0.0744:0.2678:0.6578:0.0	.	334;341	O95704-2;O95704-3	.;.	C	341;343;336;113;334	ENSP00000349177:S341C;ENSP00000346378:S343C;ENSP00000350171:S336C;ENSP00000444013:S113C;ENSP00000402591:S334C	.	S	-	2	0	APBB3	139920433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.653000	0.67967	1.277000	0.44412	0.655000	0.94253	TCT	APBB3	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	ENSG00000113108		0.607	APBB3-003	KNOWN	basic|CCDS	protein_coding	APBB3	HGNC	protein_coding	OTTHUMT00000251677.2	32	0.00	0	G	NM_006051		139940249	139940249	-1	no_errors	ENST00000356738	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.959	C
AQP3	360	genome.wustl.edu	37	9	33441702	33441703	+	3'UTR	INS	-	-	C	rs564578465|rs368173342|rs58994930		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:33441702_33441703insC	ENST00000297991.4	-	0	1297_1298				AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)						excretion (GO:0007588)|odontogenesis (GO:0042476)|positive regulation of immune system process (GO:0002684)|regulation of keratinocyte differentiation (GO:0045616)|renal water absorption (GO:0070295)|response to calcium ion (GO:0051592)|response to retinoic acid (GO:0032526)|response to vitamin D (GO:0033280)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urea transport (GO:0015840)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|transporter activity (GO:0005215)|water channel activity (GO:0015250)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		ATATCTGGGAACCCCCCCcaca	0.564																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS6542.1	9p13	2014-07-18	2006-02-23		ENSG00000165272	ENSG00000165272		"""Ion channels / Aquaporins"", ""Blood group antigens"""	636	protein-coding gene	gene with protein product	"""Gill blood group"""	600170	"""aquaporin 3"", ""aquaporin 3 (GIL blood group)"""			7558005	Standard	NM_004925		Approved	GIL	uc003zsx.3	Q92482	OTTHUMG00000019769	ENST00000297991.4:c.*339->G	9.37:g.33441710_33441710dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K843|B2RE16|D3DRL3|O00108|Q6FGT2|Q6FGW6	RNA	INS	-	NULL	ENST00000297991.4	37	NULL	CCDS6542.1	9																																																																																			AQP3	-	-	ENSG00000165272		0.564	AQP3-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	AQP3	HGNC	protein_coding	OTTHUMT00000052055.1	8	0.00	0	-	NM_004925		33441702	33441703	-1	no_errors	ENST00000493581	ensembl	human	known	69_37n	rna	4	50.00	4	INS	0.538:0.004	C
ARFRP1	10139	genome.wustl.edu	37	20	62338084	62338085	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:62338084_62338085GG>TA	ENST00000359715.5	-	2	665_666	c.99_100CC>TA	c.(97-102)ttCCtg>ttTAtg	p.L34M	ZGPAT_ENST00000328969.5_5'Flank|ARFRP1_ENST00000440854.1_Missense_Mutation_p.L34M|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_De_novo_Start_InFrame|ARFRP1_ENST00000324228.2_Missense_Mutation_p.L34M|ZGPAT_ENST00000369967.3_5'Flank|ARFRP1_ENST00000609142.1_Missense_Mutation_p.L34M|ZGPAT_ENST00000448100.2_5'Flank|ZGPAT_ENST00000355969.6_5'Flank|ZGPAT_ENST00000357119.4_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	34					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			GACTGCTCCAGGAAGGTCTGAG	0.47																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.99_100delinsTA	20.37:g.62338084_62338085delinsTA	ENSP00000352746:p.Leu34Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation|Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.L34M|p.F33	ENST00000359715.5	37	c.100|c.99	CCDS13533.1	20																																																																																			ARFRP1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000101246		0.470	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFRP1	HGNC	protein_coding	OTTHUMT00000472024.1	89|87	0.00	0	G			62338084|62338085	62338084|62338085	-1	no_errors	ENST00000324228	ensembl	human	known	69_37n	missense|silent	96|95	13.51|13.64	15	SNP	1.000	T|A
ARFRP1	10139	genome.wustl.edu	37	20	62338084	62338085	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:62338084_62338085GG>TA	ENST00000359715.5	-	2	665_666	c.99_100CC>TA	c.(97-102)ttCCtg>ttTAtg	p.L34M	ZGPAT_ENST00000328969.5_5'Flank|ARFRP1_ENST00000440854.1_Missense_Mutation_p.L34M|RP4-583P15.15_ENST00000490623.2_5'Flank|ARFRP1_ENST00000607873.1_De_novo_Start_InFrame|ARFRP1_ENST00000324228.2_Missense_Mutation_p.L34M|ZGPAT_ENST00000369967.3_5'Flank|ARFRP1_ENST00000609142.1_Missense_Mutation_p.L34M|ZGPAT_ENST00000448100.2_5'Flank|ZGPAT_ENST00000355969.6_5'Flank|ZGPAT_ENST00000357119.4_5'Flank			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	34					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			GACTGCTCCAGGAAGGTCTGAG	0.47																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.99_100delinsTA	20.37:g.62338084_62338085delinsTA	ENSP00000352746:p.Leu34Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation|Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.L34M|p.F33	ENST00000359715.5	37	c.100|c.99	CCDS13533.1	20																																																																																			ARFRP1	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	ENSG00000101246		0.470	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFRP1	HGNC	protein_coding	OTTHUMT00000472024.1	92|91	0.00	0	G			62338084|62338085	62338084|62338085	-1	no_errors	ENST00000324228	ensembl	human	known	69_37n	missense|silent	96|95	13.51|13.64	15	SNP	1.000	T|A
ARHGAP30	257106	genome.wustl.edu	37	1	161017609	161017609	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:161017609G>A	ENST00000368013.3	-	12	3522	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.L891L|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Silent_p.L857L|USF1_ENST00000368020.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1068					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGGGGGGCAGACTAAGACGA	0.572																																						dbGAP											0													70.0	76.0	74.0					1																	161017609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3202C>T	1.37:g.161017609G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L1068	ENST00000368013.3	37	c.3202	CCDS30918.1	1																																																																																			ARHGAP30	-	NULL	ENSG00000186517		0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	21	0.00	0	G	NM_181720		161017609	161017609	-1	no_errors	ENST00000368013	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	1.000	A
ARHGAP30	257106	genome.wustl.edu	37	1	161017609	161017609	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:161017609G>A	ENST00000368013.3	-	12	3522	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_Silent_p.L891L|USF1_ENST00000435396.1_5'Flank|ARHGAP30_ENST00000368016.3_Silent_p.L857L|USF1_ENST00000368020.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	1068					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTGGGGGGCAGACTAAGACGA	0.572																																						dbGAP											0													70.0	76.0	74.0					1																	161017609		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.3202C>T	1.37:g.161017609G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L1068	ENST00000368013.3	37	c.3202	CCDS30918.1	1																																																																																			ARHGAP30	-	NULL	ENSG00000186517		0.572	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	20	0.00	0	G	NM_181720		161017609	161017609	-1	no_errors	ENST00000368013	ensembl	human	known	69_37n	silent	20	25.93	7	SNP	1.000	A
ARHGEF12	23365	genome.wustl.edu	37	11	120350701	120350701	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:120350701C>G	ENST00000397843.2	+	38	3965	c.3799C>G	c.(3799-3801)Cta>Gta	p.L1267V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L1164V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L1248V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1267					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1267L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGTGCAACAGCTAGGTTTGAC	0.463			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)											132.0	121.0	124.0					11																	120350701		1867	4099	5966	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3799C>G	11.37:g.120350701C>G	ENSP00000380942:p.Leu1267Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1248V	ENST00000397843.2	37	c.3742	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128196	0.56721	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.76448	-0.92;-1.02;-0.87	5.74	3.49	0.39957	.	0.000000	0.38605	N	0.001626	T	0.80560	0.4646	L	0.34521	1.04	0.37093	D	0.899516	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.82034	-0.0657	10	0.62326	D	0.03	-3.1912	10.4357	0.44435	0.0:0.8182:0.0:0.1818	.	1248;1267	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	V	1267;1248;1164	ENSP00000380942:L1267V;ENSP00000349056:L1248V;ENSP00000432984:L1164V	ENSP00000349056:L1248V	L	+	1	2	ARHGEF12	119855911	1.000000	0.71417	0.535000	0.28026	0.593000	0.36681	2.769000	0.47654	0.524000	0.28502	0.650000	0.86243	CTA	ARHGEF12	-	NULL	ENSG00000196914		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	86	0.00	0	C	NM_015313		120350701	120350701	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	1.000	G
ARHGEF12	23365	genome.wustl.edu	37	11	120350701	120350701	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:120350701C>G	ENST00000397843.2	+	38	3965	c.3799C>G	c.(3799-3801)Cta>Gta	p.L1267V	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.L1164V|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.L1248V	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1267					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1267L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGTGCAACAGCTAGGTTTGAC	0.463			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)											132.0	121.0	124.0					11																	120350701		1867	4099	5966	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3799C>G	11.37:g.120350701C>G	ENSP00000380942:p.Leu1267Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1248V	ENST00000397843.2	37	c.3742	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	16.46	3.128196	0.56721	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.76448	-0.92;-1.02;-0.87	5.74	3.49	0.39957	.	0.000000	0.38605	N	0.001626	T	0.80560	0.4646	L	0.34521	1.04	0.37093	D	0.899516	D;D	0.71674	0.998;0.997	D;D	0.83275	0.996;0.991	T	0.82034	-0.0657	10	0.62326	D	0.03	-3.1912	10.4357	0.44435	0.0:0.8182:0.0:0.1818	.	1248;1267	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	V	1267;1248;1164	ENSP00000380942:L1267V;ENSP00000349056:L1248V;ENSP00000432984:L1164V	ENSP00000349056:L1248V	L	+	1	2	ARHGEF12	119855911	1.000000	0.71417	0.535000	0.28026	0.593000	0.36681	2.769000	0.47654	0.524000	0.28502	0.650000	0.86243	CTA	ARHGEF12	-	NULL	ENSG00000196914		0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	97	0.00	0	C	NM_015313		120350701	120350701	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	1.000	G
ARHGEF12	23365	genome.wustl.edu	37	11	120352198	120352198	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:120352198G>C	ENST00000397843.2	+	39	4633	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1386D|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1470D	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1489					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTGTTTTGAGATCCAGAGTC	0.473			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													88.0	91.0	90.0					11																	120352198		1930	4146	6076	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4467G>C	11.37:g.120352198G>C	ENSP00000380942:p.Glu1489Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1470D	ENST00000397843.2	37	c.4410	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566362	0.27915	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67345	-0.16;-0.26;-0.15	6.08	5.1	0.69264	.	0.506603	0.16563	N	0.208957	T	0.42108	0.1188	N	0.14661	0.345	0.21579	N	0.999638	B	0.26672	0.156	B	0.19666	0.026	T	0.16660	-1.0395	10	0.15499	T	0.54	-14.58	5.6413	0.17565	0.0764:0.115:0.609:0.1995	.	1489	Q9NZN5	ARHGC_HUMAN	D	1489;1470;1386	ENSP00000380942:E1489D;ENSP00000349056:E1470D;ENSP00000432984:E1386D	ENSP00000349056:E1470D	E	+	3	2	ARHGEF12	119857408	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	0.544000	0.23253	2.890000	0.99128	0.655000	0.94253	GAG	ARHGEF12	-	NULL	ENSG00000196914		0.473	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	89	0.00	0	G	NM_015313		120352198	120352198	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.987	C
ARHGEF12	23365	genome.wustl.edu	37	11	120352198	120352198	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:120352198G>C	ENST00000397843.2	+	39	4633	c.4467G>C	c.(4465-4467)gaG>gaC	p.E1489D	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E1386D|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E1470D	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1489					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCTGTTTTGAGATCCAGAGTC	0.473			T	MLL	AML																																	dbGAP		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0													88.0	91.0	90.0					11																	120352198		1930	4146	6076	-	-	-	SO:0001583	missense	0			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.4467G>C	11.37:g.120352198G>C	ENSP00000380942:p.Glu1489Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15086|Q6P526	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E1470D	ENST00000397843.2	37	c.4410	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566362	0.27915	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67345	-0.16;-0.26;-0.15	6.08	5.1	0.69264	.	0.506603	0.16563	N	0.208957	T	0.42108	0.1188	N	0.14661	0.345	0.21579	N	0.999638	B	0.26672	0.156	B	0.19666	0.026	T	0.16660	-1.0395	10	0.15499	T	0.54	-14.58	5.6413	0.17565	0.0764:0.115:0.609:0.1995	.	1489	Q9NZN5	ARHGC_HUMAN	D	1489;1470;1386	ENSP00000380942:E1489D;ENSP00000349056:E1470D;ENSP00000432984:E1386D	ENSP00000349056:E1470D	E	+	3	2	ARHGEF12	119857408	0.970000	0.33590	1.000000	0.80357	0.998000	0.95712	0.544000	0.23253	2.890000	0.99128	0.655000	0.94253	GAG	ARHGEF12	-	NULL	ENSG00000196914		0.473	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	HGNC	protein_coding	OTTHUMT00000388052.1	75	0.00	0	G	NM_015313		120352198	120352198	+1	no_errors	ENST00000356641	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	0.987	C
ASB4	51666	genome.wustl.edu	37	7	95115434	95115434	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:95115434G>C	ENST00000325885.5	+	1	222	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E51Q|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	51					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTTGAAGTCGAAGATGAGAA	0.333																																						dbGAP											0													88.0	91.0	90.0					7																	95115434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.151G>C	7.37:g.95115434G>C	ENSP00000321388:p.Glu51Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.E51Q	ENST00000325885.5	37	c.151	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047921	0.75846	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.50277	0.98;0.75	5.17	5.17	0.71159	Ankyrin repeat-containing domain (1);	0.236455	0.42821	D	0.000657	T	0.55257	0.1909	L	0.27053	0.805	0.58432	D	0.999994	B;D	0.89917	0.116;1.0	B;D	0.91635	0.031;0.999	T	0.39522	-0.9610	10	0.12430	T	0.62	-39.1688	19.3004	0.94141	0.0:0.0:1.0:0.0	.	51;51	Q9Y574;Q14D68	ASB4_HUMAN;.	Q	51	ENSP00000321388:E51Q;ENSP00000397070:E51Q	ENSP00000321388:E51Q	E	+	1	0	ASB4	94953370	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.431000	0.90285	2.878000	0.98634	0.650000	0.86243	GAA	ASB4	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000005981		0.333	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	47	0.00	0	G	NM_016116		95115434	95115434	+1	no_errors	ENST00000325885	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	C
ASB4	51666	genome.wustl.edu	37	7	95115434	95115434	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:95115434G>C	ENST00000325885.5	+	1	222	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	ASB4_ENST00000428113.1_Missense_Mutation_p.E51Q|ASB4_ENST00000257621.4_Intron	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	51					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTTGAAGTCGAAGATGAGAA	0.333																																						dbGAP											0													88.0	91.0	90.0					7																	95115434		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.151G>C	7.37:g.95115434G>C	ENSP00000321388:p.Glu51Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1H6|O14586|Q14D68|Q8TBT2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.E51Q	ENST00000325885.5	37	c.151	CCDS5641.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047921	0.75846	.	.	ENSG00000005981	ENST00000325885;ENST00000428113	T;T	0.50277	0.98;0.75	5.17	5.17	0.71159	Ankyrin repeat-containing domain (1);	0.236455	0.42821	D	0.000657	T	0.55257	0.1909	L	0.27053	0.805	0.58432	D	0.999994	B;D	0.89917	0.116;1.0	B;D	0.91635	0.031;0.999	T	0.39522	-0.9610	10	0.12430	T	0.62	-39.1688	19.3004	0.94141	0.0:0.0:1.0:0.0	.	51;51	Q9Y574;Q14D68	ASB4_HUMAN;.	Q	51	ENSP00000321388:E51Q;ENSP00000397070:E51Q	ENSP00000321388:E51Q	E	+	1	0	ASB4	94953370	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.431000	0.90285	2.878000	0.98634	0.650000	0.86243	GAA	ASB4	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000005981		0.333	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB4	HGNC	protein_coding	OTTHUMT00000333225.2	37	0.00	0	G	NM_016116		95115434	95115434	+1	no_errors	ENST00000325885	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	1.000	C
ARHGEF35	445328	genome.wustl.edu	37	7	143885236	143885236	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:143885236C>G	ENST00000378115.2	-	2	370	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.E81Q	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	81										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCAGAACCTTCCTTGGGAAAA	0.542																																						dbGAP											0													1.0	1.0	1.0					7																	143885236		370	788	1158	-	-	-	SO:0001583	missense	0			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.241G>C	7.37:g.143885236C>G	ENSP00000367355:p.Glu81Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUI2	Missense_Mutation	SNP	NULL	p.E81Q	ENST00000378115.2	37	c.241	CCDS34770.1	7	.	.	.	.	.	.	.	.	.	.	.	10.12	1.262274	0.23051	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	T	0.24624	0.0597	L	0.32530	0.975	0.09310	N	1	D	0.59357	0.985	P	0.46389	0.515	T	0.11372	-1.0590	8	0.66056	D	0.02	.	4.774	0.13169	0.0:0.8014:0.0:0.1986	.	81	A5YM69	ARG35_HUMAN	Q	81	.	ENSP00000367355:E81Q	E	-	1	0	ARHGEF35	143516169	0.007000	0.16637	0.001000	0.08648	0.299000	0.27559	0.591000	0.23969	0.404000	0.25506	0.184000	0.17185	GAA	ARHGEF35	-	NULL	ENSG00000213214		0.542	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF35	HGNC	protein_coding	OTTHUMT00000349997.1	10	0.00	0	C	NM_001003702		143885236	143885236	-1	no_errors	ENST00000378115	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.004	G
ARHGEF35	445328	genome.wustl.edu	37	7	143885236	143885236	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:143885236C>G	ENST00000378115.2	-	2	370	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	ARHGEF35_ENST00000543357.1_Missense_Mutation_p.E81Q	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	81										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						GCAGAACCTTCCTTGGGAAAA	0.542																																						dbGAP											0													1.0	1.0	1.0					7																	143885236		370	788	1158	-	-	-	SO:0001583	missense	0			AK125680	CCDS34770.1	7q35	2012-07-24	2010-04-13	2010-04-13	ENSG00000213214	ENSG00000213214		"""Rho guanine nucleotide exchange factors"""	33846	protein-coding gene	gene with protein product			"""Rho guanine nucleotide exchange factor (GEF) 5-like"""	ARHGEF5L			Standard	NM_001003702		Approved	FLJ43692, CTAGE4	uc003wdz.2	A5YM69	OTTHUMG00000158010	ENST00000378115.2:c.241G>C	7.37:g.143885236C>G	ENSP00000367355:p.Glu81Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZUI2	Missense_Mutation	SNP	NULL	p.E81Q	ENST00000378115.2	37	c.241	CCDS34770.1	7	.	.	.	.	.	.	.	.	.	.	.	10.12	1.262274	0.23051	.	.	ENSG00000213214	ENST00000378115;ENST00000543357	.	.	.	2.62	1.68	0.24146	.	.	.	.	.	T	0.24624	0.0597	L	0.32530	0.975	0.09310	N	1	D	0.59357	0.985	P	0.46389	0.515	T	0.11372	-1.0590	8	0.66056	D	0.02	.	4.774	0.13169	0.0:0.8014:0.0:0.1986	.	81	A5YM69	ARG35_HUMAN	Q	81	.	ENSP00000367355:E81Q	E	-	1	0	ARHGEF35	143516169	0.007000	0.16637	0.001000	0.08648	0.299000	0.27559	0.591000	0.23969	0.404000	0.25506	0.184000	0.17185	GAA	ARHGEF35	-	NULL	ENSG00000213214		0.542	ARHGEF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF35	HGNC	protein_coding	OTTHUMT00000349997.1	9	0.00	0	C	NM_001003702		143885236	143885236	-1	no_errors	ENST00000378115	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.004	G
ASGR2	433	genome.wustl.edu	37	17	7010407	7010407	+	Missense_Mutation	SNP	G	G	C	rs376818183		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:7010407G>C	ENST00000380952.2	-	7	839	c.575C>G	c.(574-576)tCt>tGt	p.S192C	ASGR2_ENST00000254850.7_Missense_Mutation_p.S168C|ASGR2_ENST00000446679.2_Missense_Mutation_p.S173C|ASGR2_ENST00000355035.5_Missense_Mutation_p.S192C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	192	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCCGGAGTGAGAGAACCAGTA	0.642																																						dbGAP											0													105.0	93.0	97.0					17																	7010407		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.575C>G	17.37:g.7010407G>C	ENSP00000370339:p.Ser192Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S192C	ENST00000380952.2	37	c.575	CCDS32544.1	17	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976281	0.53720	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.43747	D	0.000523	T	0.59348	0.2187	H	0.96861	3.895	0.33339	D	0.56958	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.79235	-0.1887	10	0.72032	D	0.01	.	12.9277	0.58270	0.0:0.0:1.0:0.0	.	168;192;187;173;192	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	C	192;168;192;173	ENSP00000347140:S192C;ENSP00000254850:S168C;ENSP00000370339:S192C;ENSP00000405844:S173C	ENSP00000254850:S168C	S	-	2	0	ASGR2	6951131	1.000000	0.71417	0.913000	0.36048	0.568000	0.35870	4.196000	0.58407	2.175000	0.68902	0.609000	0.83330	TCT	ASGR2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000161944		0.642	ASGR2-201	KNOWN	basic|CCDS	protein_coding	ASGR2	HGNC	protein_coding	OTTHUMT00000220003.1	57	0.00	0	G	NM_080914		7010407	7010407	-1	no_errors	ENST00000355035	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.961	C
ASGR2	433	genome.wustl.edu	37	17	7010407	7010407	+	Missense_Mutation	SNP	G	G	C	rs376818183		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:7010407G>C	ENST00000380952.2	-	7	839	c.575C>G	c.(574-576)tCt>tGt	p.S192C	ASGR2_ENST00000254850.7_Missense_Mutation_p.S168C|ASGR2_ENST00000446679.2_Missense_Mutation_p.S173C|ASGR2_ENST00000355035.5_Missense_Mutation_p.S192C	NM_001181.4|NM_001201352.1|NM_080912.3	NP_001172|NP_001188281.1|NP_550434	P07307	ASGR2_HUMAN	asialoglycoprotein receptor 2	192	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cell surface receptor signaling pathway (GO:0007166)|glycoprotein metabolic process (GO:0009100)|lipid homeostasis (GO:0055088)|receptor-mediated endocytosis (GO:0006898)|regulation of protein stability (GO:0031647)	integral component of membrane (GO:0016021)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	CCCGGAGTGAGAGAACCAGTA	0.642																																						dbGAP											0													105.0	93.0	97.0					17																	7010407		2203	4300	6503	-	-	-	SO:0001583	missense	0			M11025	CCDS11088.1, CCDS32544.1, CCDS45598.1	17p	2011-08-30			ENSG00000161944	ENSG00000161944		"""C-type lectin domain containing"""	743	protein-coding gene	gene with protein product		108361				3863106	Standard	NM_080912		Approved	CLEC4H2	uc002ger.3	P07307	OTTHUMG00000102158	ENST00000380952.2:c.575C>G	17.37:g.7010407G>C	ENSP00000370339:p.Ser192Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLV8|A8MT12|D3DTM9|D3DTN0|O00448|Q03969	Missense_Mutation	SNP	pfam_Lectin_N,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S192C	ENST00000380952.2	37	c.575	CCDS32544.1	17	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976281	0.53720	.	.	ENSG00000161944	ENST00000355035;ENST00000254850;ENST00000380952;ENST00000446679	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	4.45	4.45	0.53987	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.43747	D	0.000523	T	0.59348	0.2187	H	0.96861	3.895	0.33339	D	0.56958	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.79235	-0.1887	10	0.72032	D	0.01	.	12.9277	0.58270	0.0:0.0:1.0:0.0	.	168;192;187;173;192	P07307-3;P07307;Q7Z4G9;P07307-2;D3DTN0	.;ASGR2_HUMAN;.;.;.	C	192;168;192;173	ENSP00000347140:S192C;ENSP00000254850:S168C;ENSP00000370339:S192C;ENSP00000405844:S173C	ENSP00000254850:S168C	S	-	2	0	ASGR2	6951131	1.000000	0.71417	0.913000	0.36048	0.568000	0.35870	4.196000	0.58407	2.175000	0.68902	0.609000	0.83330	TCT	ASGR2	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	ENSG00000161944		0.642	ASGR2-201	KNOWN	basic|CCDS	protein_coding	ASGR2	HGNC	protein_coding	OTTHUMT00000220003.1	51	0.00	0	G	NM_080914		7010407	7010407	-1	no_errors	ENST00000355035	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.961	C
ASTN1	460	genome.wustl.edu	37	1	176926845	176926845	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:176926845G>A	ENST00000367654.3	-	11	2091	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	ASTN1_ENST00000424564.2_Missense_Mutation_p.S619L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S619L|ASTN1_ENST00000367657.3_Missense_Mutation_p.S619L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	627	EGF-like 2.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGCGATCTGAAATACAGCG	0.542																																						dbGAP											0													86.0	82.0	83.0					1																	176926845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1880C>T	1.37:g.176926845G>A	ENSP00000356626:p.Ser627Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.S627L	ENST00000367654.3	37	c.1880		1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531112	0.85706	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87256	-2.23;-2.23;2.64;-2.23	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.122641	0.56097	D	0.000023	D	0.83834	0.5340	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30686	0.29;0.069;0.069	B;B;B	0.34536	0.185;0.034;0.034	T	0.83129	-0.0114	10	0.87932	D	0	-12.7863	19.1684	0.93567	0.0:0.0:1.0:0.0	.	627;619;619	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	619;619;627;619;619	ENSP00000356629:S619L;ENSP00000354536:S619L;ENSP00000356626:S627L;ENSP00000395041:S619L	ENSP00000354536:S619L	S	-	2	0	ASTN1	175193468	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	TCA	ASTN1	-	smart_EGF-like	ENSG00000152092		0.542	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		38	0.00	0	G	NM_004319		176926845	176926845	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	41	17.65	9	SNP	1.000	A
ASTN1	460	genome.wustl.edu	37	1	176926845	176926845	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:176926845G>A	ENST00000367654.3	-	11	2091	c.1880C>T	c.(1879-1881)tCa>tTa	p.S627L	ASTN1_ENST00000424564.2_Missense_Mutation_p.S619L|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000361833.2_Missense_Mutation_p.S619L|ASTN1_ENST00000367657.3_Missense_Mutation_p.S619L	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	627	EGF-like 2.				locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTTGCGATCTGAAATACAGCG	0.542																																						dbGAP											0													86.0	82.0	83.0					1																	176926845		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1880C>T	1.37:g.176926845G>A	ENSP00000356626:p.Ser627Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.S627L	ENST00000367654.3	37	c.1880		1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531112	0.85706	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	D;D;T;D	0.87256	-2.23;-2.23;2.64;-2.23	5.58	5.58	0.84498	Epidermal growth factor-like (1);	0.122641	0.56097	D	0.000023	D	0.83834	0.5340	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30686	0.29;0.069;0.069	B;B;B	0.34536	0.185;0.034;0.034	T	0.83129	-0.0114	10	0.87932	D	0	-12.7863	19.1684	0.93567	0.0:0.0:1.0:0.0	.	627;619;619	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	L	619;619;627;619;619	ENSP00000356629:S619L;ENSP00000354536:S619L;ENSP00000356626:S627L;ENSP00000395041:S619L	ENSP00000354536:S619L	S	-	2	0	ASTN1	175193468	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.296000	0.96104	2.618000	0.88619	0.563000	0.77884	TCA	ASTN1	-	smart_EGF-like	ENSG00000152092		0.542	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		40	0.00	0	G	NM_004319		176926845	176926845	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	41	17.65	9	SNP	1.000	A
ATG9B	285973	genome.wustl.edu	37	7	150720301	150720301	+	Intron	SNP	G	G	A	rs201648573	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:150720301G>A	ENST00000494791.1	-	4	735				ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000605952.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCTGCCGGGAGGAAGGGGG	0.562																																						dbGAP											0													103.0	109.0	107.0					7																	150720301		2042	4188	6230	-	-	-	SO:0001627	intron_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.3837-8C>T	7.37:g.150720301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.562	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2	58	0.00	0	G	NM_173681		150720301	150720301	-1	no_errors	ENST00000473698	ensembl	human	known	69_37n	rna	27	34.15	14	SNP	0.007	A
ATG9B	285973	genome.wustl.edu	37	7	150720301	150720301	+	Intron	SNP	G	G	A	rs201648573	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:150720301G>A	ENST00000494791.1	-	4	735				ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000377974.2_Intron|ATG9B_ENST00000605952.1_Intron			Q674R7	ATG9B_HUMAN	autophagy related 9B						autophagic vacuole assembly (GO:0000045)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTCTGCCGGGAGGAAGGGGG	0.562																																						dbGAP											0													103.0	109.0	107.0					7																	150720301		2042	4188	6230	-	-	-	SO:0001627	intron_variant	0			AK027791		7q36	2014-02-12	2012-06-06	2005-09-11	ENSG00000181652	ENSG00000181652			21899	protein-coding gene	gene with protein product		612205	"""nitric oxide synthase 3 antisense"", ""ATG9 autophagy related 9 homolog B (S. cerevisiae)"""	NOS3AS		15234981, 15755735	Standard	NM_173681		Approved	FLJ14885, APG9L2, SONE	uc011kvc.2	Q674R7	OTTHUMG00000158634	ENST00000494791.1:c.3837-8C>T	7.37:g.150720301G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A5D3|Q6JRW5|Q8N8I8	RNA	SNP	-	NULL	ENST00000494791.1	37	NULL		7																																																																																			ATG9B	-	-	ENSG00000181652		0.562	ATG9B-001	KNOWN	non_canonical_U12|basic	processed_transcript	ATG9B	HGNC	protein_coding	OTTHUMT00000351543.2	47	0.00	0	G	NM_173681		150720301	150720301	-1	no_errors	ENST00000473698	ensembl	human	known	69_37n	rna	27	34.15	14	SNP	0.007	A
ATP10A	57194	genome.wustl.edu	37	15	25966966	25966966	+	Missense_Mutation	SNP	C	C	T	rs201206599		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:25966966C>T	ENST00000356865.6	-	7	1312	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	401					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E401K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTGTTTCTTCGTCATACAAC	0.418																																						dbGAP											1	Substitution - Missense(1)	NS(1)											137.0	125.0	129.0					15																	25966966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1201G>A	15.37:g.25966966C>T	ENSP00000349325:p.Glu401Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E401K	ENST00000356865.6	37	c.1201	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812495	0.50527	.	.	ENSG00000206190	ENST00000356865	T	0.47528	0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.55017	1.72	0.58432	D	0.999996	D	0.61697	0.99	P	0.56088	0.791	T	0.56709	-0.7934	10	0.40728	T	0.16	-19.9732	19.7649	0.96335	0.0:1.0:0.0:0.0	.	401	O60312	AT10A_HUMAN	K	401	ENSP00000349325:E401K	ENSP00000349325:E401K	E	-	1	0	ATP10A	23518059	1.000000	0.71417	0.109000	0.21407	0.129000	0.20672	5.752000	0.68728	2.673000	0.90976	0.643000	0.83706	GAA	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000206190		0.418	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	124	0.00	0	C	NM_024490		25966966	25966966	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	T
ATP10A	57194	genome.wustl.edu	37	15	25966966	25966966	+	Missense_Mutation	SNP	C	C	T	rs201206599		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:25966966C>T	ENST00000356865.6	-	7	1312	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	401					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E401K(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TCTGTTTCTTCGTCATACAAC	0.418																																						dbGAP											1	Substitution - Missense(1)	NS(1)											137.0	125.0	129.0					15																	25966966		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1201G>A	15.37:g.25966966C>T	ENSP00000349325:p.Glu401Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0S9|Q969I4	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E401K	ENST00000356865.6	37	c.1201	CCDS32178.1	15	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812495	0.50527	.	.	ENSG00000206190	ENST00000356865	T	0.47528	0.84	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.55017	1.72	0.58432	D	0.999996	D	0.61697	0.99	P	0.56088	0.791	T	0.56709	-0.7934	10	0.40728	T	0.16	-19.9732	19.7649	0.96335	0.0:1.0:0.0:0.0	.	401	O60312	AT10A_HUMAN	K	401	ENSP00000349325:E401K	ENSP00000349325:E401K	E	-	1	0	ATP10A	23518059	1.000000	0.71417	0.109000	0.21407	0.129000	0.20672	5.752000	0.68728	2.673000	0.90976	0.643000	0.83706	GAA	ATP10A	-	tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000206190		0.418	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10A	HGNC	protein_coding	OTTHUMT00000414830.1	118	0.00	0	C	NM_024490		25966966	25966966	-1	no_errors	ENST00000356865	ensembl	human	known	69_37n	missense	54	22.86	16	SNP	1.000	T
ATP10B	23120	genome.wustl.edu	37	5	160061445	160061445	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:160061445C>T	ENST00000327245.5	-	12	2143	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	433					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGTCTTATCGGAGAAGATG	0.488																																						dbGAP											0													143.0	142.0	142.0					5																	160061445		1987	4169	6156	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1297G>A	5.37:g.160061445C>T	ENSP00000313600:p.Asp433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D433N	ENST00000327245.5	37	c.1297	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874062	0.91664	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.96427	-4.01;-4.01	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.98567	1.0644	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	477;433;405;433	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	N	433;41	ENSP00000313600:D433N;ENSP00000431081:D41N	.	D	-	1	0	ATP10B	159994023	1.000000	0.71417	0.959000	0.39883	0.462000	0.32619	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	GAT	ATP10B	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000118322		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	28	0.00	0	C	NM_025153		160061445	160061445	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	T
ATP10B	23120	genome.wustl.edu	37	5	160061445	160061445	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:160061445C>T	ENST00000327245.5	-	12	2143	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	433					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCGTCTTATCGGAGAAGATG	0.488																																						dbGAP											0													143.0	142.0	142.0					5																	160061445		1987	4169	6156	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.1297G>A	5.37:g.160061445C>T	ENSP00000313600:p.Asp433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D433N	ENST00000327245.5	37	c.1297	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.874062	0.91664	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.96427	-4.01;-4.01	5.53	5.53	0.82687	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.98261	0.9424	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.98567	1.0644	9	.	.	.	.	18.4818	0.90815	0.0:1.0:0.0:0.0	.	477;433;405;433	B4DHG1;O94823-2;O94823-3;O94823	.;.;.;AT10B_HUMAN	N	433;41	ENSP00000313600:D433N;ENSP00000431081:D41N	.	D	-	1	0	ATP10B	159994023	1.000000	0.71417	0.959000	0.39883	0.462000	0.32619	7.726000	0.84824	2.605000	0.88082	0.655000	0.94253	GAT	ATP10B	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000118322		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	23	0.00	0	C	NM_025153		160061445	160061445	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	T
ATP1B1	481	genome.wustl.edu	37	1	169096637	169096637	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:169096637C>T	ENST00000367816.1	+	5	1087	c.558C>T	c.(556-558)ttC>ttT	p.F186F	ATP1B1_ENST00000499679.3_Silent_p.F130F|ATP1B1_ENST00000367813.3_Silent_p.F178F|ATP1B1_ENST00000367815.4_Silent_p.F186F			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	186					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TTCTAGGCTTCAAACCTAAGG	0.333																																						dbGAP											0													71.0	70.0	70.0					1																	169096637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.558C>T	1.37:g.169096637C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGZ3	Silent	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.F186	ENST00000367816.1	37	c.558	CCDS1276.1	1																																																																																			ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000143153		0.333	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	48	0.00	0	C			169096637	169096637	+1	no_errors	ENST00000367815	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	T
ATP1B1	481	genome.wustl.edu	37	1	169096637	169096637	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:169096637C>T	ENST00000367816.1	+	5	1087	c.558C>T	c.(556-558)ttC>ttT	p.F186F	ATP1B1_ENST00000499679.3_Silent_p.F130F|ATP1B1_ENST00000367813.3_Silent_p.F178F|ATP1B1_ENST00000367815.4_Silent_p.F186F			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	186					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TTCTAGGCTTCAAACCTAAGG	0.333																																						dbGAP											0													71.0	70.0	70.0					1																	169096637		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.558C>T	1.37:g.169096637C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TGZ3	Silent	SNP	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	p.F186	ENST00000367816.1	37	c.558	CCDS1276.1	1																																																																																			ATP1B1	-	pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu	ENSG00000143153		0.333	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ATP1B1	HGNC	protein_coding	OTTHUMT00000083696.1	39	0.00	0	C			169096637	169096637	+1	no_errors	ENST00000367815	ensembl	human	known	69_37n	silent	41	21.15	11	SNP	1.000	T
ATP2B4	493	genome.wustl.edu	37	1	203691759	203691759	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:203691759C>T	ENST00000357681.5	+	18	4089	c.2966C>T	c.(2965-2967)tCa>tTa	p.S989L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.S977L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S989L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S989L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S989L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	989					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AACGTCTTTTCAGGCATCTAC	0.463																																						dbGAP											0													149.0	127.0	135.0					1																	203691759		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2966C>T	1.37:g.203691759C>T	ENSP00000350310:p.Ser989Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.S989L	ENST00000357681.5	37	c.2966	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866939	0.51588	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.1	1.71	0.24356	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.456750	0.04332	N	0.352529	D	0.83695	0.5310	L	0.41632	1.29	0.21719	N	0.999571	B;B;B	0.23249	0.014;0.082;0.019	B;B;B	0.30495	0.033;0.116;0.023	T	0.70572	-0.4835	10	0.72032	D	0.01	0.228	6.4828	0.22073	0.4084:0.3579:0.2337:0.0	.	989;989;989	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	989;989;977;989;989	ENSP00000350310:S989L;ENSP00000356187:S989L;ENSP00000356188:S977L;ENSP00000375816:S989L;ENSP00000340930:S989L	ENSP00000340930:S989L	S	+	2	0	ATP2B4	201958382	0.738000	0.28186	0.025000	0.17156	0.968000	0.65278	3.961000	0.56759	0.499000	0.27970	0.655000	0.94253	TCA	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000058668		0.463	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	58	0.00	0	C	NM_001001396		203691759	203691759	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.930	T
ATP2B4	493	genome.wustl.edu	37	1	203691759	203691759	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:203691759C>T	ENST00000357681.5	+	18	4089	c.2966C>T	c.(2965-2967)tCa>tTa	p.S989L	ATP2B4_ENST00000367219.3_Missense_Mutation_p.S977L|ATP2B4_ENST00000367218.3_Missense_Mutation_p.S989L|ATP2B4_ENST00000391954.2_Missense_Mutation_p.S989L|ATP2B4_ENST00000341360.2_Missense_Mutation_p.S989L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	989					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AACGTCTTTTCAGGCATCTAC	0.463																																						dbGAP											0													149.0	127.0	135.0					1																	203691759		2203	4300	6503	-	-	-	SO:0001583	missense	0			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2966C>T	1.37:g.203691759C>T	ENSP00000350310:p.Ser989Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_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,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.S989L	ENST00000357681.5	37	c.2966	CCDS1440.1	1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866939	0.51588	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34	5.1	1.71	0.24356	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	1.456750	0.04332	N	0.352529	D	0.83695	0.5310	L	0.41632	1.29	0.21719	N	0.999571	B;B;B	0.23249	0.014;0.082;0.019	B;B;B	0.30495	0.033;0.116;0.023	T	0.70572	-0.4835	10	0.72032	D	0.01	0.228	6.4828	0.22073	0.4084:0.3579:0.2337:0.0	.	989;989;989	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	L	989;989;977;989;989	ENSP00000350310:S989L;ENSP00000356187:S989L;ENSP00000356188:S977L;ENSP00000375816:S989L;ENSP00000340930:S989L	ENSP00000340930:S989L	S	+	2	0	ATP2B4	201958382	0.738000	0.28186	0.025000	0.17156	0.968000	0.65278	3.961000	0.56759	0.499000	0.27970	0.655000	0.94253	TCA	ATP2B4	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000058668		0.463	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	58	0.00	0	C	NM_001001396		203691759	203691759	+1	no_errors	ENST00000357681	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.930	T
ATP6V0C	527	genome.wustl.edu	37	16	2564163	2564163	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:2564163C>T	ENST00000330398.4	+	1	293	c.59C>T	c.(58-60)tCg>tTg	p.S20L	ATP6V0C_ENST00000565223.1_5'Flank|RP11-20I23.1_ENST00000564543.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.S20L|ATP6V0C_ENST00000568562.1_Intron	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	20					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				ATGGGCGCCTCGGCCGCCATG	0.731																																						dbGAP											0													13.0	13.0	13.0					16																	2564163		2187	4284	6471	-	-	-	SO:0001583	missense	0			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.59C>T	16.37:g.2564163C>T	ENSP00000329757:p.Ser20Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH26	Missense_Mutation	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu,tigrfam_ATPase_V0-cplx_csu_euk	p.S20L	ENST00000330398.4	37	c.59	CCDS10470.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314939	0.81358	.	.	ENSG00000185883	ENST00000330398	T	0.42131	0.98	3.66	3.66	0.41972	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	U	0.000000	T	0.35189	0.0923	L	0.41573	1.285	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.34254	-0.9836	10	0.87932	D	0	-13.4529	12.9649	0.58478	0.0:1.0:0.0:0.0	.	20	P27449	VATL_HUMAN	L	20	ENSP00000329757:S20L	ENSP00000329757:S20L	S	+	2	0	ATP6V0C	2504164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.136000	0.71703	1.892000	0.54788	0.543000	0.68304	TCG	ATP6V0C	-	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,tigrfam_ATPase_V0-cplx_csu_euk	ENSG00000185883		0.731	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0C	HGNC	protein_coding	OTTHUMT00000250810.1	65	0.00	0	C	NM_001694		2564163	2564163	+1	no_errors	ENST00000330398	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	T
ATP6V0C	527	genome.wustl.edu	37	16	2564163	2564163	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:2564163C>T	ENST00000330398.4	+	1	293	c.59C>T	c.(58-60)tCg>tTg	p.S20L	ATP6V0C_ENST00000565223.1_5'Flank|RP11-20I23.1_ENST00000564543.1_Intron|ATP6C_ENST00000569317.1_Missense_Mutation_p.S20L|ATP6V0C_ENST00000568562.1_Intron	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	20					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|ubiquitin protein ligase binding (GO:0031625)			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				ATGGGCGCCTCGGCCGCCATG	0.731																																						dbGAP											0													13.0	13.0	13.0					16																	2564163		2187	4284	6471	-	-	-	SO:0001583	missense	0			M62762	CCDS10470.1	16p13.3	2010-04-21	2002-08-29	2002-05-10	ENSG00000185883	ENSG00000185883	3.6.3.14	"""ATPases / V-type"""	855	protein-coding gene	gene with protein product		108745	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 16kD"""	ATPL, ATP6C, ATP6L		1709739, 8250920	Standard	NM_001694		Approved	VATL, Vma3	uc021tav.1	P27449	OTTHUMG00000128865	ENST00000330398.4:c.59C>T	16.37:g.2564163C>T	ENSP00000329757:p.Ser20Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FH26	Missense_Mutation	SNP	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_V0-cplx_csu,tigrfam_ATPase_V0-cplx_csu_euk	p.S20L	ENST00000330398.4	37	c.59	CCDS10470.1	16	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314939	0.81358	.	.	ENSG00000185883	ENST00000330398	T	0.42131	0.98	3.66	3.66	0.41972	ATPase, F0/V0 complex, subunit C (2);	0.000000	0.85682	U	0.000000	T	0.35189	0.0923	L	0.41573	1.285	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.34254	-0.9836	10	0.87932	D	0	-13.4529	12.9649	0.58478	0.0:1.0:0.0:0.0	.	20	P27449	VATL_HUMAN	L	20	ENSP00000329757:S20L	ENSP00000329757:S20L	S	+	2	0	ATP6V0C	2504164	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.136000	0.71703	1.892000	0.54788	0.543000	0.68304	TCG	ATP6V0C	-	pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,tigrfam_ATPase_V0-cplx_csu_euk	ENSG00000185883		0.731	ATP6V0C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V0C	HGNC	protein_coding	OTTHUMT00000250810.1	49	0.00	0	C	NM_001694		2564163	2564163	+1	no_errors	ENST00000330398	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	1.000	T
ATXN7L2	127002	genome.wustl.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													104.0	94.0	97.0					1																	110032907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1251G>T	1.37:g.110032907G>T		Somatic	1424	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SCA7_dom	p.G417	ENST00000369870.3	37	c.1251	CCDS30794.1	1																																																																																			ATXN7L2	-	NULL	ENSG00000162650		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	22	0.00	0	G	NM_153340		110032907	110032907	+1	no_errors	ENST00000369870	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.995	T
ATXN7L2	127002	genome.wustl.edu	37	1	110032907	110032907	+	Silent	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:110032907G>T	ENST00000369870.3	+	9	1266	c.1251G>T	c.(1249-1251)ggG>ggT	p.G417G		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	417										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCACCTTTGGGAGCCGGCTGG	0.597											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													104.0	94.0	97.0					1																	110032907		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1251G>T	1.37:g.110032907G>T		Somatic	1424	WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_SCA7_dom	p.G417	ENST00000369870.3	37	c.1251	CCDS30794.1	1																																																																																			ATXN7L2	-	NULL	ENSG00000162650		0.597	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	24	0.00	0	G	NM_153340		110032907	110032907	+1	no_errors	ENST00000369870	ensembl	human	known	69_37n	silent	18	30.77	8	SNP	0.995	T
AURKA	6790	genome.wustl.edu	37	20	54961366	54961366	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:54961366G>C	ENST00000347343.2	-	3	533	c.266C>G	c.(265-267)tCc>tGc	p.S89C	AURKA_ENST00000395915.3_Missense_Mutation_p.S89C|AURKA_ENST00000371356.2_Missense_Mutation_p.S89C|AURKA_ENST00000395907.1_Missense_Mutation_p.S89C|AURKA_ENST00000395911.1_Missense_Mutation_p.S89C|AURKA_ENST00000395913.3_Missense_Mutation_p.S89C|AURKA_ENST00000395909.4_Missense_Mutation_p.S89C|AURKA_ENST00000312783.6_Missense_Mutation_p.S89C|AURKA_ENST00000395914.1_Missense_Mutation_p.S89C	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CAGTGGCCTGGAGACAGGATG	0.498																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	dbGAP											0													179.0	154.0	162.0					20																	54961366		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.266C>G	20.37:g.54961366G>C	ENSP00000216911:p.Ser89Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	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	p.S89C	ENST00000347343.2	37	c.266	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573711	0.45902	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.56;-0.13;2.57;2.34;2.17	5.34	3.37	0.38596	.	0.481464	0.20779	N	0.085836	T	0.65831	0.2729	M	0.66939	2.045	0.09310	N	1	B;B;B;P;P;P;P	0.43392	0.001;0.003;0.0;0.533;0.693;0.771;0.805	B;B;B;B;B;B;B	0.39185	0.002;0.004;0.0;0.293;0.246;0.22;0.285	T	0.59300	-0.7480	10	0.52906	T	0.07	-1.2883	9.7717	0.40593	0.0698:0.2677:0.6625:0.0	.	89;89;89;89;89;89;89	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	C	89	ENSP00000379245:S89C;ENSP00000379250:S89C;ENSP00000216911:S89C;ENSP00000379251:S89C;ENSP00000321591:S89C;ENSP00000360407:S89C;ENSP00000379249:S89C;ENSP00000379247:S89C;ENSP00000379243:S89C;ENSP00000393452:S89C;ENSP00000388073:S89C;ENSP00000405042:S89C;ENSP00000405170:S89C	ENSP00000321591:S89C	S	-	2	0	AURKA	54394773	0.002000	0.14202	0.019000	0.16419	0.063000	0.16089	1.165000	0.31822	0.727000	0.32360	-0.150000	0.13652	TCC	AURKA	-	NULL	ENSG00000087586		0.498	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	61	0.00	0	G	NM_003600		54961366	54961366	-1	no_errors	ENST00000312783	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	0.001	C
AURKA	6790	genome.wustl.edu	37	20	54961366	54961366	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:54961366G>C	ENST00000347343.2	-	3	533	c.266C>G	c.(265-267)tCc>tGc	p.S89C	AURKA_ENST00000395915.3_Missense_Mutation_p.S89C|AURKA_ENST00000371356.2_Missense_Mutation_p.S89C|AURKA_ENST00000395907.1_Missense_Mutation_p.S89C|AURKA_ENST00000395911.1_Missense_Mutation_p.S89C|AURKA_ENST00000395913.3_Missense_Mutation_p.S89C|AURKA_ENST00000395909.4_Missense_Mutation_p.S89C|AURKA_ENST00000312783.6_Missense_Mutation_p.S89C|AURKA_ENST00000395914.1_Missense_Mutation_p.S89C	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			CAGTGGCCTGGAGACAGGATG	0.498																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)	dbGAP											0													179.0	154.0	162.0					20																	54961366		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.266C>G	20.37:g.54961366G>C	ENSP00000216911:p.Ser89Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	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	p.S89C	ENST00000347343.2	37	c.266	CCDS13451.1	20	.	.	.	.	.	.	.	.	.	.	G	14.57	2.573711	0.45902	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911;ENST00000395907;ENST00000441357;ENST00000420474;ENST00000422322;ENST00000456249	T;T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.56;-0.13;2.57;2.34;2.17	5.34	3.37	0.38596	.	0.481464	0.20779	N	0.085836	T	0.65831	0.2729	M	0.66939	2.045	0.09310	N	1	B;B;B;P;P;P;P	0.43392	0.001;0.003;0.0;0.533;0.693;0.771;0.805	B;B;B;B;B;B;B	0.39185	0.002;0.004;0.0;0.293;0.246;0.22;0.285	T	0.59300	-0.7480	10	0.52906	T	0.07	-1.2883	9.7717	0.40593	0.0698:0.2677:0.6625:0.0	.	89;89;89;89;89;89;89	Q5QPD1;Q5QPD2;A3KFJ1;Q5QPD4;A3KFJ0;B2R6Z3;O14965	.;.;.;.;.;.;AURKA_HUMAN	C	89	ENSP00000379245:S89C;ENSP00000379250:S89C;ENSP00000216911:S89C;ENSP00000379251:S89C;ENSP00000321591:S89C;ENSP00000360407:S89C;ENSP00000379249:S89C;ENSP00000379247:S89C;ENSP00000379243:S89C;ENSP00000393452:S89C;ENSP00000388073:S89C;ENSP00000405042:S89C;ENSP00000405170:S89C	ENSP00000321591:S89C	S	-	2	0	AURKA	54394773	0.002000	0.14202	0.019000	0.16419	0.063000	0.16089	1.165000	0.31822	0.727000	0.32360	-0.150000	0.13652	TCC	AURKA	-	NULL	ENSG00000087586		0.498	AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKA	HGNC	protein_coding	OTTHUMT00000079804.3	61	0.00	0	G	NM_003600		54961366	54961366	-1	no_errors	ENST00000312783	ensembl	human	known	69_37n	missense	49	23.44	15	SNP	0.001	C
BAI2	576	genome.wustl.edu	37	1	32196704	32196704	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:32196704C>T	ENST00000373658.3	-	29	4418	c.4077G>A	c.(4075-4077)ttG>ttA	p.L1359L	BAI2_ENST00000398547.1_Silent_p.L1292L|BAI2_ENST00000373655.2_Silent_p.L1359L|BAI2_ENST00000527361.1_Silent_p.L1326L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.L1326L|BAI2_ENST00000398542.1_Silent_p.L1259L|BAI2_ENST00000440175.2_Silent_p.L968L|BAI2_ENST00000398538.1_Silent_p.L1347L|BAI2_ENST00000398556.3_Silent_p.L1274L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1359					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGCAGGCTCAAAGTCCGCC	0.711																																						dbGAP											0													11.0	11.0	11.0					1																	32196704		2177	4259	6436	-	-	-	SO:0001819	synonymous_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4077G>A	1.37:g.32196704C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L1359	ENST00000373658.3	37	c.4077	CCDS346.2	1																																																																																			BAI2	-	NULL	ENSG00000121753		0.711	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	74	0.00	0	C	NM_001703		32196704	32196704	-1	no_errors	ENST00000373658	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	1.000	T
BAI2	576	genome.wustl.edu	37	1	32196704	32196704	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:32196704C>T	ENST00000373658.3	-	29	4418	c.4077G>A	c.(4075-4077)ttG>ttA	p.L1359L	BAI2_ENST00000398547.1_Silent_p.L1292L|BAI2_ENST00000373655.2_Silent_p.L1359L|BAI2_ENST00000527361.1_Silent_p.L1326L|BAI2_ENST00000465256.1_5'UTR|BAI2_ENST00000257070.4_Silent_p.L1326L|BAI2_ENST00000398542.1_Silent_p.L1259L|BAI2_ENST00000440175.2_Silent_p.L968L|BAI2_ENST00000398538.1_Silent_p.L1347L|BAI2_ENST00000398556.3_Silent_p.L1274L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	1359					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCTGCAGGCTCAAAGTCCGCC	0.711																																						dbGAP											0													11.0	11.0	11.0					1																	32196704		2177	4259	6436	-	-	-	SO:0001819	synonymous_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.4077G>A	1.37:g.32196704C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.L1359	ENST00000373658.3	37	c.4077	CCDS346.2	1																																																																																			BAI2	-	NULL	ENSG00000121753		0.711	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	40	0.00	0	C	NM_001703		32196704	32196704	-1	no_errors	ENST00000373658	ensembl	human	known	69_37n	silent	35	18.60	8	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160239072	160239072	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:160239072C>T	ENST00000392783.2	-	25	4498	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1299K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1301K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1235K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1335	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCATTACCTCATCTTCACAG	0.333																																						dbGAP											0													87.0	81.0	83.0					2																	160239072		1857	3812	5669	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4003G>A	2.37:g.160239072C>T	ENSP00000376534:p.Glu1335Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1335K	ENST00000392783.2	37	c.4003	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887833	0.91814	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.27720	1.65;1.65;1.65;4.3	5.73	5.73	0.89815	.	0.417180	0.17372	U	0.176637	T	0.59059	0.2166	M	0.74881	2.28	0.80722	D	1	D;D	0.67145	0.996;0.981	D;P	0.76071	0.987;0.76	T	0.54516	-0.8282	10	0.42905	T	0.14	-14.8103	19.8807	0.96899	0.0:1.0:0.0:0.0	.	1299;1335	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1299;1335;1301;1235	ENSP00000376533:E1299K;ENSP00000376534:E1335K;ENSP00000348087:E1301K;ENSP00000339670:E1235K	ENSP00000339670:E1235K	E	-	1	0	BAZ2B	159947318	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.743000	0.62110	2.692000	0.91855	0.591000	0.81541	GAG	BAZ2B	-	superfamily_ARM-type_fold	ENSG00000123636		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	87	0.00	0	C			160239072	160239072	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160239072	160239072	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:160239072C>T	ENST00000392783.2	-	25	4498	c.4003G>A	c.(4003-4005)Gag>Aag	p.E1335K	BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1299K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1301K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1235K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1335	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTCATTACCTCATCTTCACAG	0.333																																						dbGAP											0													87.0	81.0	83.0					2																	160239072		1857	3812	5669	-	-	-	SO:0001583	missense	0			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.4003G>A	2.37:g.160239072C>T	ENSP00000376534:p.Glu1335Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E1335K	ENST00000392783.2	37	c.4003	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887833	0.91814	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;T	0.27720	1.65;1.65;1.65;4.3	5.73	5.73	0.89815	.	0.417180	0.17372	U	0.176637	T	0.59059	0.2166	M	0.74881	2.28	0.80722	D	1	D;D	0.67145	0.996;0.981	D;P	0.76071	0.987;0.76	T	0.54516	-0.8282	10	0.42905	T	0.14	-14.8103	19.8807	0.96899	0.0:1.0:0.0:0.0	.	1299;1335	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	K	1299;1335;1301;1235	ENSP00000376533:E1299K;ENSP00000376534:E1335K;ENSP00000348087:E1301K;ENSP00000339670:E1235K	ENSP00000339670:E1235K	E	-	1	0	BAZ2B	159947318	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.743000	0.62110	2.692000	0.91855	0.591000	0.81541	GAG	BAZ2B	-	superfamily_ARM-type_fold	ENSG00000123636		0.333	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	90	0.00	0	C			160239072	160239072	-1	no_errors	ENST00000392783	ensembl	human	known	69_37n	missense	46	26.98	17	SNP	1.000	T
BCAS2	10286	genome.wustl.edu	37	1	115124173	115124173	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:115124173C>T	ENST00000369541.3	-	1	87	c.40G>A	c.(40-42)Gat>Aat	p.D14N	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		GGCAGCGCATCCACCACAACC	0.537																																						dbGAP											0													70.0	63.0	65.0					1																	115124173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.40G>A	1.37:g.115124173C>T	ENSP00000358554:p.Asp14Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.D14N	ENST00000369541.3	37	c.40	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.965346	0.97151	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85594	0.1248	9	0.54805	T	0.06	-0.772	19.573	0.95428	0.0:1.0:0.0:0.0	.	14	O75934	SPF27_HUMAN	N	14	.	ENSP00000358554:D14N	D	-	1	0	BCAS2	114925696	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.957000	0.76019	2.613000	0.88420	0.551000	0.68910	GAT	BCAS2	-	pfam_BCAS2	ENSG00000116752		0.537	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	31	0.00	0	C	NM_005872		115124173	115124173	-1	no_errors	ENST00000369541	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	1.000	T
BCAS2	10286	genome.wustl.edu	37	1	115124173	115124173	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:115124173C>T	ENST00000369541.3	-	1	87	c.40G>A	c.(40-42)Gat>Aat	p.D14N	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	14					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cell junction (GO:0030054)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)				biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-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)		GGCAGCGCATCCACCACAACC	0.537																																						dbGAP											0													70.0	63.0	65.0					1																	115124173		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020623	CCDS874.1	1p13.2	2010-01-25			ENSG00000116752	ENSG00000116752			975	protein-coding gene	gene with protein product		605783				9731529, 10403562	Standard	NM_005872		Approved	DAM1, SPF27, Snt309	uc001efa.3	O75934	OTTHUMG00000011898	ENST00000369541.3:c.40G>A	1.37:g.115124173C>T	ENSP00000358554:p.Asp14Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGS0	Missense_Mutation	SNP	pfam_BCAS2	p.D14N	ENST00000369541.3	37	c.40	CCDS874.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.965346	0.97151	.	.	ENSG00000116752	ENST00000369541	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85594	0.1248	9	0.54805	T	0.06	-0.772	19.573	0.95428	0.0:1.0:0.0:0.0	.	14	O75934	SPF27_HUMAN	N	14	.	ENSP00000358554:D14N	D	-	1	0	BCAS2	114925696	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.957000	0.76019	2.613000	0.88420	0.551000	0.68910	GAT	BCAS2	-	pfam_BCAS2	ENSG00000116752		0.537	BCAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS2	HGNC	protein_coding	OTTHUMT00000032871.1	37	0.00	0	C	NM_005872		115124173	115124173	-1	no_errors	ENST00000369541	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	1.000	T
BCAT2	587	genome.wustl.edu	37	19	49300234	49300234	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:49300234C>G	ENST00000316273.6	-	8	896	c.884G>C	c.(883-885)gGa>gCa	p.G295A	BCAT2_ENST00000599246.1_Missense_Mutation_p.G203A|BCAT2_ENST00000598162.1_Missense_Mutation_p.G295A|BCAT2_ENST00000545387.2_Missense_Mutation_p.G203A|BCAT2_ENST00000402551.1_Missense_Mutation_p.G255A|BCAT2_ENST00000597011.1_Missense_Mutation_p.G255A	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	295					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	TCTGACCACTCCAGGCAGGAT	0.607																																						dbGAP											0													97.0	76.0	83.0					19																	49300234		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.884G>C	19.37:g.49300234C>G	ENSP00000322991:p.Gly295Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.G295A	ENST00000316273.6	37	c.884	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739113	0.89573	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.72282	-0.64;-0.64;-0.64	4.72	4.72	0.59763	Aminotransferase, class IV, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	H	0.98333	4.205	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.75484	0.986;0.986;0.984;0.986	D	0.93548	0.6884	10	0.87932	D	0	-2.2667	15.5846	0.76473	0.0:1.0:0.0:0.0	.	255;295;203;295	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	A	295;203;255	ENSP00000322991:G295A;ENSP00000440973:G203A;ENSP00000385161:G255A	ENSP00000322991:G295A	G	-	2	0	BCAT2	53992046	1.000000	0.71417	0.981000	0.43875	0.985000	0.73830	6.544000	0.73878	2.618000	0.88619	0.561000	0.74099	GGA	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000105552		0.607	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	54	0.00	0	C			49300234	49300234	-1	no_errors	ENST00000316273	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	G
BCAT2	587	genome.wustl.edu	37	19	49300250	49300250	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:49300250C>T	ENST00000316273.6	-	8	880	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	BCAT2_ENST00000599246.1_Missense_Mutation_p.G198S|BCAT2_ENST00000598162.1_Missense_Mutation_p.G290S|BCAT2_ENST00000545387.2_Missense_Mutation_p.G198S|BCAT2_ENST00000402551.1_Missense_Mutation_p.G250S|BCAT2_ENST00000597011.1_Missense_Mutation_p.G250S	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	290					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	AGGATAACACCATTCAGCGGG	0.602																																						dbGAP											0													92.0	72.0	79.0					19																	49300250		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.868G>A	19.37:g.49300250C>T	ENSP00000322991:p.Gly290Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.G290S	ENST00000316273.6	37	c.868	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432391	0.62844	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.19250	2.16;2.16;2.16	4.72	3.69	0.42338	Aminotransferase, class IV, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.73708	0.981;0.981;0.968;0.981	T	0.55554	-0.8123	10	0.87932	D	0	-0.0909	10.83	0.46654	0.0:0.9078:0.0:0.0922	.	250;290;198;290	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	S	290;198;250	ENSP00000322991:G290S;ENSP00000440973:G198S;ENSP00000385161:G250S	ENSP00000322991:G290S	G	-	1	0	BCAT2	53992062	1.000000	0.71417	0.074000	0.20217	0.212000	0.24457	6.544000	0.73878	1.352000	0.45808	0.561000	0.74099	GGT	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000105552		0.602	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	59	0.00	0	C			49300250	49300250	-1	no_errors	ENST00000316273	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.979	T
BCAT2	587	genome.wustl.edu	37	19	49300250	49300250	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:49300250C>T	ENST00000316273.6	-	8	880	c.868G>A	c.(868-870)Ggt>Agt	p.G290S	BCAT2_ENST00000599246.1_Missense_Mutation_p.G198S|BCAT2_ENST00000598162.1_Missense_Mutation_p.G290S|BCAT2_ENST00000545387.2_Missense_Mutation_p.G198S|BCAT2_ENST00000402551.1_Missense_Mutation_p.G250S|BCAT2_ENST00000597011.1_Missense_Mutation_p.G250S	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	290					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	AGGATAACACCATTCAGCGGG	0.602																																						dbGAP											0													92.0	72.0	79.0					19																	49300250		2203	4300	6503	-	-	-	SO:0001583	missense	0			U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.868G>A	19.37:g.49300250C>T	ENSP00000322991:p.Gly290Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	p.G290S	ENST00000316273.6	37	c.868	CCDS12735.1	19	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432391	0.62844	.	.	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.19250	2.16;2.16;2.16	4.72	3.69	0.42338	Aminotransferase, class IV, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.48314	0.1493	M	0.86805	2.84	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.999	D;D;D;D	0.73708	0.981;0.981;0.968;0.981	T	0.55554	-0.8123	10	0.87932	D	0	-0.0909	10.83	0.46654	0.0:0.9078:0.0:0.0922	.	250;290;198;290	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	S	290;198;250	ENSP00000322991:G290S;ENSP00000440973:G198S;ENSP00000385161:G250S	ENSP00000322991:G290S	G	-	1	0	BCAT2	53992062	1.000000	0.71417	0.074000	0.20217	0.212000	0.24457	6.544000	0.73878	1.352000	0.45808	0.561000	0.74099	GGT	BCAT2	-	pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII	ENSG00000105552		0.602	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAT2	HGNC	protein_coding	OTTHUMT00000466202.1	59	0.00	0	C			49300250	49300250	-1	no_errors	ENST00000316273	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.979	T
BCL2L13	23786	genome.wustl.edu	37	22	18166042	18166042	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:18166042G>A	ENST00000317582.5	+	3	531	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	BCL2L13_ENST00000399782.1_Missense_Mutation_p.E62K|BCL2L13_ENST00000355028.3_Missense_Mutation_p.E62K|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.E62K|BCL2L13_ENST00000418951.2_Missense_Mutation_p.E62K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	62					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AGTTAAAACTGAAATTGAAGA	0.299																																						dbGAP											0													36.0	38.0	38.0					22																	18166042		2195	4288	6483	-	-	-	SO:0001583	missense	0			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.184G>A	22.37:g.18166042G>A	ENSP00000318883:p.Glu62Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.E62K	ENST00000317582.5	37	c.184	CCDS13746.1	22	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703112	0.68501	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.56	5.56	0.83823	.	0.111329	0.64402	D	0.000011	T	0.11196	0.0273	L	0.29908	0.895	0.80722	D	1	D;P;P	0.61697	0.99;0.935;0.911	P;B;B	0.57371	0.819;0.411;0.355	T	0.02294	-1.1181	10	0.59425	D	0.04	-15.5124	17.7791	0.88518	0.0:0.0:1.0:0.0	.	62;62;62	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	K	62	ENSP00000382682:E62K;ENSP00000318883:E62K;ENSP00000434764:E62K;ENSP00000347133:E62K;ENSP00000410019:E62K	ENSP00000318883:E62K	E	+	1	0	BCL2L13	16546042	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.626000	0.61269	2.622000	0.88805	0.644000	0.83932	GAA	BCL2L13	-	NULL	ENSG00000099968		0.299	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	61	0.00	0	G	NM_015367		18166042	18166042	+1	no_errors	ENST00000317582	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	A
BCL2L13	23786	genome.wustl.edu	37	22	18166042	18166042	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:18166042G>A	ENST00000317582.5	+	3	531	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	BCL2L13_ENST00000399782.1_Missense_Mutation_p.E62K|BCL2L13_ENST00000355028.3_Missense_Mutation_p.E62K|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Intron|BCL2L13_ENST00000493680.1_Missense_Mutation_p.E62K|BCL2L13_ENST00000418951.2_Missense_Mutation_p.E62K	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	62					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		AGTTAAAACTGAAATTGAAGA	0.299																																						dbGAP											0													36.0	38.0	38.0					22																	18166042		2195	4288	6483	-	-	-	SO:0001583	missense	0			AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.184G>A	22.37:g.18166042G>A	ENSP00000318883:p.Glu62Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis	p.E62K	ENST00000317582.5	37	c.184	CCDS13746.1	22	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703112	0.68501	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000493680;ENST00000355028;ENST00000418951	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.56	5.56	0.83823	.	0.111329	0.64402	D	0.000011	T	0.11196	0.0273	L	0.29908	0.895	0.80722	D	1	D;P;P	0.61697	0.99;0.935;0.911	P;B;B	0.57371	0.819;0.411;0.355	T	0.02294	-1.1181	10	0.59425	D	0.04	-15.5124	17.7791	0.88518	0.0:0.0:1.0:0.0	.	62;62;62	E9PDD6;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	K	62	ENSP00000382682:E62K;ENSP00000318883:E62K;ENSP00000434764:E62K;ENSP00000347133:E62K;ENSP00000410019:E62K	ENSP00000318883:E62K	E	+	1	0	BCL2L13	16546042	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.626000	0.61269	2.622000	0.88805	0.644000	0.83932	GAA	BCL2L13	-	NULL	ENSG00000099968		0.299	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L13	HGNC	protein_coding	OTTHUMT00000316184.1	47	0.00	0	G	NM_015367		18166042	18166042	+1	no_errors	ENST00000317582	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	A
BIRC8	112401	genome.wustl.edu	37	19	53793412	53793412	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:53793412C>T	ENST00000426466.1	-	1	1463	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	72					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CATGTCCCTTCTCTTCTAGCA	0.428																																						dbGAP											0													149.0	143.0	145.0					19																	53793412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.216G>A	19.37:g.53793412C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPY1|Q96RW5	Silent	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E72	ENST00000426466.1	37	c.216	CCDS12863.1	19																																																																																			BIRC8	-	NULL	ENSG00000163098		0.428	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	52	0.00	0	C	NM_033341		53793412	53793412	-1	no_errors	ENST00000426466	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.951	T
BIRC8	112401	genome.wustl.edu	37	19	53793412	53793412	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:53793412C>T	ENST00000426466.1	-	1	1463	c.216G>A	c.(214-216)gaG>gaA	p.E72E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	72					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CATGTCCCTTCTCTTCTAGCA	0.428																																						dbGAP											0													149.0	143.0	145.0					19																	53793412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.216G>A	19.37:g.53793412C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPY1|Q96RW5	Silent	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.E72	ENST00000426466.1	37	c.216	CCDS12863.1	19																																																																																			BIRC8	-	NULL	ENSG00000163098		0.428	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	54	0.00	0	C	NM_033341		53793412	53793412	-1	no_errors	ENST00000426466	ensembl	human	known	69_37n	silent	31	26.19	11	SNP	0.951	T
BLCAP	10904	genome.wustl.edu	37	20	36147634	36147634	+	5'UTR	SNP	C	C	G	rs6090826		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:36147634C>G	ENST00000373537.2	-	0	257				NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000397137.1_5'UTR|BLCAP_ENST00000397134.1_5'UTR|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397131.1_5'UTR|BLCAP_ENST00000397135.1_5'UTR	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein						apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				AGGAACCGACCTAATGGGAGC	0.662																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.-58G>C	20.37:g.36147634C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2K7|O60629|Q9D3B5	RNA	SNP	-	NULL	ENST00000373537.2	37	NULL	CCDS13295.1	20																																																																																			BLCAP	-	-	ENSG00000166619		0.662	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLCAP	HGNC	protein_coding	OTTHUMT00000079113.2	22	0.00	0	C	NM_006698		36147634	36147634	-1	no_errors	ENST00000467603	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	1.000	G
BLCAP	10904	genome.wustl.edu	37	20	36147634	36147634	+	5'UTR	SNP	C	C	G	rs6090826		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:36147634C>G	ENST00000373537.2	-	0	257				NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000414542.2_5'UTR|BLCAP_ENST00000397137.1_5'UTR|BLCAP_ENST00000397134.1_5'UTR|NNAT_ENST00000346199.2_5'Flank|BLCAP_ENST00000397131.1_5'UTR|BLCAP_ENST00000397135.1_5'UTR	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein						apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				AGGAACCGACCTAATGGGAGC	0.662																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.-58G>C	20.37:g.36147634C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2K7|O60629|Q9D3B5	RNA	SNP	-	NULL	ENST00000373537.2	37	NULL	CCDS13295.1	20																																																																																			BLCAP	-	-	ENSG00000166619		0.662	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BLCAP	HGNC	protein_coding	OTTHUMT00000079113.2	16	0.00	0	C	NM_006698		36147634	36147634	-1	no_errors	ENST00000467603	ensembl	human	known	69_37n	rna	13	23.53	4	SNP	1.000	G
BRWD3	254065	genome.wustl.edu	37	X	80064047	80064047	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:80064047G>A	ENST00000373275.4	-	4	387	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	57					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAGATCCTCGAAGCTTCTTC	0.552																																						dbGAP											0													54.0	52.0	53.0					X																	80064047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.171C>T	X.37:g.80064047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.F57	ENST00000373275.4	37	c.171	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.552	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	43	0.00	0	G	NM_153252		80064047	80064047	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	1.000	A
BRWD3	254065	genome.wustl.edu	37	X	80064047	80064047	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:80064047G>A	ENST00000373275.4	-	4	387	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	57					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAGATCCTCGAAGCTTCTTC	0.552																																						dbGAP											0													54.0	52.0	53.0					X																	80064047		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.171C>T	X.37:g.80064047G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Silent	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.F57	ENST00000373275.4	37	c.171	CCDS14447.1	X																																																																																			BRWD3	-	NULL	ENSG00000165288		0.552	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	48	0.00	0	G	NM_153252		80064047	80064047	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	1.000	A
BSG	682	genome.wustl.edu	37	19	580451	580451	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:580451C>T	ENST00000333511.3	+	4	715	c.645C>T	c.(643-645)atC>atT	p.I215I	BSG_ENST00000346916.4_Silent_p.I35I|BSG_ENST00000353555.4_Silent_p.I99I|BSG_ENST00000545507.2_Silent_p.I6I	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	215	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCAACATCCAGCTCCACG	0.672																																						dbGAP											0													62.0	51.0	55.0					19																	580451		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.645C>T	19.37:g.580451C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I215	ENST00000333511.3	37	c.645	CCDS12033.1	19																																																																																			BSG	-	NULL	ENSG00000172270		0.672	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	67	0.00	0	C	NM_001728		580451	580451	+1	no_errors	ENST00000333511	ensembl	human	known	69_37n	silent	32	27.27	12	SNP	0.008	T
BSG	682	genome.wustl.edu	37	19	580451	580451	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:580451C>T	ENST00000333511.3	+	4	715	c.645C>T	c.(643-645)atC>atT	p.I215I	BSG_ENST00000346916.4_Silent_p.I35I|BSG_ENST00000353555.4_Silent_p.I99I|BSG_ENST00000545507.2_Silent_p.I6I	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin (Ok blood group)	215	Ig-like C2-type.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cellular metabolic process (GO:0044237)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis of dentin-containing tooth (GO:0042475)|protein targeting to plasma membrane (GO:0072661)|pyruvate metabolic process (GO:0006090)|response to cAMP (GO:0051591)|response to mercury ion (GO:0046689)|response to peptide hormone (GO:0043434)|small molecule metabolic process (GO:0044281)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCCAACATCCAGCTCCACG	0.672																																						dbGAP											0													62.0	51.0	55.0					19																	580451		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			L10240	CCDS12032.1, CCDS12033.1, CCDS12034.1, CCDS58635.1	19p13.3	2014-07-19	2014-01-02		ENSG00000172270	ENSG00000172270		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1116	protein-coding gene	gene with protein product	"""Ok blood group"""	109480	"""basigin"""	OK		8404035, 7812975	Standard	NM_198591		Approved	EMMPRIN, CD147	uc002loz.4	P35613		ENST00000333511.3:c.645C>T	19.37:g.580451C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJW1|D3YLG5|Q7Z796|Q8IZL7	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I215	ENST00000333511.3	37	c.645	CCDS12033.1	19																																																																																			BSG	-	NULL	ENSG00000172270		0.672	BSG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSG	HGNC	protein_coding	OTTHUMT00000438630.2	36	0.00	0	C	NM_001728		580451	580451	+1	no_errors	ENST00000333511	ensembl	human	known	69_37n	silent	32	27.27	12	SNP	0.008	T
BZRAP1	9256	genome.wustl.edu	37	17	56386480	56386480	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:56386480C>G	ENST00000343736.4	-	22	4316	c.4153G>C	c.(4153-4155)Gag>Cag	p.E1385Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1325Q|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1385Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1385						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGAGGACTCAGGAGACAAG	0.642																																						dbGAP											0													82.0	90.0	87.0					17																	56386480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4153G>C	17.37:g.56386480C>G	ENSP00000345824:p.Glu1385Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1385Q	ENST00000343736.4	37	c.4153	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000823	0.35320	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04317	3.65;3.65;3.66	5.31	4.33	0.51752	.	0.821615	0.11754	N	0.532760	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B;D;D	0.71674	0.028;0.998;0.997	B;D;D	0.80764	0.016;0.994;0.986	T	0.37865	-0.9687	10	0.19590	T	0.45	.	9.8053	0.40789	0.0:0.9039:0.0:0.0961	.	1385;1325;1385	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	1385;1385;1325	ENSP00000347929:E1385Q;ENSP00000345824:E1385Q;ENSP00000268893:E1325Q	ENSP00000268893:E1325Q	E	-	1	0	BZRAP1	53741479	0.372000	0.25064	0.780000	0.31762	0.976000	0.68499	1.324000	0.33712	1.229000	0.43630	0.563000	0.77884	GAG	BZRAP1	-	NULL	ENSG00000005379		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	74	0.00	0	C	NM_004758		56386480	56386480	-1	no_errors	ENST00000355701	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.107	G
BZRAP1	9256	genome.wustl.edu	37	17	56386480	56386480	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:56386480C>G	ENST00000343736.4	-	22	4316	c.4153G>C	c.(4153-4155)Gag>Cag	p.E1385Q	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1325Q|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1385Q			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1385						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGAGGACTCAGGAGACAAG	0.642																																						dbGAP											0													82.0	90.0	87.0					17																	56386480		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4153G>C	17.37:g.56386480C>G	ENSP00000345824:p.Glu1385Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1385Q	ENST00000343736.4	37	c.4153	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000823	0.35320	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04317	3.65;3.65;3.66	5.31	4.33	0.51752	.	0.821615	0.11754	N	0.532760	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B;D;D	0.71674	0.028;0.998;0.997	B;D;D	0.80764	0.016;0.994;0.986	T	0.37865	-0.9687	10	0.19590	T	0.45	.	9.8053	0.40789	0.0:0.9039:0.0:0.0961	.	1385;1325;1385	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	Q	1385;1385;1325	ENSP00000347929:E1385Q;ENSP00000345824:E1385Q;ENSP00000268893:E1325Q	ENSP00000268893:E1325Q	E	-	1	0	BZRAP1	53741479	0.372000	0.25064	0.780000	0.31762	0.976000	0.68499	1.324000	0.33712	1.229000	0.43630	0.563000	0.77884	GAG	BZRAP1	-	NULL	ENSG00000005379		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	42	0.00	0	C	NM_004758		56386480	56386480	-1	no_errors	ENST00000355701	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	0.107	G
C11orf84	144097	genome.wustl.edu	37	11	63585739	63585739	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:63585739G>A	ENST00000294244.4	+	3	808	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	170	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GACGCTGCCAGAATGCCAGCC	0.612																																						dbGAP											0													83.0	89.0	87.0					11																	63585739		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.509G>A	11.37:g.63585739G>A	ENSP00000294244:p.Arg170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.R170K	ENST00000294244.4	37	c.509	CCDS31594.1	11	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745725	0.03065	.	.	ENSG00000168005	ENST00000294244	T	0.40756	1.02	5.54	-2.25	0.06888	.	0.884019	0.09923	N	0.738185	T	0.21103	0.0508	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25710	-1.0124	10	0.87932	D	0	-0.4671	9.864	0.41131	0.72:0.0:0.28:0.0	.	170	Q9BUA3	CK084_HUMAN	K	170	ENSP00000294244:R170K	ENSP00000294244:R170K	R	+	2	0	C11orf84	63342315	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	-0.066000	0.11598	-0.249000	0.09569	0.561000	0.74099	AGA	C11orf84	-	NULL	ENSG00000168005		0.612	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	92	0.00	0	G	NM_138471		63585739	63585739	+1	no_errors	ENST00000294244	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.000	A
C11orf84	144097	genome.wustl.edu	37	11	63585739	63585739	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:63585739G>A	ENST00000294244.4	+	3	808	c.509G>A	c.(508-510)aGa>aAa	p.R170K		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	170	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GACGCTGCCAGAATGCCAGCC	0.612																																						dbGAP											0													83.0	89.0	87.0					11																	63585739		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.509G>A	11.37:g.63585739G>A	ENSP00000294244:p.Arg170Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CV7|Q6PHS2|Q96IH0	Missense_Mutation	SNP	NULL	p.R170K	ENST00000294244.4	37	c.509	CCDS31594.1	11	.	.	.	.	.	.	.	.	.	.	G	0.830	-0.745725	0.03065	.	.	ENSG00000168005	ENST00000294244	T	0.40756	1.02	5.54	-2.25	0.06888	.	0.884019	0.09923	N	0.738185	T	0.21103	0.0508	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25710	-1.0124	10	0.87932	D	0	-0.4671	9.864	0.41131	0.72:0.0:0.28:0.0	.	170	Q9BUA3	CK084_HUMAN	K	170	ENSP00000294244:R170K	ENSP00000294244:R170K	R	+	2	0	C11orf84	63342315	0.001000	0.12720	0.000000	0.03702	0.037000	0.13140	-0.066000	0.11598	-0.249000	0.09569	0.561000	0.74099	AGA	C11orf84	-	NULL	ENSG00000168005		0.612	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	73	0.00	0	G	NM_138471		63585739	63585739	+1	no_errors	ENST00000294244	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	0.000	A
C14orf93	60686	genome.wustl.edu	37	14	23456510	23456510	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:23456510C>T	ENST00000299088.6	-	7	1960	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.G471S|C14orf93_ENST00000397382.4_Missense_Mutation_p.G511S|RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.G471S|C14orf93_ENST00000397377.1_Missense_Mutation_p.G331S|C14orf93_ENST00000397379.3_Missense_Mutation_p.G511S	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	511						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GATGGGGAGCCAGGTGCATTC	0.463											OREG0022593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													112.0	98.0	102.0					14																	23456510		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1531G>A	14.37:g.23456510C>T	ENSP00000299088:p.Gly511Ser	Somatic	763	WXS	Illumina GAIIx	Phase_IV	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	NULL	p.G511S	ENST00000299088.6	37	c.1531	CCDS9583.1	14	.	.	.	.	.	.	.	.	.	.	c	11.07	1.530018	0.27387	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.66	3.84	0.44239	.	0.299059	0.23939	N	0.043063	T	0.18635	0.0447	N	0.08118	0	0.22199	N	0.99929	B;B	0.11235	0.004;0.004	B;B	0.14023	0.01;0.008	T	0.20405	-1.0276	10	0.11182	T	0.66	-16.5858	6.7617	0.23544	0.0:0.743:0.0:0.257	.	511;471	Q9H972;Q9H972-2	CN093_HUMAN;.	S	511;471;511;511;331;471	ENSP00000299088:G511S;ENSP00000341353:G471S;ENSP00000380535:G511S;ENSP00000380538:G511S;ENSP00000380533:G331S;ENSP00000384768:G471S	ENSP00000299088:G511S	G	-	1	0	C14orf93	22526350	0.009000	0.17119	0.981000	0.43875	0.770000	0.43624	0.099000	0.15210	1.396000	0.46663	0.556000	0.70494	GGC	C14orf93	-	NULL	ENSG00000100802		0.463	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf93	HGNC	protein_coding	OTTHUMT00000071688.5	142	0.00	0	C	NM_021944		23456510	23456510	-1	no_errors	ENST00000299088	ensembl	human	known	69_37n	missense	62	18.42	14	SNP	0.997	T
C14orf39	317761	genome.wustl.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:60938273G>A	ENST00000321731.3	-	6	667	c.508C>T	c.(508-510)Cga>Tga	p.R170*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	170					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249																																						dbGAP											0													36.0	38.0	37.0					14																	60938273		2201	4276	6477	-	-	-	SO:0001587	stop_gained	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.508C>T	14.37:g.60938273G>A	ENSP00000324920:p.Arg170*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Nonsense_Mutation	SNP	NULL	p.R170*	ENST00000321731.3	37	c.508	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	-0.057	0.13803	.	0.269718	0.26086	N	0.026436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7089	0.12863	0.4444:0.0:0.4097:0.1459	.	.	.	.	X	170	.	ENSP00000324920:R170X	R	-	1	2	C14orf39	60008026	0.931000	0.31567	0.999000	0.59377	0.802000	0.45316	-0.136000	0.10405	0.232000	0.21100	0.655000	0.94253	CGA	C14orf39	-	NULL	ENSG00000179008		0.249	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	37	0.00	0	G	NM_174978		60938273	60938273	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	nonsense	36	25.00	12	SNP	0.993	A
C14orf39	317761	genome.wustl.edu	37	14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:60938273G>A	ENST00000321731.3	-	6	667	c.508C>T	c.(508-510)Cga>Tga	p.R170*		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	170					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249																																						dbGAP											0													36.0	38.0	37.0					14																	60938273		2201	4276	6477	-	-	-	SO:0001587	stop_gained	0			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.508C>T	14.37:g.60938273G>A	ENSP00000324920:p.Arg170*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AQ4	Nonsense_Mutation	SNP	NULL	p.R170*	ENST00000321731.3	37	c.508	CCDS9746.1	14	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811165	0.70797	.	.	ENSG00000179008	ENST00000321731	.	.	.	5.37	-0.057	0.13803	.	0.269718	0.26086	N	0.026436	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	4.7089	0.12863	0.4444:0.0:0.4097:0.1459	.	.	.	.	X	170	.	ENSP00000324920:R170X	R	-	1	2	C14orf39	60008026	0.931000	0.31567	0.999000	0.59377	0.802000	0.45316	-0.136000	0.10405	0.232000	0.21100	0.655000	0.94253	CGA	C14orf39	-	NULL	ENSG00000179008		0.249	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf39	HGNC	protein_coding	OTTHUMT00000276948.1	43	0.00	0	G	NM_174978		60938273	60938273	-1	no_errors	ENST00000321731	ensembl	human	known	69_37n	nonsense	36	25.00	12	SNP	0.993	A
CFAP74	85452	genome.wustl.edu	37	1	1916855	1916855	+	IGR	SNP	G	G	A	rs568569740		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:1916855G>A	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCAGTCCTCGACTGCAGGTC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18816	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													72.0	78.0	76.0					1																	1916855		2091	4208	6299	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1916855G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S157L	ENST00000434971.2	37	c.470		1	.	.	.	.	.	.	.	.	.	.	G	7.265	0.605904	0.14002	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.73	-2.25	0.06888	.	1.044260	0.07567	N	0.917980	T	0.25082	0.0609	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.08055	0.001;0.003	T	0.22312	-1.0220	9	0.27082	T	0.32	-2.1666	5.4508	0.16565	0.2151:0.4418:0.3431:0.0	.	157;157	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	L	157	.	ENSP00000270720:S157L	S	-	2	0	C1orf222	1906715	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.232000	0.09055	-0.296000	0.08947	-0.657000	0.03884	TCG	C1orf222	-	NULL	ENSG00000142609		0.672	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		38	0.00	0	G			1916855	1916855	-1	no_errors	ENST00000270720	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.003	A
CFAP74	85452	genome.wustl.edu	37	1	1916855	1916855	+	IGR	SNP	G	G	A	rs568569740		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:1916855G>A	ENST00000434971.2	-	0	339							Q69YW0	CA222_HUMAN												breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCAGTCCTCGACTGCAGGTC	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18816	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													72.0	78.0	76.0					1																	1916855		2091	4208	6299	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.1916855G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S157L	ENST00000434971.2	37	c.470		1	.	.	.	.	.	.	.	.	.	.	G	7.265	0.605904	0.14002	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.73	-2.25	0.06888	.	1.044260	0.07567	N	0.917980	T	0.25082	0.0609	L	0.27053	0.805	0.09310	N	1	B;B	0.13145	0.007;0.004	B;B	0.08055	0.001;0.003	T	0.22312	-1.0220	9	0.27082	T	0.32	-2.1666	5.4508	0.16565	0.2151:0.4418:0.3431:0.0	.	157;157	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	L	157	.	ENSP00000270720:S157L	S	-	2	0	C1orf222	1906715	0.000000	0.05858	0.001000	0.08648	0.033000	0.12548	-0.232000	0.09055	-0.296000	0.08947	-0.657000	0.03884	TCG	C1orf222	-	NULL	ENSG00000142609		0.672	C1orf222-201	KNOWN	basic	protein_coding	C1orf222	HGNC	protein_coding		34	0.00	0	G			1916855	1916855	-1	no_errors	ENST00000270720	ensembl	human	known	69_37n	missense	11	31.25	5	SNP	0.003	A
C1orf94	84970	genome.wustl.edu	37	1	34667763	34667763	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:34667763C>T	ENST00000488417.1	+	4	1469	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	C1orf94_ENST00000373374.3_Missense_Mutation_p.A260V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	450										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TTTCCTACAGCCATGACCTCA	0.507																																						dbGAP											0													209.0	170.0	184.0					1																	34667763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1349C>T	1.37:g.34667763C>T	ENSP00000435634:p.Ala450Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.A450V	ENST00000488417.1	37	c.1349	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331692	0.60853	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.32988	1.43;1.43	5.71	5.71	0.89125	.	0.625133	0.15820	N	0.243021	T	0.33789	0.0875	L	0.57536	1.79	0.26736	N	0.970487	P	0.36909	0.573	B	0.35413	0.202	T	0.33854	-0.9852	10	0.59425	D	0.04	-10.2611	15.3446	0.74327	0.0:1.0:0.0:0.0	.	450	Q6P1W5	CA094_HUMAN	V	260;450	ENSP00000362472:A260V;ENSP00000435634:A450V	ENSP00000362472:A260V	A	+	2	0	C1orf94	34440350	0.005000	0.15991	0.675000	0.29917	0.928000	0.56348	1.329000	0.33770	2.695000	0.91970	0.462000	0.41574	GCC	C1orf94	-	NULL	ENSG00000142698		0.507	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	51	0.00	0	C	NM_032884		34667763	34667763	+1	no_errors	ENST00000488417	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.732	T
C1orf94	84970	genome.wustl.edu	37	1	34667763	34667763	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:34667763C>T	ENST00000488417.1	+	4	1469	c.1349C>T	c.(1348-1350)gCc>gTc	p.A450V	C1orf94_ENST00000373374.3_Missense_Mutation_p.A260V	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	450										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TTTCCTACAGCCATGACCTCA	0.507																																						dbGAP											0													209.0	170.0	184.0					1																	34667763		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1349C>T	1.37:g.34667763C>T	ENSP00000435634:p.Ala450Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.A450V	ENST00000488417.1	37	c.1349	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.331692	0.60853	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.32988	1.43;1.43	5.71	5.71	0.89125	.	0.625133	0.15820	N	0.243021	T	0.33789	0.0875	L	0.57536	1.79	0.26736	N	0.970487	P	0.36909	0.573	B	0.35413	0.202	T	0.33854	-0.9852	10	0.59425	D	0.04	-10.2611	15.3446	0.74327	0.0:1.0:0.0:0.0	.	450	Q6P1W5	CA094_HUMAN	V	260;450	ENSP00000362472:A260V;ENSP00000435634:A450V	ENSP00000362472:A260V	A	+	2	0	C1orf94	34440350	0.005000	0.15991	0.675000	0.29917	0.928000	0.56348	1.329000	0.33770	2.695000	0.91970	0.462000	0.41574	GCC	C1orf94	-	NULL	ENSG00000142698		0.507	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	64	0.00	0	C	NM_032884		34667763	34667763	+1	no_errors	ENST00000488417	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.732	T
C2orf71	388939	genome.wustl.edu	37	2	29296409	29296409	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:29296409C>T	ENST00000331664.5	-	1	718	c.719G>A	c.(718-720)gGa>gAa	p.G240E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	240					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAGCACTTCTCCATCCTTGGA	0.577																																						dbGAP											0													71.0	74.0	73.0					2																	29296409		2036	4201	6237	-	-	-	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.719G>A	2.37:g.29296409C>T	ENSP00000332809:p.Gly240Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G240E	ENST00000331664.5	37	c.719	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707996	0.89018	.	.	ENSG00000179270	ENST00000331664	T	0.57107	0.42	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.75634	-0.3250	10	0.87932	D	0	-13.389	19.6596	0.95859	0.0:1.0:0.0:0.0	.	240	A6NGG8	CB071_HUMAN	E	240	ENSP00000332809:G240E	ENSP00000332809:G240E	G	-	2	0	C2orf71	29149913	1.000000	0.71417	0.937000	0.37676	0.959000	0.62525	7.616000	0.83018	2.648000	0.89879	0.561000	0.74099	GGA	C2orf71	-	NULL	ENSG00000179270		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	63	0.00	0	C	NM_001029883		29296409	29296409	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	missense	35	23.91	11	SNP	1.000	T
C2orf71	388939	genome.wustl.edu	37	2	29296409	29296409	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:29296409C>T	ENST00000331664.5	-	1	718	c.719G>A	c.(718-720)gGa>gAa	p.G240E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	240					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GAGCACTTCTCCATCCTTGGA	0.577																																						dbGAP											0													71.0	74.0	73.0					2																	29296409		2036	4201	6237	-	-	-	SO:0001583	missense	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.719G>A	2.37:g.29296409C>T	ENSP00000332809:p.Gly240Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.G240E	ENST00000331664.5	37	c.719	CCDS42669.1	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707996	0.89018	.	.	ENSG00000179270	ENST00000331664	T	0.57107	0.42	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	M	0.70275	2.135	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.75634	-0.3250	10	0.87932	D	0	-13.389	19.6596	0.95859	0.0:1.0:0.0:0.0	.	240	A6NGG8	CB071_HUMAN	E	240	ENSP00000332809:G240E	ENSP00000332809:G240E	G	-	2	0	C2orf71	29149913	1.000000	0.71417	0.937000	0.37676	0.959000	0.62525	7.616000	0.83018	2.648000	0.89879	0.561000	0.74099	GGA	C2orf71	-	NULL	ENSG00000179270		0.577	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	56	0.00	0	C	NM_001029883		29296409	29296409	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	missense	35	23.91	11	SNP	1.000	T
C3P1	388503	genome.wustl.edu	37	19	10166387	10166387	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:10166387G>A	ENST00000495140.1	+	0	1745							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CAGGCAGGCAGAGGATGGGCA	0.572																																						dbGAP											0													94.0	85.0	88.0					19																	10166387		2056	4211	6267	-	-	-			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10166387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.572	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	91	0.00	0	G	NR_027300		10166387	10166387	+1	no_errors	ENST00000495140	ensembl	human	known	69_37n	rna	43	35.82	24	SNP	0.123	A
C3P1	388503	genome.wustl.edu	37	19	10166387	10166387	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:10166387G>A	ENST00000495140.1	+	0	1745							Q6ZMU1	C3P1_HUMAN	complement component 3 precursor pseudogene							extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)			endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CAGGCAGGCAGAGGATGGGCA	0.572																																						dbGAP											0													94.0	85.0	88.0					19																	10166387		2056	4211	6267	-	-	-			0			AK131489		19p13.2	2009-04-08			ENSG00000167798	ENSG00000167798			34414	pseudogene	pseudogene							Standard	NR_027300		Approved	CPLP	uc010dwx.2	Q6ZMU1	OTTHUMG00000158555		19.37:g.10166387G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000495140.1	37	NULL		19																																																																																			C3P1	-	-	ENSG00000167798		0.572	C3P1-002	KNOWN	basic	processed_transcript	C3P1	HGNC	pseudogene	OTTHUMT00000351284.1	88	0.00	0	G	NR_027300		10166387	10166387	+1	no_errors	ENST00000495140	ensembl	human	known	69_37n	rna	43	35.82	24	SNP	0.123	A
SIMC1	375484	genome.wustl.edu	37	5	175722213	175722213	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:175722213G>A	ENST00000443967.1	+	5	1962	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	SIMC1_ENST00000430704.2_Missense_Mutation_p.E104K|SIMC1_ENST00000429602.2_Missense_Mutation_p.E538K|SIMC1_ENST00000341199.6_Missense_Mutation_p.E104K			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	519							SUMO polymer binding (GO:0032184)										CAGTGGCTCTGAGACTGTGGA	0.478																																						dbGAP											0													32.0	29.0	30.0					5																	175722213		2202	4296	6498	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1555G>A	5.37:g.175722213G>A	ENSP00000406571:p.Glu519Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.E519K	ENST00000443967.1	37	c.1555		5	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800875	0.50315	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000429602	T;T;T;T	0.42131	1.86;1.86;0.98;0.98	4.24	3.27	0.37495	.	0.498042	0.19628	N	0.109758	T	0.43255	0.1239	L	0.48642	1.525	0.21386	N	0.999705	P;B;P	0.51147	0.939;0.426;0.942	P;B;P	0.53185	0.72;0.199;0.487	T	0.19712	-1.0297	10	0.13108	T	0.6	-19.6336	11.118	0.48273	0.1088:0.0:0.8912:0.0	.	538;104;519	B4DRM7;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	K	104;104;519;538	ENSP00000342075:E104K;ENSP00000409287:E104K;ENSP00000406571:E519K;ENSP00000410552:E538K	ENSP00000342075:E104K	E	+	1	0	C5orf25	175654819	0.725000	0.28048	1.000000	0.80357	0.987000	0.75469	1.891000	0.39738	2.185000	0.69588	0.609000	0.83330	GAG	C5orf25	-	NULL	ENSG00000170085		0.478	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	112	0.88	1	G	NM_198567		175722213	175722213	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.698	A
SIMC1	375484	genome.wustl.edu	37	5	175722213	175722213	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:175722213G>A	ENST00000443967.1	+	5	1962	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	SIMC1_ENST00000430704.2_Missense_Mutation_p.E104K|SIMC1_ENST00000429602.2_Missense_Mutation_p.E538K|SIMC1_ENST00000341199.6_Missense_Mutation_p.E104K			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	519							SUMO polymer binding (GO:0032184)										CAGTGGCTCTGAGACTGTGGA	0.478																																						dbGAP											0													32.0	29.0	30.0					5																	175722213		2202	4296	6498	-	-	-	SO:0001583	missense	0			BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.1555G>A	5.37:g.175722213G>A	ENSP00000406571:p.Glu519Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	NULL	p.E519K	ENST00000443967.1	37	c.1555		5	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800875	0.50315	.	.	ENSG00000170085	ENST00000341199;ENST00000430704;ENST00000443967;ENST00000429602	T;T;T;T	0.42131	1.86;1.86;0.98;0.98	4.24	3.27	0.37495	.	0.498042	0.19628	N	0.109758	T	0.43255	0.1239	L	0.48642	1.525	0.21386	N	0.999705	P;B;P	0.51147	0.939;0.426;0.942	P;B;P	0.53185	0.72;0.199;0.487	T	0.19712	-1.0297	10	0.13108	T	0.6	-19.6336	11.118	0.48273	0.1088:0.0:0.8912:0.0	.	538;104;519	B4DRM7;Q8NDZ2-3;Q8NDZ2	.;.;CE025_HUMAN	K	104;104;519;538	ENSP00000342075:E104K;ENSP00000409287:E104K;ENSP00000406571:E519K;ENSP00000410552:E538K	ENSP00000342075:E104K	E	+	1	0	C5orf25	175654819	0.725000	0.28048	1.000000	0.80357	0.987000	0.75469	1.891000	0.39738	2.185000	0.69588	0.609000	0.83330	GAG	C5orf25	-	NULL	ENSG00000170085		0.478	SIMC1-001	KNOWN	basic	protein_coding	C5orf25	HGNC	protein_coding	OTTHUMT00000253155.2	90	0.00	0	G	NM_198567		175722213	175722213	+1	no_errors	ENST00000443967	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.698	A
C6orf47	57827	genome.wustl.edu	37	6	31627618	31627618	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:31627618G>C	ENST00000375911.1	-	1	931	c.107C>G	c.(106-108)tCg>tGg	p.S36W	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	36						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TGAATTCTCCGAGGAGCTGTC	0.612																																						dbGAP											0													36.0	35.0	35.0					6																	31627618		1511	2708	4219	-	-	-	SO:0001583	missense	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.107C>G	6.37:g.31627618G>C	ENSP00000365076:p.Ser36Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	NULL	p.S36W	ENST00000375911.1	37	c.107	CCDS34399.1	6	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833785	0.71258	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.33216	1.42	5.44	5.44	0.79542	.	0.478886	0.17673	N	0.165884	T	0.35624	0.0938	L	0.51422	1.61	0.39686	D	0.970975	D	0.54964	0.969	P	0.57204	0.815	T	0.05451	-1.0884	10	0.66056	D	0.02	-1.0479	14.6416	0.68729	0.0:0.0:1.0:0.0	.	36	O95873	CF047_HUMAN	W	36	ENSP00000365076:S36W	ENSP00000365076:S36W	S	-	2	0	C6orf47	31735597	1.000000	0.71417	0.913000	0.36048	0.764000	0.43329	4.229000	0.58625	2.837000	0.97791	0.655000	0.94253	TCG	C6orf47	-	NULL	ENSG00000204439		0.612	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	47	0.00	0	G	NM_021184		31627618	31627618	-1	no_errors	ENST00000375911	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.867	C
C6orf47	57827	genome.wustl.edu	37	6	31627618	31627618	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:31627618G>C	ENST00000375911.1	-	1	931	c.107C>G	c.(106-108)tCg>tGg	p.S36W	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	36						cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TGAATTCTCCGAGGAGCTGTC	0.612																																						dbGAP											0													36.0	35.0	35.0					6																	31627618		1511	2708	4219	-	-	-	SO:0001583	missense	0			AF129756	CCDS34399.1	6p21.3	2011-12-13			ENSG00000204439	ENSG00000204439			19076	protein-coding gene	gene with protein product						2477242	Standard	NM_021184		Approved	D6S53E, G4	uc003nvm.1	O95873	OTTHUMG00000031172	ENST00000375911.1:c.107C>G	6.37:g.31627618G>C	ENSP00000365076:p.Ser36Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXA1|B0UZ50|Q5SSS6|Q95IG0	Missense_Mutation	SNP	NULL	p.S36W	ENST00000375911.1	37	c.107	CCDS34399.1	6	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833785	0.71258	.	.	ENSG00000204439	ENST00000375911;ENST00000538106	T	0.33216	1.42	5.44	5.44	0.79542	.	0.478886	0.17673	N	0.165884	T	0.35624	0.0938	L	0.51422	1.61	0.39686	D	0.970975	D	0.54964	0.969	P	0.57204	0.815	T	0.05451	-1.0884	10	0.66056	D	0.02	-1.0479	14.6416	0.68729	0.0:0.0:1.0:0.0	.	36	O95873	CF047_HUMAN	W	36	ENSP00000365076:S36W	ENSP00000365076:S36W	S	-	2	0	C6orf47	31735597	1.000000	0.71417	0.913000	0.36048	0.764000	0.43329	4.229000	0.58625	2.837000	0.97791	0.655000	0.94253	TCG	C6orf47	-	NULL	ENSG00000204439		0.612	C6orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf47	HGNC	protein_coding	OTTHUMT00000076324.1	38	0.00	0	G	NM_021184		31627618	31627618	-1	no_errors	ENST00000375911	ensembl	human	known	69_37n	missense	41	12.77	6	SNP	0.867	C
C9orf135	138255	genome.wustl.edu	37	9	72520983	72520983	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:72520983G>A	ENST00000377197.3	+	6	708	c.621G>A	c.(619-621)ggG>ggA	p.G207G	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	207						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATGAGAGTGGGATTTATGCTA	0.368																																						dbGAP											0													132.0	127.0	129.0					9																	72520983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.621G>A	9.37:g.72520983G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U4|B2RN61	Silent	SNP	NULL	p.G207	ENST00000377197.3	37	c.621	CCDS35041.1	9																																																																																			C9orf135	-	NULL	ENSG00000204711		0.368	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	87	0.00	0	G	NM_001010940		72520983	72520983	+1	no_errors	ENST00000377197	ensembl	human	known	69_37n	silent	67	27.17	25	SNP	0.996	A
C9orf135	138255	genome.wustl.edu	37	9	72520983	72520983	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:72520983G>A	ENST00000377197.3	+	6	708	c.621G>A	c.(619-621)ggG>ggA	p.G207G	C9orf135_ENST00000527647.1_3'UTR|C9orf135_ENST00000466872.2_3'UTR	NM_001010940.1	NP_001010940.1	Q5VTT2	CI135_HUMAN	chromosome 9 open reading frame 135	207						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						ATGAGAGTGGGATTTATGCTA	0.368																																						dbGAP											0													132.0	127.0	129.0					9																	72520983		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35041.1	9q21.11	2013-06-07	2013-06-07	2013-06-07	ENSG00000204711	ENSG00000204711			31422	protein-coding gene	gene with protein product							Standard	XM_005251705		Approved		uc004ahl.3	Q5VTT2	OTTHUMG00000019985	ENST00000377197.3:c.621G>A	9.37:g.72520983G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U4|B2RN61	Silent	SNP	NULL	p.G207	ENST00000377197.3	37	c.621	CCDS35041.1	9																																																																																			C9orf135	-	NULL	ENSG00000204711		0.368	C9orf135-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C9orf135	HGNC	protein_coding	OTTHUMT00000052591.1	88	0.00	0	G	NM_001010940		72520983	72520983	+1	no_errors	ENST00000377197	ensembl	human	known	69_37n	silent	67	27.17	25	SNP	0.996	A
CADM3	57863	genome.wustl.edu	37	1	159166750	159166750	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:159166750G>A	ENST00000368125.4	+	7	1009	c.852G>A	c.(850-852)ctG>ctA	p.L284L	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.L318L|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	284	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGAGTGCCCTGATCTTCCCTT	0.557																																						dbGAP											0													129.0	110.0	116.0					1																	159166750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.852G>A	1.37:g.159166750G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.L318	ENST00000368125.4	37	c.954	CCDS44251.1	1																																																																																			CADM3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162706		0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	52	0.00	0	G	NM_021189		159166750	159166750	+1	no_errors	ENST00000368124	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.991	A
CADM3	57863	genome.wustl.edu	37	1	159166750	159166750	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:159166750G>A	ENST00000368125.4	+	7	1009	c.852G>A	c.(850-852)ctG>ctA	p.L284L	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.L318L|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	284	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGAGTGCCCTGATCTTCCCTT	0.557																																						dbGAP											0													129.0	110.0	116.0					1																	159166750		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.852G>A	1.37:g.159166750G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.L318	ENST00000368125.4	37	c.954	CCDS44251.1	1																																																																																			CADM3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000162706		0.557	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CADM3	HGNC	protein_coding	OTTHUMT00000090330.1	52	0.00	0	G	NM_021189		159166750	159166750	+1	no_errors	ENST00000368124	ensembl	human	known	69_37n	silent	22	21.43	6	SNP	0.991	A
CADPS2	93664	genome.wustl.edu	37	7	121960230	121960230	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:121960230C>T	ENST00000449022.2	-	30	3899	c.3880G>A	c.(3880-3882)Gaa>Aaa	p.E1294K	CADPS2_ENST00000412584.2_Missense_Mutation_p.E1253K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E1253K|CADPS2_ENST00000334010.7_Missense_Mutation_p.E1292K	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1294					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCCTTCTTCTTCTTCGTCA	0.408																																						dbGAP											0													167.0	158.0	161.0					7																	121960230		1928	4122	6050	-	-	-	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3880G>A	7.37:g.121960230C>T	ENSP00000398481:p.Glu1294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1294K	ENST00000449022.2	37	c.3880	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257608|4.257608	0.80246|0.80246	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.44083|.	0.94;0.93;0.93;0.93|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.245935|.	0.40469|.	N|.	0.001083|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B|.	0.37688|.	0.605;0.152;0.605;0.039|.	B;B;B;B|.	0.26202|.	0.067;0.023;0.067;0.022|.	T|T	0.63368|0.63368	-0.6653|-0.6653	10|5	0.54805|.	T|.	0.06|.	-13.314|-13.314	19.6973|19.6973	0.96031|0.96031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1298;1253;1294;1248|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	K|K	467;1253;1292;1299;1220;1253;1294|896	ENSP00000325581:E1253K;ENSP00000333940:E1292K;ENSP00000400401:E1253K;ENSP00000398481:E1294K|.	ENSP00000325581:E1253K|.	E|R	-|-	1|2	0|0	CADPS2|CADPS2	121747466|121747466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.129000|7.129000	0.77225|0.77225	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CADPS2	-	NULL	ENSG00000081803		0.408	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	117	0.00	0	C	NM_017954		121960230	121960230	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	1.000	T
CADPS2	93664	genome.wustl.edu	37	7	121960230	121960230	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:121960230C>T	ENST00000449022.2	-	30	3899	c.3880G>A	c.(3880-3882)Gaa>Aaa	p.E1294K	CADPS2_ENST00000412584.2_Missense_Mutation_p.E1253K|CADPS2_ENST00000313070.7_Missense_Mutation_p.E1253K|CADPS2_ENST00000334010.7_Missense_Mutation_p.E1292K	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1294					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGCCTTCTTCTTCTTCGTCA	0.408																																						dbGAP											0													167.0	158.0	161.0					7																	121960230		1928	4122	6050	-	-	-	SO:0001583	missense	0				CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3880G>A	7.37:g.121960230C>T	ENSP00000398481:p.Glu1294Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E1294K	ENST00000449022.2	37	c.3880	CCDS55158.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.257608|4.257608	0.80246|0.80246	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000397721	T;T;T;T|.	0.44083|.	0.94;0.93;0.93;0.93|.	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.245935|.	0.40469|.	N|.	0.001083|.	T|T	0.68668|0.68668	0.3026|0.3026	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	P;B;P;B|.	0.37688|.	0.605;0.152;0.605;0.039|.	B;B;B;B|.	0.26202|.	0.067;0.023;0.067;0.022|.	T|T	0.63368|0.63368	-0.6653|-0.6653	10|5	0.54805|.	T|.	0.06|.	-13.314|-13.314	19.6973|19.6973	0.96031|0.96031	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1298;1253;1294;1248|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	K|K	467;1253;1292;1299;1220;1253;1294|896	ENSP00000325581:E1253K;ENSP00000333940:E1292K;ENSP00000400401:E1253K;ENSP00000398481:E1294K|.	ENSP00000325581:E1253K|.	E|R	-|-	1|2	0|0	CADPS2|CADPS2	121747466|121747466	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.129000|7.129000	0.77225|0.77225	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CADPS2	-	NULL	ENSG00000081803		0.408	CADPS2-001	KNOWN	basic|CCDS	protein_coding	CADPS2	HGNC	protein_coding	OTTHUMT00000347414.2	101	0.00	0	C	NM_017954		121960230	121960230	-1	no_errors	ENST00000449022	ensembl	human	known	69_37n	missense	62	21.52	17	SNP	1.000	T
CAMK4	814	genome.wustl.edu	37	5	110809044	110809044	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:110809044G>C	ENST00000282356.4	+	8	1059	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E221Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTATGGACCTGAGGTGGACAT	0.333																																						dbGAP											0													145.0	149.0	148.0					5																	110809044		2202	4300	6502	-	-	-	SO:0001583	missense	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.661G>C	5.37:g.110809044G>C	ENSP00000282356:p.Glu221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ7	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	p.E221Q	ENST00000282356.4	37	c.661	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561782	0.86335	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.50001	0.76;0.76	5.88	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051811	0.85682	D	0.000000	T	0.52025	0.1709	N	0.13168	0.305	0.52099	D	0.999941	D	0.89917	1.0	D	0.73380	0.98	T	0.56944	-0.7895	10	0.42905	T	0.14	.	16.2533	0.82498	0.0:0.0:0.8663:0.1337	.	221	Q16566	KCC4_HUMAN	Q	221	ENSP00000422634:E221Q;ENSP00000282356:E221Q	ENSP00000282356:E221Q	E	+	1	0	CAMK4	110836943	1.000000	0.71417	0.923000	0.36655	0.998000	0.95712	9.107000	0.94261	1.436000	0.47453	0.655000	0.94253	GAG	CAMK4	-	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	ENSG00000152495		0.333	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	79	0.00	0	G	NM_001744		110809044	110809044	+1	no_errors	ENST00000282356	ensembl	human	known	69_37n	missense	37	32.73	18	SNP	1.000	C
CAMK4	814	genome.wustl.edu	37	5	110809044	110809044	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:110809044G>C	ENST00000282356.4	+	8	1059	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	CAMK4_ENST00000512453.1_Missense_Mutation_p.E221Q	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	221	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTATGGACCTGAGGTGGACAT	0.333																																						dbGAP											0													145.0	149.0	148.0					5																	110809044		2202	4300	6502	-	-	-	SO:0001583	missense	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.661G>C	5.37:g.110809044G>C	ENSP00000282356:p.Glu221Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSZ7	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	p.E221Q	ENST00000282356.4	37	c.661	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561782	0.86335	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.50001	0.76;0.76	5.88	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051811	0.85682	D	0.000000	T	0.52025	0.1709	N	0.13168	0.305	0.52099	D	0.999941	D	0.89917	1.0	D	0.73380	0.98	T	0.56944	-0.7895	10	0.42905	T	0.14	.	16.2533	0.82498	0.0:0.0:0.8663:0.1337	.	221	Q16566	KCC4_HUMAN	Q	221	ENSP00000422634:E221Q;ENSP00000282356:E221Q	ENSP00000282356:E221Q	E	+	1	0	CAMK4	110836943	1.000000	0.71417	0.923000	0.36655	0.998000	0.95712	9.107000	0.94261	1.436000	0.47453	0.655000	0.94253	GAG	CAMK4	-	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	ENSG00000152495		0.333	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	61	0.00	0	G	NM_001744		110809044	110809044	+1	no_errors	ENST00000282356	ensembl	human	known	69_37n	missense	37	32.73	18	SNP	1.000	C
CAMSAP1	157922	genome.wustl.edu	37	9	138702977	138702977	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:138702977G>A	ENST00000389532.4	-	0	5051				CAMSAP1_ENST00000409386.3_3'UTR|CAMSAP1_ENST00000312405.6_3'UTR|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1						cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGAGCGCTGAGAGAGGGGTTT	0.522																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.*178C>T	9.37:g.138702977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	RNA	SNP	-	NULL	ENST00000389532.4	37	NULL	CCDS35176.2	9																																																																																			CAMSAP1	-	-	ENSG00000130559		0.522	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	53	0.00	0	G	XM_351857		138702977	138702977	-1	no_errors	ENST00000483991	ensembl	human	known	69_37n	rna	37	21.28	10	SNP	0.005	A
CAMSAP1	157922	genome.wustl.edu	37	9	138702977	138702977	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:138702977G>A	ENST00000389532.4	-	0	5051				CAMSAP1_ENST00000409386.3_3'UTR|CAMSAP1_ENST00000312405.6_3'UTR|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1						cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGAGCGCTGAGAGAGGGGTTT	0.522																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.*178C>T	9.37:g.138702977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	RNA	SNP	-	NULL	ENST00000389532.4	37	NULL	CCDS35176.2	9																																																																																			CAMSAP1	-	-	ENSG00000130559		0.522	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMSAP1	HGNC	protein_coding	OTTHUMT00000055024.2	57	0.00	0	G	XM_351857		138702977	138702977	-1	no_errors	ENST00000483991	ensembl	human	known	69_37n	rna	37	21.28	10	SNP	0.005	A
CANX	821	genome.wustl.edu	37	5	179147436	179147436	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:179147436C>A	ENST00000247461.4	+	10	1257	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	CANX_ENST00000504734.1_Missense_Mutation_p.P353T|CANX_ENST00000512607.2_Missense_Mutation_p.P245T|CANX_ENST00000415618.2_Missense_Mutation_p.P388T|CANX_ENST00000452673.2_Missense_Mutation_p.P353T	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	353	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATGGGAGGCTCCTCAGATTGC	0.498																																						dbGAP											0													140.0	133.0	135.0					5																	179147436		2203	4300	6503	-	-	-	SO:0001583	missense	0			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1057C>A	5.37:g.179147436C>A	ENSP00000247461:p.Pro353Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.P388T	ENST00000247461.4	37	c.1162	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.360211	0.95877	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.77	5.77	0.91146	Calreticulin/calnexin, P (2);	0.096117	0.64402	D	0.000001	D	0.88145	0.6358	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.998	D	0.90797	0.4691	10	0.72032	D	0.01	-14.3285	19.9727	0.97289	0.0:1.0:0.0:0.0	.	388;289;353	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	T	353;388;353;353;289;245;289	ENSP00000424063:P353T;ENSP00000394817:P388T;ENSP00000391646:P353T;ENSP00000247461:P353T;ENSP00000421107:P289T;ENSP00000423588:P245T	ENSP00000247461:P353T	P	+	1	0	CANX	179080042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.723000	0.93209	0.650000	0.86243	CCT	CANX	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	ENSG00000127022		0.498	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	125	0.00	0	C	NM_001024649		179147436	179147436	+1	no_errors	ENST00000415618	ensembl	human	known	69_37n	missense	70	26.32	25	SNP	1.000	A
CANX	821	genome.wustl.edu	37	5	179147436	179147436	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:179147436C>A	ENST00000247461.4	+	10	1257	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	CANX_ENST00000504734.1_Missense_Mutation_p.P353T|CANX_ENST00000512607.2_Missense_Mutation_p.P245T|CANX_ENST00000415618.2_Missense_Mutation_p.P388T|CANX_ENST00000452673.2_Missense_Mutation_p.P353T	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	353	4 X approximate repeats.|Interaction with PPIB. {ECO:0000250}.|P domain (Extended arm). {ECO:0000250}.				aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	ATGGGAGGCTCCTCAGATTGC	0.498																																						dbGAP											0													140.0	133.0	135.0					5																	179147436		2203	4300	6503	-	-	-	SO:0001583	missense	0			L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.1057C>A	5.37:g.179147436C>A	ENSP00000247461:p.Pro353Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	p.P388T	ENST00000247461.4	37	c.1162	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	C	34	5.360211	0.95877	.	.	ENSG00000127022	ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502673;ENST00000512607;ENST00000376953	T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.77	5.77	0.91146	Calreticulin/calnexin, P (2);	0.096117	0.64402	D	0.000001	D	0.88145	0.6358	H	0.95745	3.715	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.999;0.993;0.998	D	0.90797	0.4691	10	0.72032	D	0.01	-14.3285	19.9727	0.97289	0.0:1.0:0.0:0.0	.	388;289;353	B4DGP8;Q6ZP56;P27824	.;.;CALX_HUMAN	T	353;388;353;353;289;245;289	ENSP00000424063:P353T;ENSP00000394817:P388T;ENSP00000391646:P353T;ENSP00000247461:P353T;ENSP00000421107:P289T;ENSP00000423588:P245T	ENSP00000247461:P353T	P	+	1	0	CANX	179080042	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.723000	0.93209	0.650000	0.86243	CCT	CANX	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex	ENSG00000127022		0.498	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	106	0.00	0	C	NM_001024649		179147436	179147436	+1	no_errors	ENST00000415618	ensembl	human	known	69_37n	missense	70	26.32	25	SNP	1.000	A
GLIPR1L2	144321	genome.wustl.edu	37	12	75784631	75784633	+	5'Flank	DEL	TTC	TTC	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:75784631_75784633delTTC	ENST00000550916.1	+	0	0				GLIPR1L2_ENST00000378692.3_5'Flank|GLIPR1L2_ENST00000441218.1_5'Flank|GLIPR1L2_ENST00000547164.1_5'Flank|GLIPR1L2_ENST00000378689.2_5'Flank|GLIPR1L2_ENST00000320460.4_5'Flank|GLIPR1L2_ENST00000435775.1_5'Flank|CAPS2_ENST00000442339.2_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ACACAAGTCTTTCTTTAGTTTGT	0.429																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756		12.37:g.75784631_75784633delTTC	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZS1|Q8N6N0|Q8NA43	In_Frame_Del	DEL	NULL	p.K7in_frame_del	ENST00000550916.1	37	c.20_18	CCDS58258.1	12																																																																																			CAPS2	-	NULL	ENSG00000180881		0.429	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000405718.1	34	0.00	0	TTC	NM_152436		75784631	75784633	-1	no_errors	ENST00000336815	ensembl	human	known	69_37n	in_frame_del	26	21.21	7	DEL	0.001:0.000:0.000	-
GLIPR1L2	144321	genome.wustl.edu	37	12	75784631	75784633	+	5'Flank	DEL	TTC	TTC	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:75784631_75784633delTTC	ENST00000550916.1	+	0	0				GLIPR1L2_ENST00000378692.3_5'Flank|GLIPR1L2_ENST00000441218.1_5'Flank|GLIPR1L2_ENST00000547164.1_5'Flank|GLIPR1L2_ENST00000378689.2_5'Flank|GLIPR1L2_ENST00000320460.4_5'Flank|GLIPR1L2_ENST00000435775.1_5'Flank|CAPS2_ENST00000442339.2_5'UTR	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						ACACAAGTCTTTCTTTAGTTTGT	0.429																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756		12.37:g.75784631_75784633delTTC	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZS1|Q8N6N0|Q8NA43	In_Frame_Del	DEL	NULL	p.K7in_frame_del	ENST00000550916.1	37	c.20_18	CCDS58258.1	12																																																																																			CAPS2	-	NULL	ENSG00000180881		0.429	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPS2	HGNC	protein_coding	OTTHUMT00000405718.1	46	0.00	0	TTC	NM_152436		75784631	75784633	-1	no_errors	ENST00000336815	ensembl	human	known	69_37n	in_frame_del	26	21.21	7	DEL	0.001:0.000:0.000	-
CASP8	841	genome.wustl.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											137.0	122.0	127.0					2																	202149751		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q398*	ENST00000432109.2	37	c.1192	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	46	0.00	0	C	NM_001228		202149751	202149751	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	nonsense	31	24.39	10	SNP	0.935	T
CASP8	841	genome.wustl.edu	37	2	202149751	202149751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:202149751C>T	ENST00000432109.2	+	9	1204	c.1015C>T	c.(1015-1017)Cag>Tag	p.Q339*	CASP8_ENST00000358485.4_Nonsense_Mutation_p.Q398*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.Q356*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.Q324*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.Q255*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	339					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.Q356*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCTGACATCTCAGTTCACTGG	0.478										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											137.0	122.0	127.0					2																	202149751		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1015C>T	2.37:g.202149751C>T	ENSP00000412523:p.Gln339*	Somatic		WXS	Illumina GAIIx	Phase_IV	O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.Q398*	ENST00000432109.2	37	c.1192	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854178	0.91355	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.68	4.54	0.55810	.	0.380203	0.30556	N	0.009380	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.8752	0.46906	0.0:0.075:0.0:0.925	.	.	.	.	X	324;255;339;356;398;324;118	.	ENSP00000264274:Q255X	Q	+	1	0	CASP8	201857996	0.217000	0.23597	1.000000	0.80357	0.645000	0.38454	3.232000	0.51302	1.004000	0.39156	-0.367000	0.07326	CAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20	ENSG00000064012		0.478	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	29	0.00	0	C	NM_001228		202149751	202149751	+1	no_errors	ENST00000358485	ensembl	human	known	69_37n	nonsense	31	24.39	10	SNP	0.935	T
CAST	831	genome.wustl.edu	37	5	96082070	96082070	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:96082070G>A	ENST00000341926.3	+	15	1138	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CAST_ENST00000504465.1_Missense_Mutation_p.E254K|CAST_ENST00000508830.1_Missense_Mutation_p.E409K|CAST_ENST00000359176.4_Missense_Mutation_p.E390K|CAST_ENST00000509903.1_Missense_Mutation_p.E291K|CAST_ENST00000511782.1_Missense_Mutation_p.E312K|CAST_ENST00000508608.1_Missense_Mutation_p.E372K|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.E313K|CAST_ENST00000395813.1_Missense_Mutation_p.E409K|CAST_ENST00000325674.7_Missense_Mutation_p.E374K|CAST_ENST00000508579.1_Missense_Mutation_p.E41K|CAST_ENST00000395812.2_Missense_Mutation_p.E368K|CAST_ENST00000511049.1_Missense_Mutation_p.E312K|CAST_ENST00000309190.5_Missense_Mutation_p.E304K|CAST_ENST00000510756.1_Missense_Mutation_p.E387K|CAST_ENST00000515663.1_Missense_Mutation_p.E49K			P20810	ICAL_HUMAN	calpastatin	326					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		AGAAAAACTAGAGAAGTGTGG	0.388																																						dbGAP											0													111.0	112.0	112.0					5																	96082070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.976G>A	5.37:g.96082070G>A	ENSP00000339914:p.Glu326Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	pfam_Prot_inh_calpain	p.E409K	ENST00000341926.3	37	c.1225		5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.76|10.76	1.442379|1.442379	0.25987|0.25987	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000511097;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000503828;ENST00000515663|ENST00000510500	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.19938|.	2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11;2.11|.	6.17|6.17	2.95|2.95	0.34219|0.34219	.|.	0.325480|.	0.35040|.	N|.	0.003498|.	T|T	0.20981|0.20981	0.0505|0.0505	N|N	0.10733|0.10733	0.035|0.035	0.32292|0.32292	N|N	0.566193|0.566193	B;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.63046|.	0.003;0.002;0.011;0.992;0.0;0.261;0.002;0.002;0.001;0.002;0.005;0.002;0.014;0.002;0.009;0.008;0.001|.	B;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.76071|.	0.01;0.009;0.015;0.987;0.003;0.14;0.019;0.019;0.006;0.006;0.052;0.006;0.023;0.009;0.013;0.044;0.006|.	T|T	0.27502|0.27502	-1.0072|-1.0072	10|5	0.14656|.	T|.	0.56|.	-8.4193|-8.4193	6.0318|6.0318	0.19684|0.19684	0.6847:0.0:0.3153:0.0|0.6847:0.0:0.3153:0.0	.|.	254;174;372;49;77;49;312;291;304;285;326;374;368;390;387;409;313|.	E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	K|K	313;409;374;409;390;374;368;387;372;326;312;304;326;254;291;312;41;41;49|83	ENSP00000343421:E313K;ENSP00000425721:E409K;ENSP00000422951:E374K;ENSP00000379158:E409K;ENSP00000352098:E390K;ENSP00000320319:E374K;ENSP00000379157:E368K;ENSP00000422176:E387K;ENSP00000422677:E372K;ENSP00000339914:E326K;ENSP00000421130:E312K;ENSP00000312523:E304K;ENSP00000422325:E326K;ENSP00000425670:E254K;ENSP00000426946:E291K;ENSP00000423638:E312K;ENSP00000425787:E41K;ENSP00000422807:E41K;ENSP00000422929:E49K|.	ENSP00000312523:E304K|.	E|R	+|+	1|2	0|0	CAST|CAST	96107826|96107826	0.405000|0.405000	0.25336|0.25336	0.340000|0.340000	0.25575|0.25575	0.958000|0.958000	0.62258|0.62258	0.723000|0.723000	0.25939|0.25939	0.344000|0.344000	0.23847|0.23847	0.655000|0.655000	0.94253|0.94253	GAG|AGA	CAST	-	pfam_Prot_inh_calpain	ENSG00000153113		0.388	CAST-004	KNOWN	basic	protein_coding	CAST	HGNC	protein_coding	OTTHUMT00000250199.2	84	0.00	0	G	NM_173062		96082070	96082070	+1	no_errors	ENST00000395813	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	0.673	A
CBX5	23468	genome.wustl.edu	37	12	54645966	54645966	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:54645966C>G	ENST00000439541.2	-	3	308	c.183G>C	c.(181-183)gaG>gaC	p.E61D	CBX5_ENST00000550411.1_Missense_Mutation_p.E61D|CBX5_ENST00000209875.4_Missense_Mutation_p.E61D	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	61	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CAGAAATTAGCTCAGGGCAAT	0.368																																					Colon(153;588 2459 18334 48613)	dbGAP											0													79.0	82.0	81.0					12																	54645966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.183G>C	12.37:g.54645966C>G	ENSP00000401009:p.Glu61Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T9	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E61D	ENST00000439541.2	37	c.183	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106663	0.06924	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.22	0.498	0.16908	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	N	0.11845	0.185	0.54753	D	0.999989	D;B	0.56035	0.974;0.048	D;B	0.67725	0.953;0.173	T	0.60047	-0.7339	10	0.02654	T	1	-16.2533	7.6901	0.28563	0.0:0.387:0.0:0.613	.	61;61	G3V1X9;P45973	.;CBX5_HUMAN	D	61	ENSP00000209875:E61D;ENSP00000401009:E61D;ENSP00000449207:E61D;ENSP00000450190:E61D	ENSP00000209875:E61D	E	-	3	2	CBX5	52932233	0.949000	0.32298	1.000000	0.80357	0.991000	0.79684	0.069000	0.14552	0.227000	0.20999	0.655000	0.94253	GAG	CBX5	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000094916		0.368	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	HGNC	protein_coding	OTTHUMT00000405468.1	45	0.00	0	C	NM_012117		54645966	54645966	-1	no_errors	ENST00000209875	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.997	G
CBX5	23468	genome.wustl.edu	37	12	54645966	54645966	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:54645966C>G	ENST00000439541.2	-	3	308	c.183G>C	c.(181-183)gaG>gaC	p.E61D	CBX5_ENST00000550411.1_Missense_Mutation_p.E61D|CBX5_ENST00000209875.4_Missense_Mutation_p.E61D	NM_001127321.1	NP_001120793.1	P45973	CBX5_HUMAN	chromobox homolog 5	61	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				blood coagulation (GO:0007596)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	chromocenter (GO:0010369)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear heterochromatin (GO:0005720)|nuclear pericentric heterochromatin (GO:0031618)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|protein binding, bridging (GO:0030674)|repressing transcription factor binding (GO:0070491)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CAGAAATTAGCTCAGGGCAAT	0.368																																					Colon(153;588 2459 18334 48613)	dbGAP											0													79.0	82.0	81.0					12																	54645966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U26311	CCDS8875.1	12q13.13	2010-07-06	2010-06-24		ENSG00000094916	ENSG00000094916			1555	protein-coding gene	gene with protein product	"""HP1 alpha homolog (Drosophila)"""	604478	"""chromobox homolog 5 (Drosophila HP1 alpha)"", ""chromobox homolog 5 (HP1 alpha homolog, Drosophila)"""			8663349	Standard	NM_012117		Approved	HP1Hs-alpha, HP1, HP1-ALPHA	uc001sfj.4	P45973		ENST00000439541.2:c.183G>C	12.37:g.54645966C>G	ENSP00000401009:p.Glu61Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T9	Missense_Mutation	SNP	pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.E61D	ENST00000439541.2	37	c.183	CCDS8875.1	12	.	.	.	.	.	.	.	.	.	.	C	3.477	-0.106663	0.06924	.	.	ENSG00000094916	ENST00000209875;ENST00000439541;ENST00000550489;ENST00000550411;ENST00000552562	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.22	0.498	0.16908	Chromo domain (1);Chromo domain-like (1);Chromo domain/shadow (2);	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	N	0.11845	0.185	0.54753	D	0.999989	D;B	0.56035	0.974;0.048	D;B	0.67725	0.953;0.173	T	0.60047	-0.7339	10	0.02654	T	1	-16.2533	7.6901	0.28563	0.0:0.387:0.0:0.613	.	61;61	G3V1X9;P45973	.;CBX5_HUMAN	D	61	ENSP00000209875:E61D;ENSP00000401009:E61D;ENSP00000449207:E61D;ENSP00000450190:E61D	ENSP00000209875:E61D	E	-	3	2	CBX5	52932233	0.949000	0.32298	1.000000	0.80357	0.991000	0.79684	0.069000	0.14552	0.227000	0.20999	0.655000	0.94253	GAG	CBX5	-	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow	ENSG00000094916		0.368	CBX5-004	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	CBX5	HGNC	protein_coding	OTTHUMT00000405468.1	43	0.00	0	C	NM_012117		54645966	54645966	-1	no_errors	ENST00000209875	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	0.997	G
CCDC14	64770	genome.wustl.edu	37	3	123666066	123666066	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:123666066C>G	ENST00000488653.2	-	8	1019	c.929G>C	c.(928-930)gGa>gCa	p.G310A	CCDC14_ENST00000310351.4_Missense_Mutation_p.G150A|CCDC14_ENST00000489746.1_Missense_Mutation_p.G110A|CCDC14_ENST00000485727.1_Missense_Mutation_p.G110A|CCDC14_ENST00000433542.2_Missense_Mutation_p.G269A|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	310					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACATGGAACTCCAGGACTGGT	0.418																																						dbGAP											0													91.0	92.0	92.0					3																	123666066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.929G>C	3.37:g.123666066C>G	ENSP00000420180:p.Gly310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.G310A	ENST00000488653.2	37	c.929		3	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163536	0.38217	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000434954	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.44	2.62	0.31277	.	0.627824	0.15025	N	0.284801	T	0.35828	0.0945	M	0.61703	1.905	0.09310	N	1	B;B;B	0.20887	0.033;0.033;0.049	B;B;B	0.23018	0.027;0.027;0.043	T	0.27297	-1.0078	10	0.36615	T	0.2	.	4.742	0.13017	0.1576:0.6041:0.1526:0.0858	.	310;269;110	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	A	310;150;110;110;269;291;110	ENSP00000420180:G310A;ENSP00000312031:G150A;ENSP00000418002:G110A;ENSP00000418403:G110A;ENSP00000395706:G269A;ENSP00000386866:G291A;ENSP00000387962:G110A	ENSP00000312031:G150A	G	-	2	0	CCDC14	125148756	0.001000	0.12720	0.017000	0.16124	0.941000	0.58515	0.547000	0.23299	0.782000	0.33613	0.655000	0.94253	GGA	CCDC14	-	NULL	ENSG00000175455		0.418	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		90	0.00	0	C	NM_022757		123666066	123666066	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	57	25.00	19	SNP	0.039	G
CCDC14	64770	genome.wustl.edu	37	3	123666066	123666066	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:123666066C>G	ENST00000488653.2	-	8	1019	c.929G>C	c.(928-930)gGa>gCa	p.G310A	CCDC14_ENST00000310351.4_Missense_Mutation_p.G150A|CCDC14_ENST00000489746.1_Missense_Mutation_p.G110A|CCDC14_ENST00000485727.1_Missense_Mutation_p.G110A|CCDC14_ENST00000433542.2_Missense_Mutation_p.G269A|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	310					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACATGGAACTCCAGGACTGGT	0.418																																						dbGAP											0													91.0	92.0	92.0					3																	123666066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.929G>C	3.37:g.123666066C>G	ENSP00000420180:p.Gly310Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.G310A	ENST00000488653.2	37	c.929		3	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163536	0.38217	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000434954	T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96	4.44	2.62	0.31277	.	0.627824	0.15025	N	0.284801	T	0.35828	0.0945	M	0.61703	1.905	0.09310	N	1	B;B;B	0.20887	0.033;0.033;0.049	B;B;B	0.23018	0.027;0.027;0.043	T	0.27297	-1.0078	10	0.36615	T	0.2	.	4.742	0.13017	0.1576:0.6041:0.1526:0.0858	.	310;269;110	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	A	310;150;110;110;269;291;110	ENSP00000420180:G310A;ENSP00000312031:G150A;ENSP00000418002:G110A;ENSP00000418403:G110A;ENSP00000395706:G269A;ENSP00000386866:G291A;ENSP00000387962:G110A	ENSP00000312031:G150A	G	-	2	0	CCDC14	125148756	0.001000	0.12720	0.017000	0.16124	0.941000	0.58515	0.547000	0.23299	0.782000	0.33613	0.655000	0.94253	GGA	CCDC14	-	NULL	ENSG00000175455		0.418	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		69	0.00	0	C	NM_022757		123666066	123666066	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	57	25.00	19	SNP	0.039	G
CFAP58	159686	genome.wustl.edu	37	10	106159178	106159178	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:106159178G>A	ENST00000369704.3	+	12	1869	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		579						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGAAAAGCAAGAAGCTGAAGA	0.453																																						dbGAP											0													73.0	71.0	72.0					10																	106159178		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.1735G>A	10.37:g.106159178G>A	ENSP00000358718:p.Glu579Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E579K	ENST00000369704.3	37	c.1735	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405590	0.42715	.	.	ENSG00000120051	ENST00000369704	T	0.41400	1.0	5.54	5.54	0.83059	.	0.302325	0.39985	N	0.001207	T	0.29491	0.0735	N	0.21545	0.675	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18713	-1.0328	10	0.02654	T	1	-10.8532	19.9028	0.96995	0.0:0.0:1.0:0.0	.	579	Q5T655	CC147_HUMAN	K	579	ENSP00000358718:E579K	ENSP00000358718:E579K	E	+	1	0	CCDC147	106149168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.776000	0.95493	0.650000	0.86243	GAA	CCDC147	-	NULL	ENSG00000120051		0.453	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	37	0.00	0	G			106159178	106159178	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	A
CFAP58	159686	genome.wustl.edu	37	10	106159178	106159178	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:106159178G>A	ENST00000369704.3	+	12	1869	c.1735G>A	c.(1735-1737)Gaa>Aaa	p.E579K	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		579						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGAAAAGCAAGAAGCTGAAGA	0.453																																						dbGAP											0													73.0	71.0	72.0					10																	106159178		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000369704.3:c.1735G>A	10.37:g.106159178G>A	ENSP00000358718:p.Glu579Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Missense_Mutation	SNP	superfamily_Homeodomain-like	p.E579K	ENST00000369704.3	37	c.1735	CCDS31282.1	10	.	.	.	.	.	.	.	.	.	.	G	14.00	2.405590	0.42715	.	.	ENSG00000120051	ENST00000369704	T	0.41400	1.0	5.54	5.54	0.83059	.	0.302325	0.39985	N	0.001207	T	0.29491	0.0735	N	0.21545	0.675	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18713	-1.0328	10	0.02654	T	1	-10.8532	19.9028	0.96995	0.0:0.0:1.0:0.0	.	579	Q5T655	CC147_HUMAN	K	579	ENSP00000358718:E579K	ENSP00000358718:E579K	E	+	1	0	CCDC147	106149168	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.817000	0.62650	2.776000	0.95493	0.650000	0.86243	GAA	CCDC147	-	NULL	ENSG00000120051		0.453	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	44	0.00	0	G			106159178	106159178	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	1.000	A
CCDC173	129881	genome.wustl.edu	37	2	170502493	170502493	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:170502493C>G	ENST00000447353.1	-	9	1622	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	506																	AAACACTGGTCCACGGCCACC	0.433																																						dbGAP											0													160.0	163.0	162.0					2																	170502493		1896	4111	6007	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1517G>C	2.37:g.170502493C>G	ENSP00000391504:p.Gly506Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJF6	Missense_Mutation	SNP	NULL	p.G506A	ENST00000447353.1	37	c.1517	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565559	0.86439	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.78	5.78	0.91487	.	0.203437	0.39274	N	0.001404	T	0.79112	0.4391	M	0.72894	2.215	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.79024	-0.1972	9	0.59425	D	0.04	.	17.8645	0.88792	0.0:1.0:0.0:0.0	.	506	Q0VFZ6	CB077_HUMAN	A	506	.	ENSP00000391504:G506A	G	-	2	0	C2orf77	170210739	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	5.915000	0.69973	2.894000	0.99253	0.591000	0.81541	GGA	CCDC173	-	NULL	ENSG00000154479		0.433	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	66	0.00	0	C	NM_001085447		170502493	170502493	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	G
CCDC173	129881	genome.wustl.edu	37	2	170502493	170502493	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:170502493C>G	ENST00000447353.1	-	9	1622	c.1517G>C	c.(1516-1518)gGa>gCa	p.G506A		NM_001085447.1	NP_001078916.1	Q0VFZ6	CC173_HUMAN	coiled-coil domain containing 173	506																	AAACACTGGTCCACGGCCACC	0.433																																						dbGAP											0													160.0	163.0	162.0					2																	170502493		1896	4111	6007	-	-	-	SO:0001583	missense	0			BC015980, BC117445	CCDS46445.1	2q31.1	2012-08-07	2012-08-07	2012-08-07	ENSG00000154479	ENSG00000154479			25064	protein-coding gene	gene with protein product	"""hypothetical LOC129881"""		"""chromosome 2 open reading frame 77"""	C2orf77		12477932	Standard	NM_001085447		Approved	LOC129881	uc002ufe.2	Q0VFZ6	OTTHUMG00000154116	ENST00000447353.1:c.1517G>C	2.37:g.170502493C>G	ENSP00000391504:p.Gly506Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJF6	Missense_Mutation	SNP	NULL	p.G506A	ENST00000447353.1	37	c.1517	CCDS46445.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565559	0.86439	.	.	ENSG00000154479	ENST00000447353	.	.	.	5.78	5.78	0.91487	.	0.203437	0.39274	N	0.001404	T	0.79112	0.4391	M	0.72894	2.215	0.58432	D	0.99999	D	0.89917	1.0	D	0.87578	0.998	T	0.79024	-0.1972	9	0.59425	D	0.04	.	17.8645	0.88792	0.0:1.0:0.0:0.0	.	506	Q0VFZ6	CB077_HUMAN	A	506	.	ENSP00000391504:G506A	G	-	2	0	C2orf77	170210739	0.998000	0.40836	1.000000	0.80357	0.962000	0.63368	5.915000	0.69973	2.894000	0.99253	0.591000	0.81541	GGA	CCDC173	-	NULL	ENSG00000154479		0.433	CCDC173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC173	HGNC	protein_coding	OTTHUMT00000333954.2	69	0.00	0	C	NM_001085447		170502493	170502493	-1	no_errors	ENST00000447353	ensembl	human	known	69_37n	missense	37	28.85	15	SNP	1.000	G
CCDC63	160762	genome.wustl.edu	37	12	111322027	111322027	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:111322027G>T	ENST00000308208.5	+	8	1289	c.1047G>T	c.(1045-1047)atG>atT	p.M349I	CCDC63_ENST00000545036.1_Missense_Mutation_p.M309I|CCDC63_ENST00000552694.1_Missense_Mutation_p.M270I	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	349										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACATGGAGATGATGCACAAGA	0.552																																						dbGAP											0													101.0	91.0	95.0					12																	111322027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1047G>T	12.37:g.111322027G>T	ENSP00000312399:p.Met349Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.M349I	ENST00000308208.5	37	c.1047	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238708	0.22711	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21361	2.01;2.01;2.01	5.68	-0.84	0.10755	.	0.847626	0.10786	N	0.634344	T	0.12774	0.0310	L	0.42245	1.32	0.09310	N	1	B	0.29805	0.257	B	0.24394	0.053	T	0.32929	-0.9888	10	0.18710	T	0.47	.	3.6865	0.08329	0.1442:0.3806:0.3514:0.1239	.	349	Q8NA47	CCD63_HUMAN	I	309;349;270	ENSP00000445881:M309I;ENSP00000312399:M349I;ENSP00000450217:M270I	ENSP00000312399:M349I	M	+	3	0	CCDC63	109806410	0.299000	0.24426	0.086000	0.20670	0.777000	0.43975	0.423000	0.21313	-0.463000	0.06973	-0.175000	0.13238	ATG	CCDC63	-	NULL	ENSG00000173093		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	57	0.00	0	G	NM_152591		111322027	111322027	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.245	T
CCDC63	160762	genome.wustl.edu	37	12	111322027	111322027	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:111322027G>T	ENST00000308208.5	+	8	1289	c.1047G>T	c.(1045-1047)atG>atT	p.M349I	CCDC63_ENST00000545036.1_Missense_Mutation_p.M309I|CCDC63_ENST00000552694.1_Missense_Mutation_p.M270I	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	349										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						ACATGGAGATGATGCACAAGA	0.552																																						dbGAP											0													101.0	91.0	95.0					12																	111322027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1047G>T	12.37:g.111322027G>T	ENSP00000312399:p.Met349Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	NULL	p.M349I	ENST00000308208.5	37	c.1047	CCDS9151.1	12	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238708	0.22711	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21361	2.01;2.01;2.01	5.68	-0.84	0.10755	.	0.847626	0.10786	N	0.634344	T	0.12774	0.0310	L	0.42245	1.32	0.09310	N	1	B	0.29805	0.257	B	0.24394	0.053	T	0.32929	-0.9888	10	0.18710	T	0.47	.	3.6865	0.08329	0.1442:0.3806:0.3514:0.1239	.	349	Q8NA47	CCD63_HUMAN	I	309;349;270	ENSP00000445881:M309I;ENSP00000312399:M349I;ENSP00000450217:M270I	ENSP00000312399:M349I	M	+	3	0	CCDC63	109806410	0.299000	0.24426	0.086000	0.20670	0.777000	0.43975	0.423000	0.21313	-0.463000	0.06973	-0.175000	0.13238	ATG	CCDC63	-	NULL	ENSG00000173093		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	HGNC	protein_coding	OTTHUMT00000404673.2	52	0.00	0	G	NM_152591		111322027	111322027	+1	no_errors	ENST00000308208	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	0.245	T
CCHCR1	54535	genome.wustl.edu	37	6	31110858	31110858	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:31110858C>G	ENST00000376266.5	-	17	2228	c.2106G>C	c.(2104-2106)ttG>ttC	p.L702F	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L791F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L649F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L755F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	702					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAAGAACTGTCAACAGTCGCT	0.567																																						dbGAP											0													203.0	232.0	221.0					6																	31110858		1511	2708	4219	-	-	-	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2106G>C	6.37:g.31110858C>G	ENSP00000365442:p.Leu702Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.L791F	ENST00000376266.5	37	c.2373	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790505	0.16258	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.18	2.2	0.27929	.	0.457515	0.18665	N	0.134612	T	0.05135	0.0137	L	0.55481	1.735	0.31233	N	0.696113	B;D;P;B	0.89917	0.255;1.0;0.64;0.011	B;D;P;B	0.91635	0.169;0.999;0.493;0.016	T	0.14282	-1.0478	10	0.09590	T	0.72	-8.8391	3.8794	0.09071	0.2045:0.6017:0.0:0.1938	.	688;702;755;791	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	F	791;702;649;688;755	ENSP00000379566:L791F;ENSP00000365442:L702F;ENSP00000379561:L649F;ENSP00000401039:L755F	ENSP00000365442:L702F	L	-	3	2	CCHCR1	31218837	0.868000	0.29978	0.992000	0.48379	0.324000	0.28378	0.306000	0.19279	0.764000	0.33197	0.549000	0.68633	TTG	CCHCR1	-	pfam_HCR	ENSG00000204536		0.567	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	94	0.00	0	C	NM_019052		31110858	31110858	-1	no_errors	ENST00000396268	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.996	G
CCHCR1	54535	genome.wustl.edu	37	6	31110858	31110858	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:31110858C>G	ENST00000376266.5	-	17	2228	c.2106G>C	c.(2104-2106)ttG>ttC	p.L702F	CCHCR1_ENST00000396268.3_Missense_Mutation_p.L791F|CCHCR1_ENST00000396263.2_Missense_Mutation_p.L649F|CCHCR1_ENST00000451521.2_Missense_Mutation_p.L755F	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	702					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GAAGAACTGTCAACAGTCGCT	0.567																																						dbGAP											0													203.0	232.0	221.0					6																	31110858		1511	2708	4219	-	-	-	SO:0001583	missense	0			AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.2106G>C	6.37:g.31110858C>G	ENSP00000365442:p.Leu702Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Missense_Mutation	SNP	pfam_HCR	p.L791F	ENST00000376266.5	37	c.2373	CCDS4695.1	6	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790505	0.16258	.	.	ENSG00000204536	ENST00000396268;ENST00000376266;ENST00000396263;ENST00000440185;ENST00000451521	T;T;T;T	0.04862	3.54;3.54;3.54;3.54	5.18	2.2	0.27929	.	0.457515	0.18665	N	0.134612	T	0.05135	0.0137	L	0.55481	1.735	0.31233	N	0.696113	B;D;P;B	0.89917	0.255;1.0;0.64;0.011	B;D;P;B	0.91635	0.169;0.999;0.493;0.016	T	0.14282	-1.0478	10	0.09590	T	0.72	-8.8391	3.8794	0.09071	0.2045:0.6017:0.0:0.1938	.	688;702;755;791	B4DIA2;Q8TD31;E9PE84;Q8TD31-2	.;CCHCR_HUMAN;.;.	F	791;702;649;688;755	ENSP00000379566:L791F;ENSP00000365442:L702F;ENSP00000379561:L649F;ENSP00000401039:L755F	ENSP00000365442:L702F	L	-	3	2	CCHCR1	31218837	0.868000	0.29978	0.992000	0.48379	0.324000	0.28378	0.306000	0.19279	0.764000	0.33197	0.549000	0.68633	TTG	CCHCR1	-	pfam_HCR	ENSG00000204536		0.567	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCHCR1	HGNC	protein_coding	OTTHUMT00000076190.5	71	0.00	0	C	NM_019052		31110858	31110858	-1	no_errors	ENST00000396268	ensembl	human	known	69_37n	missense	64	15.79	12	SNP	0.996	G
CCRL2	9034	genome.wustl.edu	37	3	46449777	46449777	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:46449777C>G	ENST00000399036.3	+	2	559	c.207C>G	c.(205-207)ctC>ctG	p.L69L	CCRL2_ENST00000400882.2_Silent_p.L69L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Silent_p.L81L|CCRL2_ENST00000400880.3_Silent_p.L69L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	69					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		ATAAAGGACTCAAACGCGTGG	0.483																																						dbGAP											0													83.0	85.0	84.0					3																	46449777		1958	4139	6097	-	-	-	SO:0001819	synonymous_variant	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.207C>G	3.37:g.46449777C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.L81	ENST00000399036.3	37	c.243	CCDS43079.1	3																																																																																			CCRL2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt	ENSG00000121797		0.483	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	46	0.00	0	C			46449777	46449777	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.189	G
CCRL2	9034	genome.wustl.edu	37	3	46449777	46449777	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:46449777C>G	ENST00000399036.3	+	2	559	c.207C>G	c.(205-207)ctC>ctG	p.L69L	CCRL2_ENST00000400882.2_Silent_p.L69L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Silent_p.L81L|CCRL2_ENST00000400880.3_Silent_p.L69L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	69					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		ATAAAGGACTCAAACGCGTGG	0.483																																						dbGAP											0													83.0	85.0	84.0					3																	46449777		1958	4139	6097	-	-	-	SO:0001819	synonymous_variant	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.207C>G	3.37:g.46449777C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.L81	ENST00000399036.3	37	c.243	CCDS43079.1	3																																																																																			CCRL2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt	ENSG00000121797		0.483	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	34	0.00	0	C			46449777	46449777	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	silent	27	20.59	7	SNP	0.189	G
CCRL2	9034	genome.wustl.edu	37	3	46450227	46450227	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:46450227C>G	ENST00000399036.3	+	2	1009	c.657C>G	c.(655-657)ctC>ctG	p.L219L	CCRL2_ENST00000400882.2_Silent_p.L219L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Silent_p.L231L|CCRL2_ENST00000400880.3_Silent_p.L219L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	219					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTACATTTCTCTATGTGCAAA	0.413																																						dbGAP											0													141.0	138.0	139.0					3																	46450227		1839	4084	5923	-	-	-	SO:0001819	synonymous_variant	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.657C>G	3.37:g.46450227C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.L231	ENST00000399036.3	37	c.693	CCDS43079.1	3																																																																																			CCRL2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000121797		0.413	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	58	0.00	0	C			46450227	46450227	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	silent	34	22.73	10	SNP	0.995	G
CCRL2	9034	genome.wustl.edu	37	3	46450227	46450227	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:46450227C>G	ENST00000399036.3	+	2	1009	c.657C>G	c.(655-657)ctC>ctG	p.L219L	CCRL2_ENST00000400882.2_Silent_p.L219L|RP11-24F11.2_ENST00000451485.1_RNA|CCRL2_ENST00000357392.4_Silent_p.L231L|CCRL2_ENST00000400880.3_Silent_p.L219L	NM_003965.4	NP_003956.2	O00421	CCRL2_HUMAN	chemokine (C-C motif) receptor-like 2	219					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379)			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TTACATTTCTCTATGTGCAAA	0.413																																						dbGAP											0													141.0	138.0	139.0					3																	46450227		1839	4084	5923	-	-	-	SO:0001819	synonymous_variant	0			AF014958	CCDS43079.1, CCDS46814.1	3p21	2013-07-18	2013-07-18	2013-07-18	ENSG00000121797	ENSG00000121797		"""GPCR / Class A : Chemokine receptors : Atypical"""	1612	protein-coding gene	gene with protein product	"""atypical chemokine receptor 5"""	608379				9473515	Standard	NM_001130910		Approved	HCR, CRAM-B, CKRX, CRAM-A, ACKR5	uc003cpp.4	O00421	OTTHUMG00000156318	ENST00000399036.3:c.657C>G	3.37:g.46450227C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.L231	ENST00000399036.3	37	c.693	CCDS43079.1	3																																																																																			CCRL2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000121797		0.413	CCRL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRL2	HGNC	protein_coding	OTTHUMT00000343909.2	58	0.00	0	C			46450227	46450227	+1	no_errors	ENST00000357392	ensembl	human	known	69_37n	silent	34	22.73	10	SNP	0.995	G
CD1B	910	genome.wustl.edu	37	1	158301159	158301159	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:158301159C>T	ENST00000368168.3	-	1	162	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	19					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTACCATGTTCACTGTTACCA	0.483																																						dbGAP											0													84.0	75.0	78.0					1																	158301159		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.55G>A	1.37:g.158301159C>T	ENSP00000357150:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.E19K	ENST00000368168.3	37	c.55	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	C	5.322	0.244837	0.10077	.	.	ENSG00000158485	ENST00000368168	T	0.01347	4.99	3.14	0.16	0.14972	.	0.797249	0.10251	N	0.697147	T	0.00468	0.0015	L	0.61036	1.89	0.09310	N	1	B;B	0.29531	0.247;0.011	B;B	0.26310	0.068;0.005	T	0.45833	-0.9234	10	0.10377	T	0.69	-1.5246	3.4519	0.07501	0.0:0.4251:0.2838:0.2911	.	19;19	B4E0D2;P29016	.;CD1B_HUMAN	K	19	ENSP00000357150:E19K	ENSP00000357150:E19K	E	-	1	0	CD1B	156567783	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.612000	0.05616	0.030000	0.15379	0.650000	0.86243	GAA	CD1B	-	NULL	ENSG00000158485		0.483	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	58	0.00	0	C	NM_001764		158301159	158301159	-1	no_errors	ENST00000368168	ensembl	human	known	69_37n	missense	37	26.92	14	SNP	0.003	T
CD1B	910	genome.wustl.edu	37	1	158301159	158301159	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:158301159C>T	ENST00000368168.3	-	1	162	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	19					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TTACCATGTTCACTGTTACCA	0.483																																						dbGAP											0													84.0	75.0	78.0					1																	158301159		2203	4300	6503	-	-	-	SO:0001583	missense	0			M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.55G>A	1.37:g.158301159C>T	ENSP00000357150:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.E19K	ENST00000368168.3	37	c.55	CCDS1176.1	1	.	.	.	.	.	.	.	.	.	.	C	5.322	0.244837	0.10077	.	.	ENSG00000158485	ENST00000368168	T	0.01347	4.99	3.14	0.16	0.14972	.	0.797249	0.10251	N	0.697147	T	0.00468	0.0015	L	0.61036	1.89	0.09310	N	1	B;B	0.29531	0.247;0.011	B;B	0.26310	0.068;0.005	T	0.45833	-0.9234	10	0.10377	T	0.69	-1.5246	3.4519	0.07501	0.0:0.4251:0.2838:0.2911	.	19;19	B4E0D2;P29016	.;CD1B_HUMAN	K	19	ENSP00000357150:E19K	ENSP00000357150:E19K	E	-	1	0	CD1B	156567783	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-0.612000	0.05616	0.030000	0.15379	0.650000	0.86243	GAA	CD1B	-	NULL	ENSG00000158485		0.483	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	HGNC	protein_coding	OTTHUMT00000046350.2	62	0.00	0	C	NM_001764		158301159	158301159	-1	no_errors	ENST00000368168	ensembl	human	known	69_37n	missense	37	26.92	14	SNP	0.003	T
CD200R1	131450	genome.wustl.edu	37	3	112642601	112642601	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:112642601G>C	ENST00000471858.1	-	7	1133	c.901C>G	c.(901-903)Ctc>Gtc	p.L301V	CD200R1_ENST00000308611.3_Missense_Mutation_p.L324V|CD200R1_ENST00000295863.4_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	301					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTATCATAGAGAGGATTGTTC	0.373																																						dbGAP											0													173.0	158.0	163.0					3																	112642601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.901C>G	3.37:g.112642601G>C	ENSP00000418928:p.Leu301Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.L324V	ENST00000471858.1	37	c.970	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212946	0.39102	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.20200	2.12;2.09	5.42	3.61	0.41365	.	0.260600	0.17923	U	0.157430	T	0.24890	0.0604	L	0.36672	1.1	0.80722	D	1	D;D	0.60160	0.978;0.987	P;P	0.53518	0.539;0.728	T	0.01675	-1.1298	10	0.87932	D	0	.	7.3548	0.26713	0.0909:0.1698:0.7393:0.0	.	301;324	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	V	301;324	ENSP00000418928:L301V;ENSP00000311035:L324V	ENSP00000311035:L324V	L	-	1	0	CD200R1	114125291	1.000000	0.71417	0.927000	0.36925	0.256000	0.26092	2.217000	0.42880	0.640000	0.30582	0.650000	0.86243	CTC	CD200R1	-	NULL	ENSG00000163606		0.373	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	45	0.00	0	G	NM_138806		112642601	112642601	-1	no_errors	ENST00000308611	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.967	C
CD200R1	131450	genome.wustl.edu	37	3	112642601	112642601	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:112642601G>C	ENST00000471858.1	-	7	1133	c.901C>G	c.(901-903)Ctc>Gtc	p.L301V	CD200R1_ENST00000308611.3_Missense_Mutation_p.L324V|CD200R1_ENST00000295863.4_3'UTR	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	301					regulation of immune response (GO:0050776)|viral process (GO:0016032)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GTATCATAGAGAGGATTGTTC	0.373																																						dbGAP											0													173.0	158.0	163.0					3																	112642601		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126349	CCDS2969.1, CCDS2970.1, CCDS46889.1, CCDS54623.1	3q13	2014-05-15	2004-08-31	2004-09-01	ENSG00000163606	ENSG00000163606		"""Immunoglobulin superfamily / C2-set domain containing"""	24235	protein-coding gene	gene with protein product		607546	"""MOX2 receptor"""	MOX2R		10981966, 11133863	Standard	NM_138806		Approved	OX2R, HCRTR2, CD200R	uc003dzj.1	Q8TD46	OTTHUMG00000159298	ENST00000471858.1:c.901C>G	3.37:g.112642601G>C	ENSP00000418928:p.Leu301Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWZ9|E9PCM9|Q52LJ7|Q6IS95|Q6UW94|Q6WHB8|Q8TD44|Q8TD45|Q8TD52	Missense_Mutation	SNP	pfam_CD80_C2-set,pfscan_Ig-like	p.L324V	ENST00000471858.1	37	c.970	CCDS2970.1	3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.212946	0.39102	.	.	ENSG00000163606	ENST00000471858;ENST00000308611	T;T	0.20200	2.12;2.09	5.42	3.61	0.41365	.	0.260600	0.17923	U	0.157430	T	0.24890	0.0604	L	0.36672	1.1	0.80722	D	1	D;D	0.60160	0.978;0.987	P;P	0.53518	0.539;0.728	T	0.01675	-1.1298	10	0.87932	D	0	.	7.3548	0.26713	0.0909:0.1698:0.7393:0.0	.	301;324	Q8TD46;Q8TD46-4	MO2R1_HUMAN;.	V	301;324	ENSP00000418928:L301V;ENSP00000311035:L324V	ENSP00000311035:L324V	L	-	1	0	CD200R1	114125291	1.000000	0.71417	0.927000	0.36925	0.256000	0.26092	2.217000	0.42880	0.640000	0.30582	0.650000	0.86243	CTC	CD200R1	-	NULL	ENSG00000163606		0.373	CD200R1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD200R1	HGNC	protein_coding	OTTHUMT00000354467.1	58	0.00	0	G	NM_138806		112642601	112642601	-1	no_errors	ENST00000308611	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	0.967	C
CD207	50489	genome.wustl.edu	37	2	71062733	71062733	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:71062733G>A	ENST00000410009.3	-	2	124	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	27					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GACTTGGGAGGAGGCTCTGTT	0.567																																						dbGAP											0													76.0	83.0	81.0					2																	71062733		2097	4231	6328	-	-	-	SO:0001583	missense	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.79C>T	2.37:g.71062733G>A	ENSP00000386378:p.Pro27Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P27S	ENST00000410009.3	37	c.79		2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269130	0.40095	.	.	ENSG00000116031	ENST00000410009	T	0.04119	3.7	4.87	3.99	0.46301	.	0.263398	0.27415	N	0.019464	T	0.03651	0.0104	L	0.32530	0.975	0.35851	D	0.82678	B	0.32031	0.352	B	0.29440	0.102	T	0.39333	-0.9619	10	0.09843	T	0.71	.	9.5846	0.39508	0.0996:0.0:0.9004:0.0	.	27	Q9UJ71	CLC4K_HUMAN	S	27	ENSP00000386378:P27S	ENSP00000386378:P27S	P	-	1	0	CD207	70916241	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.984000	0.29565	1.362000	0.46000	0.655000	0.94253	CCT	CD207	-	NULL	ENSG00000116031		0.567	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	60	0.00	0	G	NM_015717		71062733	71062733	-1	no_errors	ENST00000410009	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	A
CD207	50489	genome.wustl.edu	37	2	71062733	71062733	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:71062733G>A	ENST00000410009.3	-	2	124	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	27					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GACTTGGGAGGAGGCTCTGTT	0.567																																						dbGAP											0													76.0	83.0	81.0					2																	71062733		2097	4231	6328	-	-	-	SO:0001583	missense	0			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.79C>T	2.37:g.71062733G>A	ENSP00000386378:p.Pro27Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.P27S	ENST00000410009.3	37	c.79		2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.269130	0.40095	.	.	ENSG00000116031	ENST00000410009	T	0.04119	3.7	4.87	3.99	0.46301	.	0.263398	0.27415	N	0.019464	T	0.03651	0.0104	L	0.32530	0.975	0.35851	D	0.82678	B	0.32031	0.352	B	0.29440	0.102	T	0.39333	-0.9619	10	0.09843	T	0.71	.	9.5846	0.39508	0.0996:0.0:0.9004:0.0	.	27	Q9UJ71	CLC4K_HUMAN	S	27	ENSP00000386378:P27S	ENSP00000386378:P27S	P	-	1	0	CD207	70916241	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	0.984000	0.29565	1.362000	0.46000	0.655000	0.94253	CCT	CD207	-	NULL	ENSG00000116031		0.567	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	CD207	HGNC	protein_coding	OTTHUMT00000329959.4	80	0.00	0	G	NM_015717		71062733	71062733	-1	no_errors	ENST00000410009	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	A
CD47	961	genome.wustl.edu	37	3	107765161	107765161	+	IGR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:107765161C>T	ENST00000361309.5	-	0	1285				CD47_ENST00000355354.7_3'UTR|CD47_ENST00000471694.1_5'UTR	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			AAATTTCAATCTTGCTTTTTT	0.403																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216		3.37:g.107765161C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	RNA	SNP	-	NULL	ENST00000361309.5	37	NULL	CCDS43126.1	3																																																																																			CD47	-	-	ENSG00000196776		0.403	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	58	0.00	0	C	NM_001777		107765161	107765161	-1	no_errors	ENST00000471694	ensembl	human	known	69_37n	rna	29	25.64	10	SNP	1.000	T
CD47	961	genome.wustl.edu	37	3	107765161	107765161	+	IGR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:107765161C>T	ENST00000361309.5	-	0	1285				CD47_ENST00000355354.7_3'UTR|CD47_ENST00000471694.1_5'UTR	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			AAATTTCAATCTTGCTTTTTT	0.403																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216		3.37:g.107765161C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K198|D3DN59|Q53Y71|Q96A60	RNA	SNP	-	NULL	ENST00000361309.5	37	NULL	CCDS43126.1	3																																																																																			CD47	-	-	ENSG00000196776		0.403	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	HGNC	protein_coding	OTTHUMT00000102793.1	65	0.00	0	C	NM_001777		107765161	107765161	-1	no_errors	ENST00000471694	ensembl	human	known	69_37n	rna	29	25.64	10	SNP	1.000	T
CDC25C	995	genome.wustl.edu	37	5	137622292	137622292	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:137622292C>G	ENST00000323760.6	-	12	1332	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	CDC25C_ENST00000356505.3_Missense_Mutation_p.E322Q|CDC25C_ENST00000514555.1_Missense_Mutation_p.E322Q|CDC25C_ENST00000513970.1_Missense_Mutation_p.E352Q|CDC25C_ENST00000357274.3_Missense_Mutation_p.E309Q|CDC25C_ENST00000415130.2_Missense_Mutation_p.E279Q|CDC25C_ENST00000348983.3_Missense_Mutation_p.E279Q	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	352	HIV-1 Vpr binding site.|Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTAAACAGTTCTTCCTGACTA	0.423																																						dbGAP											0													64.0	66.0	65.0					5																	137622292		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1054G>C	5.37:g.137622292C>G	ENSP00000321656:p.Glu352Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E352Q	ENST00000323760.6	37	c.1054	CCDS4202.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.104819|3.104819	0.56291|0.56291	.|.	.|.	ENSG00000158402|ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555|ENST00000514017	T;T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58;1.58|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Rhodanese-like (5);|.	0.135758|.	0.48767|.	D|.	0.000165|.	T|T	0.54743|0.54743	0.1877|0.1877	N|N	0.25031|0.25031	0.7|0.7	0.44136|0.44136	D|D	0.996925|0.996925	D;D;P;D|.	0.60160|.	0.984;0.975;0.728;0.987|.	P;P;B;P|.	0.54924|.	0.652;0.722;0.152;0.764|.	T|T	0.47355|0.47355	-0.9124|-0.9124	10|5	0.46703|.	T|.	0.11|.	-19.9437|-19.9437	18.0367|18.0367	0.89305|0.89305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	369;322;279;352|.	G3V1P6;P30307-2;P30307-4;P30307|.	.;.;.;MPIP3_HUMAN|.	Q|T	352;322;309;279;279;352;369;322|153	ENSP00000321656:E352Q;ENSP00000348898:E322Q;ENSP00000349821:E309Q;ENSP00000345205:E279Q;ENSP00000392631:E279Q;ENSP00000424795:E352Q;ENSP00000425470:E322Q|.	ENSP00000321656:E352Q|.	E|R	-|-	1|2	0|0	CDC25C|CDC25C	137650191|137650191	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.921000|0.921000	0.55340|0.55340	4.087000|4.087000	0.57671|0.57671	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CDC25C	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000158402		0.423	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	43	0.00	0	C			137622292	137622292	-1	no_errors	ENST00000323760	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	G
CDC25C	995	genome.wustl.edu	37	5	137622292	137622292	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:137622292C>G	ENST00000323760.6	-	12	1332	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	CDC25C_ENST00000356505.3_Missense_Mutation_p.E322Q|CDC25C_ENST00000514555.1_Missense_Mutation_p.E322Q|CDC25C_ENST00000513970.1_Missense_Mutation_p.E352Q|CDC25C_ENST00000357274.3_Missense_Mutation_p.E309Q|CDC25C_ENST00000415130.2_Missense_Mutation_p.E279Q|CDC25C_ENST00000348983.3_Missense_Mutation_p.E279Q	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	352	HIV-1 Vpr binding site.|Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TTAAACAGTTCTTCCTGACTA	0.423																																						dbGAP											0													64.0	66.0	65.0					5																	137622292		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1054G>C	5.37:g.137622292C>G	ENSP00000321656:p.Glu352Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Missense_Mutation	SNP	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.E352Q	ENST00000323760.6	37	c.1054	CCDS4202.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.104819|3.104819	0.56291|0.56291	.|.	.|.	ENSG00000158402|ENSG00000158402	ENST00000323760;ENST00000356505;ENST00000357274;ENST00000348983;ENST00000415130;ENST00000513970;ENST00000534892;ENST00000514555|ENST00000514017	T;T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58;1.58|.	5.2|5.2	5.2|5.2	0.72013|0.72013	Rhodanese-like (5);|.	0.135758|.	0.48767|.	D|.	0.000165|.	T|T	0.54743|0.54743	0.1877|0.1877	N|N	0.25031|0.25031	0.7|0.7	0.44136|0.44136	D|D	0.996925|0.996925	D;D;P;D|.	0.60160|.	0.984;0.975;0.728;0.987|.	P;P;B;P|.	0.54924|.	0.652;0.722;0.152;0.764|.	T|T	0.47355|0.47355	-0.9124|-0.9124	10|5	0.46703|.	T|.	0.11|.	-19.9437|-19.9437	18.0367|18.0367	0.89305|0.89305	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	369;322;279;352|.	G3V1P6;P30307-2;P30307-4;P30307|.	.;.;.;MPIP3_HUMAN|.	Q|T	352;322;309;279;279;352;369;322|153	ENSP00000321656:E352Q;ENSP00000348898:E322Q;ENSP00000349821:E309Q;ENSP00000345205:E279Q;ENSP00000392631:E279Q;ENSP00000424795:E352Q;ENSP00000425470:E322Q|.	ENSP00000321656:E352Q|.	E|R	-|-	1|2	0|0	CDC25C|CDC25C	137650191|137650191	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.921000|0.921000	0.55340|0.55340	4.087000|4.087000	0.57671|0.57671	2.854000|2.854000	0.98071|0.98071	0.655000|0.655000	0.94253|0.94253	GAA|AGA	CDC25C	-	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	ENSG00000158402		0.423	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25C	HGNC	protein_coding	OTTHUMT00000251280.1	35	0.00	0	C			137622292	137622292	-1	no_errors	ENST00000323760	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	G
CDC42EP1	11135	genome.wustl.edu	37	22	37962796	37962796	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:37962796C>G	ENST00000249014.4	+	2	860	c.440C>G	c.(439-441)tCc>tGc	p.S147C		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	147					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCACCAGCTCCACGGACGGC	0.642																																						dbGAP											0													48.0	50.0	49.0					22																	37962796		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.440C>G	22.37:g.37962796C>G	ENSP00000249014:p.Ser147Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S147C	ENST00000249014.4	37	c.440	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500935	0.44455	.	.	ENSG00000128283	ENST00000249014	T	0.32023	1.47	5.75	4.73	0.59995	.	0.556430	0.17955	N	0.156367	T	0.40372	0.1114	M	0.76574	2.34	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.33777	-0.9855	10	0.38643	T	0.18	-21.9912	8.2164	0.31514	0.0:0.8154:0.0:0.1846	.	147	Q00587	BORG5_HUMAN	C	147	ENSP00000249014:S147C	ENSP00000249014:S147C	S	+	2	0	CDC42EP1	36292742	0.028000	0.19301	0.013000	0.15412	0.008000	0.06430	2.658000	0.46733	1.433000	0.47394	0.655000	0.94253	TCC	CDC42EP1	-	NULL	ENSG00000128283		0.642	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	69	0.00	0	C	NM_152243		37962796	37962796	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.011	G
CDC42EP1	11135	genome.wustl.edu	37	22	37962796	37962796	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:37962796C>G	ENST00000249014.4	+	2	860	c.440C>G	c.(439-441)tCc>tGc	p.S147C		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	147					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCACCAGCTCCACGGACGGC	0.642																																						dbGAP											0													48.0	50.0	49.0					22																	37962796		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.440C>G	22.37:g.37962796C>G	ENSP00000249014:p.Ser147Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K825|Q96GN1	Missense_Mutation	SNP	pfam_PAK_box_Rho-bd,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd	p.S147C	ENST00000249014.4	37	c.440	CCDS13949.1	22	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500935	0.44455	.	.	ENSG00000128283	ENST00000249014	T	0.32023	1.47	5.75	4.73	0.59995	.	0.556430	0.17955	N	0.156367	T	0.40372	0.1114	M	0.76574	2.34	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.33777	-0.9855	10	0.38643	T	0.18	-21.9912	8.2164	0.31514	0.0:0.8154:0.0:0.1846	.	147	Q00587	BORG5_HUMAN	C	147	ENSP00000249014:S147C	ENSP00000249014:S147C	S	+	2	0	CDC42EP1	36292742	0.028000	0.19301	0.013000	0.15412	0.008000	0.06430	2.658000	0.46733	1.433000	0.47394	0.655000	0.94253	TCC	CDC42EP1	-	NULL	ENSG00000128283		0.642	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42EP1	HGNC	protein_coding	OTTHUMT00000318993.1	50	0.00	0	C	NM_152243		37962796	37962796	+1	no_errors	ENST00000249014	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	0.011	G
CDH1	999	genome.wustl.edu	37	16	68862100	68862103	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:68862100_68862103delTTTC	ENST00000261769.5	+	14	2379_2382	c.2188_2191delTTTC	c.(2188-2193)tttcttfs	p.FL730fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.FL669fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	730					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCTCTTGCTGTTTCTTCGGAGGAG	0.525			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2188_2191delTTTC	16.37:g.68862100_68862103delTTTC	ENSP00000261769:p.Phe730fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L731fs	ENST00000261769.5	37	c.2188_2191	CCDS10869.1	16																																																																																			CDH1	-	NULL	ENSG00000039068		0.525	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	121	0.00	0	TTTC	NM_004360		68862100	68862103	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	58	19.44	14	DEL	0.135:0.140:0.115:0.037	-
CDH1	999	genome.wustl.edu	37	16	68862100	68862103	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:68862100_68862103delTTTC	ENST00000261769.5	+	14	2379_2382	c.2188_2191delTTTC	c.(2188-2193)tttcttfs	p.FL730fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.FL669fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	730					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCTCTTGCTGTTTCTTCGGAGGAG	0.525			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.2188_2191delTTTC	16.37:g.68862100_68862103delTTTC	ENSP00000261769:p.Phe730fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L731fs	ENST00000261769.5	37	c.2188_2191	CCDS10869.1	16																																																																																			CDH1	-	NULL	ENSG00000039068		0.525	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	156	0.00	0	TTTC	NM_004360		68862100	68862103	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	58	19.44	14	DEL	0.135:0.140:0.115:0.037	-
CDH20	28316	genome.wustl.edu	37	18	59217294	59217294	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:59217294G>A	ENST00000262717.4	+	11	2130	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	CDH20_ENST00000538374.1_Missense_Mutation_p.D578N|CDH20_ENST00000536675.2_Missense_Mutation_p.D578N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	578	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCTGATAGCAGATAGCGGGCA	0.572																																						dbGAP											0													52.0	46.0	48.0					18																	59217294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1732G>A	18.37:g.59217294G>A	ENSP00000262717:p.Asp578Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D578N	ENST00000262717.4	37	c.1732	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.695957	0.96802	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.65364	-0.15;-0.15;-0.15	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90020	0.4127	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	578	Q9HBT6	CAD20_HUMAN	N	578	ENSP00000444767:D578N;ENSP00000442226:D578N;ENSP00000262717:D578N	ENSP00000262717:D578N	D	+	1	0	CDH20	57368274	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.572	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	44	0.00	0	G	NM_031891		59217294	59217294	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
CDH20	28316	genome.wustl.edu	37	18	59217294	59217294	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:59217294G>A	ENST00000262717.4	+	11	2130	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N	CDH20_ENST00000538374.1_Missense_Mutation_p.D578N|CDH20_ENST00000536675.2_Missense_Mutation_p.D578N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	578	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CCTGATAGCAGATAGCGGGCA	0.572																																						dbGAP											0													52.0	46.0	48.0					18																	59217294		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1732G>A	18.37:g.59217294G>A	ENSP00000262717:p.Asp578Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495S3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D578N	ENST00000262717.4	37	c.1732	CCDS11977.1	18	.	.	.	.	.	.	.	.	.	.	G	36	5.695957	0.96802	.	.	ENSG00000101542	ENST00000536675;ENST00000538374;ENST00000262717	T;T;T	0.65364	-0.15;-0.15;-0.15	5.93	5.93	0.95920	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.86932	0.6052	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.90020	0.4127	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	578	Q9HBT6	CAD20_HUMAN	N	578	ENSP00000444767:D578N;ENSP00000442226:D578N;ENSP00000262717:D578N	ENSP00000262717:D578N	D	+	1	0	CDH20	57368274	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT	CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000101542		0.572	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2	43	0.00	0	G	NM_031891		59217294	59217294	+1	no_errors	ENST00000262717	ensembl	human	known	69_37n	missense	20	23.08	6	SNP	1.000	A
CDK6	1021	genome.wustl.edu	37	7	92244466	92244466	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:92244466C>T	ENST00000265734.4	-	8	1380	c.969G>A	c.(967-969)ctG>ctA	p.L323L	CDK6_ENST00000424848.2_Silent_p.L323L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	323					astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L323L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGGCTGTATTCAGCTCCGAGG	0.587			T	MLLT10	ALL																																	dbGAP		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	1	Substitution - coding silent(1)	lung(1)											75.0	67.0	70.0					7																	92244466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.969G>A	7.37:g.92244466C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G0	Silent	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	p.L323	ENST00000265734.4	37	c.969	CCDS5628.1	7																																																																																			CDK6	-	superfamily_Kinase-like_dom	ENSG00000105810		0.587	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	67	0.00	0	C			92244466	92244466	-1	no_errors	ENST00000265734	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	T
CDK6	1021	genome.wustl.edu	37	7	92244466	92244466	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:92244466C>T	ENST00000265734.4	-	8	1380	c.969G>A	c.(967-969)ctG>ctA	p.L323L	CDK6_ENST00000424848.2_Silent_p.L323L	NM_001259.6	NP_001250.1	Q00534	CDK6_HUMAN	cyclin-dependent kinase 6	323					astrocyte development (GO:0014002)|cell cycle arrest (GO:0007050)|cell dedifferentiation (GO:0043697)|cell division (GO:0051301)|dentate gyrus development (GO:0021542)|G1/S transition of mitotic cell cycle (GO:0000082)|generation of neurons (GO:0048699)|gliogenesis (GO:0042063)|hematopoietic stem cell differentiation (GO:0060218)|lateral ventricle development (GO:0021670)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular senescence (GO:2000773)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of osteoblast differentiation (GO:0045668)|Notch signaling pathway (GO:0007219)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of erythrocyte differentiation (GO:0045646)|regulation of gene expression (GO:0010468)|response to virus (GO:0009615)|T cell differentiation in thymus (GO:0033077)|type B pancreatic cell development (GO:0003323)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.L323L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGGCTGTATTCAGCTCCGAGG	0.587			T	MLLT10	ALL																																	dbGAP		Dom	yes		7	7q21-q22	1021	cyclin-dependent kinase 6		L	1	Substitution - coding silent(1)	lung(1)											75.0	67.0	70.0					7																	92244466		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5628.1	7q21-q22	2011-11-08			ENSG00000105810	ENSG00000105810		"""Cyclin-dependent kinases"""	1777	protein-coding gene	gene with protein product		603368				1639063	Standard	NM_001259		Approved	PLSTIRE	uc010lez.3	Q00534	OTTHUMG00000131697	ENST00000265734.4:c.969G>A	7.37:g.92244466C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G0	Silent	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	p.L323	ENST00000265734.4	37	c.969	CCDS5628.1	7																																																																																			CDK6	-	superfamily_Kinase-like_dom	ENSG00000105810		0.587	CDK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK6	HGNC	protein_coding	OTTHUMT00000254605.2	67	0.00	0	C			92244466	92244466	-1	no_errors	ENST00000265734	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	1.000	T
CEP152	22995	genome.wustl.edu	37	15	49030630	49030630	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:49030630C>T	ENST00000380950.2	-	27	5136	c.4949G>A	c.(4948-4950)gGa>gAa	p.G1650E	CEP152_ENST00000399334.3_Missense_Mutation_p.G1594E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1650					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACTGATCTTTCCTGGCTCCAA	0.383																																						dbGAP											0													205.0	196.0	199.0					15																	49030630		2000	4175	6175	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4949G>A	15.37:g.49030630C>T	ENSP00000370337:p.Gly1650Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.G1650E	ENST00000380950.2	37	c.4949	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077452	0.20227	.	.	ENSG00000103995	ENST00000399334	T	0.75938	-0.98	4.91	0.206	0.15208	.	0.486738	0.17267	N	0.180553	T	0.55641	0.1933	N	0.19112	0.55	0.32258	N	0.570474	B	0.17465	0.022	B	0.17433	0.018	T	0.53620	-0.8413	10	0.41790	T	0.15	-5.0352	8.5776	0.33607	0.0:0.4621:0.0:0.5379	.	1594	O94986	CE152_HUMAN	E	1594	ENSP00000382271:G1594E	ENSP00000382271:G1594E	G	-	2	0	CEP152	46817922	0.001000	0.12720	0.004000	0.12327	0.020000	0.10135	0.292000	0.19011	0.184000	0.20083	0.563000	0.77884	GGA	CEP152	-	NULL	ENSG00000103995		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	109	0.00	0	C	NM_014985		49030630	49030630	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	0.012	T
CEP152	22995	genome.wustl.edu	37	15	49030630	49030630	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:49030630C>T	ENST00000380950.2	-	27	5136	c.4949G>A	c.(4948-4950)gGa>gAa	p.G1650E	CEP152_ENST00000399334.3_Missense_Mutation_p.G1594E	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1650					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ACTGATCTTTCCTGGCTCCAA	0.383																																						dbGAP											0													205.0	196.0	199.0					15																	49030630		2000	4175	6175	-	-	-	SO:0001583	missense	0			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4949G>A	15.37:g.49030630C>T	ENSP00000370337:p.Gly1650Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.G1650E	ENST00000380950.2	37	c.4949	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	C	9.399	1.077452	0.20227	.	.	ENSG00000103995	ENST00000399334	T	0.75938	-0.98	4.91	0.206	0.15208	.	0.486738	0.17267	N	0.180553	T	0.55641	0.1933	N	0.19112	0.55	0.32258	N	0.570474	B	0.17465	0.022	B	0.17433	0.018	T	0.53620	-0.8413	10	0.41790	T	0.15	-5.0352	8.5776	0.33607	0.0:0.4621:0.0:0.5379	.	1594	O94986	CE152_HUMAN	E	1594	ENSP00000382271:G1594E	ENSP00000382271:G1594E	G	-	2	0	CEP152	46817922	0.001000	0.12720	0.004000	0.12327	0.020000	0.10135	0.292000	0.19011	0.184000	0.20083	0.563000	0.77884	GGA	CEP152	-	NULL	ENSG00000103995		0.383	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	71	0.00	0	C	NM_014985		49030630	49030630	-1	no_errors	ENST00000380950	ensembl	human	known	69_37n	missense	53	23.19	16	SNP	0.012	T
CEP170	9859	genome.wustl.edu	37	1	243327808	243327808	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:243327808G>C	ENST00000366542.1	-	13	3505	c.3454C>G	c.(3454-3456)Cag>Gag	p.Q1152E	CEP170_ENST00000366544.1_Missense_Mutation_p.Q1054E|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.Q1054E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1152	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTACGAGGCTGAGCCAATAAA	0.468																																						dbGAP											0													19.0	18.0	18.0					1																	243327808		1809	4041	5850	-	-	-	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3454C>G	1.37:g.243327808G>C	ENSP00000355500:p.Gln1152Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.Q1152E	ENST00000366542.1	37	c.3454	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980309	0.53827	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	T;T;T	0.50001	0.87;0.85;0.76	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	L	0.57536	1.79	0.80722	D	1	D;P;P;D	0.60575	0.988;0.917;0.917;0.975	D;P;P;D	0.75020	0.985;0.878;0.878;0.953	T	0.56950	-0.7894	10	0.02654	T	1	-7.5896	16.758	0.85505	0.0:0.0:1.0:0.0	.	1115;1054;1054;1152	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	E	1152;1054;1054;113	ENSP00000355500:Q1152E;ENSP00000355502:Q1054E;ENSP00000355501:Q1054E	ENSP00000355500:Q1152E	Q	-	1	0	CEP170	241394431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.103000	0.94232	2.237000	0.73441	0.555000	0.69702	CAG	CEP170	-	NULL	ENSG00000143702		0.468	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	53	0.00	0	G	NM_014812		243327808	243327808	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	1.000	C
CEP170	9859	genome.wustl.edu	37	1	243327808	243327808	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:243327808G>C	ENST00000366542.1	-	13	3505	c.3454C>G	c.(3454-3456)Cag>Gag	p.Q1152E	CEP170_ENST00000366544.1_Missense_Mutation_p.Q1054E|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.Q1054E	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1152	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CTACGAGGCTGAGCCAATAAA	0.468																																						dbGAP											0													19.0	18.0	18.0					1																	243327808		1809	4041	5850	-	-	-	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3454C>G	1.37:g.243327808G>C	ENSP00000355500:p.Gln1152Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.Q1152E	ENST00000366542.1	37	c.3454	CCDS44339.1	1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980309	0.53827	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	T;T;T	0.50001	0.87;0.85;0.76	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.59742	0.2216	L	0.57536	1.79	0.80722	D	1	D;P;P;D	0.60575	0.988;0.917;0.917;0.975	D;P;P;D	0.75020	0.985;0.878;0.878;0.953	T	0.56950	-0.7894	10	0.02654	T	1	-7.5896	16.758	0.85505	0.0:0.0:1.0:0.0	.	1115;1054;1054;1152	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.;.;.;CE170_HUMAN	E	1152;1054;1054;113	ENSP00000355500:Q1152E;ENSP00000355502:Q1054E;ENSP00000355501:Q1054E	ENSP00000355500:Q1152E	Q	-	1	0	CEP170	241394431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.103000	0.94232	2.237000	0.73441	0.555000	0.69702	CAG	CEP170	-	NULL	ENSG00000143702		0.468	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	53	0.00	0	G	NM_014812		243327808	243327808	-1	no_errors	ENST00000366542	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	1.000	C
CEP57	9702	genome.wustl.edu	37	11	95561159	95561159	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:95561159G>A	ENST00000325542.5	+	9	1333	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	CEP57_ENST00000537677.1_Silent_p.Q338Q|CEP57_ENST00000541150.1_Silent_p.Q356Q|CEP57_ENST00000325486.5_Silent_p.Q339Q	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	365	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGTCTTACAGACTTTACAGG	0.358									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0													87.0	91.0	90.0					11																	95561159		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1095G>A	11.37:g.95561159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.D155N	ENST00000325542.5	37	c.463	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	G	0.880	-0.729188	0.03135	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.71762	0.3378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69386	-0.5159	4	.	.	.	-3.0999	15.5632	0.76266	0.0:0.1372:0.8627:0.0	.	.	.	.	N	155	.	.	D	+	1	0	CEP57	95200807	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	3.125000	0.50469	2.753000	0.94483	0.467000	0.42956	GAC	CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.358	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	67	0.00	0	G	NM_014679		95561159	95561159	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535224	ensembl	human	novel	69_37n	missense	37	17.78	8	SNP	1.000	A
CEP57	9702	genome.wustl.edu	37	11	95561159	95561159	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:95561159G>A	ENST00000325542.5	+	9	1333	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	CEP57_ENST00000537677.1_Silent_p.Q338Q|CEP57_ENST00000541150.1_Silent_p.Q356Q|CEP57_ENST00000325486.5_Silent_p.Q339Q	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	365	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAGTCTTACAGACTTTACAGG	0.358									Mosaic Variegated Aneuploidy Syndrome																													dbGAP											0													87.0	91.0	90.0					11																	95561159		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1095G>A	11.37:g.95561159G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	pfam_Cep57_MT-bd_dom	p.D155N	ENST00000325542.5	37	c.463	CCDS8304.1	11	.	.	.	.	.	.	.	.	.	.	G	0.880	-0.729188	0.03135	.	.	ENSG00000166037	ENST00000535224	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	T	0.71762	0.3378	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69386	-0.5159	4	.	.	.	-3.0999	15.5632	0.76266	0.0:0.1372:0.8627:0.0	.	.	.	.	N	155	.	.	D	+	1	0	CEP57	95200807	1.000000	0.71417	1.000000	0.80357	0.293000	0.27360	3.125000	0.50469	2.753000	0.94483	0.467000	0.42956	GAC	CEP57	-	pfam_Cep57_MT-bd_dom	ENSG00000166037		0.358	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP57	HGNC	protein_coding	OTTHUMT00000395983.1	69	0.00	0	G	NM_014679		95561159	95561159	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000535224	ensembl	human	novel	69_37n	missense	37	17.78	8	SNP	1.000	A
CHCHD3	54927	genome.wustl.edu	37	7	132481277	132481277	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:132481277C>G	ENST00000262570.5	-	7	730	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.E201Q	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	196	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TGGGTGTTCTCACGGTAACAC	0.527																																						dbGAP											0													147.0	121.0	130.0					7																	132481277		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.586G>C	7.37:g.132481277C>G	ENSP00000262570:p.Glu196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF737	p.E196Q	ENST00000262570.5	37	c.586	CCDS5828.1	7	.	.	.	.	.	.	.	.	.	.	C	3.175	-0.169118	0.06461	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.49139	0.79;0.81	5.81	1.72	0.24424	.	0.309648	0.39834	N	0.001245	T	0.22820	0.0551	N	0.03304	-0.355	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.16722	0.001;0.016	T	0.04294	-1.0962	10	0.18276	T	0.48	-7.5765	12.9418	0.58350	0.0651:0.4393:0.4956:0.0	.	201;196	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	Q	196;201	ENSP00000262570:E196Q;ENSP00000389297:E201Q	ENSP00000262570:E196Q	E	-	1	0	CHCHD3	132131817	0.996000	0.38824	0.996000	0.52242	0.044000	0.14063	2.394000	0.44450	0.768000	0.33290	-0.171000	0.13296	GAG	CHCHD3	-	NULL	ENSG00000106554		0.527	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHCHD3	HGNC	protein_coding	OTTHUMT00000338899.1	54	0.00	0	C	NM_017812		132481277	132481277	-1	no_errors	ENST00000262570	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.937	G
CHCHD3	54927	genome.wustl.edu	37	7	132481277	132481277	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:132481277C>G	ENST00000262570.5	-	7	730	c.586G>C	c.(586-588)Gag>Cag	p.E196Q	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.E201Q	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	196	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TGGGTGTTCTCACGGTAACAC	0.527																																						dbGAP											0													147.0	121.0	130.0					7																	132481277		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.586G>C	7.37:g.132481277C>G	ENSP00000262570:p.Glu196Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF737	p.E196Q	ENST00000262570.5	37	c.586	CCDS5828.1	7	.	.	.	.	.	.	.	.	.	.	C	3.175	-0.169118	0.06461	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	T;T	0.49139	0.79;0.81	5.81	1.72	0.24424	.	0.309648	0.39834	N	0.001245	T	0.22820	0.0551	N	0.03304	-0.355	0.80722	D	1	B;B	0.10296	0.0;0.003	B;B	0.16722	0.001;0.016	T	0.04294	-1.0962	10	0.18276	T	0.48	-7.5765	12.9418	0.58350	0.0651:0.4393:0.4956:0.0	.	201;196	C9JRZ6;Q9NX63	.;CHCH3_HUMAN	Q	196;201	ENSP00000262570:E196Q;ENSP00000389297:E201Q	ENSP00000262570:E196Q	E	-	1	0	CHCHD3	132131817	0.996000	0.38824	0.996000	0.52242	0.044000	0.14063	2.394000	0.44450	0.768000	0.33290	-0.171000	0.13296	GAG	CHCHD3	-	NULL	ENSG00000106554		0.527	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHCHD3	HGNC	protein_coding	OTTHUMT00000338899.1	41	0.00	0	C	NM_017812		132481277	132481277	-1	no_errors	ENST00000262570	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.937	G
CHD1	1105	genome.wustl.edu	37	5	98229240	98229240	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:98229240G>C	ENST00000284049.3	-	13	2020	c.1871C>G	c.(1870-1872)tCc>tGc	p.S624C		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	624	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATACAGAAGGGAGTCATCATT	0.358																																						dbGAP											0													96.0	108.0	104.0					5																	98229240		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.1871C>G	5.37:g.98229240G>C	ENSP00000284049:p.Ser624Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.S624C	ENST00000284049.3	37	c.1871	CCDS34204.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194158	0.78902	.	.	ENSG00000153922	ENST00000284049	D	0.94537	-3.45	5.54	5.54	0.83059	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.33650	U	0.004687	D	0.97198	0.9084	M	0.74389	2.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97544	1.0088	10	0.87932	D	0	.	19.4966	0.95075	0.0:0.0:1.0:0.0	.	624	O14646	CHD1_HUMAN	C	624	ENSP00000284049:S624C	ENSP00000284049:S624C	S	-	2	0	CHD1	98257140	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	9.835000	0.99442	2.616000	0.88540	0.650000	0.86243	TCC	CHD1	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000153922		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	49	0.00	0	G	NM_001270		98229240	98229240	-1	no_errors	ENST00000284049	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	C
CHMP2A	27243	genome.wustl.edu	37	19	59063456	59063456	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:59063456C>T	ENST00000600118.1	-	3	870	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CHMP2A_ENST00000601220.1_Missense_Mutation_p.D149N|CHMP2A_ENST00000312547.2_Missense_Mutation_p.D149N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	149	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCATGGCATCATCAATGGCA	0.522																																						dbGAP											0													416.0	317.0	351.0					19																	59063456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.445G>A	19.37:g.59063456C>T	ENSP00000469240:p.Asp149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	pfam_Snf7	p.D149N	ENST00000600118.1	37	c.445	CCDS12986.1	19	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729483	0.69074	.	.	ENSG00000130724	ENST00000312547	T	0.73258	-0.73	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.83118	2.625	0.80722	D	1	D	0.56521	0.976	P	0.57283	0.817	T	0.82246	-0.0552	10	0.39692	T	0.17	.	15.6104	0.76713	0.0:1.0:0.0:0.0	.	149	O43633	CHM2A_HUMAN	N	149	ENSP00000310440:D149N	ENSP00000310440:D149N	D	-	1	0	CHMP2A	63755268	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.838000	0.75359	2.639000	0.89480	0.650000	0.86243	GAT	CHMP2A	-	pfam_Snf7	ENSG00000130724		0.522	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHMP2A	HGNC	protein_coding	OTTHUMT00000467088.1	93	0.00	0	C	NM_014453		59063456	59063456	-1	no_errors	ENST00000312547	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	T
CHMP2A	27243	genome.wustl.edu	37	19	59063456	59063456	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:59063456C>T	ENST00000600118.1	-	3	870	c.445G>A	c.(445-447)Gat>Aat	p.D149N	CHMP2A_ENST00000601220.1_Missense_Mutation_p.D149N|CHMP2A_ENST00000312547.2_Missense_Mutation_p.D149N			O43633	CHM2A_HUMAN	charged multivesicular body protein 2A	149	Interaction with VPS4B.				endosomal transport (GO:0016197)|establishment of protein localization (GO:0045184)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein domain specific binding (GO:0019904)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CCCATGGCATCATCAATGGCA	0.522																																						dbGAP											0													416.0	317.0	351.0					19																	59063456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF042384	CCDS12986.1	19q13.43	2014-09-04	2011-09-21		ENSG00000130724	ENSG00000130724		"""Charged multivesicular body proteins"""	30216	protein-coding gene	gene with protein product	"""putative breast adenocarcinoma marker (32kD)"", ""VPS2 homolog A (S. cerevisiae)"""	610893	"""chromatin modifying protein 2A"""			15173323, 11559748	Standard	XM_005258746		Approved	BC-2, CHMP2, VPS2, VPS2A	uc002qtk.3	O43633	OTTHUMG00000183547	ENST00000600118.1:c.445G>A	19.37:g.59063456C>T	ENSP00000469240:p.Asp149Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4W6|Q3ZTT0	Missense_Mutation	SNP	pfam_Snf7	p.D149N	ENST00000600118.1	37	c.445	CCDS12986.1	19	.	.	.	.	.	.	.	.	.	.	C	18.94	3.729483	0.69074	.	.	ENSG00000130724	ENST00000312547	T	0.73258	-0.73	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.81781	0.4895	M	0.83118	2.625	0.80722	D	1	D	0.56521	0.976	P	0.57283	0.817	T	0.82246	-0.0552	10	0.39692	T	0.17	.	15.6104	0.76713	0.0:1.0:0.0:0.0	.	149	O43633	CHM2A_HUMAN	N	149	ENSP00000310440:D149N	ENSP00000310440:D149N	D	-	1	0	CHMP2A	63755268	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	6.838000	0.75359	2.639000	0.89480	0.650000	0.86243	GAT	CHMP2A	-	pfam_Snf7	ENSG00000130724		0.522	CHMP2A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHMP2A	HGNC	protein_coding	OTTHUMT00000467088.1	78	0.00	0	C	NM_014453		59063456	59063456	-1	no_errors	ENST00000312547	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	T
CHN1	1123	genome.wustl.edu	37	2	175779833	175779833	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:175779833G>A	ENST00000409900.3	-	5	526	c.213C>T	c.(211-213)ctC>ctT	p.L71L	CHN1_ENST00000409156.3_Silent_p.L71L|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	71	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTCCCGGATGAGGTAGCTCC	0.473			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													35.0	36.0	36.0					2																	175779833		1915	4123	6038	-	-	-	SO:0001819	synonymous_variant	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.213C>T	2.37:g.175779833G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.L71	ENST00000409900.3	37	c.213	CCDS46455.1	2																																																																																			CHN1	-	pfam_SH2,smart_SH2,pirsf_N-chimaerin,pfscan_SH2	ENSG00000128656		0.473	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	51	0.00	0	G	NM_001822		175779833	175779833	-1	no_errors	ENST00000409900	ensembl	human	known	69_37n	silent	43	21.82	12	SNP	0.996	A
CHN1	1123	genome.wustl.edu	37	2	175779833	175779833	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:175779833G>A	ENST00000409900.3	-	5	526	c.213C>T	c.(211-213)ctC>ctT	p.L71L	CHN1_ENST00000409156.3_Silent_p.L71L|CHN1_ENST00000488080.1_5'UTR	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	71	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TCTCCCGGATGAGGTAGCTCC	0.473			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													35.0	36.0	36.0					2																	175779833		1915	4123	6038	-	-	-	SO:0001819	synonymous_variant	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.213C>T	2.37:g.175779833G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Silent	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.L71	ENST00000409900.3	37	c.213	CCDS46455.1	2																																																																																			CHN1	-	pfam_SH2,smart_SH2,pirsf_N-chimaerin,pfscan_SH2	ENSG00000128656		0.473	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	67	0.00	0	G	NM_001822		175779833	175779833	-1	no_errors	ENST00000409900	ensembl	human	known	69_37n	silent	43	21.82	12	SNP	0.996	A
CHORDC1	26973	genome.wustl.edu	37	11	89935713	89935713	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:89935713C>T	ENST00000320585.6	-	11	1268	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CHORDC1_ENST00000529987.1_Missense_Mutation_p.D99N|CHORDC1_ENST00000529726.1_Missense_Mutation_p.D99N|CHORDC1_ENST00000457199.2_Missense_Mutation_p.D268N	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	287	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CGCTTTACATCAATCACCTGT	0.393																																						dbGAP											0													63.0	56.0	58.0					11																	89935713		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.859G>A	11.37:g.89935713C>T	ENSP00000319255:p.Asp287Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.D287N	ENST00000320585.6	37	c.859	CCDS8289.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458899	0.84317	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.43	5.43	0.79202	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.71036	2.16	0.80722	D	1	P;P	0.49447	0.603;0.924	B;P	0.50754	0.399;0.649	T	0.00849	-1.1541	9	.	.	.	1.7301	17.486	0.87688	0.0:1.0:0.0:0.0	.	268;287	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	N	287;99;268;99	ENSP00000319255:D287N;ENSP00000433719:D99N;ENSP00000401080:D268N;ENSP00000436632:D99N	.	D	-	1	0	CHORDC1	89575361	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.803000	0.75180	2.539000	0.85634	0.650000	0.86243	GAT	CHORDC1	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000110172		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	56	0.00	0	C	NM_012124		89935713	89935713	-1	no_errors	ENST00000320585	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
CHORDC1	26973	genome.wustl.edu	37	11	89935713	89935713	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:89935713C>T	ENST00000320585.6	-	11	1268	c.859G>A	c.(859-861)Gat>Aat	p.D287N	CHORDC1_ENST00000529987.1_Missense_Mutation_p.D99N|CHORDC1_ENST00000529726.1_Missense_Mutation_p.D99N|CHORDC1_ENST00000457199.2_Missense_Mutation_p.D268N	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	287	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with HSP90AA1 and HSP90AB1. {ECO:0000250}.				chaperone-mediated protein folding (GO:0061077)|negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299)|regulation of cellular response to heat (GO:1900034)|regulation of centrosome duplication (GO:0010824)|response to stress (GO:0006950)		Hsp90 protein binding (GO:0051879)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				CGCTTTACATCAATCACCTGT	0.393																																						dbGAP											0													63.0	56.0	58.0					11																	89935713		2200	4298	6498	-	-	-	SO:0001583	missense	0			AF192466	CCDS8289.1, CCDS44705.1	11q14.3	2011-01-25	2011-01-25		ENSG00000110172	ENSG00000110172			14525	protein-coding gene	gene with protein product		604353	"""cysteine and histidine-rich domain (CHORD)-containing, zinc-binding protein 1"", ""cysteine and histidine-rich domain (CHORD)-containing 1"""			10571178	Standard	NM_012124		Approved	CHP1	uc001pdg.2	Q9UHD1	OTTHUMG00000167305	ENST00000320585.6:c.859G>A	11.37:g.89935713C>T	ENSP00000319255:p.Asp287Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6P8|Q6IN49|Q8WVL9|Q9H3D6	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.D287N	ENST00000320585.6	37	c.859	CCDS8289.1	11	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458899	0.84317	.	.	ENSG00000110172	ENST00000320585;ENST00000529987;ENST00000457199;ENST00000529726	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	5.43	5.43	0.79202	CS-like domain (1);CS domain (1);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	M	0.71036	2.16	0.80722	D	1	P;P	0.49447	0.603;0.924	B;P	0.50754	0.399;0.649	T	0.00849	-1.1541	9	.	.	.	1.7301	17.486	0.87688	0.0:1.0:0.0:0.0	.	268;287	Q9UHD1-2;Q9UHD1	.;CHRD1_HUMAN	N	287;99;268;99	ENSP00000319255:D287N;ENSP00000433719:D99N;ENSP00000401080:D268N;ENSP00000436632:D99N	.	D	-	1	0	CHORDC1	89575361	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.803000	0.75180	2.539000	0.85634	0.650000	0.86243	GAT	CHORDC1	-	pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	ENSG00000110172		0.393	CHORDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHORDC1	HGNC	protein_coding	OTTHUMT00000394111.1	68	0.00	0	C	NM_012124		89935713	89935713	-1	no_errors	ENST00000320585	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
CIDECP	152302	genome.wustl.edu	37	3	10057190	10057190	+	RNA	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:10057190G>C	ENST00000432401.1	-	0	525									cell death-inducing DFFA-like effector c pseudogene																		CAGCTGCTTTGACTCCATTAG	0.522																																						dbGAP											0																																										-	-	-			0			AF279614		3p25.3	2007-07-26			ENSG00000186162	ENSG00000186162			24230	pseudogene	pseudogene							Standard	NR_002786		Approved	CICE			OTTHUMG00000155323		3.37:g.10057190G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000432401.1	37	NULL		3																																																																																			CIDECP	-	-	ENSG00000186162		0.522	CIDECP-001	KNOWN	basic	processed_transcript	CIDECP	HGNC	pseudogene	OTTHUMT00000339463.1	46	0.00	0	G			10057190	10057190	-1	no_errors	ENST00000335507	ensembl	human	known	69_37n	rna	23	23.33	7	SNP	0.001	C
CIDECP	152302	genome.wustl.edu	37	3	10057190	10057190	+	RNA	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:10057190G>C	ENST00000432401.1	-	0	525									cell death-inducing DFFA-like effector c pseudogene																		CAGCTGCTTTGACTCCATTAG	0.522																																						dbGAP											0																																										-	-	-			0			AF279614		3p25.3	2007-07-26			ENSG00000186162	ENSG00000186162			24230	pseudogene	pseudogene							Standard	NR_002786		Approved	CICE			OTTHUMG00000155323		3.37:g.10057190G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000432401.1	37	NULL		3																																																																																			CIDECP	-	-	ENSG00000186162		0.522	CIDECP-001	KNOWN	basic	processed_transcript	CIDECP	HGNC	pseudogene	OTTHUMT00000339463.1	43	0.00	0	G			10057190	10057190	-1	no_errors	ENST00000335507	ensembl	human	known	69_37n	rna	23	23.33	7	SNP	0.001	C
CIITA	4261	genome.wustl.edu	37	16	10989267	10989267	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:10989267G>A	ENST00000324288.8	+	2	314	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CIITA_ENST00000381835.5_Missense_Mutation_p.E61K|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	61	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGGAGAAGAAGAGATTGAGCT	0.577			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													92.0	87.0	89.0					16																	10989267		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.181G>A	16.37:g.10989267G>A	ENSP00000316328:p.Glu61Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.E61K	ENST00000324288.8	37	c.181	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058157	0.55325	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.81163	-1.46;0.97	4.49	4.49	0.54785	.	0.000000	0.43260	D	0.000590	D	0.86855	0.6033	L	0.57536	1.79	0.27426	N	0.954165	D;D;D;D;D;D	0.76494	0.999;0.993;0.994;0.994;0.994;0.994	D;D;P;P;D;P	0.85130	0.997;0.968;0.849;0.849;0.928;0.804	T	0.80647	-0.1289	10	0.87932	D	0	.	13.0559	0.58980	0.0:0.0:1.0:0.0	.	61;61;61;61;61;61	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	K	61	ENSP00000316328:E61K;ENSP00000371257:E61K	ENSP00000316328:E61K	E	+	1	0	CIITA	10896768	1.000000	0.71417	0.982000	0.44146	0.178000	0.23041	2.781000	0.47750	2.219000	0.72066	0.561000	0.74099	GAG	CIITA	-	prints_MHC_II_transact	ENSG00000179583		0.577	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	71	0.00	0	G	NM_000246		10989267	10989267	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	A
CIITA	4261	genome.wustl.edu	37	16	10989267	10989267	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:10989267G>A	ENST00000324288.8	+	2	314	c.181G>A	c.(181-183)Gag>Aag	p.E61K	CIITA_ENST00000381835.5_Missense_Mutation_p.E61K|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	61	Asp/Glu-rich (acidic).				aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGGAGAAGAAGAGATTGAGCT	0.577			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	dbGAP		Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													92.0	87.0	89.0					16																	10989267		2197	4300	6497	-	-	-	SO:0001583	missense	0			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.181G>A	16.37:g.10989267G>A	ENSP00000316328:p.Glu61Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.E61K	ENST00000324288.8	37	c.181	CCDS10544.1	16	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058157	0.55325	.	.	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.81163	-1.46;0.97	4.49	4.49	0.54785	.	0.000000	0.43260	D	0.000590	D	0.86855	0.6033	L	0.57536	1.79	0.27426	N	0.954165	D;D;D;D;D;D	0.76494	0.999;0.993;0.994;0.994;0.994;0.994	D;D;P;P;D;P	0.85130	0.997;0.968;0.849;0.849;0.928;0.804	T	0.80647	-0.1289	10	0.87932	D	0	.	13.0559	0.58980	0.0:0.0:1.0:0.0	.	61;61;61;61;61;61	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	K	61	ENSP00000316328:E61K;ENSP00000371257:E61K	ENSP00000316328:E61K	E	+	1	0	CIITA	10896768	1.000000	0.71417	0.982000	0.44146	0.178000	0.23041	2.781000	0.47750	2.219000	0.72066	0.561000	0.74099	GAG	CIITA	-	prints_MHC_II_transact	ENSG00000179583		0.577	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	91	0.00	0	G	NM_000246		10989267	10989267	+1	no_errors	ENST00000324288	ensembl	human	known	69_37n	missense	66	17.50	14	SNP	1.000	A
CINP	51550	genome.wustl.edu	37	14	102825882	102825882	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:102825882G>C	ENST00000216756.6	-	2	90	c.50C>G	c.(49-51)tCt>tGt	p.S17C	CINP_ENST00000536961.2_Missense_Mutation_p.S32C|snoU13_ENST00000458912.1_RNA|CINP_ENST00000541568.2_Missense_Mutation_p.S17C	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	17					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TGCACTGACAGATAAGACAGG	0.373																																						dbGAP											0													120.0	111.0	114.0					14																	102825882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.50C>G	14.37:g.102825882G>C	ENSP00000216756:p.Ser17Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	prints_Cyclin-dep_Kinase_2_interact	p.S32C	ENST00000216756.6	37	c.95	CCDS9972.1	14	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323823	0.60634	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.50548	0.78;0.74	5.15	4.24	0.50183	.	0.118844	0.64402	N	0.000014	T	0.65585	0.2705	M	0.75447	2.3	0.46901	D	0.999243	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-11.7487	9.716	0.40274	0.0781:0.1434:0.7784:0.0	.	17	Q9BW66	CINP_HUMAN	C	17;32;17	ENSP00000216756:S17C;ENSP00000442057:S32C	ENSP00000216756:S17C	S	-	2	0	CINP	101895635	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.125000	0.57931	1.122000	0.41944	-0.385000	0.06624	TCT	CINP	-	NULL	ENSG00000100865		0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CINP	HGNC	protein_coding	OTTHUMT00000415055.1	29	0.00	0	G	NM_032630		102825882	102825882	-1	no_errors	ENST00000536961	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.998	C
CINP	51550	genome.wustl.edu	37	14	102825882	102825882	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:102825882G>C	ENST00000216756.6	-	2	90	c.50C>G	c.(49-51)tCt>tGt	p.S17C	CINP_ENST00000536961.2_Missense_Mutation_p.S32C|snoU13_ENST00000458912.1_RNA|CINP_ENST00000541568.2_Missense_Mutation_p.S17C	NM_032630.2	NP_116019.1	Q9BW66	CINP_HUMAN	cyclin-dependent kinase 2 interacting protein	17					cell cycle (GO:0007049)|cell division (GO:0051301)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	nucleus (GO:0005634)				large_intestine(2)|lung(2)	4						TGCACTGACAGATAAGACAGG	0.373																																						dbGAP											0													120.0	111.0	114.0					14																	102825882		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056112, AF228148, AF228149	CCDS9972.1	14q32.33	2010-02-17			ENSG00000100865	ENSG00000100865			23789	protein-coding gene	gene with protein product		613362				16082200	Standard	NM_032630		Approved	MGC849	uc021sea.1	Q9BW66		ENST00000216756.6:c.50C>G	14.37:g.102825882G>C	ENSP00000216756:p.Ser17Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7P3|F5H8A7|Q9NPF9	Missense_Mutation	SNP	prints_Cyclin-dep_Kinase_2_interact	p.S32C	ENST00000216756.6	37	c.95	CCDS9972.1	14	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323823	0.60634	.	.	ENSG00000100865	ENST00000216756;ENST00000536961;ENST00000541568	T;T	0.50548	0.78;0.74	5.15	4.24	0.50183	.	0.118844	0.64402	N	0.000014	T	0.65585	0.2705	M	0.75447	2.3	0.46901	D	0.999243	D	0.89917	1.0	D	0.83275	0.996	T	0.67898	-0.5551	10	0.87932	D	0	-11.7487	9.716	0.40274	0.0781:0.1434:0.7784:0.0	.	17	Q9BW66	CINP_HUMAN	C	17;32;17	ENSP00000216756:S17C;ENSP00000442057:S32C	ENSP00000216756:S17C	S	-	2	0	CINP	101895635	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.125000	0.57931	1.122000	0.41944	-0.385000	0.06624	TCT	CINP	-	NULL	ENSG00000100865		0.373	CINP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CINP	HGNC	protein_coding	OTTHUMT00000415055.1	38	0.00	0	G	NM_032630		102825882	102825882	-1	no_errors	ENST00000536961	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.998	C
CLEC4E	26253	genome.wustl.edu	37	12	8689859	8689859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:8689859G>T	ENST00000299663.3	-	4	389	c.224C>A	c.(223-225)tCa>tAa	p.S75*	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	75					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATTCTTGACTGAACCTAGGAT	0.428																																						dbGAP											0													96.0	92.0	94.0					12																	8689859		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.224C>A	12.37:g.8689859G>T	ENSP00000299663:p.Ser75*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q6	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S75*	ENST00000299663.3	37	c.224	CCDS8594.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024932|3.024932	0.54683|0.54683	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000537698|ENST00000299663	.|.	.|.	.|.	5.23|5.23	1.2|1.2	0.21068|0.21068	.|.	.|0.292989	.|0.24854	.|N	.|0.035073	T|.	0.18257|.	0.0438|.	.|.	.|.	.|.	0.36138|0.36138	D|D	0.846602|0.846602	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25641|.	-1.0126|.	4|.	.|0.02654	.|T	.|1	.|.	3.5607|3.5607	0.07881|0.07881	0.2705:0.0:0.5533:0.1762|0.2705:0.0:0.5533:0.1762	.|.	.|.	.|.	.|.	K|X	15|75	.|.	.|ENSP00000299663:S75X	Q|S	-|-	1|2	0|0	CLEC4E|CLEC4E	8581126|8581126	0.176000|0.176000	0.23096|0.23096	0.917000|0.917000	0.36280|0.36280	0.011000|0.011000	0.07611|0.07611	0.427000|0.427000	0.21379|0.21379	0.471000|0.471000	0.27319|0.27319	0.591000|0.591000	0.81541|0.81541	CAG|TCA	CLEC4E	-	NULL	ENSG00000166523		0.428	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	HGNC	protein_coding	OTTHUMT00000400566.1	42	0.00	0	G	NM_014358		8689859	8689859	-1	no_errors	ENST00000299663	ensembl	human	known	69_37n	nonsense	9	35.71	5	SNP	0.670	T
CLEC4E	26253	genome.wustl.edu	37	12	8689859	8689859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:8689859G>T	ENST00000299663.3	-	4	389	c.224C>A	c.(223-225)tCa>tAa	p.S75*	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	75					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					ATTCTTGACTGAACCTAGGAT	0.428																																						dbGAP											0													96.0	92.0	94.0					12																	8689859		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.224C>A	12.37:g.8689859G>T	ENSP00000299663:p.Ser75*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6Q6	Nonsense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.S75*	ENST00000299663.3	37	c.224	CCDS8594.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.024932|3.024932	0.54683|0.54683	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000537698|ENST00000299663	.|.	.|.	.|.	5.23|5.23	1.2|1.2	0.21068|0.21068	.|.	.|0.292989	.|0.24854	.|N	.|0.035073	T|.	0.18257|.	0.0438|.	.|.	.|.	.|.	0.36138|0.36138	D|D	0.846602|0.846602	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.25641|.	-1.0126|.	4|.	.|0.02654	.|T	.|1	.|.	3.5607|3.5607	0.07881|0.07881	0.2705:0.0:0.5533:0.1762|0.2705:0.0:0.5533:0.1762	.|.	.|.	.|.	.|.	K|X	15|75	.|.	.|ENSP00000299663:S75X	Q|S	-|-	1|2	0|0	CLEC4E|CLEC4E	8581126|8581126	0.176000|0.176000	0.23096|0.23096	0.917000|0.917000	0.36280|0.36280	0.011000|0.011000	0.07611|0.07611	0.427000|0.427000	0.21379|0.21379	0.471000|0.471000	0.27319|0.27319	0.591000|0.591000	0.81541|0.81541	CAG|TCA	CLEC4E	-	NULL	ENSG00000166523		0.428	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC4E	HGNC	protein_coding	OTTHUMT00000400566.1	29	0.00	0	G	NM_014358		8689859	8689859	-1	no_errors	ENST00000299663	ensembl	human	known	69_37n	nonsense	9	35.71	5	SNP	0.670	T
CLPTM1L	81037	genome.wustl.edu	37	5	1324880	1324880	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:1324880G>C	ENST00000320895.5	-	11	1452	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.Q230E|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.Q363E|CLPTM1L_ENST00000506641.1_5'UTR	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	399					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGACTTACCTGAGTATCGTAC	0.468																																						dbGAP											0													309.0	224.0	252.0					5																	1324880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1195C>G	5.37:g.1324880G>C	ENSP00000313854:p.Gln399Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.Q399E	ENST00000320895.5	37	c.1195	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	G	3.200	-0.163842	0.06502	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.40476	1.03;1.03;1.03	5.15	5.15	0.70609	.	0.126268	0.56097	D	0.000032	T	0.24547	0.0595	N	0.10760	0.04	0.58432	D	0.999999	B;B	0.12013	0.005;0.003	B;B	0.18263	0.021;0.005	T	0.09707	-1.0662	10	0.09590	T	0.72	-30.9615	17.7422	0.88410	0.0:0.0:1.0:0.0	.	399;230	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	E	399;230;363	ENSP00000313854:Q399E;ENSP00000423321:Q230E;ENSP00000315196:Q363E	ENSP00000313854:Q399E	Q	-	1	0	CLPTM1L	1377880	1.000000	0.71417	0.949000	0.38748	0.131000	0.20780	8.693000	0.91288	2.553000	0.86117	0.561000	0.74099	CAG	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.468	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	66	0.00	0	G	NM_030782		1324880	1324880	-1	no_errors	ENST00000320895	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	1.000	C
CLPTM1L	81037	genome.wustl.edu	37	5	1324880	1324880	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:1324880G>C	ENST00000320895.5	-	11	1452	c.1195C>G	c.(1195-1197)Cag>Gag	p.Q399E	CLPTM1L_ENST00000507807.1_Missense_Mutation_p.Q230E|CLPTM1L_ENST00000320927.6_Missense_Mutation_p.Q363E|CLPTM1L_ENST00000506641.1_5'UTR	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	399					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		TGACTTACCTGAGTATCGTAC	0.468																																						dbGAP											0													309.0	224.0	252.0					5																	1324880		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027306	CCDS3862.1	5p15.33	2008-02-05			ENSG00000049656	ENSG00000049656			24308	protein-coding gene	gene with protein product	"""cisplatin resistance related protein"""	612585				11162647	Standard	NM_030782		Approved	FLJ14400, CRR9	uc003jch.3	Q96KA5	OTTHUMG00000131015	ENST00000320895.5:c.1195C>G	5.37:g.1324880G>C	ENSP00000313854:p.Gln399Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTC1|Q658W6|Q7LG29|Q96AZ0|Q9H3N4	Missense_Mutation	SNP	pfam_CLPTM1	p.Q399E	ENST00000320895.5	37	c.1195	CCDS3862.1	5	.	.	.	.	.	.	.	.	.	.	G	3.200	-0.163842	0.06502	.	.	ENSG00000049656	ENST00000320895;ENST00000507807;ENST00000320927	T;T;T	0.40476	1.03;1.03;1.03	5.15	5.15	0.70609	.	0.126268	0.56097	D	0.000032	T	0.24547	0.0595	N	0.10760	0.04	0.58432	D	0.999999	B;B	0.12013	0.005;0.003	B;B	0.18263	0.021;0.005	T	0.09707	-1.0662	10	0.09590	T	0.72	-30.9615	17.7422	0.88410	0.0:0.0:1.0:0.0	.	399;230	Q96KA5;G5E9Z2	CLP1L_HUMAN;.	E	399;230;363	ENSP00000313854:Q399E;ENSP00000423321:Q230E;ENSP00000315196:Q363E	ENSP00000313854:Q399E	Q	-	1	0	CLPTM1L	1377880	1.000000	0.71417	0.949000	0.38748	0.131000	0.20780	8.693000	0.91288	2.553000	0.86117	0.561000	0.74099	CAG	CLPTM1L	-	pfam_CLPTM1	ENSG00000049656		0.468	CLPTM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1L	HGNC	protein_coding	OTTHUMT00000253649.2	58	0.00	0	G	NM_030782		1324880	1324880	-1	no_errors	ENST00000320895	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	1.000	C
CLPX	10845	genome.wustl.edu	37	15	65449253	65449253	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:65449253C>T	ENST00000300107.3	-	9	1263	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	359					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATCTACTTCATCCAGAAAG	0.378																																						dbGAP											0													125.0	111.0	115.0					15																	65449253		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1075G>A	15.37:g.65449253C>T	ENSP00000300107:p.Glu359Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	p.E359K	ENST00000300107.3	37	c.1075	CCDS10202.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.262610	0.95399	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.77358	-1.09	5.94	5.02	0.67125	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.042250	0.85682	N	0.000000	D	0.93458	0.7913	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.83275	0.9;0.996	D	0.96179	0.9129	10	0.87932	D	0	.	15.2415	0.73474	0.0:0.9327:0.0:0.0673	.	359;359	Q9H072;O76031	.;CLPX_HUMAN	K	359	ENSP00000300107:E359K	ENSP00000300107:E359K	E	-	1	0	CLPX	63236306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.519000	0.48950	0.557000	0.71058	GAA	CLPX	-	pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	ENSG00000166855		0.378	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	HGNC	protein_coding	OTTHUMT00000256828.2	47	0.00	0	C	NM_006660		65449253	65449253	-1	no_errors	ENST00000300107	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	T
CLPX	10845	genome.wustl.edu	37	15	65449253	65449253	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:65449253C>T	ENST00000300107.3	-	9	1263	c.1075G>A	c.(1075-1077)Gaa>Aaa	p.E359K		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	359					ATP catabolic process (GO:0006200)|positive regulation of peptidase activity (GO:0010952)|protein folding (GO:0006457)|proteolysis involved in cellular protein catabolic process (GO:0051603)	endopeptidase Clp complex (GO:0009368)|mitochondrial endopeptidase Clp complex (GO:0009841)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|metal ion binding (GO:0046872)|peptidase activator activity (GO:0016504)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTATCTACTTCATCCAGAAAG	0.378																																						dbGAP											0													125.0	111.0	115.0					15																	65449253		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ006267	CCDS10202.1	15q22.31	2013-09-12	2013-09-12		ENSG00000166855	ENSG00000166855		"""ATPases / AAA-type"""	2088	protein-coding gene	gene with protein product		615611	"""ClpX (caseinolytic protease X, E. coli) homolog"", ""ClpX caseinolytic protease X homolog (E. coli)"", ""ClpX caseinolytic peptidase X homolog (E. coli)"""			22841477	Standard	NM_006660		Approved		uc002aom.3	O76031	OTTHUMG00000133139	ENST00000300107.3:c.1075G>A	15.37:g.65449253C>T	ENSP00000300107:p.Glu359Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L428|A8K8F1|B9EGI8|Q9H4D9	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	p.E359K	ENST00000300107.3	37	c.1075	CCDS10202.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.262610	0.95399	.	.	ENSG00000166855	ENST00000300107;ENST00000546194	T	0.77358	-1.09	5.94	5.02	0.67125	ATPase, AAA-2 (1);ATPase, AAA+ type, core (1);	0.042250	0.85682	N	0.000000	D	0.93458	0.7913	H	0.99475	4.585	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.83275	0.9;0.996	D	0.96179	0.9129	10	0.87932	D	0	.	15.2415	0.73474	0.0:0.9327:0.0:0.0673	.	359;359	Q9H072;O76031	.;CLPX_HUMAN	K	359	ENSP00000300107:E359K	ENSP00000300107:E359K	E	-	1	0	CLPX	63236306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	1.519000	0.48950	0.557000	0.71058	GAA	CLPX	-	pfam_ATPase_AAA-2,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX	ENSG00000166855		0.378	CLPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPX	HGNC	protein_coding	OTTHUMT00000256828.2	35	0.00	0	C	NM_006660		65449253	65449253	-1	no_errors	ENST00000300107	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	T
CNPY1	285888	genome.wustl.edu	37	7	155301659	155301659	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:155301659C>G	ENST00000321736.5	-	2	236	c.74G>C	c.(73-75)gGa>gCa	p.G25A	CNPY1_ENST00000406197.1_Missense_Mutation_p.G25A|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	25										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TATTTTGTCTCCTTTCCTAGG	0.388																																						dbGAP											0													78.0	76.0	77.0					7																	155301659		1802	4071	5873	-	-	-	SO:0001583	missense	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.74G>C	7.37:g.155301659C>G	ENSP00000317439:p.Gly25Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGX3	Missense_Mutation	SNP	pfam_DUF3456	p.G25A	ENST00000321736.5	37	c.74	CCDS43684.1	7	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964541	0.53507	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.34859	1.34;1.34	4.85	3.02	0.34903	.	0.371640	0.28247	N	0.016042	T	0.28566	0.0707	.	.	.	0.26712	N	0.970949	B	0.26041	0.14	B	0.31751	0.135	T	0.27434	-1.0074	9	0.72032	D	0.01	-19.1092	5.3412	0.15984	0.0:0.6162:0.149:0.2348	.	25	Q3B7I2	CNPY1_HUMAN	A	25	ENSP00000384514:G25A;ENSP00000317439:G25A	ENSP00000317439:G25A	G	-	2	0	CNPY1	154994420	0.575000	0.26692	0.703000	0.30354	0.728000	0.41692	0.640000	0.24705	0.452000	0.26830	0.557000	0.71058	GGA	CNPY1	-	pfam_DUF3456	ENSG00000146910		0.388	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	32	0.00	0	C	XM_001129537		155301659	155301659	-1	no_errors	ENST00000321736	ensembl	human	putative	69_37n	missense	20	20.00	5	SNP	0.790	G
CNPY1	285888	genome.wustl.edu	37	7	155301659	155301659	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:155301659C>G	ENST00000321736.5	-	2	236	c.74G>C	c.(73-75)gGa>gCa	p.G25A	CNPY1_ENST00000406197.1_Missense_Mutation_p.G25A|AC008060.5_ENST00000415333.1_RNA	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	25										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TATTTTGTCTCCTTTCCTAGG	0.388																																						dbGAP											0													78.0	76.0	77.0					7																	155301659		1802	4071	5873	-	-	-	SO:0001583	missense	0				CCDS43684.1	7q36.3	2014-02-12	2013-07-23		ENSG00000146910	ENSG00000146910			27786	protein-coding gene	gene with protein product		612493	"""canopy 1 homolog (zebrafish)"""			16488878	Standard	NM_001103176		Approved		uc003wmc.1	Q3B7I2	OTTHUMG00000151353	ENST00000321736.5:c.74G>C	7.37:g.155301659C>G	ENSP00000317439:p.Gly25Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGX3	Missense_Mutation	SNP	pfam_DUF3456	p.G25A	ENST00000321736.5	37	c.74	CCDS43684.1	7	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964541	0.53507	.	.	ENSG00000146910	ENST00000406197;ENST00000321736	T;T	0.34859	1.34;1.34	4.85	3.02	0.34903	.	0.371640	0.28247	N	0.016042	T	0.28566	0.0707	.	.	.	0.26712	N	0.970949	B	0.26041	0.14	B	0.31751	0.135	T	0.27434	-1.0074	9	0.72032	D	0.01	-19.1092	5.3412	0.15984	0.0:0.6162:0.149:0.2348	.	25	Q3B7I2	CNPY1_HUMAN	A	25	ENSP00000384514:G25A;ENSP00000317439:G25A	ENSP00000317439:G25A	G	-	2	0	CNPY1	154994420	0.575000	0.26692	0.703000	0.30354	0.728000	0.41692	0.640000	0.24705	0.452000	0.26830	0.557000	0.71058	GGA	CNPY1	-	pfam_DUF3456	ENSG00000146910		0.388	CNPY1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CNPY1	HGNC	protein_coding	OTTHUMT00000322335.1	36	0.00	0	C	XM_001129537		155301659	155301659	-1	no_errors	ENST00000321736	ensembl	human	putative	69_37n	missense	20	20.00	5	SNP	0.790	G
CNTNAP1	8506	genome.wustl.edu	37	17	40844691	40844691	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:40844691C>T	ENST00000264638.4	+	17	2922	c.2705C>T	c.(2704-2706)cCa>cTa	p.P902L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	902	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGGCCTATGCCACTGCAGACC	0.587																																						dbGAP											0													77.0	76.0	77.0					17																	40844691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2705C>T	17.37:g.40844691C>T	ENSP00000264638:p.Pro902Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P902L	ENST00000264638.4	37	c.2705	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331076	0.81690	.	.	ENSG00000108797	ENST00000264638	T	0.80566	-1.39	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.85725	0.5763	M	0.79614	2.46	0.80722	D	1	P	0.41978	0.767	P	0.46110	0.504	D	0.86737	0.1952	10	0.62326	D	0.03	.	19.815	0.96564	0.0:1.0:0.0:0.0	.	902	P78357	CNTP1_HUMAN	L	902	ENSP00000264638:P902L	ENSP00000264638:P902L	P	+	2	0	CNTNAP1	38098217	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	7.802000	0.85969	2.681000	0.91329	0.561000	0.74099	CCA	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	57	0.00	0	C	NM_003632		40844691	40844691	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	1.000	T
CNTNAP1	8506	genome.wustl.edu	37	17	40844691	40844691	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:40844691C>T	ENST00000264638.4	+	17	2922	c.2705C>T	c.(2704-2706)cCa>cTa	p.P902L	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	902	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGGCCTATGCCACTGCAGACC	0.587																																						dbGAP											0													77.0	76.0	77.0					17																	40844691		2203	4300	6503	-	-	-	SO:0001583	missense	0			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2705C>T	17.37:g.40844691C>T	ENSP00000264638:p.Pro902Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.P902L	ENST00000264638.4	37	c.2705	CCDS11436.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.331076	0.81690	.	.	ENSG00000108797	ENST00000264638	T	0.80566	-1.39	5.69	5.69	0.88448	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000001	D	0.85725	0.5763	M	0.79614	2.46	0.80722	D	1	P	0.41978	0.767	P	0.46110	0.504	D	0.86737	0.1952	10	0.62326	D	0.03	.	19.815	0.96564	0.0:1.0:0.0:0.0	.	902	P78357	CNTP1_HUMAN	L	902	ENSP00000264638:P902L	ENSP00000264638:P902L	P	+	2	0	CNTNAP1	38098217	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	7.802000	0.85969	2.681000	0.91329	0.561000	0.74099	CCA	CNTNAP1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000108797		0.587	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP1	HGNC	protein_coding	OTTHUMT00000452342.1	46	0.00	0	C	NM_003632		40844691	40844691	+1	no_errors	ENST00000264638	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	1.000	T
COG5	10466	genome.wustl.edu	37	7	106924090	106924090	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:106924090G>C	ENST00000347053.3	-	13	1544	c.1494C>G	c.(1492-1494)aaC>aaG	p.N498K	COG5_ENST00000297135.3_Missense_Mutation_p.N498K|COG5_ENST00000393603.2_Missense_Mutation_p.N498K	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	498					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAAAACCAAGTTGATAGGAT	0.393																																						dbGAP											0													123.0	136.0	131.0					7																	106924090		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1494C>G	7.37:g.106924090G>C	ENSP00000334703:p.Asn498Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.N498K	ENST00000347053.3	37	c.1494	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700917	0.68501	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.61158	0.13;0.13;0.13	5.68	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.77820	2.39	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.74674	0.98;0.984	T	0.69734	-0.5065	10	0.38643	T	0.18	-15.0694	6.8525	0.24022	0.3427:0.0:0.6573:0.0	.	498;498	Q9UP83;Q9UP83-2	COG5_HUMAN;.	K	498	ENSP00000334703:N498K;ENSP00000297135:N498K;ENSP00000377228:N498K	ENSP00000297135:N498K	N	-	3	2	COG5	106711326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.283000	0.33237	1.527000	0.49086	0.563000	0.77884	AAC	COG5	-	NULL	ENSG00000164597		0.393	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	52	0.00	0	G			106924090	106924090	-1	no_errors	ENST00000297135	ensembl	human	known	69_37n	missense	24	20.00	6	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	148117965	148117965	+	3'UTR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:148117965G>C	ENST00000361727.3	+	0	9769				CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTAAACTAGAATGAAAGAA	0.289										HNSCC(39;0.1)																												dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*5257G>C	7.37:g.148117965G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	SNP	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			CNTNAP2	-	-	ENSG00000174469		0.289	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	44	0.00	0	G			148117965	148117965	+1	no_errors	ENST00000463592	ensembl	human	known	69_37n	rna	35	18.60	8	SNP	1.000	C
CNTNAP2	26047	genome.wustl.edu	37	7	148117965	148117965	+	3'UTR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:148117965G>C	ENST00000361727.3	+	0	9769				CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTAAACTAGAATGAAAGAA	0.289										HNSCC(39;0.1)																												dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.*5257G>C	7.37:g.148117965G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	SNP	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			CNTNAP2	-	-	ENSG00000174469		0.289	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1	45	0.00	0	G			148117965	148117965	+1	no_errors	ENST00000463592	ensembl	human	known	69_37n	rna	35	18.60	8	SNP	1.000	C
COL6A5	256076	genome.wustl.edu	37	3	130095627	130095627	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:130095627C>T	ENST00000432398.2	+	3	1109	c.615C>T	c.(613-615)atC>atT	p.I205I	COL6A5_ENST00000265379.6_Silent_p.I205I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	205	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGACACAGATCATCAAGGATG	0.478																																						dbGAP											0													100.0	82.0	87.0					3																	130095627		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.615C>T	3.37:g.130095627C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.I205	ENST00000432398.2	37	c.615		3																																																																																			COL6A5	-	smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		41	0.00	0	C	NM_153264		130095627	130095627	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130095627	130095627	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:130095627C>T	ENST00000432398.2	+	3	1109	c.615C>T	c.(613-615)atC>atT	p.I205I	COL6A5_ENST00000265379.6_Silent_p.I205I	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	205	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGACACAGATCATCAAGGATG	0.478																																						dbGAP											0													100.0	82.0	87.0					3																	130095627		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.615C>T	3.37:g.130095627C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.I205	ENST00000432398.2	37	c.615		3																																																																																			COL6A5	-	smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.478	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		35	0.00	0	C	NM_153264		130095627	130095627	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	17	32.00	8	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130116894	130116894	+	Silent	SNP	C	C	T	rs188562094		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:130116894C>T	ENST00000432398.2	+	10	4424	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	COL6A5_ENST00000265379.6_Silent_p.D1310D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1310	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTTCAGACGGTCTCCAGA	0.343																																						dbGAP											0													145.0	123.0	130.0					3																	130116894		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3930C>T	3.37:g.130116894C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1310	ENST00000432398.2	37	c.3930		3																																																																																			COL6A5	-	NULL	ENSG00000172752		0.343	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		64	0.00	0	C	NM_153264		130116894	130116894	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	38	20.83	10	SNP	0.998	T
COL6A5	256076	genome.wustl.edu	37	3	130116894	130116894	+	Silent	SNP	C	C	T	rs188562094		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:130116894C>T	ENST00000432398.2	+	10	4424	c.3930C>T	c.(3928-3930)gaC>gaT	p.D1310D	COL6A5_ENST00000265379.6_Silent_p.D1310D	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1310	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTTTTCAGACGGTCTCCAGA	0.343																																						dbGAP											0													145.0	123.0	130.0					3																	130116894		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.3930C>T	3.37:g.130116894C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D1310	ENST00000432398.2	37	c.3930		3																																																																																			COL6A5	-	NULL	ENSG00000172752		0.343	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		47	0.00	0	C	NM_153264		130116894	130116894	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	silent	38	20.83	10	SNP	0.998	T
COPA	1314	genome.wustl.edu	37	1	160267442	160267442	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:160267442C>T	ENST00000241704.7	-	20	2300	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	COPA_ENST00000368069.3_Missense_Mutation_p.E700K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	691					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGCACATTTCCACAATCTGG	0.453																																						dbGAP											0													94.0	93.0	93.0					1																	160267442		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2071G>A	1.37:g.160267442C>T	ENSP00000241704:p.Glu691Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E700K	ENST00000241704.7	37	c.2098	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.705393	0.96812	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68624	-0.3;-0.34	5.68	5.68	0.88126	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	H	0.94658	3.565	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79784	0.993;0.958	D	0.88861	0.3326	10	0.87932	D	0	-22.427	18.7245	0.91710	0.0:1.0:0.0:0.0	.	691;700	P53621;P53621-2	COPA_HUMAN;.	K	700;691	ENSP00000357048:E700K;ENSP00000241704:E691K	ENSP00000241704:E691K	E	-	1	0	COPA	158534066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.835000	0.97688	0.650000	0.86243	GAA	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.453	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	32	0.00	0	C	NM_004371		160267442	160267442	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
COPA	1314	genome.wustl.edu	37	1	160267442	160267442	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:160267442C>T	ENST00000241704.7	-	20	2300	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	COPA_ENST00000368069.3_Missense_Mutation_p.E700K	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	691					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGCACATTTCCACAATCTGG	0.453																																						dbGAP											0													94.0	93.0	93.0					1																	160267442		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.2071G>A	1.37:g.160267442C>T	ENSP00000241704:p.Glu691Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E700K	ENST00000241704.7	37	c.2098	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.705393	0.96812	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.68624	-0.3;-0.34	5.68	5.68	0.88126	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.85932	0.5812	H	0.94658	3.565	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.79784	0.993;0.958	D	0.88861	0.3326	10	0.87932	D	0	-22.427	18.7245	0.91710	0.0:1.0:0.0:0.0	.	691;700	P53621;P53621-2	COPA_HUMAN;.	K	700;691	ENSP00000357048:E700K;ENSP00000241704:E691K	ENSP00000241704:E691K	E	-	1	0	COPA	158534066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.835000	0.97688	0.650000	0.86243	GAA	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.453	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	38	0.00	0	C	NM_004371		160267442	160267442	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
CS	1431	genome.wustl.edu	37	12	56666906	56666906	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:56666906C>G	ENST00000351328.3	-	11	1553	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	CS_ENST00000542324.2_Missense_Mutation_p.E442Q|CS_ENST00000548567.1_Missense_Mutation_p.E389Q	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	455					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		ATCAGACCCTCTGTGCTCATG	0.493																																						dbGAP											0													54.0	51.0	52.0					12																	56666906		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1363G>C	12.37:g.56666906C>G	ENSP00000342056:p.Glu455Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.E455Q	ENST00000351328.3	37	c.1363	CCDS8913.1	12	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197646	0.58126	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324	.	.	.	5.61	5.61	0.85477	Citrate synthase-like, core (1);	0.100801	0.64402	D	0.000004	T	0.58552	0.2130	L	0.45698	1.435	0.44275	D	0.997135	B;B;B	0.26602	0.067;0.011;0.154	B;B;B	0.22601	0.04;0.04;0.04	T	0.55431	-0.8142	9	0.48119	T	0.1	-5.6445	18.7847	0.91949	0.0:1.0:0.0:0.0	.	442;410;455	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	Q	389;455;442	.	ENSP00000342056:E455Q	E	-	1	0	CS	54953173	0.995000	0.38212	0.789000	0.31954	0.933000	0.57130	3.507000	0.53371	2.798000	0.96311	0.655000	0.94253	GAG	CS	-	superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk	ENSG00000062485		0.493	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	74	0.00	0	C	NM_004077		56666906	56666906	-1	no_errors	ENST00000351328	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.998	G
CS	1431	genome.wustl.edu	37	12	56666906	56666906	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:56666906C>G	ENST00000351328.3	-	11	1553	c.1363G>C	c.(1363-1365)Gag>Cag	p.E455Q	CS_ENST00000542324.2_Missense_Mutation_p.E442Q|CS_ENST00000548567.1_Missense_Mutation_p.E389Q	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	455					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		ATCAGACCCTCTGTGCTCATG	0.493																																						dbGAP											0													54.0	51.0	52.0					12																	56666906		2203	4297	6500	-	-	-	SO:0001583	missense	0				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.1363G>C	12.37:g.56666906C>G	ENSP00000342056:p.Glu455Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	pfam_Citrate_synthase-like,superfamily_Citrate_synthase-like_core,prints_Citrate_synthase-like,tigrfam_Citrate_synthase_euk	p.E455Q	ENST00000351328.3	37	c.1363	CCDS8913.1	12	.	.	.	.	.	.	.	.	.	.	C	16.71	3.197646	0.58126	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324	.	.	.	5.61	5.61	0.85477	Citrate synthase-like, core (1);	0.100801	0.64402	D	0.000004	T	0.58552	0.2130	L	0.45698	1.435	0.44275	D	0.997135	B;B;B	0.26602	0.067;0.011;0.154	B;B;B	0.22601	0.04;0.04;0.04	T	0.55431	-0.8142	9	0.48119	T	0.1	-5.6445	18.7847	0.91949	0.0:1.0:0.0:0.0	.	442;410;455	B4DJV2;B3KTN4;O75390	.;.;CISY_HUMAN	Q	389;455;442	.	ENSP00000342056:E455Q	E	-	1	0	CS	54953173	0.995000	0.38212	0.789000	0.31954	0.933000	0.57130	3.507000	0.53371	2.798000	0.96311	0.655000	0.94253	GAG	CS	-	superfamily_Citrate_synthase-like_core,tigrfam_Citrate_synthase_euk	ENSG00000062485		0.493	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CS	HGNC	protein_coding	OTTHUMT00000408588.2	81	0.00	0	C	NM_004077		56666906	56666906	-1	no_errors	ENST00000351328	ensembl	human	known	69_37n	missense	41	26.79	15	SNP	0.998	G
CSRP1	1465	genome.wustl.edu	37	1	201458006	201458006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:201458006C>A	ENST00000367306.1	-	5	751	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CSRP1_ENST00000532460.1_Nonsense_Mutation_p.E130*|CSRP1_ENST00000531916.1_Nonsense_Mutation_p.E130*|CSRP1_ENST00000526723.1_Nonsense_Mutation_p.E97*|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000340006.2_Nonsense_Mutation_p.E130*|CSRP1_ENST00000533432.1_Nonsense_Mutation_p.E130*			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	130	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						ATCACCTTCTCCGCAGCATAG	0.557																																						dbGAP											0													76.0	69.0	72.0					1																	201458006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.388G>T	1.37:g.201458006C>A	ENSP00000356275:p.Glu130*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K268|Q5U0J2	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E130*	ENST00000367306.1	37	c.388	CCDS1413.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.191050	0.97362	.	.	ENSG00000159176	ENST00000367306;ENST00000545649;ENST00000340006;ENST00000531916;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.2927	19.4657	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	130;107;130;130;130;130;97;93	.	ENSP00000345079:E130X	E	-	1	0	CSRP1	199724629	1.000000	0.71417	0.966000	0.40874	0.963000	0.63663	7.690000	0.84178	2.579000	0.87056	0.563000	0.77884	GAG	CSRP1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000159176		0.557	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP1	HGNC	protein_coding	OTTHUMT00000087027.1	48	0.00	0	C	NM_004078		201458006	201458006	-1	no_errors	ENST00000340006	ensembl	human	known	69_37n	nonsense	50	19.35	12	SNP	1.000	A
CSRP1	1465	genome.wustl.edu	37	1	201458006	201458006	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:201458006C>A	ENST00000367306.1	-	5	751	c.388G>T	c.(388-390)Gag>Tag	p.E130*	CSRP1_ENST00000532460.1_Nonsense_Mutation_p.E130*|CSRP1_ENST00000531916.1_Nonsense_Mutation_p.E130*|CSRP1_ENST00000526723.1_Nonsense_Mutation_p.E97*|CSRP1_ENST00000458271.2_5'UTR|CSRP1_ENST00000340006.2_Nonsense_Mutation_p.E130*|CSRP1_ENST00000533432.1_Nonsense_Mutation_p.E130*			P21291	CSRP1_HUMAN	cysteine and glycine-rich protein 1	130	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				platelet aggregation (GO:0070527)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(2)|ovary(1)	6						ATCACCTTCTCCGCAGCATAG	0.557																																						dbGAP											0													76.0	69.0	72.0					1																	201458006		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M33146	CCDS1413.1	1q32	2008-02-05			ENSG00000159176	ENSG00000159176			2469	protein-coding gene	gene with protein product		123876		CYRP		2115670, 9925910	Standard	NM_004078		Approved	CSRP, D1S181E	uc021phh.1	P21291	OTTHUMG00000035773	ENST00000367306.1:c.388G>T	1.37:g.201458006C>A	ENSP00000356275:p.Glu130*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K268|Q5U0J2	Nonsense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.E130*	ENST00000367306.1	37	c.388	CCDS1413.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.191050	0.97362	.	.	ENSG00000159176	ENST00000367306;ENST00000545649;ENST00000340006;ENST00000531916;ENST00000532460;ENST00000533432;ENST00000526723;ENST00000524951	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-39.2927	19.4657	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	130;107;130;130;130;130;97;93	.	ENSP00000345079:E130X	E	-	1	0	CSRP1	199724629	1.000000	0.71417	0.966000	0.40874	0.963000	0.63663	7.690000	0.84178	2.579000	0.87056	0.563000	0.77884	GAG	CSRP1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000159176		0.557	CSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSRP1	HGNC	protein_coding	OTTHUMT00000087027.1	51	0.00	0	C	NM_004078		201458006	201458006	-1	no_errors	ENST00000340006	ensembl	human	known	69_37n	nonsense	50	19.35	12	SNP	1.000	A
CTC1	80169	genome.wustl.edu	37	17	8135130	8135130	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:8135130G>A	ENST00000315684.8	-	14	2396	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	797					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAAATGAGGTGAACCTGGGAG	0.572																																						dbGAP											0													75.0	83.0	80.0					17																	8135130		1970	4162	6132	-	-	-	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2389C>T	17.37:g.8135130G>A	ENSP00000313759:p.His797Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.H797Y	ENST00000315684.8	37	c.2389	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130126	0.08981	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82255	-1.59;-1.59	5.8	0.988	0.19796	.	0.534254	0.18991	N	0.125596	T	0.59459	0.2195	N	0.08118	0	0.20489	N	0.999897	B	0.13145	0.007	B	0.14023	0.01	T	0.45145	-0.9281	10	0.06494	T	0.89	-6.9367	8.2366	0.31629	0.3875:0.0:0.6125:0.0	.	797	Q2NKJ3	CTC1_HUMAN	Y	797;762	ENSP00000313759:H797Y;ENSP00000396018:H762Y	ENSP00000313759:H797Y	H	-	1	0	CTC1	8075855	0.997000	0.39634	0.572000	0.28498	0.100000	0.18952	0.896000	0.28377	0.356000	0.24157	0.655000	0.94253	CAC	CTC1	-	NULL	ENSG00000178971		0.572	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	51	0.00	0	G	NM_025099		8135130	8135130	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.768	A
CTC1	80169	genome.wustl.edu	37	17	8135130	8135130	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:8135130G>A	ENST00000315684.8	-	14	2396	c.2389C>T	c.(2389-2391)Cac>Tac	p.H797Y		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	797					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AAAATGAGGTGAACCTGGGAG	0.572																																						dbGAP											0													75.0	83.0	80.0					17																	8135130		1970	4162	6132	-	-	-	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.2389C>T	17.37:g.8135130G>A	ENSP00000313759:p.His797Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	NULL	p.H797Y	ENST00000315684.8	37	c.2389	CCDS42259.1	17	.	.	.	.	.	.	.	.	.	.	G	4.700	0.130126	0.08981	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.82255	-1.59;-1.59	5.8	0.988	0.19796	.	0.534254	0.18991	N	0.125596	T	0.59459	0.2195	N	0.08118	0	0.20489	N	0.999897	B	0.13145	0.007	B	0.14023	0.01	T	0.45145	-0.9281	10	0.06494	T	0.89	-6.9367	8.2366	0.31629	0.3875:0.0:0.6125:0.0	.	797	Q2NKJ3	CTC1_HUMAN	Y	797;762	ENSP00000313759:H797Y;ENSP00000396018:H762Y	ENSP00000313759:H797Y	H	-	1	0	CTC1	8075855	0.997000	0.39634	0.572000	0.28498	0.100000	0.18952	0.896000	0.28377	0.356000	0.24157	0.655000	0.94253	CAC	CTC1	-	NULL	ENSG00000178971		0.572	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTC1	HGNC	protein_coding	OTTHUMT00000442012.1	28	0.00	0	G	NM_025099		8135130	8135130	-1	no_errors	ENST00000315684	ensembl	human	known	69_37n	missense	19	13.64	3	SNP	0.768	A
CUL2	8453	genome.wustl.edu	37	10	35333605	35333605	+	Splice_Site	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:35333605C>T	ENST00000374748.1	-	9	917		c.e9-1		CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000374746.1_Splice_Site|CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000602371.1_Splice_Site|CUL2_ENST00000374742.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCTGATAAAACTGAATAAATC	0.294																																						dbGAP											0													43.0	45.0	45.0					10																	35333605		2201	4291	6492	-	-	-	SO:0001630	splice_region_variant	0			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.604-1G>A	10.37:g.35333605C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Splice_Site	SNP	-	e8-1	ENST00000374748.1	37	c.661-1	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353839	0.82243	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3973	0.94612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL2	35373611	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.660000	0.90430	0.455000	0.32223	.	CUL2	-	-	ENSG00000108094		0.294	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	49	0.00	0	C	NM_003591	Intron	35333605	35333605	-1	no_errors	ENST00000537177	ensembl	human	known	69_37n	splice_site	37	21.28	10	SNP	1.000	T
CUL2	8453	genome.wustl.edu	37	10	35333605	35333605	+	Splice_Site	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:35333605C>T	ENST00000374748.1	-	9	917		c.e9-1		CUL2_ENST00000537177.1_Splice_Site|CUL2_ENST00000374746.1_Splice_Site|CUL2_ENST00000374751.3_Splice_Site|CUL2_ENST00000374749.3_Splice_Site|CUL2_ENST00000602371.1_Splice_Site|CUL2_ENST00000374742.1_Splice_Site			Q13617	CUL2_HUMAN	cullin 2						cell cycle arrest (GO:0007050)|cellular response to hypoxia (GO:0071456)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|VCB complex (GO:0030891)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CCTGATAAAACTGAATAAATC	0.294																																						dbGAP											0													43.0	45.0	45.0					10																	35333605		2201	4291	6492	-	-	-	SO:0001630	splice_region_variant	0			U83410	CCDS7179.1, CCDS73086.1	10p11.2	2011-05-24			ENSG00000108094	ENSG00000108094			2552	protein-coding gene	gene with protein product		603135				8681378	Standard	NM_003591		Approved		uc021ppa.1	Q13617	OTTHUMG00000017950	ENST00000374748.1:c.604-1G>A	10.37:g.35333605C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT95|B7Z6K8|D3DRY6|G3V1S2|O00200|Q5T2B6|Q9UNF9	Splice_Site	SNP	-	e8-1	ENST00000374748.1	37	c.661-1	CCDS7179.1	10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353839	0.82243	.	.	ENSG00000108094	ENST00000374751;ENST00000374748;ENST00000374746;ENST00000374749;ENST00000374754;ENST00000374742;ENST00000537177;ENST00000421317	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3973	0.94612	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL2	35373611	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.660000	0.90430	0.455000	0.32223	.	CUL2	-	-	ENSG00000108094		0.294	CUL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL2	HGNC	protein_coding	OTTHUMT00000047538.1	50	0.00	0	C	NM_003591	Intron	35333605	35333605	-1	no_errors	ENST00000537177	ensembl	human	known	69_37n	splice_site	37	21.28	10	SNP	1.000	T
CYS1	192668	genome.wustl.edu	37	2	10199055	10199055	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:10199055C>T	ENST00000381813.4	-	3	589	c.402G>A	c.(400-402)gaG>gaA	p.E134E	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	134						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CTGCCGGCCTCTCGGGCTTCT	0.647																																						dbGAP											0													23.0	23.0	23.0					2																	10199055		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.402G>A	2.37:g.10199055C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.E134	ENST00000381813.4	37	c.402	CCDS33145.1	2																																																																																			CYS1	-	NULL	ENSG00000205795		0.647	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYS1	HGNC	protein_coding	OTTHUMT00000323537.1	87	0.00	0	C			10199055	10199055	-1	no_errors	ENST00000381813	ensembl	human	known	69_37n	silent	42	33.33	21	SNP	0.001	T
CYS1	192668	genome.wustl.edu	37	2	10199055	10199055	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:10199055C>T	ENST00000381813.4	-	3	589	c.402G>A	c.(400-402)gaG>gaA	p.E134E	CYS1_ENST00000477304.1_5'UTR	NM_001037160.2	NP_001032237.1	Q717R9	CYS1_HUMAN	cystin 1	134						cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				large_intestine(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.166)|OV - Ovarian serous cystadenocarcinoma(76;0.227)		CTGCCGGCCTCTCGGGCTTCT	0.647																																						dbGAP											0													23.0	23.0	23.0					2																	10199055		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF544983, AA446394	CCDS33145.1	2p25.1	2012-10-02			ENSG00000205795	ENSG00000205795			18525	protein-coding gene	gene with protein product						12733055, 11854326	Standard	NM_001037160		Approved		uc002rag.2	Q717R9	OTTHUMG00000151703	ENST00000381813.4:c.402G>A	2.37:g.10199055C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.E134	ENST00000381813.4	37	c.402	CCDS33145.1	2																																																																																			CYS1	-	NULL	ENSG00000205795		0.647	CYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYS1	HGNC	protein_coding	OTTHUMT00000323537.1	73	0.00	0	C			10199055	10199055	-1	no_errors	ENST00000381813	ensembl	human	known	69_37n	silent	42	33.33	21	SNP	0.001	T
CYTH1	9267	genome.wustl.edu	37	17	76705782	76705782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:76705782C>A	ENST00000446868.3	-	2	125	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	CYTH1_ENST00000585509.1_5'UTR|CYTH1_ENST00000589297.1_5'UTR|CYTH1_ENST00000361101.4_Nonsense_Mutation_p.E19*|CYTH1_ENST00000591455.1_Nonsense_Mutation_p.E19*|CYTH1_ENST00000589296.1_Nonsense_Mutation_p.E19*			Q15438	CYH1_HUMAN	cytohesin 1	19					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCTCCAGTTCTTGACGCTCC	0.483																																						dbGAP											0													177.0	148.0	158.0					17																	76705782		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.55G>T	17.37:g.76705782C>A	ENSP00000389095:p.Glu19*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW7|B7Z1T4|Q9P123|Q9P124	Nonsense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E19*	ENST00000446868.3	37	c.55		17	.	.	.	.	.	.	.	.	.	.	C	37	6.347048	0.97494	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000392457;ENST00000262763;ENST00000434577;ENST00000416418	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	.	.	.	X	19;19;19;19;30;21	.	ENSP00000262763:E19X	E	-	1	0	CYTH1	74217377	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.196000	0.77805	2.601000	0.87937	0.655000	0.94253	GAA	CYTH1	-	NULL	ENSG00000108669		0.483	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	71	0.00	0	C	NM_004762		76705782	76705782	-1	no_errors	ENST00000361101	ensembl	human	known	69_37n	nonsense	46	28.12	18	SNP	1.000	A
CYTH1	9267	genome.wustl.edu	37	17	76705782	76705782	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:76705782C>A	ENST00000446868.3	-	2	125	c.55G>T	c.(55-57)Gaa>Taa	p.E19*	CYTH1_ENST00000585509.1_5'UTR|CYTH1_ENST00000589297.1_5'UTR|CYTH1_ENST00000361101.4_Nonsense_Mutation_p.E19*|CYTH1_ENST00000591455.1_Nonsense_Mutation_p.E19*|CYTH1_ENST00000589296.1_Nonsense_Mutation_p.E19*			Q15438	CYH1_HUMAN	cytohesin 1	19					establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						TTCTCCAGTTCTTGACGCTCC	0.483																																						dbGAP											0													177.0	148.0	158.0					17																	76705782		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.55G>T	17.37:g.76705782C>A	ENSP00000389095:p.Glu19*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFW7|B7Z1T4|Q9P123|Q9P124	Nonsense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E19*	ENST00000446868.3	37	c.55		17	.	.	.	.	.	.	.	.	.	.	C	37	6.347048	0.97494	.	.	ENSG00000108669	ENST00000446868;ENST00000361101;ENST00000392457;ENST00000262763;ENST00000434577;ENST00000416418	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	19.5343	0.95242	0.0:1.0:0.0:0.0	.	.	.	.	X	19;19;19;19;30;21	.	ENSP00000262763:E19X	E	-	1	0	CYTH1	74217377	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.196000	0.77805	2.601000	0.87937	0.655000	0.94253	GAA	CYTH1	-	NULL	ENSG00000108669		0.483	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CYTH1	HGNC	protein_coding	OTTHUMT00000317099.1	44	0.00	0	C	NM_004762		76705782	76705782	-1	no_errors	ENST00000361101	ensembl	human	known	69_37n	nonsense	46	28.12	18	SNP	1.000	A
DGAT1	8694	genome.wustl.edu	37	8	145541971	145541971	+	Missense_Mutation	SNP	G	G	C	rs138248019		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:145541971G>C	ENST00000332324.4	-	7	902	c.629C>G	c.(628-630)tCc>tGc	p.S210C	DGAT1_ENST00000531896.1_Missense_Mutation_p.S210C|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	210					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCGCGGTAGGAGAAGAGCTT	0.692																																						dbGAP											0													37.0	36.0	36.0					8																	145541971		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.629C>G	8.37:g.145541971G>C	ENSP00000332258:p.Ser210Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.S210C	ENST00000332324.4	37	c.629	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670745	0.67814	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.59083	0.29	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87654	0.2530	10	0.87932	D	0	-20.7587	16.5112	0.84286	0.0:0.0:1.0:0.0	.	210;210	E9PS80;O75907	.;DGAT1_HUMAN	C	210	ENSP00000332258:S210C	ENSP00000332258:S210C	S	-	2	0	DGAT1	145512779	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.313000	0.72844	2.494000	0.84150	0.455000	0.32223	TCC	DGAT1	-	pfam_MBOAT_fam	ENSG00000185000		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	38	0.00	0	G	NM_012079		145541971	145541971	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	C
DGAT1	8694	genome.wustl.edu	37	8	145541971	145541971	+	Missense_Mutation	SNP	G	G	C	rs138248019		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:145541971G>C	ENST00000332324.4	-	7	902	c.629C>G	c.(628-630)tCc>tGc	p.S210C	DGAT1_ENST00000531896.1_Missense_Mutation_p.S210C|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	210					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCGCGGTAGGAGAAGAGCTT	0.692																																						dbGAP											0													37.0	36.0	36.0					8																	145541971		2203	4295	6498	-	-	-	SO:0001583	missense	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.629C>G	8.37:g.145541971G>C	ENSP00000332258:p.Ser210Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.S210C	ENST00000332324.4	37	c.629	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670745	0.67814	.	.	ENSG00000185000	ENST00000332324;ENST00000526479;ENST00000531896	T	0.59083	0.29	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.82724	0.5099	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87654	0.2530	10	0.87932	D	0	-20.7587	16.5112	0.84286	0.0:0.0:1.0:0.0	.	210;210	E9PS80;O75907	.;DGAT1_HUMAN	C	210	ENSP00000332258:S210C	ENSP00000332258:S210C	S	-	2	0	DGAT1	145512779	1.000000	0.71417	1.000000	0.80357	0.204000	0.24138	6.313000	0.72844	2.494000	0.84150	0.455000	0.32223	TCC	DGAT1	-	pfam_MBOAT_fam	ENSG00000185000		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	35	0.00	0	G	NM_012079		145541971	145541971	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	C
DGAT1	8694	genome.wustl.edu	37	8	145541991	145541991	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:145541991G>A	ENST00000332324.4	-	7	882	c.609C>T	c.(607-609)atC>atT	p.I203I	DGAT1_ENST00000531896.1_Silent_p.I203I|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	203					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGAGGAAGAGGATGGTGTGCG	0.692																																						dbGAP											0													36.0	35.0	35.0					8																	145541991		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.609C>T	8.37:g.145541991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.I203	ENST00000332324.4	37	c.609	CCDS6420.1	8																																																																																			DGAT1	-	pfam_MBOAT_fam	ENSG00000185000		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	44	0.00	0	G	NM_012079		145541991	145541991	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	1.000	A
DGAT1	8694	genome.wustl.edu	37	8	145541991	145541991	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:145541991G>A	ENST00000332324.4	-	7	882	c.609C>T	c.(607-609)atC>atT	p.I203I	DGAT1_ENST00000531896.1_Silent_p.I203I|DGAT1_ENST00000527438.1_5'Flank	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	203					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGAGGAAGAGGATGGTGTGCG	0.692																																						dbGAP											0													36.0	35.0	35.0					8																	145541991		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.609C>T	8.37:g.145541991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.I203	ENST00000332324.4	37	c.609	CCDS6420.1	8																																																																																			DGAT1	-	pfam_MBOAT_fam	ENSG00000185000		0.692	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	38	0.00	0	G	NM_012079		145541991	145541991	-1	no_errors	ENST00000332324	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	1.000	A
DICER1	23405	genome.wustl.edu	37	14	95572024	95572024	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:95572024C>T	ENST00000526495.1	-	21	3375	c.3084G>A	c.(3082-3084)caG>caA	p.Q1028Q	DICER1_ENST00000393063.1_Silent_p.Q1028Q|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000343455.3_Silent_p.Q1028Q|DICER1_ENST00000527414.1_Silent_p.Q1028Q|DICER1_ENST00000541352.1_Silent_p.Q1028Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1028	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCTGTTTATTCTGCAGACTTT	0.333			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													62.0	54.0	57.0					14																	95572024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3084G>A	14.37:g.95572024C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.Q1028	ENST00000526495.1	37	c.3084	CCDS9931.1	14																																																																																			DICER1	-	pfam_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000100697		0.333	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	56	0.00	0	C			95572024	95572024	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	1.000	T
DICER1	23405	genome.wustl.edu	37	14	95572024	95572024	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:95572024C>T	ENST00000526495.1	-	21	3375	c.3084G>A	c.(3082-3084)caG>caA	p.Q1028Q	DICER1_ENST00000393063.1_Silent_p.Q1028Q|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000343455.3_Silent_p.Q1028Q|DICER1_ENST00000527414.1_Silent_p.Q1028Q|DICER1_ENST00000541352.1_Silent_p.Q1028Q			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1028	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCTGTTTATTCTGCAGACTTT	0.333			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													dbGAP	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													62.0	54.0	57.0					14																	95572024		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3084G>A	14.37:g.95572024C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.Q1028	ENST00000526495.1	37	c.3084	CCDS9931.1	14																																																																																			DICER1	-	pfam_PAZ,smart_PAZ,pfscan_PAZ	ENSG00000100697		0.333	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	46	0.00	0	C			95572024	95572024	-1	no_errors	ENST00000343455	ensembl	human	known	69_37n	silent	25	19.35	6	SNP	1.000	T
DIS3L2	129563	genome.wustl.edu	37	2	232952308	232952308	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:232952308G>A	ENST00000409307.1	+	5	478	c.478G>A	c.(478-480)Gac>Aac	p.D160N	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000325385.7_Missense_Mutation_p.D160N|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D160N|DIS3L2_ENST00000409401.3_Missense_Mutation_p.D160N|DIS3L2_ENST00000360410.4_Missense_Mutation_p.D160N					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAGCTATAATGACAGTCCTGA	0.463																																						dbGAP											0													83.0	87.0	86.0					2																	232952308		2005	4175	6180	-	-	-	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.478G>A	2.37:g.232952308G>A	ENSP00000386799:p.Asp160Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.D160N	ENST00000409307.1	37	c.478	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210006	0.79240	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000431466;ENST00000409307	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.65	4.74	0.60224	.	0.326426	0.28688	N	0.014465	T	0.27027	0.0662	L	0.29908	0.895	0.20307	N	0.999917	P;B	0.34462	0.454;0.324	B;B	0.34722	0.071;0.188	T	0.11494	-1.0585	10	0.19590	T	0.45	-12.3923	7.0865	0.25259	0.113:0.3061:0.581:0.0	.	160;160	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	N	160	ENSP00000273009:D160N;ENSP00000315569:D160N;ENSP00000353584:D160N;ENSP00000386594:D160N;ENSP00000386799:D160N	ENSP00000273009:D160N	D	+	1	0	DIS3L2	232660552	0.424000	0.25490	0.918000	0.36340	0.994000	0.84299	0.674000	0.25218	2.674000	0.91012	0.655000	0.94253	GAC	DIS3L2	-	NULL	ENSG00000144535		0.463	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	37	0.00	0	G	NM_152383		232952308	232952308	+1	no_errors	ENST00000325385	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.601	A
DIS3L2	129563	genome.wustl.edu	37	2	232952308	232952308	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:232952308G>A	ENST00000409307.1	+	5	478	c.478G>A	c.(478-480)Gac>Aac	p.D160N	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000325385.7_Missense_Mutation_p.D160N|DIS3L2_ENST00000273009.6_Missense_Mutation_p.D160N|DIS3L2_ENST00000409401.3_Missense_Mutation_p.D160N|DIS3L2_ENST00000360410.4_Missense_Mutation_p.D160N					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AAGCTATAATGACAGTCCTGA	0.463																																						dbGAP											0													83.0	87.0	86.0					2																	232952308		2005	4175	6180	-	-	-	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.478G>A	2.37:g.232952308G>A	ENSP00000386799:p.Asp160Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.D160N	ENST00000409307.1	37	c.478	CCDS42834.1	2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210006	0.79240	.	.	ENSG00000144535	ENST00000273009;ENST00000542873;ENST00000325385;ENST00000360410;ENST00000409401;ENST00000431466;ENST00000409307	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.65	4.74	0.60224	.	0.326426	0.28688	N	0.014465	T	0.27027	0.0662	L	0.29908	0.895	0.20307	N	0.999917	P;B	0.34462	0.454;0.324	B;B	0.34722	0.071;0.188	T	0.11494	-1.0585	10	0.19590	T	0.45	-12.3923	7.0865	0.25259	0.113:0.3061:0.581:0.0	.	160;160	Q8IYB7;Q8IYB7-4	DI3L2_HUMAN;.	N	160	ENSP00000273009:D160N;ENSP00000315569:D160N;ENSP00000353584:D160N;ENSP00000386594:D160N;ENSP00000386799:D160N	ENSP00000273009:D160N	D	+	1	0	DIS3L2	232660552	0.424000	0.25490	0.918000	0.36340	0.994000	0.84299	0.674000	0.25218	2.674000	0.91012	0.655000	0.94253	GAC	DIS3L2	-	NULL	ENSG00000144535		0.463	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	42	0.00	0	G	NM_152383		232952308	232952308	+1	no_errors	ENST00000325385	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	0.601	A
DIS3L2	129563	genome.wustl.edu	37	2	232995392	232995392	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:232995392G>C	ENST00000409307.1	+	6	665	c.665G>C	c.(664-666)aGa>aCa	p.R222T	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R222T|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R222T|DIS3L2_ENST00000409401.3_Missense_Mutation_p.R222T|DIS3L2_ENST00000360410.4_Missense_Mutation_p.E242Q					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CAAGACACAAGAGCTTTATCG	0.428																																						dbGAP											0													109.0	105.0	106.0					2																	232995392		1904	4121	6025	-	-	-	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.665G>C	2.37:g.232995392G>C	ENSP00000386799:p.Arg222Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R222T	ENST00000409307.1	37	c.665	CCDS42834.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.196033|2.196033	0.38806|0.38806	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000360410|ENST00000273009;ENST00000542873;ENST00000325385;ENST00000409401;ENST00000431466;ENST00000409307	T|T;T;T;T	0.38887|0.42900	1.11|1.78;1.78;0.96;1.78	5.29|5.29	4.42|4.42	0.53409|0.53409	.|.	.|0.464368	.|0.24020	.|N	.|0.042294	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;P	.|0.38078	.|0.002;0.617	.|B;B	.|0.37144	.|0.003;0.242	T|T	0.10314|0.10314	-1.0635|-1.0635	7|10	0.41790|0.16896	T|T	0.15|0.51	-6.4294|-6.4294	7.9266|7.9266	0.29878|0.29878	0.1787:0.0:0.8213:0.0|0.1787:0.0:0.8213:0.0	.|.	.|222;222	.|Q8IYB7;Q8IYB7-4	.|DI3L2_HUMAN;.	Q|T	242|222	ENSP00000353584:E242Q|ENSP00000273009:R222T;ENSP00000315569:R222T;ENSP00000386594:R222T;ENSP00000386799:R222T	ENSP00000353584:E242Q|ENSP00000273009:R222T	E|R	+|+	1|2	0|0	DIS3L2|DIS3L2	232703636|232703636	0.766000|0.766000	0.28496|0.28496	0.079000|0.079000	0.20413|0.20413	0.740000|0.740000	0.42216|0.42216	1.989000|1.989000	0.40707|0.40707	1.477000|1.477000	0.48234|0.48234	0.555000|0.555000	0.69702|0.69702	GAG|AGA	DIS3L2	-	NULL	ENSG00000144535		0.428	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	50	0.00	0	G	NM_152383		232995392	232995392	+1	no_errors	ENST00000325385	ensembl	human	known	69_37n	missense	24	34.21	13	SNP	0.271	C
DIS3L2	129563	genome.wustl.edu	37	2	232995392	232995392	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:232995392G>C	ENST00000409307.1	+	6	665	c.665G>C	c.(664-666)aGa>aCa	p.R222T	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000325385.7_Missense_Mutation_p.R222T|DIS3L2_ENST00000273009.6_Missense_Mutation_p.R222T|DIS3L2_ENST00000409401.3_Missense_Mutation_p.R222T|DIS3L2_ENST00000360410.4_Missense_Mutation_p.E242Q					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CAAGACACAAGAGCTTTATCG	0.428																																						dbGAP											0													109.0	105.0	106.0					2																	232995392		1904	4121	6025	-	-	-	SO:0001583	missense	0			BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.665G>C	2.37:g.232995392G>C	ENSP00000386799:p.Arg222Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.R222T	ENST00000409307.1	37	c.665	CCDS42834.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.196033|2.196033	0.38806|0.38806	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000360410|ENST00000273009;ENST00000542873;ENST00000325385;ENST00000409401;ENST00000431466;ENST00000409307	T|T;T;T;T	0.38887|0.42900	1.11|1.78;1.78;0.96;1.78	5.29|5.29	4.42|4.42	0.53409|0.53409	.|.	.|0.464368	.|0.24020	.|N	.|0.042294	T|T	0.15696|0.15696	0.0378|0.0378	N|N	0.02011|0.02011	-0.69|-0.69	0.09310|0.09310	N|N	1|1	.|B;P	.|0.38078	.|0.002;0.617	.|B;B	.|0.37144	.|0.003;0.242	T|T	0.10314|0.10314	-1.0635|-1.0635	7|10	0.41790|0.16896	T|T	0.15|0.51	-6.4294|-6.4294	7.9266|7.9266	0.29878|0.29878	0.1787:0.0:0.8213:0.0|0.1787:0.0:0.8213:0.0	.|.	.|222;222	.|Q8IYB7;Q8IYB7-4	.|DI3L2_HUMAN;.	Q|T	242|222	ENSP00000353584:E242Q|ENSP00000273009:R222T;ENSP00000315569:R222T;ENSP00000386594:R222T;ENSP00000386799:R222T	ENSP00000353584:E242Q|ENSP00000273009:R222T	E|R	+|+	1|2	0|0	DIS3L2|DIS3L2	232703636|232703636	0.766000|0.766000	0.28496|0.28496	0.079000|0.079000	0.20413|0.20413	0.740000|0.740000	0.42216|0.42216	1.989000|1.989000	0.40707|0.40707	1.477000|1.477000	0.48234|0.48234	0.555000|0.555000	0.69702|0.69702	GAG|AGA	DIS3L2	-	NULL	ENSG00000144535		0.428	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	DIS3L2	HGNC	protein_coding	OTTHUMT00000330988.1	51	0.00	0	G	NM_152383		232995392	232995392	+1	no_errors	ENST00000325385	ensembl	human	known	69_37n	missense	24	34.21	13	SNP	0.271	C
DISC1	27185	genome.wustl.edu	37	1	231935862	231935862	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:231935862G>C	ENST00000602281.1	+	8	1751	c.1698G>C	c.(1696-1698)atG>atC	p.M566I	DISC1_ENST00000366633.3_Missense_Mutation_p.M566I|DISC1_ENST00000366636.4_Missense_Mutation_p.M566I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.M566I|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.M566I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	566	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGTGTGTATGAGTGAGAAAT	0.433																																						dbGAP											0													100.0	95.0	97.0					1																	231935862		2196	4292	6488	-	-	-	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1698G>C	1.37:g.231935862G>C	ENSP00000473425:p.Met566Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.M566I	ENST00000602281.1	37	c.1698	CCDS59205.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.579|4.579	0.107490|0.107490	0.08780|0.08780	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633|ENST00000295051	T;T;T;T|.	0.76839|.	-1.05;-1.05;-1.05;-1.05|.	4.88|4.88	0.241|0.241	0.15494|0.15494	.|.	0.482808|.	0.20662|.	N|.	0.088007|.	T|.	0.53029|.	0.1771|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B;B;P;P;B;P;P;P;B;B;B;B;P|.	0.35774|.	0.005;0.103;0.024;0.458;0.458;0.103;0.458;0.458;0.519;0.228;0.228;0.228;0.228;0.519|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.35073|.	0.004;0.085;0.006;0.137;0.137;0.085;0.083;0.137;0.122;0.083;0.083;0.083;0.083;0.195|.	T|.	0.46133|.	-0.9213|.	10|.	0.36615|.	T|.	0.2|.	-1.8594|-1.8594	5.9744|5.9744	0.19371|0.19371	0.2333:0.2421:0.5246:0.0|0.2333:0.2421:0.5246:0.0	.|.	598;444;598;566;566;444;566;566;566;566;566;566;566;566|.	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P0B6;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3|.	.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.|.	I|S	566;566;566;598;444;566;566|548	ENSP00000403888:M566I;ENSP00000355596:M566I;ENSP00000443996:M566I;ENSP00000355593:M566I|.	ENSP00000355593:M566I|.	M|X	+|+	3|2	0|2	DISC1|DISC1	230002485|230002485	0.883000|0.883000	0.30277|0.30277	0.868000|0.868000	0.34077|0.34077	0.689000|0.689000	0.40095|0.40095	0.260000|0.260000	0.18424|0.18424	0.482000|0.482000	0.27582|0.27582	0.644000|0.644000	0.83932|0.83932	ATG|TGA	DISC1	-	superfamily_Prefoldin	ENSG00000162946		0.433	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	65	0.00	0	G	NM_018662		231935862	231935862	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.911	C
DISC1	27185	genome.wustl.edu	37	1	231935862	231935862	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:231935862G>C	ENST00000602281.1	+	8	1751	c.1698G>C	c.(1696-1698)atG>atC	p.M566I	DISC1_ENST00000366633.3_Missense_Mutation_p.M566I|DISC1_ENST00000366636.4_Missense_Mutation_p.M566I|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.M566I|DISC1_ENST00000539444.1_Intron|DISC1_ENST00000537876.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000439617.2_Missense_Mutation_p.M566I	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	566	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				AGGTGTGTATGAGTGAGAAAT	0.433																																						dbGAP											0													100.0	95.0	97.0					1																	231935862		2196	4292	6488	-	-	-	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1698G>C	1.37:g.231935862G>C	ENSP00000473425:p.Met566Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.M566I	ENST00000602281.1	37	c.1698	CCDS59205.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.579|4.579	0.107490|0.107490	0.08780|0.08780	.|.	.|.	ENSG00000162946|ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000366633|ENST00000295051	T;T;T;T|.	0.76839|.	-1.05;-1.05;-1.05;-1.05|.	4.88|4.88	0.241|0.241	0.15494|0.15494	.|.	0.482808|.	0.20662|.	N|.	0.088007|.	T|.	0.53029|.	0.1771|.	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	B;B;B;P;P;B;P;P;P;B;B;B;B;P|.	0.35774|.	0.005;0.103;0.024;0.458;0.458;0.103;0.458;0.458;0.519;0.228;0.228;0.228;0.228;0.519|.	B;B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.35073|.	0.004;0.085;0.006;0.137;0.137;0.085;0.083;0.137;0.122;0.083;0.083;0.083;0.083;0.195|.	T|.	0.46133|.	-0.9213|.	10|.	0.36615|.	T|.	0.2|.	-1.8594|-1.8594	5.9744|5.9744	0.19371|0.19371	0.2333:0.2421:0.5246:0.0|0.2333:0.2421:0.5246:0.0	.|.	598;444;598;566;566;444;566;566;566;566;566;566;566;566|.	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;F5H1F1;C4P0A4;A6NLH2;C4P0B6;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3|.	.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.|.	I|S	566;566;566;598;444;566;566|548	ENSP00000403888:M566I;ENSP00000355596:M566I;ENSP00000443996:M566I;ENSP00000355593:M566I|.	ENSP00000355593:M566I|.	M|X	+|+	3|2	0|2	DISC1|DISC1	230002485|230002485	0.883000|0.883000	0.30277|0.30277	0.868000|0.868000	0.34077|0.34077	0.689000|0.689000	0.40095|0.40095	0.260000|0.260000	0.18424|0.18424	0.482000|0.482000	0.27582|0.27582	0.644000|0.644000	0.83932|0.83932	ATG|TGA	DISC1	-	superfamily_Prefoldin	ENSG00000162946		0.433	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1	56	0.00	0	G	NM_018662		231935862	231935862	+1	no_errors	ENST00000439617	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	0.911	C
DLG1	1739	genome.wustl.edu	37	3	196842906	196842906	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:196842906G>C	ENST00000419354.1	-	14	1720	c.1434C>G	c.(1432-1434)ttC>ttG	p.F478L	DLG1_ENST00000443183.1_Missense_Mutation_p.F362L|DLG1_ENST00000346964.2_Missense_Mutation_p.F478L|DLG1_ENST00000314062.3_Missense_Mutation_p.F427L|DLG1_ENST00000452595.1_Missense_Mutation_p.F362L|DLG1_ENST00000422288.1_Missense_Mutation_p.F427L|DLG1_ENST00000448528.2_Missense_Mutation_p.F478L|DLG1_ENST00000357674.4_Missense_Mutation_p.F445L|DLG1_ENST00000450955.1_Missense_Mutation_p.F445L|DLG1_ENST00000392382.2_Missense_Mutation_p.F445L			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	478	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-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;0.0148)		CTACAATGTTGAAACCAAGGC	0.378																																						dbGAP											0													110.0	113.0	112.0					3																	196842906		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1434C>G	3.37:g.196842906G>C	ENSP00000407531:p.Phe478Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.F478L	ENST00000419354.1	37	c.1434	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481033	0.84747	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.62	3.8	0.43715	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.45228	1.405	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.957;0.974;0.999;0.999;1.0;0.995;1.0	D;D;D;D;D;D;D	0.91635	0.936;0.928;0.999;0.999;0.999;0.934;0.999	T	0.60172	-0.7315	10	0.62326	D	0.03	.	11.2657	0.49110	0.1489:0.0:0.8511:0.0	.	445;362;362;362;445;478;478	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	L	478;478;445;478;427;478;362;427;478;362;445;445	ENSP00000345731:F478L;ENSP00000350303:F445L;ENSP00000321087:F427L;ENSP00000407531:F478L;ENSP00000398939:F362L;ENSP00000413238:F427L;ENSP00000391732:F478L;ENSP00000396658:F362L;ENSP00000376187:F445L;ENSP00000411278:F445L	ENSP00000321087:F427L	F	-	3	2	DLG1	198327303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.826000	0.55738	1.357000	0.45904	0.591000	0.81541	TTC	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	22	0.00	0	G	NM_004087		196842906	196842906	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	C
DLG1	1739	genome.wustl.edu	37	3	196842906	196842906	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:196842906G>C	ENST00000419354.1	-	14	1720	c.1434C>G	c.(1432-1434)ttC>ttG	p.F478L	DLG1_ENST00000443183.1_Missense_Mutation_p.F362L|DLG1_ENST00000346964.2_Missense_Mutation_p.F478L|DLG1_ENST00000314062.3_Missense_Mutation_p.F427L|DLG1_ENST00000452595.1_Missense_Mutation_p.F362L|DLG1_ENST00000422288.1_Missense_Mutation_p.F427L|DLG1_ENST00000448528.2_Missense_Mutation_p.F478L|DLG1_ENST00000357674.4_Missense_Mutation_p.F445L|DLG1_ENST00000450955.1_Missense_Mutation_p.F445L|DLG1_ENST00000392382.2_Missense_Mutation_p.F445L			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	478	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-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;0.0148)		CTACAATGTTGAAACCAAGGC	0.378																																						dbGAP											0													110.0	113.0	112.0					3																	196842906		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1434C>G	3.37:g.196842906G>C	ENSP00000407531:p.Phe478Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.F478L	ENST00000419354.1	37	c.1434	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481033	0.84747	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	T;T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.62	3.8	0.43715	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.58366	0.2117	L	0.45228	1.405	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.957;0.974;0.999;0.999;1.0;0.995;1.0	D;D;D;D;D;D;D	0.91635	0.936;0.928;0.999;0.999;0.999;0.934;0.999	T	0.60172	-0.7315	10	0.62326	D	0.03	.	11.2657	0.49110	0.1489:0.0:0.8511:0.0	.	445;362;362;362;445;478;478	Q12959-4;E9PG21;E7EWL7;B4DGU1;Q12959-3;Q12959;Q12959-2	.;.;.;.;.;DLG1_HUMAN;.	L	478;478;445;478;427;478;362;427;478;362;445;445	ENSP00000345731:F478L;ENSP00000350303:F445L;ENSP00000321087:F427L;ENSP00000407531:F478L;ENSP00000398939:F362L;ENSP00000413238:F427L;ENSP00000391732:F478L;ENSP00000396658:F362L;ENSP00000376187:F445L;ENSP00000411278:F445L	ENSP00000321087:F427L	F	-	3	2	DLG1	198327303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.826000	0.55738	1.357000	0.45904	0.591000	0.81541	TTC	DLG1	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ	ENSG00000075711		0.378	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	27	0.00	0	G	NM_004087		196842906	196842906	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	12	52.00	13	SNP	1.000	C
DMXL1	1657	genome.wustl.edu	37	5	118529541	118529541	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:118529541C>G	ENST00000311085.8	+	30	7413	c.7333C>G	c.(7333-7335)Caa>Gaa	p.Q2445E	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2445E	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2445										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCCTCTTCTCAAAGTAGAGC	0.338																																						dbGAP											0													123.0	127.0	125.0					5																	118529541		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7333C>G	5.37:g.118529541C>G	ENSP00000309690:p.Gln2445Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2445E	ENST00000311085.8	37	c.7333	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081126	0.20309	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.08720	3.07;3.06	5.26	5.26	0.73747	.	0.166092	0.56097	D	0.000035	T	0.09069	0.0224	L	0.40543	1.245	0.46774	D	0.999194	B;B	0.15719	0.014;0.002	B;B	0.13407	0.009;0.003	T	0.20438	-1.0275	10	0.10111	T	0.7	-5.067	18.8557	0.92251	0.0:1.0:0.0:0.0	.	2445;2445	F5H269;Q9Y485	.;DMXL1_HUMAN	E	2445	ENSP00000309690:Q2445E;ENSP00000439479:Q2445E	ENSP00000309690:Q2445E	Q	+	1	0	DMXL1	118557440	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.099000	0.50267	2.456000	0.83038	0.557000	0.71058	CAA	DMXL1	-	NULL	ENSG00000172869		0.338	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	77	0.00	0	C	NM_005509		118529541	118529541	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	G
DMXL1	1657	genome.wustl.edu	37	5	118529541	118529541	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:118529541C>G	ENST00000311085.8	+	30	7413	c.7333C>G	c.(7333-7335)Caa>Gaa	p.Q2445E	DMXL1_ENST00000539542.1_Missense_Mutation_p.Q2445E	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2445										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACCCTCTTCTCAAAGTAGAGC	0.338																																						dbGAP											0													123.0	127.0	125.0					5																	118529541		2202	4299	6501	-	-	-	SO:0001583	missense	0			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7333C>G	5.37:g.118529541C>G	ENSP00000309690:p.Gln2445Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q2445E	ENST00000311085.8	37	c.7333	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	C	9.413	1.081126	0.20309	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.08720	3.07;3.06	5.26	5.26	0.73747	.	0.166092	0.56097	D	0.000035	T	0.09069	0.0224	L	0.40543	1.245	0.46774	D	0.999194	B;B	0.15719	0.014;0.002	B;B	0.13407	0.009;0.003	T	0.20438	-1.0275	10	0.10111	T	0.7	-5.067	18.8557	0.92251	0.0:1.0:0.0:0.0	.	2445;2445	F5H269;Q9Y485	.;DMXL1_HUMAN	E	2445	ENSP00000309690:Q2445E;ENSP00000439479:Q2445E	ENSP00000309690:Q2445E	Q	+	1	0	DMXL1	118557440	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	3.099000	0.50267	2.456000	0.83038	0.557000	0.71058	CAA	DMXL1	-	NULL	ENSG00000172869		0.338	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	73	0.00	0	C	NM_005509		118529541	118529541	+1	no_errors	ENST00000539542	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	G
DMXL2	23312	genome.wustl.edu	37	15	51828435	51828435	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:51828435T>G	ENST00000251076.5	-	12	2529	c.2242A>C	c.(2242-2244)Att>Ctt	p.I748L	DMXL2_ENST00000543779.2_Missense_Mutation_p.I748L|DMXL2_ENST00000449909.3_Missense_Mutation_p.I748L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	748						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)		AAAGAGTTAATTCGAGCCAAT	0.403																																						dbGAP											0													172.0	157.0	162.0					15																	51828435		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.2242A>C	15.37:g.51828435T>G	ENSP00000251076:p.Ile748Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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.I748L	ENST00000251076.5	37	c.2242	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709641	0.68730	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.38887	1.11;1.11;1.11	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.56340	1.77	0.31665	N	0.64514	D;D;D	0.69078	0.997;0.985;0.969	D;D;D	0.80764	0.994;0.952;0.926	T	0.67593	-0.5631	10	0.66056	D	0.02	.	15.4046	0.74868	0.0:0.0:0.0:1.0	.	748;748;748	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	L	748	ENSP00000251076:I748L;ENSP00000441858:I748L;ENSP00000400855:I748L	ENSP00000251076:I748L	I	-	1	0	DMXL2	49615727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.030000	0.59900	0.533000	0.62120	ATT	DMXL2	-	smart_WD40_repeat	ENSG00000104093		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	39	0.00	0	T	NM_015263		51828435	51828435	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	1.000	G
DMXL2	23312	genome.wustl.edu	37	15	51828435	51828435	+	Missense_Mutation	SNP	T	T	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:51828435T>G	ENST00000251076.5	-	12	2529	c.2242A>C	c.(2242-2244)Att>Ctt	p.I748L	DMXL2_ENST00000543779.2_Missense_Mutation_p.I748L|DMXL2_ENST00000449909.3_Missense_Mutation_p.I748L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	748						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)		AAAGAGTTAATTCGAGCCAAT	0.403																																						dbGAP											0													172.0	157.0	162.0					15																	51828435		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.2242A>C	15.37:g.51828435T>G	ENSP00000251076:p.Ile748Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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.I748L	ENST00000251076.5	37	c.2242	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709641	0.68730	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.38887	1.11;1.11;1.11	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	L	0.56340	1.77	0.31665	N	0.64514	D;D;D	0.69078	0.997;0.985;0.969	D;D;D	0.80764	0.994;0.952;0.926	T	0.67593	-0.5631	10	0.66056	D	0.02	.	15.4046	0.74868	0.0:0.0:0.0:1.0	.	748;748;748	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	L	748	ENSP00000251076:I748L;ENSP00000441858:I748L;ENSP00000400855:I748L	ENSP00000251076:I748L	I	-	1	0	DMXL2	49615727	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.030000	0.59900	0.533000	0.62120	ATT	DMXL2	-	smart_WD40_repeat	ENSG00000104093		0.403	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	52	0.00	0	T	NM_015263		51828435	51828435	-1	no_errors	ENST00000543779	ensembl	human	known	69_37n	missense	28	31.71	13	SNP	1.000	G
DNAH1	25981	genome.wustl.edu	37	3	52402819	52402819	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:52402819A>G	ENST00000420323.2	+	37	6089	c.5828A>G	c.(5827-5829)aAg>aGg	p.K1943R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1943	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAACAAGAAGTGGTACATG	0.577																																						dbGAP											0													144.0	150.0	148.0					3																	52402819		2072	4213	6285	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5828A>G	3.37:g.52402819A>G	ENSP00000401514:p.Lys1943Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.K1943R	ENST00000420323.2	37	c.5828	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740307	0.49045	.	.	ENSG00000114841	ENST00000420323	T	0.56444	0.46	4.93	3.78	0.43462	.	0.000000	0.46145	D	0.000306	T	0.38825	0.1055	L	0.31120	0.905	0.45261	D	0.998267	B	0.20052	0.041	B	0.25405	0.06	T	0.19192	-1.0313	10	0.44086	T	0.13	.	7.9129	0.29802	0.8412:0.0:0.1588:0.0	.	1943	C9JXH6	.	R	1943	ENSP00000401514:K1943R	ENSP00000401514:K1943R	K	+	2	0	DNAH1	52377859	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.216000	0.58540	0.918000	0.36919	0.460000	0.39030	AAG	DNAH1	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000114841		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	67	0.00	0	A	NM_015512		52402819	52402819	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
DNAH1	25981	genome.wustl.edu	37	3	52402819	52402819	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:52402819A>G	ENST00000420323.2	+	37	6089	c.5828A>G	c.(5827-5829)aAg>aGg	p.K1943R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1943	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAACAAGAAGTGGTACATG	0.577																																						dbGAP											0													144.0	150.0	148.0					3																	52402819		2072	4213	6285	-	-	-	SO:0001583	missense	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.5828A>G	3.37:g.52402819A>G	ENSP00000401514:p.Lys1943Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.K1943R	ENST00000420323.2	37	c.5828	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	A	15.12	2.740307	0.49045	.	.	ENSG00000114841	ENST00000420323	T	0.56444	0.46	4.93	3.78	0.43462	.	0.000000	0.46145	D	0.000306	T	0.38825	0.1055	L	0.31120	0.905	0.45261	D	0.998267	B	0.20052	0.041	B	0.25405	0.06	T	0.19192	-1.0313	10	0.44086	T	0.13	.	7.9129	0.29802	0.8412:0.0:0.1588:0.0	.	1943	C9JXH6	.	R	1943	ENSP00000401514:K1943R	ENSP00000401514:K1943R	K	+	2	0	DNAH1	52377859	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.216000	0.58540	0.918000	0.36919	0.460000	0.39030	AAG	DNAH1	-	pfam_ATPase_dyneun-rel_AAA	ENSG00000114841		0.577	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	49	0.00	0	A	NM_015512		52402819	52402819	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	1.000	G
DNAH3	55567	genome.wustl.edu	37	16	21078624	21078624	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:21078624C>T	ENST00000261383.3	-	24	3497	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	DNAH3_ENST00000415178.1_Silent_p.K1166K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1166	Stem. {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)	p.K1166N(2)		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)		ATAGTCTCTTCTTCTCCAAGT	0.438																																						dbGAP											2	Substitution - Missense(2)	lung(2)											82.0	84.0	83.0					16																	21078624		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.3498G>A	16.37:g.21078624C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	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.K1166	ENST00000261383.3	37	c.3498	CCDS10594.1	16																																																																																			DNAH3	-	pfam_Dynein_heavy_dom-2	ENSG00000158486		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	47	0.00	0	C	NM_017539		21078624	21078624	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	1.000	T
DNAH3	55567	genome.wustl.edu	37	16	21078624	21078624	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:21078624C>T	ENST00000261383.3	-	24	3497	c.3498G>A	c.(3496-3498)aaG>aaA	p.K1166K	DNAH3_ENST00000415178.1_Silent_p.K1166K	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1166	Stem. {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)	p.K1166N(2)		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)		ATAGTCTCTTCTTCTCCAAGT	0.438																																						dbGAP											2	Substitution - Missense(2)	lung(2)											82.0	84.0	83.0					16																	21078624		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.3498G>A	16.37:g.21078624C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	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.K1166	ENST00000261383.3	37	c.3498	CCDS10594.1	16																																																																																			DNAH3	-	pfam_Dynein_heavy_dom-2	ENSG00000158486		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	HGNC	protein_coding	OTTHUMT00000207361.1	42	0.00	0	C	NM_017539		21078624	21078624	-1	no_errors	ENST00000261383	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	1.000	T
DNAJB12	54788	genome.wustl.edu	37	10	74100860	74100860	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:74100860C>T	ENST00000444643.2	-	4	858	c.526G>A	c.(526-528)Gac>Aac	p.D176N	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Missense_Mutation_p.D210N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.D210N			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	176	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGGCTCTTGTCATCGCCGAAC	0.587																																						dbGAP											0													73.0	65.0	68.0					10																	74100860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.526G>A	10.37:g.74100860C>T	ENSP00000403313:p.Asp176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7I3|Q9H6H0	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.D210N	ENST00000444643.2	37	c.628		10	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857435	0.71834	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.73047	-0.71;-0.71;-0.71	5.48	5.48	0.80851	Heat shock protein DnaJ, N-terminal (2);	0.046874	0.85682	D	0.000000	T	0.68016	0.2955	L	0.49778	1.585	0.52501	D	0.999951	P;B	0.43094	0.799;0.363	B;B	0.39531	0.302;0.118	T	0.69472	-0.5136	10	0.41790	T	0.15	-19.4048	19.4137	0.94687	0.0:1.0:0.0:0.0	.	176;176	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	N	210;210;176	ENSP00000345575:D210N;ENSP00000378363:D210N;ENSP00000403313:D176N	ENSP00000345575:D210N	D	-	1	0	DNAJB12	73770866	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	7.818000	0.86416	2.580000	0.87095	0.650000	0.86243	GAC	DNAJB12	-	superfamily_DnaJ_N,prints_Hsp_DnaJ	ENSG00000148719		0.587	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	65	0.00	0	C			74100860	74100860	-1	no_errors	ENST00000338820	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	1.000	T
DNAJB12	54788	genome.wustl.edu	37	10	74100860	74100860	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:74100860C>T	ENST00000444643.2	-	4	858	c.526G>A	c.(526-528)Gac>Aac	p.D176N	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Missense_Mutation_p.D210N|DNAJB12_ENST00000394903.2_Missense_Mutation_p.D210N			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	176	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						TGGCTCTTGTCATCGCCGAAC	0.587																																						dbGAP											0													73.0	65.0	68.0					10																	74100860		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.526G>A	10.37:g.74100860C>T	ENSP00000403313:p.Asp176Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z7I3|Q9H6H0	Missense_Mutation	SNP	pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N	p.D210N	ENST00000444643.2	37	c.628		10	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857435	0.71834	.	.	ENSG00000148719	ENST00000338820;ENST00000394903;ENST00000444643	T;T;T	0.73047	-0.71;-0.71;-0.71	5.48	5.48	0.80851	Heat shock protein DnaJ, N-terminal (2);	0.046874	0.85682	D	0.000000	T	0.68016	0.2955	L	0.49778	1.585	0.52501	D	0.999951	P;B	0.43094	0.799;0.363	B;B	0.39531	0.302;0.118	T	0.69472	-0.5136	10	0.41790	T	0.15	-19.4048	19.4137	0.94687	0.0:1.0:0.0:0.0	.	176;176	Q9NXW2-2;Q9NXW2	.;DJB12_HUMAN	N	210;210;176	ENSP00000345575:D210N;ENSP00000378363:D210N;ENSP00000403313:D176N	ENSP00000345575:D210N	D	-	1	0	DNAJB12	73770866	1.000000	0.71417	0.999000	0.59377	0.779000	0.44077	7.818000	0.86416	2.580000	0.87095	0.650000	0.86243	GAC	DNAJB12	-	superfamily_DnaJ_N,prints_Hsp_DnaJ	ENSG00000148719		0.587	DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	DNAJB12	HGNC	protein_coding	OTTHUMT00000048581.2	62	0.00	0	C			74100860	74100860	-1	no_errors	ENST00000338820	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	1.000	T
DNASE1L3	1776	genome.wustl.edu	37	3	58183646	58183646	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:58183646C>G	ENST00000394549.2	-	6	922	c.606G>C	c.(604-606)tgG>tgC	p.W202C	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.W202C|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.W202C|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.W172C	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	202					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGATGTTCTTCCAGGCCTTCT	0.517																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	dbGAP											0													109.0	102.0	104.0					3																	58183646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.606G>C	3.37:g.58183646C>G	ENSP00000378053:p.Trp202Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.W202C	ENST00000394549.2	37	c.606	CCDS2886.1	3	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540721	0.85917	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.25	5.25	0.73442	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000001	T	0.77274	0.4106	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82796	-0.0280	10	0.87932	D	0	.	19.0335	0.92967	0.0:1.0:0.0:0.0	.	172;202;202	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	C	172;202;202;202;76;202	ENSP00000419052:W172C;ENSP00000316193:W202C;ENSP00000417047:W202C;ENSP00000417976:W76C;ENSP00000378053:W202C	ENSP00000316193:W202C	W	-	3	0	DNASE1L3	58158686	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.651000	0.83577	2.738000	0.93877	0.591000	0.81541	TGG	DNASE1L3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	ENSG00000163687		0.517	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1	87	0.00	0	C	NM_004944		58183646	58183646	-1	no_errors	ENST00000318316	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	G
DNASE1L3	1776	genome.wustl.edu	37	3	58183646	58183646	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:58183646C>G	ENST00000394549.2	-	6	922	c.606G>C	c.(604-606)tgG>tgC	p.W202C	DNASE1L3_ENST00000483681.1_Missense_Mutation_p.W202C|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.W202C|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.W172C	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	202					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGATGTTCTTCCAGGCCTTCT	0.517																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)	dbGAP											0													109.0	102.0	104.0					3																	58183646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.606G>C	3.37:g.58183646C>G	ENSP00000378053:p.Trp202Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8B1|B7Z707|O75803	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.W202C	ENST00000394549.2	37	c.606	CCDS2886.1	3	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540721	0.85917	.	.	ENSG00000163687	ENST00000486455;ENST00000450710;ENST00000318316;ENST00000483681;ENST00000477209;ENST00000394549	T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67	5.25	5.25	0.73442	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.64402	D	0.000001	T	0.77274	0.4106	M	0.93106	3.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82796	-0.0280	10	0.87932	D	0	.	19.0335	0.92967	0.0:1.0:0.0:0.0	.	172;202;202	B7Z707;E9PES0;Q13609	.;.;DNSL3_HUMAN	C	172;202;202;202;76;202	ENSP00000419052:W172C;ENSP00000316193:W202C;ENSP00000417047:W202C;ENSP00000417976:W76C;ENSP00000378053:W202C	ENSP00000316193:W202C	W	-	3	0	DNASE1L3	58158686	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.651000	0.83577	2.738000	0.93877	0.591000	0.81541	TGG	DNASE1L3	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	ENSG00000163687		0.517	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	HGNC	protein_coding	OTTHUMT00000353533.1	60	0.00	0	C	NM_004944		58183646	58183646	-1	no_errors	ENST00000318316	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	G
DNER	92737	genome.wustl.edu	37	2	230456533	230456535	+	In_Frame_Del	DEL	GCT	GCT	-	rs376000556	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:230456533_230456535delGCT	ENST00000341772.4	-	2	480_482	c.346_348delAGC	c.(346-348)agcdel	p.S116del		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	116	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Interaction with NOTCH1. {ECO:0000250}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|glial cell differentiation (GO:0010001)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|skeletal muscle fiber development (GO:0048741)|synapse assembly (GO:0007416)	dendrite (GO:0030425)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|clathrin binding (GO:0030276)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTAGCCATCgctgctgctgctg	0.532																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AY358891	CCDS33390.1	2q36.3	2006-10-26			ENSG00000187957	ENSG00000187957			24456	protein-coding gene	gene with protein product		607299				11950833, 11997712	Standard	NM_139072		Approved	UNQ26, bet	uc002vpv.3	Q8NFT8	OTTHUMG00000153637	ENST00000341772.4:c.346_348delAGC	2.37:g.230456542_230456544delGCT	ENSP00000345229:p.Ser116del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP39|Q53R88|Q53TP7|Q53TQ5|Q8IYT0|Q8TB42|Q9NTF1|Q9UDM2	In_Frame_Del	DEL	pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.S116in_frame_del	ENST00000341772.4	37	c.348_346	CCDS33390.1	2																																																																																			DNER	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000187957		0.532	DNER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNER	HGNC	protein_coding	OTTHUMT00000331902.1	50	0.00	0	GCT	NM_139072		230456533	230456535	-1	no_errors	ENST00000341772	ensembl	human	known	69_37n	in_frame_del	27	10.00	3	DEL	0.003:0.004:0.006	-
DNM1	1759	genome.wustl.edu	37	9	130981478	130981478	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:130981478C>T	ENST00000372923.3	+	4	628	c.536C>T	c.(535-537)tCt>tTt	p.S179F	DNM1_ENST00000475805.1_Missense_Mutation_p.S179F|DNM1_ENST00000341179.7_Missense_Mutation_p.S179F|DNM1_ENST00000393594.3_Missense_Mutation_p.S179F|DNM1_ENST00000486160.1_Missense_Mutation_p.S179F	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	179	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCCGCCAACTCTGACCTGGCC	0.607																																					GBM(113;146 1575 2722 28670 29921)	dbGAP											0													103.0	98.0	100.0					9																	130981478		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.536C>T	9.37:g.130981478C>T	ENSP00000362014:p.Ser179Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.S179F	ENST00000372923.3	37	c.536	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.103408	0.94245	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.42	5.42	0.78866	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.998	D	0.98920	1.0783	10	0.66056	D	0.02	-12.6399	19.2078	0.93739	0.0:1.0:0.0:0.0	.	179;179;179	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	F	179;179;179;174;179;179	ENSP00000419225:S179F;ENSP00000345680:S179F;ENSP00000362014:S179F;ENSP00000377219:S179F;ENSP00000420045:S179F	ENSP00000345680:S179F	S	+	2	0	DNM1	130021299	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	6.051000	0.71072	2.532000	0.85374	0.462000	0.41574	TCT	DNM1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	ENSG00000106976		0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	32	0.00	0	C	NM_004408		130981478	130981478	+1	no_errors	ENST00000372923	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	T
DNM1	1759	genome.wustl.edu	37	9	130981478	130981478	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:130981478C>T	ENST00000372923.3	+	4	628	c.536C>T	c.(535-537)tCt>tTt	p.S179F	DNM1_ENST00000475805.1_Missense_Mutation_p.S179F|DNM1_ENST00000341179.7_Missense_Mutation_p.S179F|DNM1_ENST00000393594.3_Missense_Mutation_p.S179F|DNM1_ENST00000486160.1_Missense_Mutation_p.S179F	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	179	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCCGCCAACTCTGACCTGGCC	0.607																																					GBM(113;146 1575 2722 28670 29921)	dbGAP											0													103.0	98.0	100.0					9																	130981478		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.536C>T	9.37:g.130981478C>T	ENSP00000362014:p.Ser179Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin	p.S179F	ENST00000372923.3	37	c.536	CCDS6895.1	9	.	.	.	.	.	.	.	.	.	.	C	31	5.103408	0.94245	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2;-4.2	5.42	5.42	0.78866	Dynamin, GTPase domain (2);	0.000000	0.85682	D	0.000000	D	0.98239	0.9417	M	0.83603	2.65	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.98;0.998	D	0.98920	1.0783	10	0.66056	D	0.02	-12.6399	19.2078	0.93739	0.0:1.0:0.0:0.0	.	179;179;179	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	F	179;179;179;174;179;179	ENSP00000419225:S179F;ENSP00000345680:S179F;ENSP00000362014:S179F;ENSP00000377219:S179F;ENSP00000420045:S179F	ENSP00000345680:S179F	S	+	2	0	DNM1	130021299	1.000000	0.71417	0.993000	0.49108	0.917000	0.54804	6.051000	0.71072	2.532000	0.85374	0.462000	0.41574	TCT	DNM1	-	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	ENSG00000106976		0.607	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DNM1	HGNC	protein_coding	OTTHUMT00000054367.1	30	0.00	0	C	NM_004408		130981478	130981478	+1	no_errors	ENST00000372923	ensembl	human	known	69_37n	missense	17	32.00	8	SNP	1.000	T
DOCK4	9732	genome.wustl.edu	37	7	111580176	111580176	+	Silent	SNP	C	C	T	rs199869959		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:111580176C>T	ENST00000437633.1	-	11	1222	c.966G>A	c.(964-966)ctG>ctA	p.L322L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.L322L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTATACTTTCAGAATGAGGT	0.498													C|||	0	0.0	0.0	0.0	5008	,	,		20528	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													125.0	128.0	127.0					7																	111580176		1964	4163	6127	-	-	-	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.966G>A	7.37:g.111580176C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Silent	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.L322	ENST00000437633.1	37	c.966	CCDS47688.1	7																																																																																			DOCK4	-	NULL	ENSG00000128512		0.498	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	53	0.00	0	C	NM_014705		111580176	111580176	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	0.975	T
DOCK4	9732	genome.wustl.edu	37	7	111580176	111580176	+	Silent	SNP	C	C	T	rs199869959		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:111580176C>T	ENST00000437633.1	-	11	1222	c.966G>A	c.(964-966)ctG>ctA	p.L322L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000428084.1_Silent_p.L322L	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	322					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGTATACTTTCAGAATGAGGT	0.498													C|||	0	0.0	0.0	0.0	5008	,	,		20528	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													125.0	128.0	127.0					7																	111580176		1964	4163	6127	-	-	-	SO:0001819	synonymous_variant	0				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.966G>A	7.37:g.111580176C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14584|O94824|Q8NB45	Silent	SNP	pfam_DOCK,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH3_domain,pfscan_SH3_domain	p.L322	ENST00000437633.1	37	c.966	CCDS47688.1	7																																																																																			DOCK4	-	NULL	ENSG00000128512		0.498	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK4	HGNC	protein_coding	OTTHUMT00000338369.4	48	0.00	0	C	NM_014705		111580176	111580176	-1	no_errors	ENST00000428084	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	0.975	T
DOCK8	81704	genome.wustl.edu	37	9	372225	372225	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:372225C>G	ENST00000453981.1	+	18	2160	c.2048C>G	c.(2047-2049)tCc>tGc	p.S683C	DOCK8_ENST00000382329.1_Missense_Mutation_p.S150C|DOCK8_ENST00000469391.1_Missense_Mutation_p.S615C|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.S615C			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	683	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAACTGGATCCTACTGTCTC	0.403																																						dbGAP											0													122.0	111.0	114.0					9																	372225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2048C>G	9.37:g.372225C>G	ENSP00000408464:p.Ser683Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.S683C	ENST00000453981.1	37	c.2048	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616912	0.66672	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.63	5.63	0.86233	.	0.237025	0.44688	D	0.000434	T	0.25419	0.0618	L	0.38175	1.15	0.35600	D	0.807826	P;P;P	0.52316	0.886;0.84;0.952	P;P;P	0.54856	0.762;0.762;0.762	T	0.09015	-1.0694	10	0.87932	D	0	.	13.0619	0.59012	0.2636:0.7364:0.0:0.0	.	615;150;683	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	C	683;683;615;615;150	ENSP00000408464:S683C;ENSP00000394888:S615C;ENSP00000419438:S615C;ENSP00000371766:S150C	ENSP00000287364:S683C	S	+	2	0	DOCK8	362225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.907000	0.48743	2.814000	0.96858	0.655000	0.94253	TCC	DOCK8	-	NULL	ENSG00000107099		0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	67	0.00	0	C	XM_036307		372225	372225	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	G
DOCK8	81704	genome.wustl.edu	37	9	372225	372225	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:372225C>G	ENST00000453981.1	+	18	2160	c.2048C>G	c.(2047-2049)tCc>tGc	p.S683C	DOCK8_ENST00000382329.1_Missense_Mutation_p.S150C|DOCK8_ENST00000469391.1_Missense_Mutation_p.S615C|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.S615C			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	683	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAAACTGGATCCTACTGTCTC	0.403																																						dbGAP											0													122.0	111.0	114.0					9																	372225		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2048C>G	9.37:g.372225C>G	ENSP00000408464:p.Ser683Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.S683C	ENST00000453981.1	37	c.2048	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	18.41	3.616912	0.66672	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	5.63	5.63	0.86233	.	0.237025	0.44688	D	0.000434	T	0.25419	0.0618	L	0.38175	1.15	0.35600	D	0.807826	P;P;P	0.52316	0.886;0.84;0.952	P;P;P	0.54856	0.762;0.762;0.762	T	0.09015	-1.0694	10	0.87932	D	0	.	13.0619	0.59012	0.2636:0.7364:0.0:0.0	.	615;150;683	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	C	683;683;615;615;150	ENSP00000408464:S683C;ENSP00000394888:S615C;ENSP00000419438:S615C;ENSP00000371766:S150C	ENSP00000287364:S683C	S	+	2	0	DOCK8	362225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.907000	0.48743	2.814000	0.96858	0.655000	0.94253	TCC	DOCK8	-	NULL	ENSG00000107099		0.403	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	74	0.00	0	C	XM_036307		372225	372225	+1	no_errors	ENST00000453981	ensembl	human	known	69_37n	missense	35	12.50	5	SNP	1.000	G
DPM3	54344	genome.wustl.edu	37	1	155112728	155112728	+	5'UTR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:155112728G>C	ENST00000341298.3	-	0	124				DPM3_ENST00000368400.4_Intron|DPM3_ENST00000368399.1_Missense_Mutation_p.L27V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3						C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCACTGCGAGAGAAGGAAGc	0.602																																						dbGAP											0													28.0	30.0	30.0					1																	155112728		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.-12C>G	1.37:g.155112728G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Missense_Mutation	SNP	pfam_DPM3	p.L27V	ENST00000341298.3	37	c.79	CCDS1095.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955533	0.34471	.	.	ENSG00000179085	ENST00000368399	T	0.79033	-1.23	4.61	1.71	0.24356	.	0.498956	0.15020	U	0.285031	T	0.35307	0.0927	N	0.08118	0	0.31716	N	0.638908	B	0.29037	0.231	B	0.26770	0.073	T	0.04593	-1.0940	10	0.66056	D	0.02	-39.0172	5.518	0.16918	0.1752:0.0:0.6656:0.1592	.	73	B4DEH1	.	V	27	ENSP00000357384:L27V	ENSP00000357384:L27V	L	-	1	0	DPM3	153379352	0.025000	0.19082	0.014000	0.15608	0.037000	0.13140	1.672000	0.37523	0.200000	0.20447	-0.215000	0.12644	CTC	DPM3	-	NULL	ENSG00000179085		0.602	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	HGNC	protein_coding	OTTHUMT00000085519.1	45	0.00	0	G	NM_153741		155112728	155112728	-1	no_errors	ENST00000368399	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.196	C
DPM3	54344	genome.wustl.edu	37	1	155112728	155112728	+	5'UTR	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:155112728G>C	ENST00000341298.3	-	0	124				DPM3_ENST00000368400.4_Intron|DPM3_ENST00000368399.1_Missense_Mutation_p.L27V			Q9P2X0	DPM3_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 3						C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan (GO:0018406)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mannosyltransferase complex (GO:0031501)|membrane (GO:0016020)				endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCACTGCGAGAGAAGGAAGc	0.602																																						dbGAP											0													28.0	30.0	30.0					1																	155112728		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB028128	CCDS1094.1, CCDS1095.1	1q22	2013-02-26			ENSG00000179085	ENSG00000179085			3007	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	605951				10835346	Standard	NM_018973		Approved	MGC34275, MGC125904, MGC125905	uc001fhm.3	Q9P2X0	OTTHUMG00000035335	ENST00000341298.3:c.-12C>G	1.37:g.155112728G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SR62|Q5SR63|Q9BXN4|Q9BXN5	Missense_Mutation	SNP	pfam_DPM3	p.L27V	ENST00000341298.3	37	c.79	CCDS1095.1	1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.955533	0.34471	.	.	ENSG00000179085	ENST00000368399	T	0.79033	-1.23	4.61	1.71	0.24356	.	0.498956	0.15020	U	0.285031	T	0.35307	0.0927	N	0.08118	0	0.31716	N	0.638908	B	0.29037	0.231	B	0.26770	0.073	T	0.04593	-1.0940	10	0.66056	D	0.02	-39.0172	5.518	0.16918	0.1752:0.0:0.6656:0.1592	.	73	B4DEH1	.	V	27	ENSP00000357384:L27V	ENSP00000357384:L27V	L	-	1	0	DPM3	153379352	0.025000	0.19082	0.014000	0.15608	0.037000	0.13140	1.672000	0.37523	0.200000	0.20447	-0.215000	0.12644	CTC	DPM3	-	NULL	ENSG00000179085		0.602	DPM3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DPM3	HGNC	protein_coding	OTTHUMT00000085519.1	34	0.00	0	G	NM_153741		155112728	155112728	-1	no_errors	ENST00000368399	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.196	C
DPP6	1804	genome.wustl.edu	37	7	154659788	154659788	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:154659788G>A	ENST00000377770.3	+	18	1939	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	DPP6_ENST00000427557.1_Missense_Mutation_p.E493K|RP11-476H24.1_ENST00000448767.1_RNA|DPP6_ENST00000332007.3_Missense_Mutation_p.E538K|DPP6_ENST00000404039.1_Missense_Mutation_p.E536K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	600					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGGGACATTGAGATTGATGA	0.408																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													101.0	97.0	98.0					7																	154659788		1907	4138	6045	-	-	-	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1798G>A	7.37:g.154659788G>A	ENSP00000367001:p.Glu600Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.E600K	ENST00000377770.3	37	c.1798		7	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145850	0.01714	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.78	3.83	0.44106	.	0.425284	0.28465	N	0.015246	T	0.20901	0.0503	N	0.20766	0.605	0.35613	D	0.808794	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.17077	-1.0381	10	0.09084	T	0.74	-22.0327	5.2816	0.15678	0.1309:0.3962:0.4729:0.0	.	493;538;600;536	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	K	536;600;538;493	ENSP00000385578:E536K;ENSP00000367001:E600K;ENSP00000328226:E538K;ENSP00000397303:E493K	ENSP00000328226:E538K	E	+	1	0	DPP6	154290721	0.868000	0.29978	0.046000	0.18839	0.019000	0.09904	1.493000	0.35605	2.190000	0.69967	0.655000	0.94253	GAG	DPP6	-	NULL	ENSG00000130226		0.408	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	29	0.00	0	G	NM_130797		154659788	154659788	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.742	A
DPP6	1804	genome.wustl.edu	37	7	154659788	154659788	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:154659788G>A	ENST00000377770.3	+	18	1939	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K	DPP6_ENST00000427557.1_Missense_Mutation_p.E493K|RP11-476H24.1_ENST00000448767.1_RNA|DPP6_ENST00000332007.3_Missense_Mutation_p.E538K|DPP6_ENST00000404039.1_Missense_Mutation_p.E536K			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	600					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAGGGACATTGAGATTGATGA	0.408																																					NSCLC(125;1384 1783 2490 7422 34254)	dbGAP											0													101.0	97.0	98.0					7																	154659788		1907	4138	6045	-	-	-	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.1798G>A	7.37:g.154659788G>A	ENSP00000367001:p.Glu600Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.E600K	ENST00000377770.3	37	c.1798		7	.	.	.	.	.	.	.	.	.	.	G	0.106	-1.145850	0.01714	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	4.78	3.83	0.44106	.	0.425284	0.28465	N	0.015246	T	0.20901	0.0503	N	0.20766	0.605	0.35613	D	0.808794	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.17077	-1.0381	10	0.09084	T	0.74	-22.0327	5.2816	0.15678	0.1309:0.3962:0.4729:0.0	.	493;538;600;536	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	K	536;600;538;493	ENSP00000385578:E536K;ENSP00000367001:E600K;ENSP00000328226:E538K;ENSP00000397303:E493K	ENSP00000328226:E538K	E	+	1	0	DPP6	154290721	0.868000	0.29978	0.046000	0.18839	0.019000	0.09904	1.493000	0.35605	2.190000	0.69967	0.655000	0.94253	GAG	DPP6	-	NULL	ENSG00000130226		0.408	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	26	0.00	0	G	NM_130797		154659788	154659788	+1	no_errors	ENST00000377770	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.742	A
DST	667	genome.wustl.edu	37	6	56484598	56484598	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:56484598C>T	ENST00000370765.6	-	23	4341	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6243					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATTTGTTTCATCTAGTTTA	0.413																																						dbGAP											0													137.0	131.0	133.0					6																	56484598		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4234G>A	6.37:g.56484598C>T	ENSP00000359801:p.Glu1412Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1412K	ENST00000370765.6	37	c.4234	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946974	0.34377	.	.	ENSG00000151914	ENST00000370765	T	0.14144	2.53	5.23	5.23	0.72850	.	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	0.999993	B	0.27351	0.176	B	0.21917	0.037	T	0.35101	-0.9802	7	0.21540	T	0.41	.	14.0907	0.64987	0.0:0.9253:0.0:0.0747	.	1412	Q03001-3	.	K	1412	ENSP00000359801:E1412K	ENSP00000359801:E1412K	E	-	1	0	DST	56592557	0.674000	0.27549	0.779000	0.31741	0.985000	0.73830	1.526000	0.35964	2.445000	0.82738	0.650000	0.86243	GAA	DST	-	NULL	ENSG00000151914		0.413	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	69	0.00	0	C	NM_001723		56484598	56484598	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.997	T
DST	667	genome.wustl.edu	37	6	56484598	56484598	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:56484598C>T	ENST00000370765.6	-	23	4341	c.4234G>A	c.(4234-4236)Gaa>Aaa	p.E1412K	DST_ENST00000370769.4_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6243					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTATTTGTTTCATCTAGTTTA	0.413																																						dbGAP											0													137.0	131.0	133.0					6																	56484598		2203	4300	6503	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4234G>A	6.37:g.56484598C>T	ENSP00000359801:p.Glu1412Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1412K	ENST00000370765.6	37	c.4234	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	12.47	1.946974	0.34377	.	.	ENSG00000151914	ENST00000370765	T	0.14144	2.53	5.23	5.23	0.72850	.	.	.	.	.	T	0.04182	0.0116	.	.	.	0.09310	N	0.999993	B	0.27351	0.176	B	0.21917	0.037	T	0.35101	-0.9802	7	0.21540	T	0.41	.	14.0907	0.64987	0.0:0.9253:0.0:0.0747	.	1412	Q03001-3	.	K	1412	ENSP00000359801:E1412K	ENSP00000359801:E1412K	E	-	1	0	DST	56592557	0.674000	0.27549	0.779000	0.31741	0.985000	0.73830	1.526000	0.35964	2.445000	0.82738	0.650000	0.86243	GAA	DST	-	NULL	ENSG00000151914		0.413	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	66	0.00	0	C	NM_001723		56484598	56484598	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	missense	26	33.33	13	SNP	0.997	T
DTX1	1840	genome.wustl.edu	37	12	113533346	113533346	+	Intron	SNP	G	G	A	rs2701622	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:113533346G>A	ENST00000257600.3	+	8	2141				DTX1_ENST00000547974.1_Intron	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase						cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCAGCACCCGAACAGTAACG	0.542													G|||	3849	0.76857	0.739	0.8573	5008	,	,		18494	0.7639		0.7714	False		,,,				2504	0.7474					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1638+127G>A	12.37:g.113533346G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60630|Q9BS04	RNA	SNP	-	NULL	ENST00000257600.3	37	NULL	CCDS9164.1	12																																																																																			DTX1	-	-	ENSG00000135144		0.542	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	13	0.00	0	G			113533346	113533346	+1	no_errors	ENST00000547730	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.000	A
DUSP21	63904	genome.wustl.edu	37	X	44703469	44703469	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:44703469C>G	ENST00000339042.4	+	1	221	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	31	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						AAGCTTGTTTCTCAGCAATGG	0.527																																						dbGAP											0													99.0	77.0	85.0					X																	44703469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.91C>G	X.37:g.44703469C>G	ENSP00000343244:p.Leu31Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L31V	ENST00000339042.4	37	c.91	CCDS14264.1	X	.	.	.	.	.	.	.	.	.	.	c	10.94	1.492070	0.26774	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.90324	-2.65	3.82	-0.00778	0.14008	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.236840	0.43919	D	0.000518	D	0.85626	0.5740	M	0.74258	2.255	0.21256	N	0.999748	B	0.31817	0.341	B	0.29785	0.107	T	0.77635	-0.2514	10	0.87932	D	0	.	1.4681	0.02410	0.3464:0.3729:0.1104:0.1704	.	31	Q9H596	DUS21_HUMAN	V	31	ENSP00000343244:L31V	ENSP00000343244:L31V	L	+	1	0	DUSP21	44588413	0.626000	0.27120	0.002000	0.10522	0.009000	0.06853	0.749000	0.26320	-0.093000	0.12396	-0.321000	0.08615	CTC	DUSP21	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000189037		0.527	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP21	HGNC	protein_coding	OTTHUMT00000056323.1	61	0.00	0	C	NM_022076		44703469	44703469	+1	no_errors	ENST00000339042	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.053	G
DUSP21	63904	genome.wustl.edu	37	X	44703469	44703469	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:44703469C>G	ENST00000339042.4	+	1	221	c.91C>G	c.(91-93)Ctc>Gtc	p.L31V		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	31	Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						AAGCTTGTTTCTCAGCAATGG	0.527																																						dbGAP											0													99.0	77.0	85.0					X																	44703469		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.91C>G	X.37:g.44703469C>G	ENSP00000343244:p.Leu31Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDA6|Q6IAJ6|Q6YDQ8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.L31V	ENST00000339042.4	37	c.91	CCDS14264.1	X	.	.	.	.	.	.	.	.	.	.	c	10.94	1.492070	0.26774	.	.	ENSG00000189037	ENST00000339042;ENST00000537377	D	0.90324	-2.65	3.82	-0.00778	0.14008	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.236840	0.43919	D	0.000518	D	0.85626	0.5740	M	0.74258	2.255	0.21256	N	0.999748	B	0.31817	0.341	B	0.29785	0.107	T	0.77635	-0.2514	10	0.87932	D	0	.	1.4681	0.02410	0.3464:0.3729:0.1104:0.1704	.	31	Q9H596	DUS21_HUMAN	V	31	ENSP00000343244:L31V	ENSP00000343244:L31V	L	+	1	0	DUSP21	44588413	0.626000	0.27120	0.002000	0.10522	0.009000	0.06853	0.749000	0.26320	-0.093000	0.12396	-0.321000	0.08615	CTC	DUSP21	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat	ENSG00000189037		0.527	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP21	HGNC	protein_coding	OTTHUMT00000056323.1	56	0.00	0	C	NM_022076		44703469	44703469	+1	no_errors	ENST00000339042	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.053	G
DYNC1H1	1778	genome.wustl.edu	37	14	102470886	102470886	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:102470886G>C	ENST00000360184.4	+	24	5079	c.4915G>C	c.(4915-4917)Gaa>Caa	p.E1639Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1639	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATTTGCTTGAAATCATTGG	0.333																																						dbGAP											0													72.0	69.0	70.0					14																	102470886		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4915G>C	14.37:g.102470886G>C	ENSP00000348965:p.Glu1639Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E1639Q	ENST00000360184.4	37	c.4915	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.245874	0.95272	.	.	ENSG00000197102	ENST00000360184	T	0.65364	-0.15	5.73	5.73	0.89815	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.89840	3.065	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.86073	0.1539	10	0.66056	D	0.02	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	1639	Q14204	DYHC1_HUMAN	Q	1639	ENSP00000348965:E1639Q	ENSP00000348965:E1639Q	E	+	1	0	DYNC1H1	101540639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.802000	0.99131	2.706000	0.92434	0.563000	0.77884	GAA	DYNC1H1	-	pfam_Dynein_heavy_dom-2,superfamily_Thioredoxin-like_fold	ENSG00000197102		0.333	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	78	0.00	0	G	NM_001376		102470886	102470886	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	C
DYNC1H1	1778	genome.wustl.edu	37	14	102470886	102470886	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:102470886G>C	ENST00000360184.4	+	24	5079	c.4915G>C	c.(4915-4917)Gaa>Caa	p.E1639Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1639	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATTTGCTTGAAATCATTGG	0.333																																						dbGAP											0													72.0	69.0	70.0					14																	102470886		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4915G>C	14.37:g.102470886G>C	ENSP00000348965:p.Glu1639Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.E1639Q	ENST00000360184.4	37	c.4915	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	33	5.245874	0.95272	.	.	ENSG00000197102	ENST00000360184	T	0.65364	-0.15	5.73	5.73	0.89815	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.83727	0.5317	M	0.89840	3.065	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.86073	0.1539	10	0.66056	D	0.02	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	1639	Q14204	DYHC1_HUMAN	Q	1639	ENSP00000348965:E1639Q	ENSP00000348965:E1639Q	E	+	1	0	DYNC1H1	101540639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.802000	0.99131	2.706000	0.92434	0.563000	0.77884	GAA	DYNC1H1	-	pfam_Dynein_heavy_dom-2,superfamily_Thioredoxin-like_fold	ENSG00000197102		0.333	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	49	0.00	0	G	NM_001376		102470886	102470886	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	1.000	C
E2F7	144455	genome.wustl.edu	37	12	77439881	77439881	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:77439881C>T	ENST00000322886.7	-	5	1001	c.766G>A	c.(766-768)Gat>Aat	p.D256N	E2F7_ENST00000416496.2_Missense_Mutation_p.D256N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	256					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGATCACCATCTTTTTTACGT	0.433																																						dbGAP											0													158.0	150.0	153.0					12																	77439881		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.766G>A	12.37:g.77439881C>T	ENSP00000323246:p.Asp256Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.D256N	ENST00000322886.7	37	c.766	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510288	0.27036	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.17528	2.54;2.27;2.28	6.04	5.15	0.70609	.	0.275476	0.40469	N	0.001092	T	0.17831	0.0428	L	0.51422	1.61	0.38510	D	0.948448	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.04467	-1.0949	10	0.27082	T	0.32	-13.4229	14.2039	0.65721	0.0:0.9292:0.0:0.0708	.	256;256	F8VSE7;Q96AV8	.;E2F7_HUMAN	N	256	ENSP00000323246:D256N;ENSP00000393639:D256N;ENSP00000448245:D256N	ENSP00000323246:D256N	D	-	1	0	E2F7	75964012	1.000000	0.71417	0.970000	0.41538	0.399000	0.30720	4.788000	0.62439	1.572000	0.49736	0.561000	0.74099	GAT	E2F7	-	NULL	ENSG00000165891		0.433	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	65	0.00	0	C	XM_084871		77439881	77439881	-1	no_errors	ENST00000322886	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.993	T
E2F7	144455	genome.wustl.edu	37	12	77439881	77439881	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:77439881C>T	ENST00000322886.7	-	5	1001	c.766G>A	c.(766-768)Gat>Aat	p.D256N	E2F7_ENST00000416496.2_Missense_Mutation_p.D256N	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	256					chorionic trophoblast cell differentiation (GO:0060718)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hepatocyte differentiation (GO:0070365)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokinesis (GO:0032466)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						GGATCACCATCTTTTTTACGT	0.433																																						dbGAP											0													158.0	150.0	153.0					12																	77439881		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016658	CCDS9016.1	12q21.1	2008-02-05				ENSG00000165891			23820	protein-coding gene	gene with protein product		612046				12893818	Standard	NM_203394		Approved		uc001sym.4	Q96AV8	OTTHUMG00000169969	ENST00000322886.7:c.766G>A	12.37:g.77439881C>T	ENSP00000323246:p.Asp256Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NC74|B2RMR7|B3KTZ5|B3KUP8|B5MED9	Missense_Mutation	SNP	pfam_E2F_TDP	p.D256N	ENST00000322886.7	37	c.766	CCDS9016.1	12	.	.	.	.	.	.	.	.	.	.	C	11.00	1.510288	0.27036	.	.	ENSG00000165891	ENST00000322886;ENST00000416496;ENST00000550669	T;T;T	0.17528	2.54;2.27;2.28	6.04	5.15	0.70609	.	0.275476	0.40469	N	0.001092	T	0.17831	0.0428	L	0.51422	1.61	0.38510	D	0.948448	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.003	T	0.04467	-1.0949	10	0.27082	T	0.32	-13.4229	14.2039	0.65721	0.0:0.9292:0.0:0.0708	.	256;256	F8VSE7;Q96AV8	.;E2F7_HUMAN	N	256	ENSP00000323246:D256N;ENSP00000393639:D256N;ENSP00000448245:D256N	ENSP00000323246:D256N	D	-	1	0	E2F7	75964012	1.000000	0.71417	0.970000	0.41538	0.399000	0.30720	4.788000	0.62439	1.572000	0.49736	0.561000	0.74099	GAT	E2F7	-	NULL	ENSG00000165891		0.433	E2F7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E2F7	HGNC	protein_coding	OTTHUMT00000406716.1	73	0.00	0	C	XM_084871		77439881	77439881	-1	no_errors	ENST00000322886	ensembl	human	known	69_37n	missense	35	20.45	9	SNP	0.993	T
EBF4	57593	genome.wustl.edu	37	20	2739566	2739566	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:2739566G>C	ENST00000609451.1	+	16	1822	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	EBF4_ENST00000380648.4_Missense_Mutation_p.E580Q|EBF4_ENST00000477287.1_3'UTR			Q9BQW3	COE4_HUMAN	early B-cell factor 4	584					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCAGTCTTTTGAGGATTCTGA	0.582																																						dbGAP											0													145.0	121.0	128.0					20																	2739566		692	1591	2283	-	-	-	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.1750G>C	20.37:g.2739566G>C	ENSP00000477023:p.Glu584Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E584Q	ENST00000609451.1	37	c.1750		20	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746353	0.30955	.	.	ENSG00000088881	ENST00000380648;ENST00000342725;ENST00000539912	T;T	0.44482	0.92;0.92	4.79	4.79	0.61399	.	.	.	.	.	T	0.28366	0.0701	N	0.22421	0.69	0.30895	N	0.729954	P	0.43826	0.818	B	0.37650	0.255	T	0.10870	-1.0611	9	0.25751	T	0.34	.	13.2035	0.59782	0.0:0.0:1.0:0.0	.	580	E9PEI2	.	Q	580;584;166	ENSP00000370022:E580Q;ENSP00000345030:E584Q	ENSP00000345030:E584Q	E	+	1	0	EBF4	2687566	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.190000	0.77755	2.500000	0.84329	0.462000	0.41574	GAG	EBF4	-	NULL	ENSG00000088881		0.582	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	116	0.00	0	G	XM_938882		2739566	2739566	+1	no_errors	ENST00000342725	ensembl	human	known	69_37n	missense	91	22.22	26	SNP	1.000	C
EBF4	57593	genome.wustl.edu	37	20	2739566	2739566	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:2739566G>C	ENST00000609451.1	+	16	1822	c.1750G>C	c.(1750-1752)Gag>Cag	p.E584Q	EBF4_ENST00000380648.4_Missense_Mutation_p.E580Q|EBF4_ENST00000477287.1_3'UTR			Q9BQW3	COE4_HUMAN	early B-cell factor 4	584					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCAGTCTTTTGAGGATTCTGA	0.582																																						dbGAP											0													145.0	121.0	128.0					20																	2739566		692	1591	2283	-	-	-	SO:0001583	missense	0			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.1750G>C	20.37:g.2739566G>C	ENSP00000477023:p.Glu584Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.E584Q	ENST00000609451.1	37	c.1750		20	.	.	.	.	.	.	.	.	.	.	G	11.80	1.746353	0.30955	.	.	ENSG00000088881	ENST00000380648;ENST00000342725;ENST00000539912	T;T	0.44482	0.92;0.92	4.79	4.79	0.61399	.	.	.	.	.	T	0.28366	0.0701	N	0.22421	0.69	0.30895	N	0.729954	P	0.43826	0.818	B	0.37650	0.255	T	0.10870	-1.0611	9	0.25751	T	0.34	.	13.2035	0.59782	0.0:0.0:1.0:0.0	.	580	E9PEI2	.	Q	580;584;166	ENSP00000370022:E580Q;ENSP00000345030:E584Q	ENSP00000345030:E584Q	E	+	1	0	EBF4	2687566	1.000000	0.71417	1.000000	0.80357	0.728000	0.41692	7.190000	0.77755	2.500000	0.84329	0.462000	0.41574	GAG	EBF4	-	NULL	ENSG00000088881		0.582	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	70	0.00	0	G	XM_938882		2739566	2739566	+1	no_errors	ENST00000342725	ensembl	human	known	69_37n	missense	91	22.22	26	SNP	1.000	C
EEF1A1	1915	genome.wustl.edu	37	6	74227879	74227879	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:74227879C>G	ENST00000316292.9	-	6	2129	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	EEF1A1_ENST00000331523.2_Missense_Mutation_p.D380H|EEF1A1_ENST00000309268.6_Missense_Mutation_p.D380H|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	380					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACGGCGATCAATCTTTTCC	0.493											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													13.0	14.0	14.0					6																	74227879		2075	4201	6276	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1138G>C	6.37:g.74227879C>G	ENSP00000339063:p.Asp380His	Somatic	1151	WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.D380H	ENST00000316292.9	37	c.1138	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085548	0.76642	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.52754	0.65;0.65;0.65	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.128533	0.50627	U	0.000119	D	0.82976	0.5154	H	0.99973	5.135	0.80722	D	1	D;D;D	0.58620	0.983;0.983;0.983	D;D;D	0.64410	0.925;0.925;0.925	D	0.92020	0.5625	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	380;380;380	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	H	380;378;380;380;359	ENSP00000339063:D380H;ENSP00000339053:D380H;ENSP00000330054:D380H	ENSP00000339053:D380H	D	-	1	0	EEF1A1	74284600	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.442000	0.80503	2.381000	0.81170	0.556000	0.70494	GAT	EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.493	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	58	0.00	0	C	NM_001402		74227879	74227879	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	G
EEF1A1	1915	genome.wustl.edu	37	6	74227879	74227879	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:74227879C>G	ENST00000316292.9	-	6	2129	c.1138G>C	c.(1138-1140)Gat>Cat	p.D380H	EEF1A1_ENST00000331523.2_Missense_Mutation_p.D380H|EEF1A1_ENST00000309268.6_Missense_Mutation_p.D380H|EEF1A1_ENST00000491404.1_Intron	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	380					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GAACGGCGATCAATCTTTTCC	0.493											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													13.0	14.0	14.0					6																	74227879		2075	4201	6276	-	-	-	SO:0001583	missense	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1138G>C	6.37:g.74227879C>G	ENSP00000339063:p.Asp380His	Somatic	1151	WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.D380H	ENST00000316292.9	37	c.1138	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085548	0.76642	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977	T;T;T	0.52754	0.65;0.65;0.65	4.81	4.81	0.61882	Translation elongation factor EF1A/initiation factor IF2gamma, C-terminal (2);Translation elongation factor EFTu/EF1A, C-terminal (2);	0.128533	0.50627	U	0.000119	D	0.82976	0.5154	H	0.99973	5.135	0.80722	D	1	D;D;D	0.58620	0.983;0.983;0.983	D;D;D	0.64410	0.925;0.925;0.925	D	0.92020	0.5625	10	0.87932	D	0	.	18.3119	0.90203	0.0:1.0:0.0:0.0	.	380;380;380	P68104;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;EF1A3_HUMAN	H	380;378;380;380;359	ENSP00000339063:D380H;ENSP00000339053:D380H;ENSP00000330054:D380H	ENSP00000339053:D380H	D	-	1	0	EEF1A1	74284600	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.442000	0.80503	2.381000	0.81170	0.556000	0.70494	GAT	EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.493	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	57	0.00	0	C	NM_001402		74227879	74227879	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	G
EFNA1	1942	genome.wustl.edu	37	1	155103876	155103876	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:155103876C>G	ENST00000368407.3	+	2	672	c.154C>G	c.(154-156)Ccg>Gcg	p.P52A	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Missense_Mutation_p.P52A	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	52	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCATCTGTCCGCACTATGA	0.542																																						dbGAP											0													110.0	82.0	92.0					1																	155103876		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.154C>G	1.37:g.155103876C>G	ENSP00000357392:p.Pro52Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.P52A	ENST00000368407.3	37	c.154	CCDS1091.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744315	0.69418	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	T;T	0.74209	-0.82;-0.82	5.22	5.22	0.72569	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	M	0.90252	3.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89491	0.3757	10	0.87932	D	0	5.8806	16.6237	0.84936	0.0:1.0:0.0:0.0	.	52;52	P20827-2;P20827	.;EFNA1_HUMAN	A	52	ENSP00000357392:P52A;ENSP00000357391:P52A	ENSP00000357391:P52A	P	+	1	0	EFNA1	153370500	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	7.407000	0.80029	2.594000	0.87642	0.655000	0.94253	CCG	EFNA1	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000169242		0.542	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	42	0.00	0	C	NM_004428		155103876	155103876	+1	no_errors	ENST00000368407	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	G
EFNA1	1942	genome.wustl.edu	37	1	155103876	155103876	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:155103876C>G	ENST00000368407.3	+	2	672	c.154C>G	c.(154-156)Ccg>Gcg	p.P52A	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Missense_Mutation_p.P52A	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	52	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|ephrin receptor signaling pathway (GO:0048013)|mitral valve morphogenesis (GO:0003183)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|notochord formation (GO:0014028)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of angiogenesis (GO:0045765)|regulation of axonogenesis (GO:0050770)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|substrate adhesion-dependent cell spreading (GO:0034446)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ephrin receptor binding (GO:0046875)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCATCTGTCCGCACTATGA	0.542																																						dbGAP											0													110.0	82.0	92.0					1																	155103876		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1091.1, CCDS1092.1	1q21-q22	2011-03-09			ENSG00000169242	ENSG00000169242		"""Ephrins"""	3221	protein-coding gene	gene with protein product		191164		TNFAIP4, EPLG1		2233719, 8660976	Standard	NM_182685		Approved	LERK1, ECKLG	uc001fhh.3	P20827	OTTHUMG00000035312	ENST00000368407.3:c.154C>G	1.37:g.155103876C>G	ENSP00000357392:p.Pro52Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV86|Q5SR60|Q5SR61|Q6I9T9|Q8N578	Missense_Mutation	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.P52A	ENST00000368407.3	37	c.154	CCDS1091.1	1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744315	0.69418	.	.	ENSG00000169242	ENST00000368407;ENST00000368406	T;T	0.74209	-0.82;-0.82	5.22	5.22	0.72569	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.87245	0.6129	M	0.90252	3.1	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89491	0.3757	10	0.87932	D	0	5.8806	16.6237	0.84936	0.0:1.0:0.0:0.0	.	52;52	P20827-2;P20827	.;EFNA1_HUMAN	A	52	ENSP00000357392:P52A;ENSP00000357391:P52A	ENSP00000357391:P52A	P	+	1	0	EFNA1	153370500	1.000000	0.71417	0.998000	0.56505	0.405000	0.30901	7.407000	0.80029	2.594000	0.87642	0.655000	0.94253	CCG	EFNA1	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	ENSG00000169242		0.542	EFNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNA1	HGNC	protein_coding	OTTHUMT00000085428.1	37	0.00	0	C	NM_004428		155103876	155103876	+1	no_errors	ENST00000368407	ensembl	human	known	69_37n	missense	26	21.21	7	SNP	1.000	G
EGFL6	25975	genome.wustl.edu	37	X	13618113	13618113	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:13618113G>T	ENST00000361306.1	+	4	557	c.300G>T	c.(298-300)atG>atT	p.M100I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M100I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	100	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AGTGTGGAATGAAACCCCGGC	0.483																																						dbGAP											0													132.0	103.0	113.0					X																	13618113		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.300G>T	X.37:g.13618113G>T	ENSP00000355126:p.Met100Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.M100I	ENST00000361306.1	37	c.300	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	G	8.383	0.837879	0.16891	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.91631	-2.88;-2.88	5.09	-4.79	0.03200	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	1.013670	0.07895	N	0.971759	T	0.79718	0.4494	N	0.05031	-0.125	0.20563	N	0.999887	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64093	-0.6488	10	0.37606	T	0.19	.	8.2717	0.31849	0.1156:0.3057:0.5787:0.0	.	100;100	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	I	100	ENSP00000355126:M100I;ENSP00000369976:M100I	ENSP00000355126:M100I	M	+	3	0	EGFL6	13528034	0.974000	0.33945	0.000000	0.03702	0.090000	0.18270	0.481000	0.22260	-1.984000	0.00985	0.600000	0.82982	ATG	EGFL6	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000198759		0.483	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	120	0.00	0	G	NM_015507		13618113	13618113	+1	no_errors	ENST00000380602	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	0.499	T
EGFL6	25975	genome.wustl.edu	37	X	13618113	13618113	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:13618113G>T	ENST00000361306.1	+	4	557	c.300G>T	c.(298-300)atG>atT	p.M100I	EGFL6_ENST00000380602.3_Missense_Mutation_p.M100I	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	100	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AGTGTGGAATGAAACCCCGGC	0.483																																						dbGAP											0													132.0	103.0	113.0					X																	13618113		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF186084	CCDS14155.1, CCDS55370.1	Xp22	2008-02-05	2002-10-09		ENSG00000198759	ENSG00000198759			3235	protein-coding gene	gene with protein product		300239	"""MAM and EGF domain containing"""	MAEG		10610727	Standard	NM_015507		Approved		uc004cvj.3	Q8IUX8	OTTHUMG00000021155	ENST00000361306.1:c.300G>T	X.37:g.13618113G>T	ENSP00000355126:p.Met100Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCB1|Q6UXJ1|Q8NBV0|Q8WYG3|Q9NY67|Q9NZL7|Q9UFK6	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.M100I	ENST00000361306.1	37	c.300	CCDS14155.1	X	.	.	.	.	.	.	.	.	.	.	G	8.383	0.837879	0.16891	.	.	ENSG00000198759	ENST00000361306;ENST00000380602	D;D	0.91631	-2.88;-2.88	5.09	-4.79	0.03200	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	1.013670	0.07895	N	0.971759	T	0.79718	0.4494	N	0.05031	-0.125	0.20563	N	0.999887	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.64093	-0.6488	10	0.37606	T	0.19	.	8.2717	0.31849	0.1156:0.3057:0.5787:0.0	.	100;100	Q8IUX8-2;Q8IUX8	.;EGFL6_HUMAN	I	100	ENSP00000355126:M100I;ENSP00000369976:M100I	ENSP00000355126:M100I	M	+	3	0	EGFL6	13528034	0.974000	0.33945	0.000000	0.03702	0.090000	0.18270	0.481000	0.22260	-1.984000	0.00985	0.600000	0.82982	ATG	EGFL6	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000198759		0.483	EGFL6-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	EGFL6	HGNC	protein_coding	OTTHUMT00000055800.1	121	0.00	0	G	NM_015507		13618113	13618113	+1	no_errors	ENST00000380602	ensembl	human	known	69_37n	missense	77	15.38	14	SNP	0.499	T
EHMT1	79813	genome.wustl.edu	37	9	140622927	140622927	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:140622927C>A	ENST00000460843.1	+	4	796	c.769C>A	c.(769-771)Cat>Aat	p.H257N	EHMT1_ENST00000334856.6_Missense_Mutation_p.H226N|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.H257N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	257					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCCATCCCTTCATCAGTCGCT	0.463																																						dbGAP											0													142.0	130.0	134.0					9																	140622927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.769C>A	9.37:g.140622927C>A	ENSP00000417980:p.His257Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.H257N	ENST00000460843.1	37	c.769	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621071	0.87460	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69806	1.66;0.89;-0.43	5.72	5.72	0.89469	.	0.267929	0.36665	N	0.002473	T	0.76033	0.3931	L	0.57536	1.79	0.39193	D	0.963009	P;D;D	0.67145	0.872;0.99;0.996	P;P;P	0.61070	0.476;0.842;0.883	T	0.71689	-0.4517	10	0.19590	T	0.45	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	257;226;257	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	N	226;226;257;257	ENSP00000334476:H226N;ENSP00000417328:H257N;ENSP00000417980:H257N	ENSP00000334476:H226N	H	+	1	0	EHMT1	139742748	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	4.594000	0.61041	2.705000	0.92388	0.585000	0.79938	CAT	EHMT1	-	NULL	ENSG00000181090		0.463	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	40	0.00	0	C	NM_024757		140622927	140622927	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
EHMT1	79813	genome.wustl.edu	37	9	140622927	140622927	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:140622927C>A	ENST00000460843.1	+	4	796	c.769C>A	c.(769-771)Cat>Aat	p.H257N	EHMT1_ENST00000334856.6_Missense_Mutation_p.H226N|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.H257N	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	257					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCCATCCCTTCATCAGTCGCT	0.463																																						dbGAP											0													142.0	130.0	134.0					9																	140622927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.769C>A	9.37:g.140622927C>A	ENSP00000417980:p.His257Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.H257N	ENST00000460843.1	37	c.769	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621071	0.87460	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.69806	1.66;0.89;-0.43	5.72	5.72	0.89469	.	0.267929	0.36665	N	0.002473	T	0.76033	0.3931	L	0.57536	1.79	0.39193	D	0.963009	P;D;D	0.67145	0.872;0.99;0.996	P;P;P	0.61070	0.476;0.842;0.883	T	0.71689	-0.4517	10	0.19590	T	0.45	.	18.0591	0.89371	0.0:1.0:0.0:0.0	.	257;226;257	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	N	226;226;257;257	ENSP00000334476:H226N;ENSP00000417328:H257N;ENSP00000417980:H257N	ENSP00000334476:H226N	H	+	1	0	EHMT1	139742748	1.000000	0.71417	0.993000	0.49108	0.974000	0.67602	4.594000	0.61041	2.705000	0.92388	0.585000	0.79938	CAT	EHMT1	-	NULL	ENSG00000181090		0.463	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	37	0.00	0	C	NM_024757		140622927	140622927	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
EIF3F	8665	genome.wustl.edu	37	11	8013646	8013646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:8013646G>T	ENST00000533626.1	+	5	1077	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	EIF3F_ENST00000537635.1_Nonsense_Mutation_p.E166*|EIF3F_ENST00000309828.4_Nonsense_Mutation_p.E151*|EIF3F_ENST00000449102.2_Nonsense_Mutation_p.E2*					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTGACATGGAATTTGCTAA	0.453																																						dbGAP											0													56.0	53.0	54.0					11																	8013646		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.451G>T	11.37:g.8013646G>T	ENSP00000431800:p.Glu151*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E166*	ENST00000533626.1	37	c.496	CCDS7785.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.461245	0.97585	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5779	15.588	0.76502	0.0:0.0:1.0:0.0	.	.	.	.	X	151;166;151;101;2	.	ENSP00000310040:E151X	E	+	1	0	EIF3F	7970222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.161000	0.94739	2.452000	0.82932	0.644000	0.83932	GAA	EIF3F	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	ENSG00000175390		0.453	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF3F	HGNC	protein_coding	OTTHUMT00000385713.2	53	0.00	0	G	NM_003754		8013646	8013646	+1	no_errors	ENST00000537635	ensembl	human	known	69_37n	nonsense	42	16.00	8	SNP	1.000	T
EIF3F	8665	genome.wustl.edu	37	11	8013646	8013646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:8013646G>T	ENST00000533626.1	+	5	1077	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	EIF3F_ENST00000537635.1_Nonsense_Mutation_p.E166*|EIF3F_ENST00000309828.4_Nonsense_Mutation_p.E151*|EIF3F_ENST00000449102.2_Nonsense_Mutation_p.E2*					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGTTGACATGGAATTTGCTAA	0.453																																						dbGAP											0													56.0	53.0	54.0					11																	8013646		2201	4296	6497	-	-	-	SO:0001587	stop_gained	0			U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.451G>T	11.37:g.8013646G>T	ENSP00000431800:p.Glu151*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	p.E166*	ENST00000533626.1	37	c.496	CCDS7785.1	11	.	.	.	.	.	.	.	.	.	.	G	37	6.461245	0.97585	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-12.5779	15.588	0.76502	0.0:0.0:1.0:0.0	.	.	.	.	X	151;166;151;101;2	.	ENSP00000310040:E151X	E	+	1	0	EIF3F	7970222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.161000	0.94739	2.452000	0.82932	0.644000	0.83932	GAA	EIF3F	-	pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1	ENSG00000175390		0.453	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF3F	HGNC	protein_coding	OTTHUMT00000385713.2	56	0.00	0	G	NM_003754		8013646	8013646	+1	no_errors	ENST00000537635	ensembl	human	known	69_37n	nonsense	42	16.00	8	SNP	1.000	T
ELMO1	9844	genome.wustl.edu	37	7	37298952	37298952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:37298952G>A	ENST00000310758.4	-	6	894	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q83*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q83*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	83					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGGCGTTCTGAGCCTTATGG	0.493																																						dbGAP											0													76.0	68.0	71.0					7																	37298952		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.247C>T	7.37:g.37298952G>A	ENSP00000312185:p.Gln83*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Q83*	ENST00000310758.4	37	c.247	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.132094	0.98670	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000312185:Q83X	Q	-	1	0	ELMO1	37265477	1.000000	0.71417	0.977000	0.42913	0.179000	0.23085	7.514000	0.81750	2.625000	0.88918	0.591000	0.81541	CAG	ELMO1	-	superfamily_ARM-type_fold	ENSG00000155849		0.493	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	60	0.00	0	G	NM_130442		37298952	37298952	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	nonsense	33	23.26	10	SNP	1.000	A
ELMO1	9844	genome.wustl.edu	37	7	37298952	37298952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:37298952G>A	ENST00000310758.4	-	6	894	c.247C>T	c.(247-249)Cag>Tag	p.Q83*	ELMO1_ENST00000448602.1_Nonsense_Mutation_p.Q83*|ELMO1_ENST00000442504.1_Nonsense_Mutation_p.Q83*	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	83					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGGCGTTCTGAGCCTTATGG	0.493																																						dbGAP											0													76.0	68.0	71.0					7																	37298952		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.247C>T	7.37:g.37298952G>A	ENSP00000312185:p.Gln83*	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Nonsense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.Q83*	ENST00000310758.4	37	c.247	CCDS5449.1	7	.	.	.	.	.	.	.	.	.	.	G	40	8.132094	0.98670	.	.	ENSG00000155849	ENST00000310758;ENST00000442504;ENST00000448602;ENST00000455119;ENST00000455879	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.2477	0.93909	0.0:0.0:1.0:0.0	.	.	.	.	X	83	.	ENSP00000312185:Q83X	Q	-	1	0	ELMO1	37265477	1.000000	0.71417	0.977000	0.42913	0.179000	0.23085	7.514000	0.81750	2.625000	0.88918	0.591000	0.81541	CAG	ELMO1	-	superfamily_ARM-type_fold	ENSG00000155849		0.493	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	37	0.00	0	G	NM_130442		37298952	37298952	-1	no_errors	ENST00000310758	ensembl	human	known	69_37n	nonsense	33	23.26	10	SNP	1.000	A
ELMO2	63916	genome.wustl.edu	37	20	44999061	44999061	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:44999061C>G	ENST00000290246.6	-	20	2079				ELMO2_ENST00000372176.1_Intron|ELMO2_ENST00000445496.2_Intron|ELMO2_ENST00000454865.2_Intron|ELMO2_ENST00000396391.1_Intron|ELMO2_ENST00000352077.2_Intron|ELMO2_ENST00000439931.2_Intron	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCCAGCTACTCAAACTGGCCT	0.453																																						dbGAP											0													176.0	135.0	149.0					20																	44999061		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1884+20G>C	20.37:g.44999061C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Nonstop_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.*360S	ENST00000290246.6	37	c.1079	CCDS13398.1	20																																																																																			ELMO2	-	NULL	ENSG00000062598		0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	63	0.00	0	C	NM_022086		44999061	44999061	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467800	ensembl	human	known	69_37n	nonstop	68	17.07	14	SNP	0.000	G
ELMO2	63916	genome.wustl.edu	37	20	44999061	44999061	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:44999061C>G	ENST00000290246.6	-	20	2079				ELMO2_ENST00000372176.1_Intron|ELMO2_ENST00000445496.2_Intron|ELMO2_ENST00000454865.2_Intron|ELMO2_ENST00000396391.1_Intron|ELMO2_ENST00000352077.2_Intron|ELMO2_ENST00000439931.2_Intron	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2						apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GCCAGCTACTCAAACTGGCCT	0.453																																						dbGAP											0													176.0	135.0	149.0					20																	44999061		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.1884+20G>C	20.37:g.44999061C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Nonstop_Mutation	SNP	pfam_Engulfment_cell_motility_ELMO	p.*360S	ENST00000290246.6	37	c.1079	CCDS13398.1	20																																																																																			ELMO2	-	NULL	ENSG00000062598		0.453	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	74	0.00	0	C	NM_022086		44999061	44999061	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000467800	ensembl	human	known	69_37n	nonstop	68	17.07	14	SNP	0.000	G
EMC1	23065	genome.wustl.edu	37	1	19563660	19563660	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:19563660G>A	ENST00000477853.1	-	12	1327	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	EMC1_ENST00000375199.3_Silent_p.L428L|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.L407L	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	429						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAAAGTAGCAGATGATCCTCT	0.468																																						dbGAP											0													193.0	188.0	189.0					1																	19563660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1285C>T	1.37:g.19563660G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620	p.S162F	ENST00000477853.1	37	c.485	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001246	0.19121	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.92	1.59	0.23543	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	.	1.6072	0.02686	0.2524:0.1389:0.4659:0.1428	.	.	.	.	F	162	.	.	S	-	2	0	KIAA0090	19436247	0.954000	0.32549	0.719000	0.30619	0.986000	0.74619	0.409000	0.21082	0.795000	0.33922	0.655000	0.94253	TCT	EMC1	-	NULL	ENSG00000127463		0.468	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	60	0.00	0	G	NM_015047		19563660	19563660	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000375197	ensembl	human	putative	69_37n	missense	21	43.24	16	SNP	0.654	A
EMC1	23065	genome.wustl.edu	37	1	19563660	19563660	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:19563660G>A	ENST00000477853.1	-	12	1327	c.1285C>T	c.(1285-1287)Ctg>Ttg	p.L429L	EMC1_ENST00000375199.3_Silent_p.L428L|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.L407L	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	429						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											AAAAGTAGCAGATGATCCTCT	0.468																																						dbGAP											0													193.0	188.0	189.0					1																	19563660		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.1285C>T	1.37:g.19563660G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Missense_Mutation	SNP	pfam_DUF1620	p.S162F	ENST00000477853.1	37	c.485	CCDS190.1	1	.	.	.	.	.	.	.	.	.	.	G	9.089	1.001246	0.19121	.	.	ENSG00000127463	ENST00000375197	.	.	.	5.92	1.59	0.23543	.	.	.	.	.	T	0.42944	0.1225	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	T	0.31024	-0.9958	4	.	.	.	.	1.6072	0.02686	0.2524:0.1389:0.4659:0.1428	.	.	.	.	F	162	.	.	S	-	2	0	KIAA0090	19436247	0.954000	0.32549	0.719000	0.30619	0.986000	0.74619	0.409000	0.21082	0.795000	0.33922	0.655000	0.94253	TCT	EMC1	-	NULL	ENSG00000127463		0.468	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EMC1	HGNC	protein_coding	OTTHUMT00000007076.2	55	0.00	0	G	NM_015047		19563660	19563660	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000375197	ensembl	human	putative	69_37n	missense	21	43.24	16	SNP	0.654	A
EMILIN2	84034	genome.wustl.edu	37	18	2891396	2891396	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:2891396G>A	ENST00000254528.3	+	4	1430	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	424					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAAGCCACCAGAATGCTGAAT	0.453																																						dbGAP											0													77.0	75.0	76.0					18																	2891396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1271G>A	18.37:g.2891396G>A	ENSP00000254528:p.Arg424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R424K	ENST00000254528.3	37	c.1271	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909835	0.33721	.	.	ENSG00000132205	ENST00000254528	T	0.03717	3.83	5.39	5.39	0.77823	.	0.137185	0.50627	D	0.000118	T	0.03783	0.0107	L	0.52364	1.645	0.37593	D	0.920242	B	0.33345	0.409	B	0.30716	0.119	T	0.34576	-0.9823	10	0.07990	T	0.79	-26.0991	9.7888	0.40692	0.1529:0.0:0.8471:0.0	.	424	Q9BXX0	EMIL2_HUMAN	K	424	ENSP00000254528:R424K	ENSP00000254528:R424K	R	+	2	0	EMILIN2	2881396	1.000000	0.71417	0.978000	0.43139	0.935000	0.57460	2.629000	0.46485	2.514000	0.84764	0.557000	0.71058	AGA	EMILIN2	-	NULL	ENSG00000132205		0.453	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	24	0.00	0	G	NM_032048		2891396	2891396	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.991	A
EMILIN2	84034	genome.wustl.edu	37	18	2891396	2891396	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:2891396G>A	ENST00000254528.3	+	4	1430	c.1271G>A	c.(1270-1272)aGa>aAa	p.R424K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	424					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GAAGCCACCAGAATGCTGAAT	0.453																																						dbGAP											0													77.0	75.0	76.0					18																	2891396		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1271G>A	18.37:g.2891396G>A	ENSP00000254528:p.Arg424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.R424K	ENST00000254528.3	37	c.1271	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909835	0.33721	.	.	ENSG00000132205	ENST00000254528	T	0.03717	3.83	5.39	5.39	0.77823	.	0.137185	0.50627	D	0.000118	T	0.03783	0.0107	L	0.52364	1.645	0.37593	D	0.920242	B	0.33345	0.409	B	0.30716	0.119	T	0.34576	-0.9823	10	0.07990	T	0.79	-26.0991	9.7888	0.40692	0.1529:0.0:0.8471:0.0	.	424	Q9BXX0	EMIL2_HUMAN	K	424	ENSP00000254528:R424K	ENSP00000254528:R424K	R	+	2	0	EMILIN2	2881396	1.000000	0.71417	0.978000	0.43139	0.935000	0.57460	2.629000	0.46485	2.514000	0.84764	0.557000	0.71058	AGA	EMILIN2	-	NULL	ENSG00000132205		0.453	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	26	0.00	0	G	NM_032048		2891396	2891396	+1	no_errors	ENST00000254528	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.991	A
EP400NL	347918	genome.wustl.edu	37	12	132589564	132589564	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:132589564G>C	ENST00000376625.4	+	1	1025	c.999G>C	c.(997-999)atG>atC	p.M333I	EP400NL_ENST00000392352.1_Missense_Mutation_p.M201I|EP400NL_ENST00000443539.2_Missense_Mutation_p.M201I|EP400NL_ENST00000389560.2_Missense_Mutation_p.M264I|EP400NL_ENST00000361109.5_Missense_Mutation_p.M180I			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	333										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ACACGGGAATGAAGAAGGTTC	0.607																																						dbGAP											0													23.0	29.0	27.0					12																	132589564		692	1578	2270	-	-	-	SO:0001583	missense	0			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.999G>C	12.37:g.132589564G>C	ENSP00000365812:p.Met333Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	NULL	p.M333I	ENST00000376625.4	37	c.999		12	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764590	0.02996	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000407361;ENST00000361109;ENST00000376625	.	.	.	2.98	-0.735	0.11137	.	0.306550	0.17315	U	0.178739	T	0.16685	0.0401	.	.	.	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.003;0.004	T	0.10989	-1.0606	8	0.27785	T	0.31	.	1.0316	0.01539	0.3005:0.1526:0.3918:0.1552	.	180;333;201;333	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	I	264;201;201;201;180;333	.	ENSP00000328997:M265I	M	+	3	0	EP400NL	131155517	0.986000	0.35501	0.034000	0.17996	0.089000	0.18198	0.262000	0.18460	-0.055000	0.13244	0.305000	0.20034	ATG	EP400NL	-	NULL	ENSG00000185684		0.607	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		46	0.00	0	G	NM_182613		132589564	132589564	+1	no_errors	ENST00000376625	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.440	C
EP400NL	347918	genome.wustl.edu	37	12	132589564	132589564	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:132589564G>C	ENST00000376625.4	+	1	1025	c.999G>C	c.(997-999)atG>atC	p.M333I	EP400NL_ENST00000392352.1_Missense_Mutation_p.M201I|EP400NL_ENST00000443539.2_Missense_Mutation_p.M201I|EP400NL_ENST00000389560.2_Missense_Mutation_p.M264I|EP400NL_ENST00000361109.5_Missense_Mutation_p.M180I			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	333										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ACACGGGAATGAAGAAGGTTC	0.607																																						dbGAP											0													23.0	29.0	27.0					12																	132589564		692	1578	2270	-	-	-	SO:0001583	missense	0			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.999G>C	12.37:g.132589564G>C	ENSP00000365812:p.Met333Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Missense_Mutation	SNP	NULL	p.M333I	ENST00000376625.4	37	c.999		12	.	.	.	.	.	.	.	.	.	.	G	0.774	-0.764590	0.02996	.	.	ENSG00000185684	ENST00000389560;ENST00000443539;ENST00000392352;ENST00000407361;ENST00000361109;ENST00000376625	.	.	.	2.98	-0.735	0.11137	.	0.306550	0.17315	U	0.178739	T	0.16685	0.0401	.	.	.	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.003;0.004	T	0.10989	-1.0606	8	0.27785	T	0.31	.	1.0316	0.01539	0.3005:0.1526:0.3918:0.1552	.	180;333;201;333	C9JIE5;Q6ZTU2-6;Q6ZTU2-5;Q6ZTU2	.;.;.;E400N_HUMAN	I	264;201;201;201;180;333	.	ENSP00000328997:M265I	M	+	3	0	EP400NL	131155517	0.986000	0.35501	0.034000	0.17996	0.089000	0.18198	0.262000	0.18460	-0.055000	0.13244	0.305000	0.20034	ATG	EP400NL	-	NULL	ENSG00000185684		0.607	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		32	0.00	0	G	NM_182613		132589564	132589564	+1	no_errors	ENST00000376625	ensembl	human	known	69_37n	missense	20	20.00	5	SNP	0.440	C
EPHA6	285220	genome.wustl.edu	37	3	97365037	97365037	+	Silent	SNP	C	C	T	rs377271675		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:97365037C>T	ENST00000514100.1	+	12	1277	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGAGCAGTGCGAGTCCAGCT	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.1035C>T	3.37:g.97365037C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Silent	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.C345	ENST00000514100.1	37	c.1035		3																																																																																			EPHA6	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000080224		0.473	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	34	0.00	0	C	NM_001080448		97365037	97365037	+1	no_errors	ENST00000514100	ensembl	human	novel	69_37n	silent	16	38.46	10	SNP	0.000	T
EPHA6	285220	genome.wustl.edu	37	3	97365037	97365037	+	Silent	SNP	C	C	T	rs377271675		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:97365037C>T	ENST00000514100.1	+	12	1277	c.1035C>T	c.(1033-1035)tgC>tgT	p.C345C	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Intron	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGAGCAGTGCGAGTCCAGCT	0.473																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.1035C>T	3.37:g.97365037C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RAL5	Silent	SNP	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.C345	ENST00000514100.1	37	c.1035		3																																																																																			EPHA6	-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000080224		0.473	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	EPHA6	HGNC	protein_coding	OTTHUMT00000359997.1	28	0.00	0	C	NM_001080448		97365037	97365037	+1	no_errors	ENST00000514100	ensembl	human	novel	69_37n	silent	16	38.46	10	SNP	0.000	T
EPN1	29924	genome.wustl.edu	37	19	56190004	56190004	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:56190004C>T	ENST00000270460.6	+	2	322	c.11C>T	c.(10-12)tCg>tTg	p.S4L	EPN1_ENST00000411543.2_Missense_Mutation_p.S115L|EPN1_ENST00000085079.7_Missense_Mutation_p.S4L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	4					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ATGTCGACCTCGTCCTTGAGG	0.647																																						dbGAP											0													42.0	45.0	44.0					19																	56190004		2195	4294	6489	-	-	-	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.11C>T	19.37:g.56190004C>T	ENSP00000270460:p.Ser4Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.S115L	ENST00000270460.6	37	c.344	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743560	0.69418	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000411543	T;T;T	0.45276	0.9;0.9;0.9	3.95	2.91	0.33838	ENTH/VHS (1);	0.000000	0.64402	D	0.000016	T	0.60064	0.2240	M	0.86651	2.83	0.80722	D	1	P;D;B	0.60160	0.497;0.987;0.257	B;P;B	0.56343	0.082;0.796;0.033	T	0.66532	-0.5900	10	0.62326	D	0.03	-10.6753	10.7629	0.46274	0.0:0.9038:0.0:0.0962	.	115;4;4	Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;EPN1_HUMAN;.	L	4;4;115	ENSP00000270460:S4L;ENSP00000085079:S4L;ENSP00000406209:S115L	ENSP00000085079:S4L	S	+	2	0	EPN1	60881816	1.000000	0.71417	0.785000	0.31869	0.967000	0.64934	7.654000	0.83653	1.023000	0.39654	0.491000	0.48974	TCG	EPN1	-	superfamily_ENTH_VHS	ENSG00000063245		0.647	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	53	0.00	0	C	NM_013333		56190004	56190004	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.996	T
EPN1	29924	genome.wustl.edu	37	19	56190004	56190004	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:56190004C>T	ENST00000270460.6	+	2	322	c.11C>T	c.(10-12)tCg>tTg	p.S4L	EPN1_ENST00000411543.2_Missense_Mutation_p.S115L|EPN1_ENST00000085079.7_Missense_Mutation_p.S4L	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	4					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ATGTCGACCTCGTCCTTGAGG	0.647																																						dbGAP											0													42.0	45.0	44.0					19																	56190004		2195	4294	6489	-	-	-	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.11C>T	19.37:g.56190004C>T	ENSP00000270460:p.Ser4Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.S115L	ENST00000270460.6	37	c.344	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743560	0.69418	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000411543	T;T;T	0.45276	0.9;0.9;0.9	3.95	2.91	0.33838	ENTH/VHS (1);	0.000000	0.64402	D	0.000016	T	0.60064	0.2240	M	0.86651	2.83	0.80722	D	1	P;D;B	0.60160	0.497;0.987;0.257	B;P;B	0.56343	0.082;0.796;0.033	T	0.66532	-0.5900	10	0.62326	D	0.03	-10.6753	10.7629	0.46274	0.0:0.9038:0.0:0.0962	.	115;4;4	Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;EPN1_HUMAN;.	L	4;4;115	ENSP00000270460:S4L;ENSP00000085079:S4L;ENSP00000406209:S115L	ENSP00000085079:S4L	S	+	2	0	EPN1	60881816	1.000000	0.71417	0.785000	0.31869	0.967000	0.64934	7.654000	0.83653	1.023000	0.39654	0.491000	0.48974	TCG	EPN1	-	superfamily_ENTH_VHS	ENSG00000063245		0.647	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	66	0.00	0	C	NM_013333		56190004	56190004	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.996	T
EPPK1	83481	genome.wustl.edu	37	8	144944811	144944811	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:144944811C>G	ENST00000525985.1	-	2	2682	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q				P58107	EPIPL_HUMAN	epiplakin 1	871						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTGCGTCTCCGCCTCCAGC	0.662																																						dbGAP											0													10.0	13.0	12.0					8																	144944811		2142	4242	6384	-	-	-	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2611G>C	8.37:g.144944811C>G	ENSP00000436337:p.Glu871Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E871Q	ENST00000525985.1	37	c.2611		8	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330483	0.60743	.	.	ENSG00000227184	ENST00000525985	T	0.68903	-0.36	4.75	3.87	0.44632	.	.	.	.	.	T	0.59715	0.2214	L	0.39085	1.19	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.49273	-0.8957	9	0.34782	T	0.22	.	12.6565	0.56790	0.0:0.8323:0.1677:0.0	.	871	E9PPU0	.	Q	871	ENSP00000436337:E871Q	ENSP00000436337:E871Q	E	-	1	0	EPPK1	145016799	0.370000	0.25047	0.002000	0.10522	0.003000	0.03518	1.517000	0.35867	1.201000	0.43203	0.655000	0.94253	GAG	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	15	0.00	0	C	NM_031308		144944811	144944811	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.002	G
EPPK1	83481	genome.wustl.edu	37	8	144944811	144944811	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:144944811C>G	ENST00000525985.1	-	2	2682	c.2611G>C	c.(2611-2613)Gag>Cag	p.E871Q				P58107	EPIPL_HUMAN	epiplakin 1	871						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTCTGCGTCTCCGCCTCCAGC	0.662																																						dbGAP											0													10.0	13.0	12.0					8																	144944811		2142	4242	6384	-	-	-	SO:0001583	missense	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2611G>C	8.37:g.144944811C>G	ENSP00000436337:p.Glu871Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.E871Q	ENST00000525985.1	37	c.2611		8	.	.	.	.	.	.	.	.	.	.	C	17.21	3.330483	0.60743	.	.	ENSG00000227184	ENST00000525985	T	0.68903	-0.36	4.75	3.87	0.44632	.	.	.	.	.	T	0.59715	0.2214	L	0.39085	1.19	0.09310	N	1	P	0.49961	0.93	P	0.44860	0.462	T	0.49273	-0.8957	9	0.34782	T	0.22	.	12.6565	0.56790	0.0:0.8323:0.1677:0.0	.	871	E9PPU0	.	Q	871	ENSP00000436337:E871Q	ENSP00000436337:E871Q	E	-	1	0	EPPK1	145016799	0.370000	0.25047	0.002000	0.10522	0.003000	0.03518	1.517000	0.35867	1.201000	0.43203	0.655000	0.94253	GAG	EPPK1	-	smart_Plectin_repeat	ENSG00000227184		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	13	0.00	0	C	NM_031308		144944811	144944811	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.002	G
EPYC	1833	genome.wustl.edu	37	12	91371955	91371955	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:91371955C>G	ENST00000261172.3	-	3	342	c.250G>C	c.(250-252)Gag>Cag	p.E84Q		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	84	Poly-Glu.				female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TCCTCCTCCTCTTCCTCTTCC	0.517											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													109.0	109.0	109.0					12																	91371955		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.250G>C	12.37:g.91371955C>G	ENSP00000261172:p.Glu84Gln	Somatic	1282	WXS	Illumina GAIIx	Phase_IV	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E84Q	ENST00000261172.3	37	c.250	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	C	9.178	1.022800	0.19433	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.69040	0.33;-0.37	5.07	3.0	0.34707	.	0.709848	0.14203	N	0.334587	T	0.49338	0.1551	L	0.29908	0.895	0.33945	D	0.643736	B	0.30455	0.28	B	0.23852	0.049	T	0.51180	-0.8738	10	0.15952	T	0.53	.	10.6858	0.45841	0.0:0.8292:0.0:0.1708	.	84	Q99645	EPYC_HUMAN	Q	84	ENSP00000261172:E84Q;ENSP00000448272:E84Q	ENSP00000261172:E84Q	E	-	1	0	EPYC	89896086	0.191000	0.23288	0.312000	0.25196	0.224000	0.24922	1.568000	0.36418	0.506000	0.28125	0.555000	0.69702	GAG	EPYC	-	NULL	ENSG00000083782		0.517	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	51	0.00	0	C	NM_004950		91371955	91371955	-1	no_errors	ENST00000261172	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.953	G
EVI5	7813	genome.wustl.edu	37	1	93029229	93029229	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:93029229C>T	ENST00000370331.1	-	17	2097	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.L707L|EVI5_ENST00000540033.1_Silent_p.L696L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	696	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTGATCTTTCAGTTCCCCAA	0.348																																						dbGAP											0													228.0	211.0	217.0					1																	93029229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2088G>A	1.37:g.93029229C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L707	ENST00000370331.1	37	c.2121	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	36	0.00	0	C	NM_005665		93029229	93029229	-1	no_errors	ENST00000543509	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	1.000	T
EVI5	7813	genome.wustl.edu	37	1	93029229	93029229	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:93029229C>T	ENST00000370331.1	-	17	2097	c.2088G>A	c.(2086-2088)ctG>ctA	p.L696L	EVI5_ENST00000491940.1_5'UTR|EVI5_ENST00000543509.1_Silent_p.L707L|EVI5_ENST00000540033.1_Silent_p.L696L	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	696	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TCTGATCTTTCAGTTCCCCAA	0.348																																						dbGAP											0													228.0	211.0	217.0					1																	93029229		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.2088G>A	1.37:g.93029229C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKX8|B9A6J0|Q9H1Y9	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L707	ENST00000370331.1	37	c.2121	CCDS30774.1	1																																																																																			EVI5	-	NULL	ENSG00000067208		0.348	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVI5	HGNC	protein_coding	OTTHUMT00000030047.1	49	0.00	0	C	NM_005665		93029229	93029229	-1	no_errors	ENST00000543509	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	1.000	T
EVPL	2125	genome.wustl.edu	37	17	74019586	74019586	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:74019586C>G	ENST00000301607.3	-	3	601	c.348G>C	c.(346-348)gaG>gaC	p.E116D	EVPL_ENST00000586740.1_Missense_Mutation_p.E116D	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	116	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCACTCCTTCTCAATCTCCT	0.662																																						dbGAP											0													33.0	42.0	39.0					17																	74019586		2199	4299	6498	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.348G>C	17.37:g.74019586C>G	ENSP00000301607:p.Glu116Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E116D	ENST00000301607.3	37	c.348	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514783	0.64634	.	.	ENSG00000167880	ENST00000301607	T	0.22539	1.95	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.40543	1.245	0.42985	D	0.994472	D;P	0.67145	0.996;0.898	D;P	0.63877	0.919;0.674	T	0.02047	-1.1223	10	0.23302	T	0.38	-38.8402	8.9528	0.35799	0.0:0.8322:0.0:0.1678	.	116;116	B7ZLH8;Q92817	.;EVPL_HUMAN	D	116	ENSP00000301607:E116D	ENSP00000301607:E116D	E	-	3	2	EVPL	71531181	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.334000	0.33827	2.293000	0.77203	0.561000	0.74099	GAG	EVPL	-	NULL	ENSG00000167880		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	109	0.00	0	C	NM_001988		74019586	74019586	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	G
EVPL	2125	genome.wustl.edu	37	17	74019586	74019586	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:74019586C>G	ENST00000301607.3	-	3	601	c.348G>C	c.(346-348)gaG>gaC	p.E116D	EVPL_ENST00000586740.1_Missense_Mutation_p.E116D	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	116	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCACTCCTTCTCAATCTCCT	0.662																																						dbGAP											0													33.0	42.0	39.0					17																	74019586		2199	4299	6498	-	-	-	SO:0001583	missense	0			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.348G>C	17.37:g.74019586C>G	ENSP00000301607:p.Glu116Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUV5	Missense_Mutation	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E116D	ENST00000301607.3	37	c.348	CCDS11737.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.514783	0.64634	.	.	ENSG00000167880	ENST00000301607	T	0.22539	1.95	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.29423	0.0733	L	0.40543	1.245	0.42985	D	0.994472	D;P	0.67145	0.996;0.898	D;P	0.63877	0.919;0.674	T	0.02047	-1.1223	10	0.23302	T	0.38	-38.8402	8.9528	0.35799	0.0:0.8322:0.0:0.1678	.	116;116	B7ZLH8;Q92817	.;EVPL_HUMAN	D	116	ENSP00000301607:E116D	ENSP00000301607:E116D	E	-	3	2	EVPL	71531181	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	1.334000	0.33827	2.293000	0.77203	0.561000	0.74099	GAG	EVPL	-	NULL	ENSG00000167880		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	100	0.00	0	C	NM_001988		74019586	74019586	-1	no_errors	ENST00000301607	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	G
EXD3	54932	genome.wustl.edu	37	9	140243649	140243649	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:140243649C>G	ENST00000340951.4	-	16	1938	c.1743G>C	c.(1741-1743)ggG>ggC	p.G581G	EXD3_ENST00000342129.4_Silent_p.G261G	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCCTCCGGCTCCCAGCCAGGT	0.701																																						dbGAP											0													13.0	17.0	16.0					9																	140243649		1965	4146	6111	-	-	-	SO:0001819	synonymous_variant	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1743G>C	9.37:g.140243649C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M1|Q8IXT8	Silent	SNP	pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.G581	ENST00000340951.4	37	c.1743	CCDS48066.1	9																																																																																			EXD3	-	superfamily_RNaseH-like_dom	ENSG00000187609		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	81	0.00	0	C	NM_017820		140243649	140243649	-1	no_errors	ENST00000340951	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.019	G
EXD3	54932	genome.wustl.edu	37	9	140243649	140243649	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:140243649C>G	ENST00000340951.4	-	16	1938	c.1743G>C	c.(1741-1743)ggG>ggC	p.G581G	EXD3_ENST00000342129.4_Silent_p.G261G	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0										NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GCCTCCGGCTCCCAGCCAGGT	0.701																																						dbGAP											0													13.0	17.0	16.0					9																	140243649		1965	4146	6111	-	-	-	SO:0001819	synonymous_variant	0				CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1743G>C	9.37:g.140243649C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M1|Q8IXT8	Silent	SNP	pfam_DUF82,pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom	p.G581	ENST00000340951.4	37	c.1743	CCDS48066.1	9																																																																																			EXD3	-	superfamily_RNaseH-like_dom	ENSG00000187609		0.701	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXD3	HGNC	protein_coding	OTTHUMT00000343182.1	78	0.00	0	C	NM_017820		140243649	140243649	-1	no_errors	ENST00000340951	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.019	G
FAHD2A	51011	genome.wustl.edu	37	2	96072859	96072859	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:96072859C>T	ENST00000233379.4	+	3	569	c.416C>T	c.(415-417)tCc>tTc	p.S139F	FAHD2A_ENST00000447036.1_Missense_Mutation_p.S139F	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	139							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TTTGCCAGCTCCATCGTGGGG	0.572																																						dbGAP											0													82.0	75.0	77.0					2																	96072859		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.416C>T	2.37:g.96072859C>T	ENSP00000233379:p.Ser139Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3B0	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.S139F	ENST00000233379.4	37	c.416	CCDS2014.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089690	0.76756	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95690	-3.78;-3.78	3.35	3.35	0.38373	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.342101	0.31188	N	0.008083	D	0.97726	0.9254	H	0.95504	3.68	0.39058	D	0.960463	P	0.41265	0.744	P	0.56398	0.797	D	0.99060	1.0830	10	0.87932	D	0	.	8.7591	0.34663	0.0:0.7662:0.2338:0.0	.	139	Q96GK7	FAH2A_HUMAN	F	139	ENSP00000406424:S139F;ENSP00000233379:S139F	ENSP00000233379:S139F	S	+	2	0	FAHD2A	95436586	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.157000	0.42320	1.856000	0.53863	0.561000	0.74099	TCC	FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000115042		0.572	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	142	0.00	0	C	NM_016044		96072859	96072859	+1	no_errors	ENST00000233379	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	1.000	T
FAHD2A	51011	genome.wustl.edu	37	2	96072859	96072859	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:96072859C>T	ENST00000233379.4	+	3	569	c.416C>T	c.(415-417)tCc>tTc	p.S139F	FAHD2A_ENST00000447036.1_Missense_Mutation_p.S139F	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	139							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TTTGCCAGCTCCATCGTGGGG	0.572																																						dbGAP											0													82.0	75.0	77.0					2																	96072859		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF151863	CCDS2014.1	2q11.2	2008-02-05			ENSG00000115042	ENSG00000115042			24252	protein-coding gene	gene with protein product							Standard	NM_016044		Approved	CGI-105	uc002sur.3	Q96GK7	OTTHUMG00000130397	ENST00000233379.4:c.416C>T	2.37:g.96072859C>T	ENSP00000233379:p.Ser139Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y3B0	Missense_Mutation	SNP	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	p.S139F	ENST00000233379.4	37	c.416	CCDS2014.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089690	0.76756	.	.	ENSG00000115042	ENST00000447036;ENST00000233379	D;D	0.95690	-3.78;-3.78	3.35	3.35	0.38373	Fumarylacetoacetase, C-terminal-related (2);Fumarylacetoacetase, C-terminal (1);	0.342101	0.31188	N	0.008083	D	0.97726	0.9254	H	0.95504	3.68	0.39058	D	0.960463	P	0.41265	0.744	P	0.56398	0.797	D	0.99060	1.0830	10	0.87932	D	0	.	8.7591	0.34663	0.0:0.7662:0.2338:0.0	.	139	Q96GK7	FAH2A_HUMAN	F	139	ENSP00000406424:S139F;ENSP00000233379:S139F	ENSP00000233379:S139F	S	+	2	0	FAHD2A	95436586	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.157000	0.42320	1.856000	0.53863	0.561000	0.74099	TCC	FAHD2A	-	pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel	ENSG00000115042		0.572	FAHD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAHD2A	HGNC	protein_coding	OTTHUMT00000252778.1	104	0.00	0	C	NM_016044		96072859	96072859	+1	no_errors	ENST00000233379	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	1.000	T
FAM120AOS	158293	genome.wustl.edu	37	9	96213286	96213286	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:96213286C>G	ENST00000375412.5	-	2	1446				FAM120AOS_ENST00000423591.1_Intron|FAM120A_ENST00000340893.4_5'Flank|FAM120A_ENST00000277165.6_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000333936.5_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand											kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CCTGTACCTTCAGACATTATG	0.542																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.564-405G>C	9.37:g.96213286C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN20	RNA	SNP	-	NULL	ENST00000375412.5	37	NULL	CCDS6705.1	9																																																																																			FAM120AOS	-	-	ENSG00000188938		0.542	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120AOS	HGNC	protein_coding	OTTHUMT00000053154.1	48	0.00	0	C			96213286	96213286	-1	no_errors	ENST00000428152	ensembl	human	known	69_37n	rna	18	41.94	13	SNP	0.036	G
FAM120AOS	158293	genome.wustl.edu	37	9	96213286	96213286	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:96213286C>G	ENST00000375412.5	-	2	1446				FAM120AOS_ENST00000423591.1_Intron|FAM120A_ENST00000340893.4_5'Flank|FAM120A_ENST00000277165.6_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000375389.3_5'Flank|FAM120A_ENST00000333936.5_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand											kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CCTGTACCTTCAGACATTATG	0.542																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.564-405G>C	9.37:g.96213286C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN20	RNA	SNP	-	NULL	ENST00000375412.5	37	NULL	CCDS6705.1	9																																																																																			FAM120AOS	-	-	ENSG00000188938		0.542	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120AOS	HGNC	protein_coding	OTTHUMT00000053154.1	43	0.00	0	C			96213286	96213286	-1	no_errors	ENST00000428152	ensembl	human	known	69_37n	rna	18	41.94	13	SNP	0.036	G
FAM182B	728882	genome.wustl.edu	37	20	25755907	25755907	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:25755907C>T	ENST00000376403.1	-	3	427	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	FAM182B_ENST00000478164.1_5'UTR|FAM182B_ENST00000376404.2_Missense_Mutation_p.E14K			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	17										lung(1)	1						ACTTCGTGTTCCTCCTCCTCC	0.527																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.49G>A	20.37:g.25755907C>T	ENSP00000365585:p.Glu17Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0Q1	Missense_Mutation	SNP	NULL	p.E14K	ENST00000376403.1	37	c.40		20	.	.	.	.	.	.	.	.	.	.	.	2.535	-0.307672	0.05458	.	.	ENSG00000175170	ENST00000376404;ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27938	-1.0059	3	0.23302	T	0.38	.	.	.	.	.	.	.	.	K	14;17	.	ENSP00000365585:E17K	E	-	1	0	FAM182B	25703907	0.468000	0.25839	0.308000	0.25141	0.318000	0.28184	-1.105000	0.03323	0.064000	0.16427	0.064000	0.15345	GAA	FAM182B	-	NULL	ENSG00000175170		0.527	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	39	0.00	0	C	NR_026714		25755907	25755907	-1	no_errors	ENST00000376404	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.312	T
FAM182B	728882	genome.wustl.edu	37	20	25755907	25755907	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:25755907C>T	ENST00000376403.1	-	3	427	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	FAM182B_ENST00000478164.1_5'UTR|FAM182B_ENST00000376404.2_Missense_Mutation_p.E14K			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B	17										lung(1)	1						ACTTCGTGTTCCTCCTCCTCC	0.527																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000376403.1:c.49G>A	20.37:g.25755907C>T	ENSP00000365585:p.Glu17Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0Q1	Missense_Mutation	SNP	NULL	p.E14K	ENST00000376403.1	37	c.40		20	.	.	.	.	.	.	.	.	.	.	.	2.535	-0.307672	0.05458	.	.	ENSG00000175170	ENST00000376404;ENST00000376403	.	.	.	.	.	.	.	.	.	.	.	T	0.22898	0.0553	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27938	-1.0059	3	0.23302	T	0.38	.	.	.	.	.	.	.	.	K	14;17	.	ENSP00000365585:E17K	E	-	1	0	FAM182B	25703907	0.468000	0.25839	0.308000	0.25141	0.318000	0.28184	-1.105000	0.03323	0.064000	0.16427	0.064000	0.15345	GAA	FAM182B	-	NULL	ENSG00000175170		0.527	FAM182B-003	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	FAM182B	HGNC	protein_coding	OTTHUMT00000078463.2	35	0.00	0	C	NR_026714		25755907	25755907	-1	no_errors	ENST00000376404	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.312	T
FAM20C	56975	genome.wustl.edu	37	7	195707	195707	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:195707C>T	ENST00000313766.5	+	2	990	c.759C>T	c.(757-759)ctC>ctT	p.L253L	FAM20C_ENST00000471328.1_3'UTR|AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	253					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TGCACGACCTCAGCTCCCAGA	0.612																																						dbGAP											0													61.0	65.0	64.0					7																	195707		2092	4204	6296	-	-	-	SO:0001819	synonymous_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.759C>T	7.37:g.195707C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	pfam_DUF1193	p.L253	ENST00000313766.5	37	c.759	CCDS47522.1	7																																																																																			FAM20C	-	NULL	ENSG00000177706		0.612	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2	47	0.00	0	C	NM_020223		195707	195707	+1	no_errors	ENST00000313766	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.218	T
FAM20C	56975	genome.wustl.edu	37	7	195707	195707	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:195707C>T	ENST00000313766.5	+	2	990	c.759C>T	c.(757-759)ctC>ctT	p.L253L	FAM20C_ENST00000471328.1_3'UTR|AC093627.12_ENST00000467050.1_RNA	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	253					dentinogenesis (GO:0097187)|enamel mineralization (GO:0070166)|odontoblast differentiation (GO:0071895)|osteoclast maturation (GO:0036179)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|protein phosphorylation (GO:0006468)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of phosphorus metabolic process (GO:0051174)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TGCACGACCTCAGCTCCCAGA	0.612																																						dbGAP											0													61.0	65.0	64.0					7																	195707		2092	4204	6296	-	-	-	SO:0001819	synonymous_variant	0			BC040074	CCDS47522.1	7p22.3	2012-11-29			ENSG00000177706	ENSG00000177706			22140	protein-coding gene	gene with protein product	"""dentin matrix protein 4"""	611061				17369251, 17924334	Standard	NM_020223		Approved	IMAGE:4942737, DKFZp547D065, DMP4	uc003sip.3	Q8IXL6	OTTHUMG00000151401	ENST00000313766.5:c.759C>T	7.37:g.195707C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D2Q5|L8B5W8|Q5I0W9|Q7Z4I0|Q9NPT2	Silent	SNP	pfam_DUF1193	p.L253	ENST00000313766.5	37	c.759	CCDS47522.1	7																																																																																			FAM20C	-	NULL	ENSG00000177706		0.612	FAM20C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM20C	HGNC	protein_coding	OTTHUMT00000322476.2	37	0.00	0	C	NM_020223		195707	195707	+1	no_errors	ENST00000313766	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	0.218	T
FAM46B	115572	genome.wustl.edu	37	1	27333097	27333097	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:27333097C>G	ENST00000289166.5	-	2	781	c.616G>C	c.(616-618)Gac>Cac	p.D206H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	206										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CTCACCGAGTCCACAAACTTG	0.537																																						dbGAP											0													119.0	117.0	117.0					1																	27333097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.616G>C	1.37:g.27333097C>G	ENSP00000289166:p.Asp206His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF1693	p.D206H	ENST00000289166.5	37	c.616	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292935	0.80914	.	.	ENSG00000158246	ENST00000289166	T	0.28454	1.61	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.58978	-0.7540	10	0.56958	D	0.05	-34.6194	18.9114	0.92487	0.0:1.0:0.0:0.0	.	206	Q96A09	FA46B_HUMAN	H	206	ENSP00000289166:D206H	ENSP00000289166:D206H	D	-	1	0	FAM46B	27205684	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.934000	0.70138	2.698000	0.92095	0.561000	0.74099	GAC	FAM46B	-	pfam_DUF1693	ENSG00000158246		0.537	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	48	0.00	0	C	NM_052943		27333097	27333097	-1	no_errors	ENST00000289166	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	G
FAM46B	115572	genome.wustl.edu	37	1	27333097	27333097	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:27333097C>G	ENST00000289166.5	-	2	781	c.616G>C	c.(616-618)Gac>Cac	p.D206H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	206										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CTCACCGAGTCCACAAACTTG	0.537																																						dbGAP											0													119.0	117.0	117.0					1																	27333097		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122816	CCDS294.2	1p35.3	2008-02-05			ENSG00000158246	ENSG00000158246			28273	protein-coding gene	gene with protein product						12477932	Standard	NM_052943		Approved	MGC16491	uc010ofj.2	Q96A09	OTTHUMG00000004278	ENST00000289166.5:c.616G>C	1.37:g.27333097C>G	ENSP00000289166:p.Asp206His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF1693	p.D206H	ENST00000289166.5	37	c.616	CCDS294.2	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292935	0.80914	.	.	ENSG00000158246	ENST00000289166	T	0.28454	1.61	5.2	5.2	0.72013	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	T	0.58978	-0.7540	10	0.56958	D	0.05	-34.6194	18.9114	0.92487	0.0:1.0:0.0:0.0	.	206	Q96A09	FA46B_HUMAN	H	206	ENSP00000289166:D206H	ENSP00000289166:D206H	D	-	1	0	FAM46B	27205684	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.934000	0.70138	2.698000	0.92095	0.561000	0.74099	GAC	FAM46B	-	pfam_DUF1693	ENSG00000158246		0.537	FAM46B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46B	HGNC	protein_coding	OTTHUMT00000012347.2	42	0.00	0	C	NM_052943		27333097	27333097	-1	no_errors	ENST00000289166	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	1.000	G
FAM98C	147965	genome.wustl.edu	37	19	38893966	38893966	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:38893966C>T	ENST00000252530.5	+	2	84				FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C											endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCGCTGCCTCGGTCCCCACA	0.721																																						dbGAP											0													5.0	7.0	7.0					19																	38893966		1897	4053	5950	-	-	-	SO:0001627	intron_variant	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.66-12C>T	19.37:g.38893966C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S53L	ENST00000252530.5	37	c.158	CCDS42562.1	19																																																																																			FAM98C	-	NULL	ENSG00000130244		0.721	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	45	0.00	0	C	NM_174905		38893966	38893966	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000589408	ensembl	human	putative	69_37n	missense	27	22.86	8	SNP	0.069	T
FAM98C	147965	genome.wustl.edu	37	19	38893966	38893966	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:38893966C>T	ENST00000252530.5	+	2	84				FAM98C_ENST00000588262.1_Intron|FAM98C_ENST00000343358.7_Intron	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C											endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCCGCTGCCTCGGTCCCCACA	0.721																																						dbGAP											0													5.0	7.0	7.0					19																	38893966		1897	4053	5950	-	-	-	SO:0001627	intron_variant	0				CCDS42562.1	19q13.2	2008-02-05				ENSG00000130244			27119	protein-coding gene	gene with protein product						12477932	Standard	NM_174905		Approved	FLJ44669	uc002oin.1	Q17RN3		ENST00000252530.5:c.66-12C>T	19.37:g.38893966C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMW3|Q66K45	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.S53L	ENST00000252530.5	37	c.158	CCDS42562.1	19																																																																																			FAM98C	-	NULL	ENSG00000130244		0.721	FAM98C-001	KNOWN	basic|CCDS	protein_coding	FAM98C	HGNC	protein_coding	OTTHUMT00000459222.1	31	0.00	0	C	NM_174905		38893966	38893966	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000589408	ensembl	human	putative	69_37n	missense	27	22.86	8	SNP	0.069	T
FAN1	22909	genome.wustl.edu	37	15	31212838	31212838	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:31212838G>C	ENST00000362065.4	+	7	2325	c.2034G>C	c.(2032-2034)caG>caC	p.Q678H		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	678					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAATACTGCAGAGACTTCACA	0.473								Direct reversal of damage																														dbGAP											0													147.0	136.0	139.0					15																	31212838		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2034G>C	15.37:g.31212838G>C	ENSP00000354497:p.Gln678His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.Q678H	ENST00000362065.4	37	c.2034	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045602	0.75846	.	.	ENSG00000198690	ENST00000362065	T	0.40476	1.03	5.89	4.97	0.65823	.	0.054573	0.85682	D	0.000000	T	0.62612	0.2442	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.65987	0.907;0.94	T	0.66015	-0.6028	10	0.72032	D	0.01	-19.3572	11.5801	0.50887	0.1369:0.0:0.8631:0.0	.	678;678	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	H	678	ENSP00000354497:Q678H	ENSP00000354497:Q678H	Q	+	3	2	FAN1	29000130	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.992000	0.49417	2.790000	0.95986	0.655000	0.94253	CAG	FAN1	-	NULL	ENSG00000198690		0.473	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	45	0.00	0	G	NM_014967		31212838	31212838	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	C
FAN1	22909	genome.wustl.edu	37	15	31212838	31212838	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:31212838G>C	ENST00000362065.4	+	7	2325	c.2034G>C	c.(2032-2034)caG>caC	p.Q678H		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	678					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						AAATACTGCAGAGACTTCACA	0.473								Direct reversal of damage																														dbGAP											0													147.0	136.0	139.0					15																	31212838		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.2034G>C	15.37:g.31212838G>C	ENSP00000354497:p.Gln678His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.Q678H	ENST00000362065.4	37	c.2034	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045602	0.75846	.	.	ENSG00000198690	ENST00000362065	T	0.40476	1.03	5.89	4.97	0.65823	.	0.054573	0.85682	D	0.000000	T	0.62612	0.2442	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.998;0.999	P;D	0.65987	0.907;0.94	T	0.66015	-0.6028	10	0.72032	D	0.01	-19.3572	11.5801	0.50887	0.1369:0.0:0.8631:0.0	.	678;678	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	H	678	ENSP00000354497:Q678H	ENSP00000354497:Q678H	Q	+	3	2	FAN1	29000130	1.000000	0.71417	0.997000	0.53966	0.959000	0.62525	2.992000	0.49417	2.790000	0.95986	0.655000	0.94253	CAG	FAN1	-	NULL	ENSG00000198690		0.473	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	46	0.00	0	G	NM_014967		31212838	31212838	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	1.000	C
FANCD2	2177	genome.wustl.edu	37	3	10138113	10138113	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:10138113G>C	ENST00000419585.1	+	42	4303	c.4142G>C	c.(4141-4143)aGa>aCa	p.R1381T	FANCD2_ENST00000383807.1_Missense_Mutation_p.R1381T|FANCD2OS_ENST00000436517.1_5'Flank|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.R1381T|FANCD2_ENST00000383806.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1381					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AACAATTGTAGAGAGGCTTTC	0.468			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													109.0	104.0	106.0					3																	10138113		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4142G>C	3.37:g.10138113G>C	ENSP00000398754:p.Arg1381Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1381T	ENST00000419585.1	37	c.4142	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000953	0.54254	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.52295	0.67;0.67;0.67	5.74	3.73	0.42828	.	0.107003	0.64402	D	0.000003	T	0.39489	0.1080	L	0.60455	1.87	0.80722	D	1	P;P	0.39665	0.682;0.682	B;B	0.39531	0.302;0.158	T	0.20806	-1.0264	10	0.30854	T	0.27	.	5.1422	0.14965	0.3381:0.0:0.6619:0.0	.	1381;1381	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	T	1381	ENSP00000287647:R1381T;ENSP00000373318:R1381T;ENSP00000398754:R1381T	ENSP00000287647:R1381T	R	+	2	0	FANCD2	10113113	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	5.200000	0.65158	1.466000	0.48025	0.650000	0.86243	AGA	FANCD2	-	NULL	ENSG00000144554		0.468	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	52	0.00	0	G			10138113	10138113	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	31	25.58	11	SNP	1.000	C
FANCD2	2177	genome.wustl.edu	37	3	10138113	10138113	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:10138113G>C	ENST00000419585.1	+	42	4303	c.4142G>C	c.(4141-4143)aGa>aCa	p.R1381T	FANCD2_ENST00000383807.1_Missense_Mutation_p.R1381T|FANCD2OS_ENST00000436517.1_5'Flank|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000287647.3_Missense_Mutation_p.R1381T|FANCD2_ENST00000383806.1_3'UTR			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1381					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AACAATTGTAGAGAGGCTTTC	0.468			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													109.0	104.0	106.0					3																	10138113		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4142G>C	3.37:g.10138113G>C	ENSP00000398754:p.Arg1381Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R1381T	ENST00000419585.1	37	c.4142	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	16.01	3.000953	0.54254	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000419585	T;T;T	0.52295	0.67;0.67;0.67	5.74	3.73	0.42828	.	0.107003	0.64402	D	0.000003	T	0.39489	0.1080	L	0.60455	1.87	0.80722	D	1	P;P	0.39665	0.682;0.682	B;B	0.39531	0.302;0.158	T	0.20806	-1.0264	10	0.30854	T	0.27	.	5.1422	0.14965	0.3381:0.0:0.6619:0.0	.	1381;1381	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	T	1381	ENSP00000287647:R1381T;ENSP00000373318:R1381T;ENSP00000398754:R1381T	ENSP00000287647:R1381T	R	+	2	0	FANCD2	10113113	1.000000	0.71417	0.993000	0.49108	0.931000	0.56810	5.200000	0.65158	1.466000	0.48025	0.650000	0.86243	AGA	FANCD2	-	NULL	ENSG00000144554		0.468	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	38	0.00	0	G			10138113	10138113	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	31	25.58	11	SNP	1.000	C
FANCI	55215	genome.wustl.edu	37	15	89835994	89835994	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:89835994G>A	ENST00000310775.7	+	21	2154	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	FANCI_ENST00000300027.8_Missense_Mutation_p.E690K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	690					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCagggagaggaggaagagga	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													114.0	111.0	112.0					15																	89835994		2200	4299	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2068G>A	15.37:g.89835994G>A	ENSP00000310842:p.Glu690Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.E690K	ENST00000310775.7	37	c.2068	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663642	0.67700	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.30448	1.53;1.53;1.53	3.47	2.55	0.30701	.	0.045379	0.85682	D	0.000000	T	0.25044	0.0608	L	0.54323	1.7	0.80722	D	1	P;P;P	0.36465	0.554;0.493;0.493	B;B;B	0.33620	0.167;0.109;0.109	T	0.03840	-1.0999	10	0.21014	T	0.42	-1.204	10.8003	0.46485	0.095:0.0:0.905:0.0	.	690;690;690	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	690	ENSP00000300027:E690K;ENSP00000310842:E690K;ENSP00000413249:E690K	ENSP00000300027:E690K	E	+	1	0	FANCI	87636998	1.000000	0.71417	0.397000	0.26308	0.941000	0.58515	8.333000	0.90026	0.770000	0.33336	0.561000	0.74099	GAG	FANCI	-	NULL	ENSG00000140525		0.393	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	32	0.00	0	G	NM_018193		89835994	89835994	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	A
FANCI	55215	genome.wustl.edu	37	15	89835994	89835994	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:89835994G>A	ENST00000310775.7	+	21	2154	c.2068G>A	c.(2068-2070)Gag>Aag	p.E690K	FANCI_ENST00000300027.8_Missense_Mutation_p.E690K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	690					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCagggagaggaggaagagga	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP											0													114.0	111.0	112.0					15																	89835994		2200	4299	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.2068G>A	15.37:g.89835994G>A	ENSP00000310842:p.Glu690Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	NULL	p.E690K	ENST00000310775.7	37	c.2068	CCDS45346.1	15	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663642	0.67700	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.30448	1.53;1.53;1.53	3.47	2.55	0.30701	.	0.045379	0.85682	D	0.000000	T	0.25044	0.0608	L	0.54323	1.7	0.80722	D	1	P;P;P	0.36465	0.554;0.493;0.493	B;B;B	0.33620	0.167;0.109;0.109	T	0.03840	-1.0999	10	0.21014	T	0.42	-1.204	10.8003	0.46485	0.095:0.0:0.905:0.0	.	690;690;690	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	690	ENSP00000300027:E690K;ENSP00000310842:E690K;ENSP00000413249:E690K	ENSP00000300027:E690K	E	+	1	0	FANCI	87636998	1.000000	0.71417	0.397000	0.26308	0.941000	0.58515	8.333000	0.90026	0.770000	0.33336	0.561000	0.74099	GAG	FANCI	-	NULL	ENSG00000140525		0.393	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCI	HGNC	protein_coding	OTTHUMT00000421140.1	31	0.00	0	G	NM_018193		89835994	89835994	+1	no_errors	ENST00000310775	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	A
FASN	2194	genome.wustl.edu	37	17	80039175	80039175	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:80039175G>A	ENST00000306749.2	-	38	6678	c.6460C>T	c.(6460-6462)Ctg>Ttg	p.L2154L	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2154	Acyl carrier. {ECO:0000255|PROSITE- ProRule:PRU00258}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCGAGTCCAGGCCCAGGTCC	0.667																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													23.0	21.0	22.0					17																	80039175		2174	4262	6436	-	-	-	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.6460C>T	17.37:g.80039175G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L2154	ENST00000306749.2	37	c.6460	CCDS11801.1	17																																																																																			FASN	-	pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	ENSG00000169710		0.667	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	56	0.00	0	G	NM_004104		80039175	80039175	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	silent	17	19.05	4	SNP	1.000	A
FASN	2194	genome.wustl.edu	37	17	80051518	80051518	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:80051518C>T	ENST00000306749.2	-	4	628	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	137	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CATCATCGCTCGCTGGCAGCC	0.662																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													63.0	65.0	64.0					17																	80051518		2200	4299	6499	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.410G>A	17.37:g.80051518C>T	ENSP00000304592:p.Arg137Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R137Q	ENST00000306749.2	37	c.410	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736900	0.89482	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.62	4.62	0.57501	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.180848	0.45126	D	0.000396	T	0.43545	0.1252	L	0.56124	1.755	0.49130	D	0.999751	D	0.64830	0.994	P	0.53185	0.72	T	0.43653	-0.9378	10	0.56958	D	0.05	-20.1304	17.0675	0.86563	0.0:1.0:0.0:0.0	.	137	P49327	FAS_HUMAN	Q	137	ENSP00000304592:R137Q	ENSP00000304592:R137Q	R	-	2	0	FASN	77644807	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	4.736000	0.62059	2.124000	0.65301	0.561000	0.74099	CGA	FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom	ENSG00000169710		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	78	0.00	0	C	NM_004104		80051518	80051518	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	0.996	T
FASN	2194	genome.wustl.edu	37	17	80051518	80051518	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:80051518C>T	ENST00000306749.2	-	4	628	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	137	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CATCATCGCTCGCTGGCAGCC	0.662																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													63.0	65.0	64.0					17																	80051518		2200	4299	6499	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.410G>A	17.37:g.80051518C>T	ENSP00000304592:p.Arg137Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R137Q	ENST00000306749.2	37	c.410	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736900	0.89482	.	.	ENSG00000169710	ENST00000306749	T	0.27402	1.67	4.62	4.62	0.57501	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.180848	0.45126	D	0.000396	T	0.43545	0.1252	L	0.56124	1.755	0.49130	D	0.999751	D	0.64830	0.994	P	0.53185	0.72	T	0.43653	-0.9378	10	0.56958	D	0.05	-20.1304	17.0675	0.86563	0.0:1.0:0.0:0.0	.	137	P49327	FAS_HUMAN	Q	137	ENSP00000304592:R137Q	ENSP00000304592:R137Q	R	-	2	0	FASN	77644807	1.000000	0.71417	0.916000	0.36221	0.982000	0.71751	4.736000	0.62059	2.124000	0.65301	0.561000	0.74099	CGA	FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom	ENSG00000169710		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	66	0.00	0	C	NM_004104		80051518	80051518	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	0.996	T
FBN3	84467	genome.wustl.edu	37	19	8182119	8182119	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:8182119C>T	ENST00000600128.1	-	28	3934	c.3520G>A	c.(3520-3522)Gag>Aag	p.E1174K	FBN3_ENST00000270509.2_Missense_Mutation_p.E1174K|FBN3_ENST00000601739.1_Missense_Mutation_p.E1174K			Q75N90	FBN3_HUMAN	fibrillin 3	1174	EGF-like 16; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TAGCTGCCCTCAGTGTTAATA	0.627																																						dbGAP											0													86.0	69.0	75.0					19																	8182119		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3520G>A	19.37:g.8182119C>T	ENSP00000470498:p.Glu1174Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.E1174K	ENST00000600128.1	37	c.3520	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408313	0.42715	.	.	ENSG00000142449	ENST00000270509	D	0.96265	-3.96	3.48	2.42	0.29668	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.061993	0.64402	N	0.000007	D	0.92381	0.7582	L	0.41027	1.25	0.53688	D	0.999974	B	0.10296	0.003	B	0.12837	0.008	D	0.86690	0.1922	10	0.29301	T	0.29	.	10.8912	0.46996	0.0:0.9045:0.0:0.0955	.	1174	Q75N90	FBN3_HUMAN	K	1174	ENSP00000270509:E1174K	ENSP00000270509:E1174K	E	-	1	0	FBN3	8088119	0.958000	0.32768	0.507000	0.27676	0.590000	0.36582	2.218000	0.42889	0.580000	0.29522	0.313000	0.20887	GAG	FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin	ENSG00000142449		0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	53	0.00	0	C	NM_032447		8182119	8182119	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	0.996	T
FCGBP	8857	genome.wustl.edu	37	19	40421295	40421295	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:40421295C>G	ENST00000221347.6	-	5	2633	c.2626G>C	c.(2626-2628)Gac>Cac	p.D876H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	876	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGGCCGTCGAAGCTCACA	0.677																																						dbGAP											0													27.0	27.0	27.0					19																	40421295		2202	4300	6502	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2626G>C	19.37:g.40421295C>G	ENSP00000221347:p.Asp876His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.D876H	ENST00000221347.6	37	c.2626	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416004	0.83449	.	.	ENSG00000090920	ENST00000221347	T	0.78816	-1.21	4.59	3.53	0.40419	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000001	D	0.91116	0.7203	H	0.96489	3.83	0.42886	D	0.994185	D	0.89917	1.0	D	0.97110	1.0	D	0.93354	0.6721	10	0.87932	D	0	.	13.317	0.60413	0.1593:0.8407:0.0:0.0	.	876	Q9Y6R7	FCGBP_HUMAN	H	876	ENSP00000221347:D876H	ENSP00000221347:D876H	D	-	1	0	FCGBP	45113135	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	5.974000	0.70465	1.048000	0.40298	0.491000	0.48974	GAC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	79	0.00	0	C	NM_003890		40421295	40421295	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	G
FCGBP	8857	genome.wustl.edu	37	19	40421295	40421295	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:40421295C>G	ENST00000221347.6	-	5	2633	c.2626G>C	c.(2626-2628)Gac>Cac	p.D876H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	876	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCCGGCCGTCGAAGCTCACA	0.677																																						dbGAP											0													27.0	27.0	27.0					19																	40421295		2202	4300	6502	-	-	-	SO:0001583	missense	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.2626G>C	19.37:g.40421295C>G	ENSP00000221347:p.Asp876His	Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.D876H	ENST00000221347.6	37	c.2626	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	23.4	4.416004	0.83449	.	.	ENSG00000090920	ENST00000221347	T	0.78816	-1.21	4.59	3.53	0.40419	von Willebrand factor, type D domain (3);	0.000000	0.64402	D	0.000001	D	0.91116	0.7203	H	0.96489	3.83	0.42886	D	0.994185	D	0.89917	1.0	D	0.97110	1.0	D	0.93354	0.6721	10	0.87932	D	0	.	13.317	0.60413	0.1593:0.8407:0.0:0.0	.	876	Q9Y6R7	FCGBP_HUMAN	H	876	ENSP00000221347:D876H	ENSP00000221347:D876H	D	-	1	0	FCGBP	45113135	1.000000	0.71417	0.976000	0.42696	0.987000	0.75469	5.974000	0.70465	1.048000	0.40298	0.491000	0.48974	GAC	FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	65	0.00	0	C	NM_003890		40421295	40421295	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	G
FBXO46	23403	genome.wustl.edu	37	19	46215014	46215014	+	Silent	SNP	G	G	C	rs376107599		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:46215014G>C	ENST00000317683.3	-	2	1873	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	580										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGTTATCGTGGAGGCCCAGGC	0.711																																						dbGAP											0													14.0	17.0	16.0					19																	46215014		1920	4101	6021	-	-	-	SO:0001819	synonymous_variant	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1740C>G	19.37:g.46215014G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L580	ENST00000317683.3	37	c.1740	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025328	0.07589	.	.	ENSG00000177051	ENST00000539236	.	.	.	4.56	1.2	0.21068	.	.	.	.	.	T	0.50411	0.1614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51132	-0.8744	5	0.87932	D	0	-12.9372	1.6229	0.02717	0.1651:0.4727:0.1756:0.1865	.	.	.	.	C	27	.	ENSP00000441134:S27C	S	-	2	0	FBXO46	50906854	0.525000	0.26290	0.999000	0.59377	0.746000	0.42486	-0.215000	0.09279	0.261000	0.21753	-0.499000	0.04595	TCC	FBXO46	-	superfamily_F-box_dom_cyclin-like	ENSG00000177051		0.711	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	53	0.00	0	G	XM_371179		46215014	46215014	-1	no_errors	ENST00000317683	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	C
FBXO46	23403	genome.wustl.edu	37	19	46215014	46215014	+	Silent	SNP	G	G	C	rs376107599		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:46215014G>C	ENST00000317683.3	-	2	1873	c.1740C>G	c.(1738-1740)ctC>ctG	p.L580L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	580										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		TGTTATCGTGGAGGCCCAGGC	0.711																																						dbGAP											0													14.0	17.0	16.0					19																	46215014		1920	4101	6021	-	-	-	SO:0001819	synonymous_variant	0			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.1740C>G	19.37:g.46215014G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.L580	ENST00000317683.3	37	c.1740	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	G	3.884	-0.025328	0.07589	.	.	ENSG00000177051	ENST00000539236	.	.	.	4.56	1.2	0.21068	.	.	.	.	.	T	0.50411	0.1614	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51132	-0.8744	5	0.87932	D	0	-12.9372	1.6229	0.02717	0.1651:0.4727:0.1756:0.1865	.	.	.	.	C	27	.	ENSP00000441134:S27C	S	-	2	0	FBXO46	50906854	0.525000	0.26290	0.999000	0.59377	0.746000	0.42486	-0.215000	0.09279	0.261000	0.21753	-0.499000	0.04595	TCC	FBXO46	-	superfamily_F-box_dom_cyclin-like	ENSG00000177051		0.711	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	45	0.00	0	G	XM_371179		46215014	46215014	-1	no_errors	ENST00000317683	ensembl	human	known	69_37n	silent	26	33.33	13	SNP	1.000	C
FCN2	2220	genome.wustl.edu	37	9	137777128	137777128	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:137777128G>C	ENST00000291744.6	+	5	355	c.345G>C	c.(343-345)ctG>ctC	p.L115L	FCN2_ENST00000350339.2_Silent_p.L77L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	115	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGCACTTCCTGAGCGGCTGGC	0.682																																						dbGAP											0													64.0	62.0	62.0					9																	137777128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.345G>C	9.37:g.137777128G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L115	ENST00000291744.6	37	c.345	CCDS6983.1	9																																																																																			FCN2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000160339		0.682	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	144	0.00	0	G	NM_004108		137777128	137777128	+1	no_errors	ENST00000291744	ensembl	human	known	69_37n	silent	62	22.50	18	SNP	0.862	C
FCN2	2220	genome.wustl.edu	37	9	137777128	137777128	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:137777128G>C	ENST00000291744.6	+	5	355	c.345G>C	c.(343-345)ctG>ctC	p.L115L	FCN2_ENST00000350339.2_Silent_p.L77L	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	115	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GGCACTTCCTGAGCGGCTGGC	0.682																																						dbGAP											0													64.0	62.0	62.0					9																	137777128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.345G>C	9.37:g.137777128G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Silent	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Collagen,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.L115	ENST00000291744.6	37	c.345	CCDS6983.1	9																																																																																			FCN2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000160339		0.682	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCN2	HGNC	protein_coding	OTTHUMT00000054960.1	97	0.00	0	G	NM_004108		137777128	137777128	+1	no_errors	ENST00000291744	ensembl	human	known	69_37n	silent	62	22.50	18	SNP	0.862	C
FDFT1	2222	genome.wustl.edu	37	8	11667181	11667181	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:11667181C>T	ENST00000220584.4	+	3	425	c.203C>T	c.(202-204)gCa>gTa	p.A68V	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.A61V|FDFT1_ENST00000443614.2_Missense_Mutation_p.A68V|FDFT1_ENST00000528643.1_5'UTR|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_Missense_Mutation_p.A4V|FDFT1_ENST00000530664.1_Missense_Mutation_p.A4V|FDFT1_ENST00000525777.1_5'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	68					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TACAGCAACGCAGTGTGCATA	0.393																																						dbGAP											0													79.0	74.0	76.0					8																	11667181		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.203C>T	8.37:g.11667181C>T	ENSP00000220584:p.Ala68Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.A68V	ENST00000220584.4	37	c.203	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757817	0.89843	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.91	4.91	0.64330	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.999	D;P;P;P	0.65573	0.936;0.905;0.734;0.905	D	0.91330	0.5089	10	0.54805	T	0.06	-19.0368	17.6242	0.88090	0.0:1.0:0.0:0.0	.	68;125;61;68	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	V	68;68;68;61;4;4	ENSP00000431852:A68V;ENSP00000220584:A68V;ENSP00000390367:A68V;ENSP00000434714:A61V;ENSP00000431749:A4V;ENSP00000432331:A4V	ENSP00000220584:A68V	A	+	2	0	FDFT1	11704590	1.000000	0.71417	0.565000	0.28409	0.199000	0.23934	7.337000	0.79256	2.716000	0.92895	0.491000	0.48974	GCA	FDFT1	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.393	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	39	0.00	0	C			11667181	11667181	+1	no_errors	ENST00000220584	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
FDFT1	2222	genome.wustl.edu	37	8	11667181	11667181	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:11667181C>T	ENST00000220584.4	+	3	425	c.203C>T	c.(202-204)gCa>gTa	p.A68V	FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.A61V|FDFT1_ENST00000443614.2_Missense_Mutation_p.A68V|FDFT1_ENST00000528643.1_5'UTR|FDFT1_ENST00000538689.1_5'UTR|FDFT1_ENST00000528812.1_Missense_Mutation_p.A4V|FDFT1_ENST00000530664.1_Missense_Mutation_p.A4V|FDFT1_ENST00000525777.1_5'UTR	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	68					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TACAGCAACGCAGTGTGCATA	0.393																																						dbGAP											0													79.0	74.0	76.0					8																	11667181		2203	4300	6503	-	-	-	SO:0001583	missense	0			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.203C>T	8.37:g.11667181C>T	ENSP00000220584:p.Ala68Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.A68V	ENST00000220584.4	37	c.203	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757817	0.89843	.	.	ENSG00000079459	ENST00000530337;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	4.91	4.91	0.64330	Terpenoid synthase (2);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.998;0.999	D;P;P;P	0.65573	0.936;0.905;0.734;0.905	D	0.91330	0.5089	10	0.54805	T	0.06	-19.0368	17.6242	0.88090	0.0:1.0:0.0:0.0	.	68;125;61;68	B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;FDFT_HUMAN	V	68;68;68;61;4;4	ENSP00000431852:A68V;ENSP00000220584:A68V;ENSP00000390367:A68V;ENSP00000434714:A61V;ENSP00000431749:A4V;ENSP00000432331:A4V	ENSP00000220584:A68V	A	+	2	0	FDFT1	11704590	1.000000	0.71417	0.565000	0.28409	0.199000	0.23934	7.337000	0.79256	2.716000	0.92895	0.491000	0.48974	GCA	FDFT1	-	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	ENSG00000079459		0.393	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	40	0.00	0	C			11667181	11667181	+1	no_errors	ENST00000220584	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	1.000	T
FGD5	152273	genome.wustl.edu	37	3	14965558	14965558	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:14965558C>T	ENST00000285046.5	+	17	4091	c.3981C>T	c.(3979-3981)ttC>ttT	p.F1327F	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Silent_p.F1086F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1327					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCCCGCTTCTCGGGCAGTG	0.562																																						dbGAP											0													85.0	86.0	86.0					3																	14965558		2040	4204	6244	-	-	-	SO:0001819	synonymous_variant	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3981C>T	3.37:g.14965558C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.F1327	ENST00000285046.5	37	c.3981	CCDS46767.1	3																																																																																			FGD5	-	NULL	ENSG00000154783		0.562	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	46	0.00	0	C	NM_152536		14965558	14965558	+1	no_errors	ENST00000285046	ensembl	human	known	69_37n	silent	16	15.79	3	SNP	0.987	T
FLG	2312	genome.wustl.edu	37	1	152278088	152278088	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:152278088C>T	ENST00000368799.1	-	3	9309	c.9274G>A	c.(9274-9276)Gag>Aag	p.E3092K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3092	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.577									Ichthyosis																													dbGAP											0													101.0	136.0	125.0					1																	152278088		1980	4203	6183	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9274G>A	1.37:g.152278088C>T	ENSP00000357789:p.Glu3092Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E3092K	ENST00000368799.1	37	c.9274	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599202	0.28534	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.1	1.05	0.20165	.	.	.	.	.	T	0.00695	0.0023	M	0.75264	2.295	0.09310	N	1	P	0.47409	0.895	B	0.41332	0.354	T	0.37934	-0.9684	9	0.07325	T	0.83	.	4.2626	0.10747	0.0:0.6217:0.2382:0.1401	.	3092	P20930	FILA_HUMAN	K	3092	ENSP00000357789:E3092K	ENSP00000357789:E3092K	E	-	1	0	FLG	150544712	0.951000	0.32395	0.000000	0.03702	0.035000	0.12851	-0.492000	0.06467	0.133000	0.18654	0.449000	0.29647	GAG	FLG	-	NULL	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	157	0.00	0	C	NM_002016		152278088	152278088	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	127	17.53	27	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152278088	152278088	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:152278088C>T	ENST00000368799.1	-	3	9309	c.9274G>A	c.(9274-9276)Gag>Aag	p.E3092K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3092	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGCCTGCTCATGGCGGGAT	0.577									Ichthyosis																													dbGAP											0													101.0	136.0	125.0					1																	152278088		1980	4203	6183	-	-	-	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9274G>A	1.37:g.152278088C>T	ENSP00000357789:p.Glu3092Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.E3092K	ENST00000368799.1	37	c.9274	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599202	0.28534	.	.	ENSG00000143631	ENST00000368799	T	0.01685	4.69	3.1	1.05	0.20165	.	.	.	.	.	T	0.00695	0.0023	M	0.75264	2.295	0.09310	N	1	P	0.47409	0.895	B	0.41332	0.354	T	0.37934	-0.9684	9	0.07325	T	0.83	.	4.2626	0.10747	0.0:0.6217:0.2382:0.1401	.	3092	P20930	FILA_HUMAN	K	3092	ENSP00000357789:E3092K	ENSP00000357789:E3092K	E	-	1	0	FLG	150544712	0.951000	0.32395	0.000000	0.03702	0.035000	0.12851	-0.492000	0.06467	0.133000	0.18654	0.449000	0.29647	GAG	FLG	-	NULL	ENSG00000143631		0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	147	0.00	0	C	NM_002016		152278088	152278088	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	missense	127	17.53	27	SNP	0.000	T
AC005863.1	0	genome.wustl.edu	37	17	14673390	14673390	+	lincRNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:14673390G>A	ENST00000379640.1	-	0	507																											AACTCCTGCAGAACACAGTGA	0.507																																						dbGAP											0																																										-	-	-			0																															17.37:g.14673390G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000379640.1	37	NULL		17																																																																																			AC005863.1	-	-	ENSG00000205325		0.507	AC005863.1-001	KNOWN	basic	lincRNA	FLJ45831	Clone_based_vega_gene	lincRNA	OTTHUMT00000130001.1	28	0.00	0	G			14673390	14673390	-1	no_errors	ENST00000379640	ensembl	human	known	69_37n	rna	12	29.41	5	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240286597	240286597	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:240286597C>T	ENST00000319653.9	+	2	1964	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	578					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTGATTGCTTCAGGGAACCGT	0.488																																						dbGAP											0													137.0	121.0	126.0					1																	240286597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1734C>T	1.37:g.240286597C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.F578	ENST00000319653.9	37	c.1734	CCDS31069.2	1																																																																																			FMN2	-	pfscan_DEP_dom	ENSG00000155816		0.488	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	95	0.00	0	C	XM_371352		240286597	240286597	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	92	18.58	21	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240286597	240286597	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:240286597C>T	ENST00000319653.9	+	2	1964	c.1734C>T	c.(1732-1734)ttC>ttT	p.F578F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	578					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GTGATTGCTTCAGGGAACCGT	0.488																																						dbGAP											0													137.0	121.0	126.0					1																	240286597		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1734C>T	1.37:g.240286597C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.F578	ENST00000319653.9	37	c.1734	CCDS31069.2	1																																																																																			FMN2	-	pfscan_DEP_dom	ENSG00000155816		0.488	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	102	0.00	0	C	XM_371352		240286597	240286597	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	silent	92	18.58	21	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216299422	216299422	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:216299422C>T	ENST00000359671.1	-	2	539	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	FN1_ENST00000356005.4_Missense_Mutation_p.E92K|FN1_ENST00000354785.4_Missense_Mutation_p.E92K|FN1_ENST00000323926.6_Missense_Mutation_p.E92K|FN1_ENST00000426059.1_Missense_Mutation_p.E92K|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.E92K|FN1_ENST00000336916.4_Missense_Mutation_p.E92K|FN1_ENST00000357009.2_Missense_Mutation_p.E92K|FN1_ENST00000421182.1_Missense_Mutation_p.E92K|FN1_ENST00000345488.5_Missense_Mutation_p.E92K|FN1_ENST00000346544.3_Missense_Mutation_p.E92K|FN1_ENST00000357867.4_Missense_Mutation_p.E92K|FN1_ENST00000446046.1_Missense_Mutation_p.E92K|FN1_ENST00000443816.1_Missense_Mutation_p.E92K			P02751	FINC_HUMAN	fibronectin 1	92	Fibrin- and heparin-binding 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACTTACCTTCAGGTTTACTC	0.378																																						dbGAP											0													170.0	161.0	164.0					2																	216299422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.274G>A	2.37:g.216299422C>T	ENSP00000352696:p.Glu92Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E92K	ENST00000359671.1	37	c.274		2	.	.	.	.	.	.	.	.	.	.	C	32	5.171827	0.94807	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;2.02;2.18;0.73;2.24;1.88;2.32;1.89;2.36;1.93;1.42;0.74;1.31;1.45	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.59985	0.2234	L	0.27053	0.805	0.80722	D	1	B;D;P;P;D;D;D;B;D;D;D	0.64830	0.444;0.993;0.586;0.587;0.993;0.988;0.968;0.142;0.993;0.993;0.994	B;D;P;B;P;P;P;B;P;P;D	0.79108	0.146;0.99;0.46;0.309;0.84;0.696;0.66;0.083;0.84;0.84;0.992	T	0.61783	-0.6992	10	0.72032	D	0.01	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	92;92;92;92;92;92;92;92;92;92;92	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	K	92	ENSP00000394423:E92K;ENSP00000323534:E92K;ENSP00000338200:E92K;ENSP00000350534:E92K;ENSP00000346839:E92K;ENSP00000352696:E92K;ENSP00000265312:E92K;ENSP00000273049:E92K;ENSP00000349509:E92K;ENSP00000410422:E92K;ENSP00000415018:E92K;ENSP00000399538:E92K;ENSP00000348285:E92K;ENSP00000398907:E92K	ENSP00000265313:E92K	E	-	1	0	FN1	216007667	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	4.615000	0.61190	2.802000	0.96397	0.655000	0.94253	GAA	FN1	-	smart_Fibronectin_type1	ENSG00000115414		0.378	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		78	0.00	0	C	NM_212476		216299422	216299422	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	61	27.38	23	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216299422	216299422	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:216299422C>T	ENST00000359671.1	-	2	539	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	FN1_ENST00000356005.4_Missense_Mutation_p.E92K|FN1_ENST00000354785.4_Missense_Mutation_p.E92K|FN1_ENST00000323926.6_Missense_Mutation_p.E92K|FN1_ENST00000426059.1_Missense_Mutation_p.E92K|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000432072.2_Missense_Mutation_p.E92K|FN1_ENST00000336916.4_Missense_Mutation_p.E92K|FN1_ENST00000357009.2_Missense_Mutation_p.E92K|FN1_ENST00000421182.1_Missense_Mutation_p.E92K|FN1_ENST00000345488.5_Missense_Mutation_p.E92K|FN1_ENST00000346544.3_Missense_Mutation_p.E92K|FN1_ENST00000357867.4_Missense_Mutation_p.E92K|FN1_ENST00000446046.1_Missense_Mutation_p.E92K|FN1_ENST00000443816.1_Missense_Mutation_p.E92K			P02751	FINC_HUMAN	fibronectin 1	92	Fibrin- and heparin-binding 1.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CACTTACCTTCAGGTTTACTC	0.378																																						dbGAP											0													170.0	161.0	164.0					2																	216299422		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.274G>A	2.37:g.216299422C>T	ENSP00000352696:p.Glu92Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E92K	ENST00000359671.1	37	c.274		2	.	.	.	.	.	.	.	.	.	.	C	32	5.171827	0.94807	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;2.02;2.18;0.73;2.24;1.88;2.32;1.89;2.36;1.93;1.42;0.74;1.31;1.45	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.59985	0.2234	L	0.27053	0.805	0.80722	D	1	B;D;P;P;D;D;D;B;D;D;D	0.64830	0.444;0.993;0.586;0.587;0.993;0.988;0.968;0.142;0.993;0.993;0.994	B;D;P;B;P;P;P;B;P;P;D	0.79108	0.146;0.99;0.46;0.309;0.84;0.696;0.66;0.083;0.84;0.84;0.992	T	0.61783	-0.6992	10	0.72032	D	0.01	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	92;92;92;92;92;92;92;92;92;92;92	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	K	92	ENSP00000394423:E92K;ENSP00000323534:E92K;ENSP00000338200:E92K;ENSP00000350534:E92K;ENSP00000346839:E92K;ENSP00000352696:E92K;ENSP00000265312:E92K;ENSP00000273049:E92K;ENSP00000349509:E92K;ENSP00000410422:E92K;ENSP00000415018:E92K;ENSP00000399538:E92K;ENSP00000348285:E92K;ENSP00000398907:E92K	ENSP00000265313:E92K	E	-	1	0	FN1	216007667	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	4.615000	0.61190	2.802000	0.96397	0.655000	0.94253	GAA	FN1	-	smart_Fibronectin_type1	ENSG00000115414		0.378	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		102	0.00	0	C	NM_212476		216299422	216299422	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	missense	61	27.38	23	SNP	1.000	T
FOLH1B	219595	genome.wustl.edu	37	11	89385751	89385751	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:89385751C>G	ENST00000532352.1	+	0	388							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTCTCCTCAAGGAATGCC	0.353																																						dbGAP											0																																										-	-	-			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89385751C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.353	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	72	0.00	0	C	NM_153696		89385751	89385751	+1	no_errors	ENST00000526379	ensembl	human	known	69_37n	rna	36	20.00	9	SNP	0.997	G
FOLH1B	219595	genome.wustl.edu	37	11	89385751	89385751	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:89385751C>G	ENST00000532352.1	+	0	388							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTCTCCTCAAGGAATGCC	0.353																																						dbGAP											0																																										-	-	-			0			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89385751C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-	ENSG00000134612		0.353	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	71	0.00	0	C	NM_153696		89385751	89385751	+1	no_errors	ENST00000526379	ensembl	human	known	69_37n	rna	36	20.00	9	SNP	0.997	G
FOXN2	3344	genome.wustl.edu	37	2	48573479	48573479	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:48573479G>A	ENST00000340553.3	+	3	387	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	42					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGCCAGGCCGAAGGCCACTC	0.463																																						dbGAP											0													116.0	116.0	116.0					2																	48573479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.126G>A	2.37:g.48573479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15769|Q6P4Q2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P42	ENST00000340553.3	37	c.126	CCDS1838.1	2																																																																																			FOXN2	-	NULL	ENSG00000170802		0.463	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN2	HGNC	protein_coding	OTTHUMT00000251240.3	37	0.00	0	G	NM_002158		48573479	48573479	+1	no_errors	ENST00000340553	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.987	A
FOXN2	3344	genome.wustl.edu	37	2	48573479	48573479	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:48573479G>A	ENST00000340553.3	+	3	387	c.126G>A	c.(124-126)ccG>ccA	p.P42P		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	42					transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTGCCAGGCCGAAGGCCACTC	0.463																																						dbGAP											0													116.0	116.0	116.0					2																	48573479		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1838.1	2p22-p16	2008-02-05	2006-10-02	2006-10-02	ENSG00000170802	ENSG00000170802		"""Forkhead boxes"""	5281	protein-coding gene	gene with protein product		143089	"""human T-cell leukemia virus enhancer factor"""	HTLF		1639393	Standard	NM_002158		Approved		uc002rwh.1	P32314	OTTHUMG00000129168	ENST00000340553.3:c.126G>A	2.37:g.48573479G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15769|Q6P4Q2	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.P42	ENST00000340553.3	37	c.126	CCDS1838.1	2																																																																																			FOXN2	-	NULL	ENSG00000170802		0.463	FOXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN2	HGNC	protein_coding	OTTHUMT00000251240.3	29	0.00	0	G	NM_002158		48573479	48573479	+1	no_errors	ENST00000340553	ensembl	human	known	69_37n	silent	18	28.00	7	SNP	0.987	A
FOXRED1	55572	genome.wustl.edu	37	11	126139304	126139304	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:126139304G>A	ENST00000263578.5	+	1	159				SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_Missense_Mutation_p.E13K|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000532259.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCGGCTTGGGGAAGGGGGTTA	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.85+118G>A	11.37:g.126139304G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E13K	ENST00000263578.5	37	c.37	CCDS8471.1	11	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166372	0.38217	.	.	ENSG00000110074	ENST00000532125	T	0.59083	0.29	3.86	-3.18	0.05186	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.13737	-1.0498	8	0.27785	T	0.31	.	1.1354	0.01754	0.3793:0.1461:0.3257:0.1489	.	13	Q96CU9-3	.	K	13	ENSP00000434178:E13K	ENSP00000434178:E13K	E	+	1	0	FOXRED1	125644514	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.570000	0.05895	-0.633000	0.05545	0.491000	0.48974	GAA	FOXRED1	-	NULL	ENSG00000110074		0.577	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	45	0.00	0	G	NM_017547		126139304	126139304	+1	no_errors	ENST00000532125	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.000	A
FOXRED1	55572	genome.wustl.edu	37	11	126139304	126139304	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:126139304G>A	ENST00000263578.5	+	1	159				SRPR_ENST00000332118.6_5'Flank|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000532125.1_Missense_Mutation_p.E13K|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000534011.1_Intron|SRPR_ENST00000532259.1_5'Flank	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TCGGCTTGGGGAAGGGGGTTA	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS8471.1	11q24.2	2006-02-03			ENSG00000110074	ENSG00000110074			26927	protein-coding gene	gene with protein product		613622				10497265	Standard	NM_017547		Approved	H17	uc001qdi.3	Q96CU9	OTTHUMG00000165827	ENST00000263578.5:c.85+118G>A	11.37:g.126139304G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN84|B4DHU2|Q71MG0|Q9BU39|Q9UKY9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase	p.E13K	ENST00000263578.5	37	c.37	CCDS8471.1	11	.	.	.	.	.	.	.	.	.	.	G	13.20	2.166372	0.38217	.	.	ENSG00000110074	ENST00000532125	T	0.59083	0.29	3.86	-3.18	0.05186	.	.	.	.	.	T	0.31734	0.0806	.	.	.	0.09310	N	0.999995	B	0.02656	0.0	B	0.04013	0.001	T	0.13737	-1.0498	8	0.27785	T	0.31	.	1.1354	0.01754	0.3793:0.1461:0.3257:0.1489	.	13	Q96CU9-3	.	K	13	ENSP00000434178:E13K	ENSP00000434178:E13K	E	+	1	0	FOXRED1	125644514	0.000000	0.05858	0.000000	0.03702	0.034000	0.12701	-0.570000	0.05895	-0.633000	0.05545	0.491000	0.48974	GAA	FOXRED1	-	NULL	ENSG00000110074		0.577	FOXRED1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXRED1	HGNC	protein_coding	OTTHUMT00000386434.1	33	0.00	0	G	NM_017547		126139304	126139304	+1	no_errors	ENST00000532125	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	0.000	A
FRMPD4	9758	genome.wustl.edu	37	X	12627931	12627931	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:12627931G>C	ENST00000380682.1	+	3	756	c.250G>C	c.(250-252)Gac>Cac	p.D84H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	84	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GATGAGAAGGGACCCCGTGCT	0.542																																						dbGAP											0													119.0	112.0	115.0					X																	12627931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.250G>C	X.37:g.12627931G>C	ENSP00000370057:p.Asp84His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.D84H	ENST00000380682.1	37	c.250	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840916	0.91197	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08370	3.1	5.35	5.35	0.76521	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.45422	1.42	0.51233	D	0.999913	P;P	0.51240	0.793;0.943	P;P	0.61940	0.729;0.896	T	0.00290	-1.1843	10	0.48119	T	0.1	.	18.2367	0.89951	0.0:0.0:1.0:0.0	.	76;84	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	H	84;75;73	ENSP00000370057:D84H	ENSP00000304583:D73H	D	+	1	0	FRMPD4	12537852	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.216000	0.95154	2.245000	0.73994	0.600000	0.82982	GAC	FRMPD4	-	superfamily_PDZ,pfscan_PDZ	ENSG00000169933		0.542	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	99	0.00	0	G	XM_045712		12627931	12627931	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	C
FRMPD4	9758	genome.wustl.edu	37	X	12627931	12627931	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:12627931G>C	ENST00000380682.1	+	3	756	c.250G>C	c.(250-252)Gac>Cac	p.D84H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	84	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GATGAGAAGGGACCCCGTGCT	0.542																																						dbGAP											0													119.0	112.0	115.0					X																	12627931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.250G>C	X.37:g.12627931G>C	ENSP00000370057:p.Asp84His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0X9|O15032	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.D84H	ENST00000380682.1	37	c.250	CCDS35201.1	X	.	.	.	.	.	.	.	.	.	.	G	27.5	4.840916	0.91197	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	T	0.08370	3.1	5.35	5.35	0.76521	PDZ/DHR/GLGF (2);	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.45422	1.42	0.51233	D	0.999913	P;P	0.51240	0.793;0.943	P;P	0.61940	0.729;0.896	T	0.00290	-1.1843	10	0.48119	T	0.1	.	18.2367	0.89951	0.0:0.0:1.0:0.0	.	76;84	B7ZLE1;Q14CM0	.;FRPD4_HUMAN	H	84;75;73	ENSP00000370057:D84H	ENSP00000304583:D73H	D	+	1	0	FRMPD4	12537852	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.216000	0.95154	2.245000	0.73994	0.600000	0.82982	GAC	FRMPD4	-	superfamily_PDZ,pfscan_PDZ	ENSG00000169933		0.542	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMPD4	HGNC	protein_coding	OTTHUMT00000055771.1	77	0.00	0	G	XM_045712		12627931	12627931	+1	no_errors	ENST00000380682	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	C
FXR2	9513	genome.wustl.edu	37	17	7494804	7494804	+	3'UTR	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:7494804G>T	ENST00000250113.7	-	0	2700				SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAGGCCCCCTGAACGGTCAAA	0.572																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.*344C>A	17.37:g.7494804G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	RNA	SNP	-	NULL	ENST00000250113.7	37	NULL	CCDS45604.1	17																																																																																			FXR2	-	-	ENSG00000129245		0.572	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1	64	0.00	0	G			7494804	7494804	-1	no_errors	ENST00000573057	ensembl	human	putative	69_37n	rna	15	25.00	5	SNP	1.000	T
FXR2	9513	genome.wustl.edu	37	17	7494804	7494804	+	3'UTR	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:7494804G>T	ENST00000250113.7	-	0	2700				SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000250055.2_5'Flank|FXR2_ENST00000573057.1_5'UTR|SOX15_ENST00000538513.2_5'Flank|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2							cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAGGCCCCCTGAACGGTCAAA	0.572																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.*344C>A	17.37:g.7494804G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9M2|D3DTQ1|Q86V09|Q8WUM2	RNA	SNP	-	NULL	ENST00000250113.7	37	NULL	CCDS45604.1	17																																																																																			FXR2	-	-	ENSG00000129245		0.572	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FXR2	HGNC	protein_coding	OTTHUMT00000441084.1	34	0.00	0	G			7494804	7494804	-1	no_errors	ENST00000573057	ensembl	human	putative	69_37n	rna	15	25.00	5	SNP	1.000	T
GALNT8	26290	genome.wustl.edu	37	12	4835986	4835986	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:4835986G>A	ENST00000252318.2	+	2	837	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	167					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCGACACGCGAGACTACAGG	0.577																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													64.0	60.0	61.0					12																	4835986		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.500G>A	12.37:g.4835986G>A	ENSP00000252318:p.Arg167Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R167Q	ENST00000252318.2	37	c.500	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786461	0.49997	.	.	ENSG00000130035	ENST00000252318	T	0.62105	0.05	4.46	2.6	0.31112	.	0.000000	0.50627	D	0.000101	T	0.79673	0.4486	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69363	-0.5165	9	.	.	.	.	7.0823	0.25237	0.211:0.0:0.789:0.0	.	167	Q9NY28	GALT8_HUMAN	Q	167	ENSP00000252318:R167Q	.	R	+	2	0	GALNT8	4706247	0.099000	0.21834	0.001000	0.08648	0.142000	0.21351	2.854000	0.48325	0.481000	0.27557	0.655000	0.94253	CGA	GALNT8	-	NULL	ENSG00000130035		0.577	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	75	0.00	0	G	NM_017417		4835986	4835986	+1	no_errors	ENST00000252318	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	0.053	A
GALNT8	26290	genome.wustl.edu	37	12	4835986	4835986	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:4835986G>A	ENST00000252318.2	+	2	837	c.500G>A	c.(499-501)cGa>cAa	p.R167Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	167					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCGACACGCGAGACTACAGG	0.577																																					Colon(108;631 1558 7270 20097 39846)	dbGAP											0													64.0	60.0	61.0					12																	4835986		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.500G>A	12.37:g.4835986G>A	ENSP00000252318:p.Arg167Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R167Q	ENST00000252318.2	37	c.500	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786461	0.49997	.	.	ENSG00000130035	ENST00000252318	T	0.62105	0.05	4.46	2.6	0.31112	.	0.000000	0.50627	D	0.000101	T	0.79673	0.4486	M	0.91300	3.195	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69363	-0.5165	9	.	.	.	.	7.0823	0.25237	0.211:0.0:0.789:0.0	.	167	Q9NY28	GALT8_HUMAN	Q	167	ENSP00000252318:R167Q	.	R	+	2	0	GALNT8	4706247	0.099000	0.21834	0.001000	0.08648	0.142000	0.21351	2.854000	0.48325	0.481000	0.27557	0.655000	0.94253	CGA	GALNT8	-	NULL	ENSG00000130035		0.577	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	45	0.00	0	G	NM_017417		4835986	4835986	+1	no_errors	ENST00000252318	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	0.053	A
GNAT2	2780	genome.wustl.edu	37	1	110155435	110155435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:110155435C>A	ENST00000351050.3	-	1	244	c.58G>T	c.(58-60)Gaa>Taa	p.E20*		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	20					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCTTCTTTTCTAGCTCCTTG	0.527																																						dbGAP											0													218.0	193.0	202.0					1																	110155435		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.58G>T	1.37:g.110155435C>A	ENSP00000251337:p.Glu20*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E20*	ENST00000351050.3	37	c.58	CCDS803.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.266007	0.98175	.	.	ENSG00000134183	ENST00000351050	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6968	0.91604	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000251337:E20X	E	-	1	0	GNAT2	109956958	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.831000	0.69330	2.737000	0.93849	0.655000	0.94253	GAA	GNAT2	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000134183		0.527	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	108	0.00	0	C	NM_005272		110155435	110155435	-1	no_errors	ENST00000351050	ensembl	human	known	69_37n	nonsense	99	18.85	23	SNP	1.000	A
GNAT2	2780	genome.wustl.edu	37	1	110155435	110155435	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:110155435C>A	ENST00000351050.3	-	1	244	c.58G>T	c.(58-60)Gaa>Taa	p.E20*		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	20					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCTTCTTTTCTAGCTCCTTG	0.527																																						dbGAP											0													218.0	193.0	202.0					1																	110155435		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.58G>T	1.37:g.110155435C>A	ENSP00000251337:p.Glu20*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.E20*	ENST00000351050.3	37	c.58	CCDS803.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.266007	0.98175	.	.	ENSG00000134183	ENST00000351050	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.6968	0.91604	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000251337:E20X	E	-	1	0	GNAT2	109956958	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.831000	0.69330	2.737000	0.93849	0.655000	0.94253	GAA	GNAT2	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000134183		0.527	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT2	HGNC	protein_coding	OTTHUMT00000032181.1	123	0.00	0	C	NM_005272		110155435	110155435	-1	no_errors	ENST00000351050	ensembl	human	known	69_37n	nonsense	99	18.85	23	SNP	1.000	A
GNB2L1	10399	genome.wustl.edu	37	5	180664279	180664279	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:180664279C>G	ENST00000512805.1	-	8	1297				GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000514455.1_Intron|GNB2L1_ENST00000511900.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGAAACCGCTCTCATTTCAAC	0.488																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.889-237G>C	5.37:g.180664279C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E216D	ENST00000512805.1	37	c.648	CCDS34324.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.861|4.861	0.159957|0.159957	0.09287|0.09287	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000504128|ENST00000507756	.|.	.|.	.|.	2.7|2.7	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.17238|0.17238	0.0414|0.0414	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24440|0.24440	-1.0160|-1.0160	4|4	.|.	.|.	.|.	.|.	0.5451|0.5451	0.00652|0.00652	0.1795:0.2623:0.1772:0.381|0.1795:0.2623:0.1772:0.381	.|.	.|.	.|.	.|.	D|Q	216|241	.|.	.|.	E|E	-|-	3|1	2|0	GNB2L1|GNB2L1	180596885|180596885	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.156000|-0.156000	0.10100|0.10100	-0.761000|-0.761000	0.04670|0.04670	-1.156000|-1.156000	0.01807|0.01807	GAG|GAG	GNB2L1	-	NULL	ENSG00000204628		0.488	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	60	0.00	0	C	NM_006098		180664279	180664279	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000504128	ensembl	human	putative	69_37n	missense	38	17.39	8	SNP	0.000	G
GNB2L1	10399	genome.wustl.edu	37	5	180664279	180664279	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:180664279C>G	ENST00000512805.1	-	8	1297				GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000514455.1_Intron|GNB2L1_ENST00000511900.1_Intron	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cell cycle (GO:0007049)|gastrulation (GO:0007369)|negative regulation of cell growth (GO:0030308)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of phagocytosis (GO:0050765)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of translation (GO:0017148)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of cell migration (GO:0030335)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|positive regulation of gastrulation (GO:2000543)|positive regulation of GTPase activity (GO:0043547)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein phosphorylation (GO:0001934)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein localization (GO:0032880)|rhythmic process (GO:0048511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|phagocytic cup (GO:0001891)|small ribosomal subunit (GO:0015935)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|ion channel inhibitor activity (GO:0008200)|poly(A) RNA binding (GO:0044822)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase inhibitor activity (GO:0030292)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AGAAACCGCTCTCATTTCAAC	0.488																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M24194	CCDS34324.1	5q35.3	2013-01-10				ENSG00000204628		"""WD repeat domain containing"""	4399	protein-coding gene	gene with protein product	"""Receptor for Activated C Kinase 1"""	176981				8302854, 2499885	Standard	NM_006098		Approved	Gnb2-rs1, RACK1, H12.3	uc003mni.1	P63244		ENST00000512805.1:c.889-237G>C	5.37:g.180664279C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTJ0|D3DWS0|P25388|P99049|Q53HU2|Q5J8M6|Q5VLR4|Q6FH47	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E216D	ENST00000512805.1	37	c.648	CCDS34324.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.861|4.861	0.159957|0.159957	0.09287|0.09287	.|.	.|.	ENSG00000204628|ENSG00000204628	ENST00000504128|ENST00000507756	.|.	.|.	.|.	2.7|2.7	-3.51|-3.51	0.04696|0.04696	.|.	.|.	.|.	.|.	.|.	T|T	0.17238|0.17238	0.0414|0.0414	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999998|0.999998	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24440|0.24440	-1.0160|-1.0160	4|4	.|.	.|.	.|.	.|.	0.5451|0.5451	0.00652|0.00652	0.1795:0.2623:0.1772:0.381|0.1795:0.2623:0.1772:0.381	.|.	.|.	.|.	.|.	D|Q	216|241	.|.	.|.	E|E	-|-	3|1	2|0	GNB2L1|GNB2L1	180596885|180596885	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.156000|-0.156000	0.10100|0.10100	-0.761000|-0.761000	0.04670|0.04670	-1.156000|-1.156000	0.01807|0.01807	GAG|GAG	GNB2L1	-	NULL	ENSG00000204628		0.488	GNB2L1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	GNB2L1	HGNC	protein_coding	OTTHUMT00000372943.2	58	0.00	0	C	NM_006098		180664279	180664279	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000504128	ensembl	human	putative	69_37n	missense	38	17.39	8	SNP	0.000	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685523	23685523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:23685523C>G	ENST00000567107.1	-	8	2151	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						CCGGCAGCCTCTGCTGCTCCC	0.557																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2099G>C	15.37:g.23685523C>G	ENSP00000454407:p.Arg700Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.R700T	ENST00000567107.1	37	c.2099		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.557	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	190	0.00	0	C	NM_182561		23685523	23685523	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	122	17.01	25	SNP	0.024	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685523	23685523	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:23685523C>G	ENST00000567107.1	-	8	2151	c.2099G>C	c.(2098-2100)aGa>aCa	p.R700T	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						CCGGCAGCCTCTGCTGCTCCC	0.557																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2099G>C	15.37:g.23685523C>G	ENSP00000454407:p.Arg700Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Missense_Mutation	SNP	NULL	p.R700T	ENST00000567107.1	37	c.2099		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.557	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	161	0.00	0	C	NM_182561		23685523	23685523	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	122	17.01	25	SNP	0.024	G
GON4L	54856	genome.wustl.edu	37	1	155774755	155774755	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:155774755C>T	ENST00000368331.1	-	11	1678	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	GON4L_ENST00000437809.1_Missense_Mutation_p.D544N|GON4L_ENST00000271883.5_Missense_Mutation_p.D544N|GON4L_ENST00000361040.5_Missense_Mutation_p.D544N|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	544	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCCCACATCATCATTCATA	0.408																																						dbGAP											0													145.0	140.0	142.0					1																	155774755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1630G>A	1.37:g.155774755C>T	ENSP00000357315:p.Asp544Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.D544N	ENST00000368331.1	37	c.1630		1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997903	0.74818	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.14516	2.67;2.67;2.67;2.5	4.93	4.93	0.64822	.	0.118512	0.56097	D	0.000034	T	0.23094	0.0558	L	0.51422	1.61	0.38861	D	0.956488	D;D;D;D;D;D	0.71674	0.995;0.996;0.998;0.997;0.997;0.998	D;D;D;D;D;D	0.70935	0.934;0.955;0.961;0.922;0.936;0.971	T	0.00641	-1.1631	10	0.42905	T	0.14	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	324;238;544;544;544;544	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	N	544;544;544;544;544;23	ENSP00000396117:D544N;ENSP00000357315:D544N;ENSP00000271883:D544N;ENSP00000354322:D544N	ENSP00000271883:D544N	D	-	1	0	GON4L	154041379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.168000	0.64978	2.567000	0.86603	0.467000	0.42956	GAT	GON4L	-	NULL	ENSG00000116580		0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		49	0.00	0	C	NM_032292		155774755	155774755	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155774755	155774755	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:155774755C>T	ENST00000368331.1	-	11	1678	c.1630G>A	c.(1630-1632)Gat>Aat	p.D544N	GON4L_ENST00000437809.1_Missense_Mutation_p.D544N|GON4L_ENST00000271883.5_Missense_Mutation_p.D544N|GON4L_ENST00000361040.5_Missense_Mutation_p.D544N|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	544	Asp-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCCCACATCATCATTCATA	0.408																																						dbGAP											0													145.0	140.0	142.0					1																	155774755		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1630G>A	1.37:g.155774755C>T	ENSP00000357315:p.Asp544Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.D544N	ENST00000368331.1	37	c.1630		1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997903	0.74818	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.14516	2.67;2.67;2.67;2.5	4.93	4.93	0.64822	.	0.118512	0.56097	D	0.000034	T	0.23094	0.0558	L	0.51422	1.61	0.38861	D	0.956488	D;D;D;D;D;D	0.71674	0.995;0.996;0.998;0.997;0.997;0.998	D;D;D;D;D;D	0.70935	0.934;0.955;0.961;0.922;0.936;0.971	T	0.00641	-1.1631	10	0.42905	T	0.14	.	17.9264	0.88985	0.0:1.0:0.0:0.0	.	324;238;544;544;544;544	Q6PHZ4;Q9H5U2;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;.;GON4L_HUMAN;.	N	544;544;544;544;544;23	ENSP00000396117:D544N;ENSP00000357315:D544N;ENSP00000271883:D544N;ENSP00000354322:D544N	ENSP00000271883:D544N	D	-	1	0	GON4L	154041379	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.168000	0.64978	2.567000	0.86603	0.467000	0.42956	GAT	GON4L	-	NULL	ENSG00000116580		0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		69	0.00	0	C	NM_032292		155774755	155774755	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	1.000	T
GPR64	10149	genome.wustl.edu	37	X	19039286	19039286	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:19039286C>T	ENST00000379869.3	-	14	742	c.579G>A	c.(577-579)ctG>ctA	p.L193L	GPR64_ENST00000379878.3_Silent_p.L177L|GPR64_ENST00000357991.3_Silent_p.L190L|GPR64_ENST00000357544.3_Silent_p.L163L|GPR64_ENST00000340581.3_Silent_p.L163L|GPR64_ENST00000354791.3_Silent_p.L177L|GPR64_ENST00000356606.4_Silent_p.L179L|GPR64_ENST00000379876.1_Silent_p.L169L|GPR64_ENST00000379873.2_Silent_p.L193L|GPR64_ENST00000360279.4_Silent_p.L171L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	193					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGTATTATTCAGTTTTATTG	0.313																																						dbGAP											0													140.0	113.0	122.0					X																	19039286		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.579G>A	X.37:g.19039286C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L193	ENST00000379869.3	37	c.579	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980937	0.18812	.	.	ENSG00000173698	ENST00000397917	.	.	.	5.34	4.47	0.54385	.	.	.	.	.	T	0.71434	0.3339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74044	-0.3791	5	0.87932	D	0	.	10.8898	0.46990	0.0:0.8167:0.1833:0.0	.	.	.	.	K	117	.	ENSP00000381013:E117K	E	-	1	0	GPR64	18949207	1.000000	0.71417	0.890000	0.34922	0.962000	0.63368	1.936000	0.40183	1.210000	0.43336	0.594000	0.82650	GAA	GPR64	-	NULL	ENSG00000173698		0.313	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	46	0.00	0	C			19039286	19039286	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.965	T
GPR64	10149	genome.wustl.edu	37	X	19039286	19039286	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:19039286C>T	ENST00000379869.3	-	14	742	c.579G>A	c.(577-579)ctG>ctA	p.L193L	GPR64_ENST00000379878.3_Silent_p.L177L|GPR64_ENST00000357991.3_Silent_p.L190L|GPR64_ENST00000357544.3_Silent_p.L163L|GPR64_ENST00000340581.3_Silent_p.L163L|GPR64_ENST00000354791.3_Silent_p.L177L|GPR64_ENST00000356606.4_Silent_p.L179L|GPR64_ENST00000379876.1_Silent_p.L169L|GPR64_ENST00000379873.2_Silent_p.L193L|GPR64_ENST00000360279.4_Silent_p.L171L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	193					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TTGTATTATTCAGTTTTATTG	0.313																																						dbGAP											0													140.0	113.0	122.0					X																	19039286		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.579G>A	X.37:g.19039286C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.L193	ENST00000379869.3	37	c.579	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	9.004	0.980937	0.18812	.	.	ENSG00000173698	ENST00000397917	.	.	.	5.34	4.47	0.54385	.	.	.	.	.	T	0.71434	0.3339	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74044	-0.3791	5	0.87932	D	0	.	10.8898	0.46990	0.0:0.8167:0.1833:0.0	.	.	.	.	K	117	.	ENSP00000381013:E117K	E	-	1	0	GPR64	18949207	1.000000	0.71417	0.890000	0.34922	0.962000	0.63368	1.936000	0.40183	1.210000	0.43336	0.594000	0.82650	GAA	GPR64	-	NULL	ENSG00000173698		0.313	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	37	0.00	0	C			19039286	19039286	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	silent	34	17.07	7	SNP	0.965	T
GPR98	84059	genome.wustl.edu	37	5	90073826	90073826	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:90073826G>A	ENST00000405460.2	+	62	12728	c.12632G>A	c.(12631-12633)cGa>cAa	p.R4211Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4211	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGACAATGCGAGACGAACAG	0.473																																						dbGAP											0													55.0	59.0	58.0					5																	90073826		1942	4134	6076	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12632G>A	5.37:g.90073826G>A	ENSP00000384582:p.Arg4211Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4211Q	ENST00000405460.2	37	c.12632	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950795	0.34471	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26660	1.72	5.51	0.645	0.17782	.	0.402805	0.28307	N	0.015837	T	0.15696	0.0378	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.08055	0.003	T	0.12785	-1.0534	10	0.15499	T	0.54	.	6.4919	0.22119	0.3112:0.0:0.5766:0.1123	.	4211	Q8WXG9	GPR98_HUMAN	Q	4211	ENSP00000384582:R4211Q	ENSP00000296619:R4211Q	R	+	2	0	GPR98	90109582	0.071000	0.21146	0.821000	0.32701	0.885000	0.51271	0.240000	0.18042	0.039000	0.15632	0.643000	0.83706	CGA	GPR98	-	NULL	ENSG00000164199		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	47	0.00	0	G	NM_032119		90073826	90073826	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.998	A
GPR98	84059	genome.wustl.edu	37	5	90073826	90073826	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:90073826G>A	ENST00000405460.2	+	62	12728	c.12632G>A	c.(12631-12633)cGa>cAa	p.R4211Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4211	Calx-beta 28. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTGACAATGCGAGACGAACAG	0.473																																						dbGAP											0													55.0	59.0	58.0					5																	90073826		1942	4134	6076	-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.12632G>A	5.37:g.90073826G>A	ENSP00000384582:p.Arg4211Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.R4211Q	ENST00000405460.2	37	c.12632	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	12.48	1.950795	0.34471	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.26660	1.72	5.51	0.645	0.17782	.	0.402805	0.28307	N	0.015837	T	0.15696	0.0378	L	0.42245	1.32	0.80722	D	1	B	0.23735	0.09	B	0.08055	0.003	T	0.12785	-1.0534	10	0.15499	T	0.54	.	6.4919	0.22119	0.3112:0.0:0.5766:0.1123	.	4211	Q8WXG9	GPR98_HUMAN	Q	4211	ENSP00000384582:R4211Q	ENSP00000296619:R4211Q	R	+	2	0	GPR98	90109582	0.071000	0.21146	0.821000	0.32701	0.885000	0.51271	0.240000	0.18042	0.039000	0.15632	0.643000	0.83706	CGA	GPR98	-	NULL	ENSG00000164199		0.473	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	40	0.00	0	G	NM_032119		90073826	90073826	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.998	A
GPSM1	26086	genome.wustl.edu	37	9	139244164	139244164	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:139244164C>T	ENST00000440944.1	+	11	1624	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	468	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCGGGAGGGCAGCCACTCCC	0.711																																						dbGAP											0													8.0	11.0	10.0					9																	139244164		2125	4191	6316	-	-	-	SO:0001819	synonymous_variant	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1404C>T	9.37:g.139244164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G468	ENST00000440944.1	37	c.1404	CCDS48055.1	9																																																																																			GPSM1	-	NULL	ENSG00000160360		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		20	0.00	0	C	NM_015597		139244164	139244164	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.156	T
GPSM1	26086	genome.wustl.edu	37	9	139244164	139244164	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:139244164C>T	ENST00000440944.1	+	11	1624	c.1404C>T	c.(1402-1404)ggC>ggT	p.G468G		NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	468	Interaction with STK11/LKB1. {ECO:0000250}.|Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCGGGAGGGCAGCCACTCCC	0.711																																						dbGAP											0													8.0	11.0	10.0					9																	139244164		2125	4191	6316	-	-	-	SO:0001819	synonymous_variant	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.1404C>T	9.37:g.139244164C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Silent	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G468	ENST00000440944.1	37	c.1404	CCDS48055.1	9																																																																																			GPSM1	-	NULL	ENSG00000160360		0.711	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		20	0.00	0	C	NM_015597		139244164	139244164	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.156	T
GRID2IP	392862	genome.wustl.edu	37	7	6565861	6565861	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:6565861G>A	ENST00000457091.2	-	4	912	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	GRID2IP_ENST00000435185.1_Silent_p.L122L|GRID2IP_ENST00000452113.1_Silent_p.L115L	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	305	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						TCACCAGGCAGGACAGACTCG	0.622																																						dbGAP											0													50.0	52.0	52.0					7																	6565861		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.913C>T	7.37:g.6565861G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ	p.L305	ENST00000457091.2	37	c.913	CCDS47537.1	7																																																																																			GRID2IP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000215045		0.622	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	54	0.00	0	G	XM_294249		6565861	6565861	-1	no_errors	ENST00000457091	ensembl	human	putative	69_37n	silent	20	25.93	7	SNP	0.990	A
GRID2IP	392862	genome.wustl.edu	37	7	6565861	6565861	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:6565861G>A	ENST00000457091.2	-	4	912	c.913C>T	c.(913-915)Ctg>Ttg	p.L305L	GRID2IP_ENST00000435185.1_Silent_p.L122L|GRID2IP_ENST00000452113.1_Silent_p.L115L	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	305	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						TCACCAGGCAGGACAGACTCG	0.622																																						dbGAP											0													50.0	52.0	52.0					7																	6565861		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.913C>T	7.37:g.6565861G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_FH2_actin-bd,pfam_PDZ,superfamily_FH2_actin-bd,superfamily_PDZ,smart_PDZ,smart_Actin-bd_FH2/DRF_autoreg,pfscan_PDZ	p.L305	ENST00000457091.2	37	c.913	CCDS47537.1	7																																																																																			GRID2IP	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000215045		0.622	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	HGNC	protein_coding	OTTHUMT00000340534.1	40	0.00	0	G	XM_294249		6565861	6565861	-1	no_errors	ENST00000457091	ensembl	human	putative	69_37n	silent	20	25.93	7	SNP	0.990	A
GRK7	131890	genome.wustl.edu	37	3	141497504	141497504	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:141497504C>T	ENST00000264952.2	+	1	515	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	126	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AACCCTTCCTCAGCCAGGCCG	0.672																																						dbGAP											0													26.0	28.0	27.0					3																	141497504		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.378C>T	3.37:g.141497504C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.L126	ENST00000264952.2	37	c.378	CCDS3120.1	3																																																																																			GRK7	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000114124		0.672	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	76	0.00	0	C	NM_139209		141497504	141497504	+1	no_errors	ENST00000264952	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	0.998	T
GRK7	131890	genome.wustl.edu	37	3	141497504	141497504	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:141497504C>T	ENST00000264952.2	+	1	515	c.378C>T	c.(376-378)ctC>ctT	p.L126L		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	126	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AACCCTTCCTCAGCCAGGCCG	0.672																																						dbGAP											0													26.0	28.0	27.0					3																	141497504		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.378C>T	3.37:g.141497504C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_GPCR_kinase,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom	p.L126	ENST00000264952.2	37	c.378	CCDS3120.1	3																																																																																			GRK7	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	ENSG00000114124		0.672	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK7	HGNC	protein_coding	OTTHUMT00000353168.1	55	0.00	0	C	NM_139209		141497504	141497504	+1	no_errors	ENST00000264952	ensembl	human	known	69_37n	silent	43	23.21	13	SNP	0.998	T
GRM5	2915	genome.wustl.edu	37	11	88240897	88240897	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:88240897G>A	ENST00000418177.2	-	0	4869				GRM5_ENST00000455756.2_3'UTR|GRM5-AS1_ENST00000526448.1_RNA			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5						activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TTTATAAAGAGAATTTCCAGC	0.378																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000418177.2:c.*863C>T	11.37:g.88240897G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6J164	RNA	SNP	-	NULL	ENST00000418177.2	37	NULL	CCDS44694.1	11																																																																																			GRM5-AS1	-	-	ENSG00000255082		0.378	GRM5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5-AS1	HGNC	protein_coding		19	0.00	0	G	NM_000842		88240897	88240897	+1	no_errors	ENST00000526448	ensembl	human	known	69_37n	rna	12	20.00	3	SNP	1.000	A
GRN	2896	genome.wustl.edu	37	17	42427110	42427110	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:42427110C>G	ENST00000053867.3	+	4	402	c.340C>G	c.(340-342)Caa>Gaa	p.Q114E	GRN_ENST00000589265.1_Missense_Mutation_p.Q114E	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	114					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATCCTGCTTCCAAAGATCAGG	0.647																																						dbGAP											0													36.0	30.0	32.0					17																	42427110		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.340C>G	17.37:g.42427110C>G	ENSP00000053867:p.Gln114Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.Q114E	ENST00000053867.3	37	c.340	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	c	11.87	1.768065	0.31320	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72282	-0.64	4.11	3.06	0.35304	Granulin (1);	1.699310	0.03659	N	0.242226	T	0.70307	0.3209	M	0.78637	2.42	0.09310	N	1	P	0.37122	0.583	B	0.37731	0.257	T	0.59231	-0.7493	10	0.02654	T	1	-1.5416	10.7342	0.46115	0.2023:0.7977:0.0:0.0	.	114	P28799	GRN_HUMAN	E	114	ENSP00000053867:Q114E	ENSP00000053867:Q114E	Q	+	1	0	GRN	39782636	0.328000	0.24687	0.698000	0.30274	0.223000	0.24884	1.164000	0.31810	2.122000	0.65172	0.450000	0.29827	CAA	GRN	-	pfam_Granulin	ENSG00000030582		0.647	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	92	0.00	0	C	NM_002087		42427110	42427110	+1	no_errors	ENST00000053867	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.285	G
GRN	2896	genome.wustl.edu	37	17	42427110	42427110	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:42427110C>G	ENST00000053867.3	+	4	402	c.340C>G	c.(340-342)Caa>Gaa	p.Q114E	GRN_ENST00000589265.1_Missense_Mutation_p.Q114E	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	114					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		ATCCTGCTTCCAAAGATCAGG	0.647																																						dbGAP											0													36.0	30.0	32.0					17																	42427110		2203	4300	6503	-	-	-	SO:0001583	missense	0			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.340C>G	17.37:g.42427110C>G	ENSP00000053867:p.Gln114Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.Q114E	ENST00000053867.3	37	c.340	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	c	11.87	1.768065	0.31320	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72282	-0.64	4.11	3.06	0.35304	Granulin (1);	1.699310	0.03659	N	0.242226	T	0.70307	0.3209	M	0.78637	2.42	0.09310	N	1	P	0.37122	0.583	B	0.37731	0.257	T	0.59231	-0.7493	10	0.02654	T	1	-1.5416	10.7342	0.46115	0.2023:0.7977:0.0:0.0	.	114	P28799	GRN_HUMAN	E	114	ENSP00000053867:Q114E	ENSP00000053867:Q114E	Q	+	1	0	GRN	39782636	0.328000	0.24687	0.698000	0.30274	0.223000	0.24884	1.164000	0.31810	2.122000	0.65172	0.450000	0.29827	CAA	GRN	-	pfam_Granulin	ENSG00000030582		0.647	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	62	0.00	0	C	NM_002087		42427110	42427110	+1	no_errors	ENST00000053867	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.285	G
GTF2IRD2B	389524	genome.wustl.edu	37	7	74524806	74524806	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:74524806C>T	ENST00000312575.7	+	2	225	c.50C>T	c.(49-51)tCa>tTa	p.S17L	GTF2IRD2B_ENST00000430511.2_Missense_Mutation_p.S17L|GTF2IRD2B_ENST00000356115.5_Missense_Mutation_p.S17L	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						GAGTCCTCCTCAGAGACCAGG	0.498																																						dbGAP											0													3.0	5.0	5.0					7																	74524806		1357	3695	5052	-	-	-	SO:0001583	missense	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.50C>T	7.37:g.74524806C>T	ENSP00000308080:p.Ser17Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.S17L	ENST00000312575.7	37	c.50	CCDS34659.1	7	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876542	0.51801	.	.	ENSG00000174428	ENST00000356115;ENST00000430511;ENST00000312575	T;T;T	0.51817	0.69;0.72;2.69	2.96	2.96	0.34315	.	.	.	.	.	T	0.46405	0.1391	M	0.71581	2.175	0.44241	D	0.997084	B;B	0.31949	0.348;0.029	B;B	0.31614	0.133;0.035	T	0.56372	-0.7990	9	0.87932	D	0	-19.5155	11.0911	0.48117	0.0:1.0:0.0:0.0	.	17;17	Q86UP8-2;Q6EKJ0	.;GTD2B_HUMAN	L	17	ENSP00000348427:S17L;ENSP00000413588:S17L;ENSP00000308080:S17L	ENSP00000308080:S17L	S	+	2	0	GTF2IRD2B	74162742	0.044000	0.20184	0.486000	0.27416	0.041000	0.13682	1.849000	0.39318	1.682000	0.51000	0.449000	0.29647	TCA	GTF2IRD2B	-	NULL	ENSG00000174428		0.498	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	61	0.00	0	C	NM_001003795		74524806	74524806	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.260	T
GTF2IRD2B	389524	genome.wustl.edu	37	7	74524806	74524806	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:74524806C>T	ENST00000312575.7	+	2	225	c.50C>T	c.(49-51)tCa>tTa	p.S17L	GTF2IRD2B_ENST00000430511.2_Missense_Mutation_p.S17L|GTF2IRD2B_ENST00000356115.5_Missense_Mutation_p.S17L	NM_001003795.2	NP_001003795.1	Q6EKJ0	GTD2B_HUMAN	GTF2I repeat domain containing 2B	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|ovary(2)|prostate(1)	4						GAGTCCTCCTCAGAGACCAGG	0.498																																						dbGAP											0													3.0	5.0	5.0					7																	74524806		1357	3695	5052	-	-	-	SO:0001583	missense	0			AY312850	CCDS34659.1	7q11.23	2014-05-06			ENSG00000174428	ENSG00000174428			33125	protein-coding gene	gene with protein product		608900				15100712	Standard	XM_005277580		Approved		uc003ubt.3	Q6EKJ0	OTTHUMG00000181534	ENST00000312575.7:c.50C>T	7.37:g.74524806C>T	ENSP00000308080:p.Ser17Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNE9|Q69GU6|Q8N979|Q9H739	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I	p.S17L	ENST00000312575.7	37	c.50	CCDS34659.1	7	.	.	.	.	.	.	.	.	.	.	C	15.58	2.876542	0.51801	.	.	ENSG00000174428	ENST00000356115;ENST00000430511;ENST00000312575	T;T;T	0.51817	0.69;0.72;2.69	2.96	2.96	0.34315	.	.	.	.	.	T	0.46405	0.1391	M	0.71581	2.175	0.44241	D	0.997084	B;B	0.31949	0.348;0.029	B;B	0.31614	0.133;0.035	T	0.56372	-0.7990	9	0.87932	D	0	-19.5155	11.0911	0.48117	0.0:1.0:0.0:0.0	.	17;17	Q86UP8-2;Q6EKJ0	.;GTD2B_HUMAN	L	17	ENSP00000348427:S17L;ENSP00000413588:S17L;ENSP00000308080:S17L	ENSP00000308080:S17L	S	+	2	0	GTF2IRD2B	74162742	0.044000	0.20184	0.486000	0.27416	0.041000	0.13682	1.849000	0.39318	1.682000	0.51000	0.449000	0.29647	TCA	GTF2IRD2B	-	NULL	ENSG00000174428		0.498	GTF2IRD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2IRD2B	HGNC	protein_coding	OTTHUMT00000342728.1	39	0.00	0	C	NM_001003795		74524806	74524806	+1	no_errors	ENST00000312575	ensembl	human	known	69_37n	missense	49	18.33	11	SNP	0.260	T
MTG2	26164	genome.wustl.edu	37	20	60771001	60771001	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:60771001G>A	ENST00000370823.3	+	3	366	c.348G>A	c.(346-348)ctG>ctA	p.L116L	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Silent_p.L116L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	116	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										ACGTCATTCTGAGAGGCAGGT	0.617																																						dbGAP											0													48.0	41.0	44.0					20																	60771001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.348G>A	20.37:g.60771001G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.L116	ENST00000370823.3	37	c.348	CCDS13492.1	20																																																																																			GTPBP5	-	pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA	ENSG00000101181		0.617	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	70	0.00	0	G	NM_015666		60771001	60771001	+1	no_errors	ENST00000370823	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	1.000	A
MTG2	26164	genome.wustl.edu	37	20	60771001	60771001	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:60771001G>A	ENST00000370823.3	+	3	366	c.348G>A	c.(346-348)ctG>ctA	p.L116L	MTG2_ENST00000536470.1_5'UTR|MTG2_ENST00000436421.2_Silent_p.L116L	NM_015666.3	NP_056481.1	Q9H4K7	MTG2_HUMAN	mitochondrial ribosome-associated GTPase 2	116	Localized in the mitochondria.|Not localized in the mitochondria.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)										ACGTCATTCTGAGAGGCAGGT	0.617																																						dbGAP											0													48.0	41.0	44.0					20																	60771001		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001603	CCDS13492.1	20q13.33	2013-05-24	2013-05-24	2013-05-24	ENSG00000101181	ENSG00000101181			16239	protein-coding gene	gene with protein product		610919	"""GTP-binding protein 5 (putative)"", ""GTP binding protein 5 (putative)"""	GTPBP5		17054726, 23396448	Standard	NM_015666		Approved	FLJ10741, dJ1005F21.2, ObgH1		Q9H4K7	OTTHUMG00000032897	ENST00000370823.3:c.348G>A	20.37:g.60771001G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDR3|B4DR85|Q96I17|Q9NVG9|Q9UFR4	Silent	SNP	pfam_GTP1_OBG_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_Small_GTPase_ARF/SAR,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain,tigrfam_GTP-bd_Obg/CgtA,tigrfam_Small_GTP-bd_dom	p.L116	ENST00000370823.3	37	c.348	CCDS13492.1	20																																																																																			GTPBP5	-	pfam_GTP1_OBG_dom,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,tigrfam_GTP-bd_Obg/CgtA	ENSG00000101181		0.617	MTG2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP5	HGNC	protein_coding	OTTHUMT00000079989.1	54	0.00	0	G	NM_015666		60771001	60771001	+1	no_errors	ENST00000370823	ensembl	human	known	69_37n	silent	41	25.45	14	SNP	1.000	A
GTPBP8	29083	genome.wustl.edu	37	3	112710180	112710180	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:112710180G>A	ENST00000383678.2	+	1	416	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.E112K	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	112	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						TCCGCGGCCAGAGGTGAGAGG	0.642																																						dbGAP											0													24.0	24.0	24.0					3																	112710180		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.334G>A	3.37:g.112710180G>A	ENSP00000373176:p.Glu112Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E112K	ENST00000383678.2	37	c.334	CCDS33820.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584988	0.86748	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.50277	2.73;0.75	5.79	5.79	0.91817	.	0.109289	0.64402	D	0.000007	T	0.70613	0.3244	M	0.91510	3.215	0.80722	D	1	P;P	0.51351	0.944;0.931	P;P	0.53006	0.548;0.715	T	0.77778	-0.2460	10	0.87932	D	0	-0.4681	18.7996	0.92010	0.0:0.0:1.0:0.0	.	112;112	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	K	112	ENSP00000373176:E112K;ENSP00000373175:E112K	ENSP00000295864:E112K	E	+	1	0	GTPBP8	114192870	1.000000	0.71417	0.966000	0.40874	0.084000	0.17831	8.713000	0.91408	2.727000	0.93392	0.655000	0.94253	GAG	GTPBP8	-	pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	ENSG00000163607		0.642	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	53	0.00	0	G	NM_014170		112710180	112710180	+1	no_errors	ENST00000383678	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	A
GTPBP8	29083	genome.wustl.edu	37	3	112710180	112710180	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:112710180G>A	ENST00000383678.2	+	1	416	c.334G>A	c.(334-336)Gag>Aag	p.E112K	RP11-484K9.4_ENST00000609673.1_RNA|GTPBP8_ENST00000467752.1_5'Flank|GTPBP8_ENST00000473129.1_5'Flank|GTPBP8_ENST00000383677.3_Missense_Mutation_p.E112K	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	112	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						TCCGCGGCCAGAGGTGAGAGG	0.642																																						dbGAP											0													24.0	24.0	24.0					3																	112710180		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.334G>A	3.37:g.112710180G>A	ENSP00000373176:p.Glu112Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_ProtSyn_GTP-bd,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	p.E112K	ENST00000383678.2	37	c.334	CCDS33820.1	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584988	0.86748	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485	T;T	0.50277	2.73;0.75	5.79	5.79	0.91817	.	0.109289	0.64402	D	0.000007	T	0.70613	0.3244	M	0.91510	3.215	0.80722	D	1	P;P	0.51351	0.944;0.931	P;P	0.53006	0.548;0.715	T	0.77778	-0.2460	10	0.87932	D	0	-0.4681	18.7996	0.92010	0.0:0.0:1.0:0.0	.	112;112	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	K	112	ENSP00000373176:E112K;ENSP00000373175:E112K	ENSP00000295864:E112K	E	+	1	0	GTPBP8	114192870	1.000000	0.71417	0.966000	0.40874	0.084000	0.17831	8.713000	0.91408	2.727000	0.93392	0.655000	0.94253	GAG	GTPBP8	-	pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC	ENSG00000163607		0.642	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP8	HGNC	protein_coding	OTTHUMT00000354260.2	54	0.00	0	G	NM_014170		112710180	112710180	+1	no_errors	ENST00000383678	ensembl	human	known	69_37n	missense	22	21.43	6	SNP	1.000	A
H2AFY2	55506	genome.wustl.edu	37	10	71860020	71860020	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:71860020C>T	ENST00000373255.4	+	7	1009	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	249	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AAAGGAGCTTCGCAAATCCCA	0.527																																						dbGAP											0													59.0	53.0	55.0					10																	71860020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.745C>T	10.37:g.71860020C>T	ENSP00000362352:p.Arg249Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQT2	Missense_Mutation	SNP	pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A	p.R249C	ENST00000373255.4	37	c.745	CCDS7296.1	10	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489817	0.84962	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.23552	1.9;1.9	5.71	5.71	0.89125	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	P	0.58172	0.834	T	0.17992	-1.0351	10	0.72032	D	0.01	.	19.465	0.94934	0.0:1.0:0.0:0.0	.	249	Q9P0M6	H2AW_HUMAN	C	249;183;183	ENSP00000362352:R249C;ENSP00000404584:R183C	ENSP00000362352:R249C	R	+	1	0	H2AFY2	71530026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.461000	0.53035	2.697000	0.92050	0.655000	0.94253	CGC	H2AFY2	-	pfam_A1pp,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp	ENSG00000099284		0.527	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFY2	HGNC	protein_coding	OTTHUMT00000048480.2	21	0.00	0	C	NM_018649		71860020	71860020	+1	no_errors	ENST00000373255	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
H2AFY2	55506	genome.wustl.edu	37	10	71860020	71860020	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:71860020C>T	ENST00000373255.4	+	7	1009	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	249	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|transcription regulatory region DNA binding (GO:0044212)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						AAAGGAGCTTCGCAAATCCCA	0.527																																						dbGAP											0													59.0	53.0	55.0					10																	71860020		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF336304	CCDS7296.1	10q22.1	2011-01-27			ENSG00000099284	ENSG00000099284		"""Histones / Replication-independent"""	14453	protein-coding gene	gene with protein product						11331621, 11262398	Standard	NM_018649		Approved	macroH2A2	uc001jqm.3	Q9P0M6	OTTHUMG00000018396	ENST00000373255.4:c.745C>T	10.37:g.71860020C>T	ENSP00000362352:p.Arg249Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SQT2	Missense_Mutation	SNP	pfam_A1pp,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp,prints_Histone_H2A	p.R249C	ENST00000373255.4	37	c.745	CCDS7296.1	10	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489817	0.84962	.	.	ENSG00000099284	ENST00000373255;ENST00000395046;ENST00000455786	T;T	0.23552	1.9;1.9	5.71	5.71	0.89125	Appr-1-p processing (2);	0.000000	0.85682	D	0.000000	T	0.42630	0.1211	L	0.46157	1.445	0.80722	D	1	D	0.89917	1.0	P	0.58172	0.834	T	0.17992	-1.0351	10	0.72032	D	0.01	.	19.465	0.94934	0.0:1.0:0.0:0.0	.	249	Q9P0M6	H2AW_HUMAN	C	249;183;183	ENSP00000362352:R249C;ENSP00000404584:R183C	ENSP00000362352:R249C	R	+	1	0	H2AFY2	71530026	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.461000	0.53035	2.697000	0.92050	0.655000	0.94253	CGC	H2AFY2	-	pfam_A1pp,smart_A1pp,pirsf_Core_histone_macro-H2A,pfscan_A1pp	ENSG00000099284		0.527	H2AFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2AFY2	HGNC	protein_coding	OTTHUMT00000048480.2	22	0.00	0	C	NM_018649		71860020	71860020	+1	no_errors	ENST00000373255	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	T
HDAC4	9759	genome.wustl.edu	37	2	240056103	240056103	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:240056103G>C	ENST00000345617.3	-	11	1923	c.1132C>G	c.(1132-1134)Ctt>Gtt	p.L378V	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.L347V|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	378					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGGCGGGAAGGGTGAGTCTC	0.682																																						dbGAP											0													43.0	33.0	37.0					2																	240056103		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1132C>G	2.37:g.240056103G>C	ENSP00000264606:p.Leu378Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.L378V	ENST00000345617.3	37	c.1132	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	7.413	0.635050	0.14322	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.58060	0.36;1.5	4.32	3.34	0.38264	.	0.222843	0.38217	N	0.001766	T	0.42854	0.1221	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B	0.18461	0.028;0.003;0.003;0.007;0.001;0.001	B;B;B;B;B;B	0.16722	0.012;0.013;0.014;0.016;0.002;0.002	T	0.31530	-0.9940	9	.	.	.	.	13.362	0.60661	0.0:0.0:0.7798:0.2202	.	373;261;347;347;346;378	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	V	378;261;347;261	ENSP00000264606:L378V;ENSP00000443057:L347V	.	L	-	1	0	HDAC4	239721040	0.812000	0.29077	0.870000	0.34147	0.322000	0.28314	0.838000	0.27572	2.339000	0.79563	0.561000	0.74099	CTT	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	108	0.00	0	G	NM_006037		240056103	240056103	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	0.959	C
HDAC4	9759	genome.wustl.edu	37	2	240056103	240056103	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:240056103G>C	ENST00000345617.3	-	11	1923	c.1132C>G	c.(1132-1134)Ctt>Gtt	p.L378V	HDAC4_ENST00000553145.1_5'UTR|HDAC4_ENST00000541256.1_Missense_Mutation_p.L347V|HDAC4_ENST00000543185.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	378					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AGGGCGGGAAGGGTGAGTCTC	0.682																																						dbGAP											0													43.0	33.0	37.0					2																	240056103		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1132C>G	2.37:g.240056103G>C	ENSP00000264606:p.Leu378Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.L378V	ENST00000345617.3	37	c.1132	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	7.413	0.635050	0.14322	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000541256;ENST00000393621	T;T	0.58060	0.36;1.5	4.32	3.34	0.38264	.	0.222843	0.38217	N	0.001766	T	0.42854	0.1221	L	0.43152	1.355	0.80722	D	1	B;B;B;B;B;B	0.18461	0.028;0.003;0.003;0.007;0.001;0.001	B;B;B;B;B;B	0.16722	0.012;0.013;0.014;0.016;0.002;0.002	T	0.31530	-0.9940	9	.	.	.	.	13.362	0.60661	0.0:0.0:0.7798:0.2202	.	373;261;347;347;346;378	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	V	378;261;347;261	ENSP00000264606:L378V;ENSP00000443057:L347V	.	L	-	1	0	HDAC4	239721040	0.812000	0.29077	0.870000	0.34147	0.322000	0.28314	0.838000	0.27572	2.339000	0.79563	0.561000	0.74099	CTT	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	75	0.00	0	G	NM_006037		240056103	240056103	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	0.959	C
HEATR1	55127	genome.wustl.edu	37	1	236734734	236734734	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:236734734C>G	ENST00000366582.3	-	28	3979	c.3865G>C	c.(3865-3867)Gtt>Ctt	p.V1289L	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1208L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1289					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGCACTGAACTATCAACTCC	0.438																																						dbGAP											0													81.0	80.0	81.0					1																	236734734		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3865G>C	1.37:g.236734734C>G	ENSP00000355541:p.Val1289Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.V1289L	ENST00000366582.3	37	c.3865	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.240537	0.95240	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;0.05	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.79926	2.475	0.80722	D	1	P;D	0.69078	0.922;0.997	P;P	0.60286	0.573;0.872	T	0.82894	-0.0231	10	0.52906	T	0.07	.	19.0871	0.93209	0.0:1.0:0.0:0.0	.	1208;1289	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	1289;1208	ENSP00000355541:V1289L;ENSP00000355540:V1208L	ENSP00000355540:V1208L	V	-	1	0	HEATR1	234801357	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	7.487000	0.81328	2.504000	0.84457	0.585000	0.79938	GTT	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.438	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	31	0.00	0	C	XM_375853		236734734	236734734	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	G
HEATR1	55127	genome.wustl.edu	37	1	236734734	236734734	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:236734734C>G	ENST00000366582.3	-	28	3979	c.3865G>C	c.(3865-3867)Gtt>Ctt	p.V1289L	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1208L	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1289					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ATGCACTGAACTATCAACTCC	0.438																																						dbGAP											0													81.0	80.0	81.0					1																	236734734		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3865G>C	1.37:g.236734734C>G	ENSP00000355541:p.Val1289Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.V1289L	ENST00000366582.3	37	c.3865	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.240537	0.95240	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;0.05	5.36	5.36	0.76844	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81346	0.4803	M	0.79926	2.475	0.80722	D	1	P;D	0.69078	0.922;0.997	P;P	0.60286	0.573;0.872	T	0.82894	-0.0231	10	0.52906	T	0.07	.	19.0871	0.93209	0.0:1.0:0.0:0.0	.	1208;1289	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	L	1289;1208	ENSP00000355541:V1289L;ENSP00000355540:V1208L	ENSP00000355540:V1208L	V	-	1	0	HEATR1	234801357	1.000000	0.71417	0.998000	0.56505	0.858000	0.48976	7.487000	0.81328	2.504000	0.84457	0.585000	0.79938	GTT	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.438	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	31	0.00	0	C	XM_375853		236734734	236734734	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	missense	31	18.42	7	SNP	1.000	G
HEATR1	55127	genome.wustl.edu	37	1	236759077	236759077	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:236759077C>T	ENST00000366582.3	-	7	1071				HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			aaaaattattcaaaataattt	0.313																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.956+55G>A	1.37:g.236759077C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	RNA	SNP	-	NULL	ENST00000366582.3	37	NULL	CCDS31066.1	1																																																																																			HEATR1	-	-	ENSG00000119285		0.313	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	15	0.00	0	C	XM_375853		236759077	236759077	-1	no_errors	ENST00000483073	ensembl	human	known	69_37n	rna	33	19.51	8	SNP	0.001	T
HEATR1	55127	genome.wustl.edu	37	1	236759077	236759077	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:236759077C>T	ENST00000366582.3	-	7	1071				HEATR1_ENST00000483073.1_5'UTR|HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1						rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			aaaaattattcaaaataattt	0.313																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.956+55G>A	1.37:g.236759077C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	RNA	SNP	-	NULL	ENST00000366582.3	37	NULL	CCDS31066.1	1																																																																																			HEATR1	-	-	ENSG00000119285		0.313	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	33	0.00	0	C	XM_375853		236759077	236759077	-1	no_errors	ENST00000483073	ensembl	human	known	69_37n	rna	33	19.51	8	SNP	0.001	T
HECTD2	143279	genome.wustl.edu	37	10	93220311	93220311	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:93220311G>A	ENST00000298068.5	+	3	490	c.396G>A	c.(394-396)gtG>gtA	p.V132V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Silent_p.V132V|HECTD2_ENST00000446394.1_Silent_p.V132V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	132					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAAAACTGTGAAAGACTTTC	0.348																																					NSCLC(12;376 469 1699 39910 41417)	dbGAP											0													104.0	96.0	99.0					10																	93220311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.396G>A	10.37:g.93220311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.V132	ENST00000298068.5	37	c.396	CCDS7414.1	10																																																																																			HECTD2	-	NULL	ENSG00000165338		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	29	0.00	0	G			93220311	93220311	+1	no_errors	ENST00000446394	ensembl	human	known	69_37n	silent	19	40.62	13	SNP	1.000	A
HECTD2	143279	genome.wustl.edu	37	10	93220311	93220311	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:93220311G>A	ENST00000298068.5	+	3	490	c.396G>A	c.(394-396)gtG>gtA	p.V132V	HECTD2_ENST00000536715.1_5'Flank|HECTD2_ENST00000371681.4_Silent_p.V132V|HECTD2_ENST00000446394.1_Silent_p.V132V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	132					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)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CCAAAACTGTGAAAGACTTTC	0.348																																					NSCLC(12;376 469 1699 39910 41417)	dbGAP											0													104.0	96.0	99.0					10																	93220311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.396G>A	10.37:g.93220311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Silent	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.V132	ENST00000298068.5	37	c.396	CCDS7414.1	10																																																																																			HECTD2	-	NULL	ENSG00000165338		0.348	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	51	0.00	0	G			93220311	93220311	+1	no_errors	ENST00000446394	ensembl	human	known	69_37n	silent	19	40.62	13	SNP	1.000	A
HHLA3	11147	genome.wustl.edu	37	1	70820799	70820799	+	Silent	SNP	G	G	A	rs368043207		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:70820799G>A	ENST00000359875.5	+	1	305	c.165G>A	c.(163-165)acG>acA	p.T55T	HHLA3_ENST00000486110.1_3'UTR|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000370940.5_Intron|HHLA3_ENST00000432224.1_Silent_p.T55T|HHLA3_ENST00000361764.4_Intron|HHLA3_ENST00000531950.1_Silent_p.T55T|ANKRD13C_ENST00000262346.6_5'Flank	NM_001036645.1	NP_001031722.1	Q9XRX5	HHLA3_HUMAN	HERV-H LTR-associating 3	55										large_intestine(3)|lung(1)	4						ccgtatgtacgaagctagcaa	0.502																																						dbGAP											0													92.0	72.0	78.0					1																	70820799		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF126164	CCDS649.1, CCDS30752.1, CCDS30753.1	1p31.1	2008-02-05			ENSG00000197568	ENSG00000197568			4906	protein-coding gene	gene with protein product		604372				10444326	Standard	NR_027404		Approved		uc001dfa.3	Q9XRX5	OTTHUMG00000009346	ENST00000359875.5:c.165G>A	1.37:g.70820799G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ74|Q5VZP2|Q96FH5|Q9XRX4	Silent	SNP	NULL	p.T55	ENST00000359875.5	37	c.165	CCDS30753.1	1																																																																																			HHLA3	-	NULL	ENSG00000197568		0.502	HHLA3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	HHLA3	HGNC	protein_coding	OTTHUMT00000025911.2	65	0.00	0	G	NM_007071		70820799	70820799	+1	no_errors	ENST00000432224	ensembl	human	known	69_37n	silent	35	14.63	6	SNP	0.000	A
HIPK4	147746	genome.wustl.edu	37	19	40895447	40895447	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:40895447G>C	ENST00000291823.2	-	1	647	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAGGGCTGTGAGCACCTGCA	0.597																																						dbGAP											0													62.0	65.0	64.0					19																	40895447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.363C>G	19.37:g.40895447G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K863|Q96M54	Silent	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	p.L121	ENST00000291823.2	37	c.363	CCDS12555.1	19																																																																																			HIPK4	-	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	ENSG00000160396		0.597	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	72	0.00	0	G	NM_144685		40895447	40895447	-1	no_errors	ENST00000291823	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.871	C
HIPK4	147746	genome.wustl.edu	37	19	40895447	40895447	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:40895447G>C	ENST00000291823.2	-	1	647	c.363C>G	c.(361-363)ctC>ctG	p.L121L		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of signal transduction by p53 class mediator (GO:1901796)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCAGGGCTGTGAGCACCTGCA	0.597																																						dbGAP											0													62.0	65.0	64.0					19																	40895447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC034501	CCDS12555.1	19q13.2	2008-02-05				ENSG00000160396			19007	protein-coding gene	gene with protein product		611712					Standard	NM_144685		Approved	FLJ32818	uc002onp.3	Q8NE63		ENST00000291823.2:c.363C>G	19.37:g.40895447G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K863|Q96M54	Silent	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	p.L121	ENST00000291823.2	37	c.363	CCDS12555.1	19																																																																																			HIPK4	-	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	ENSG00000160396		0.597	HIPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIPK4	HGNC	protein_coding	OTTHUMT00000462593.1	45	0.00	0	G	NM_144685		40895447	40895447	-1	no_errors	ENST00000291823	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.871	C
HIST1H4D	8360	genome.wustl.edu	37	6	26189128	26189128	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:26189128C>T	ENST00000340756.2	-	1	176	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GGAAAACTTTCAGCACTCCGC	0.557																																						dbGAP											0													87.0	82.0	83.0					6																	26189128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.177G>A	6.37:g.26189128C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L59	ENST00000340756.2	37	c.177	CCDS4589.1	6																																																																																			HIST1H4D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000188987		0.557	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	68	0.00	0	C	NM_003539		26189128	26189128	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	silent	46	33.33	23	SNP	0.935	T
HIST1H4D	8360	genome.wustl.edu	37	6	26189128	26189128	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:26189128C>T	ENST00000340756.2	-	1	176	c.177G>A	c.(175-177)ctG>ctA	p.L59L		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	59					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				GGAAAACTTTCAGCACTCCGC	0.557																																						dbGAP											0													87.0	82.0	83.0					6																	26189128		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.177G>A	6.37:g.26189128C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.L59	ENST00000340756.2	37	c.177	CCDS4589.1	6																																																																																			HIST1H4D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000188987		0.557	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	72	0.00	0	C	NM_003539		26189128	26189128	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	silent	46	33.33	23	SNP	0.935	T
HIST1H4D	8360	genome.wustl.edu	37	6	26189135	26189135	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:26189135C>A	ENST00000340756.2	-	1	169	c.170G>T	c.(169-171)gGa>gTa	p.G57V		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	57					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TTTCAGCACTCCGCGAGTTTC	0.557																																						dbGAP											0													77.0	73.0	75.0					6																	26189135		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.170G>T	6.37:g.26189135C>A	ENSP00000343282:p.Gly57Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.G57V	ENST00000340756.2	37	c.170	CCDS4589.1	6	.	.	.	.	.	.	.	.	.	.	.	19.60	3.858893	0.71834	.	.	ENSG00000188987	ENST00000340756	T	0.67865	-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79191	-0.1905	7	0.72032	D	0.01	.	17.9848	0.89153	0.0:1.0:0.0:0.0	.	.	.	.	V	57	ENSP00000343282:G57V	ENSP00000343282:G57V	G	-	2	0	HIST1H4D	26297114	1.000000	0.71417	0.952000	0.39060	0.016000	0.09150	7.363000	0.79516	2.494000	0.84150	0.650000	0.86243	GGA	HIST1H4D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000188987		0.557	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	60	0.00	0	C	NM_003539		26189135	26189135	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	A
HIST1H4D	8360	genome.wustl.edu	37	6	26189135	26189135	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:26189135C>A	ENST00000340756.2	-	1	169	c.170G>T	c.(169-171)gGa>gTa	p.G57V		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	57					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TTTCAGCACTCCGCGAGTTTC	0.557																																						dbGAP											0													77.0	73.0	75.0					6																	26189135		2203	4300	6503	-	-	-	SO:0001583	missense	0			X60482	CCDS4589.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000188987	ENSG00000277157		"""Histones / Replication-dependent"""	4782	protein-coding gene	gene with protein product		602823	"""H4 histone family, member B"", ""histone 1, H4d"""	H4FB		9119399, 12408966	Standard	NM_003539		Approved	H4/b	uc003ngu.3	P62805	OTTHUMG00000014423	ENST00000340756.2:c.170G>T	6.37:g.26189135C>A	ENSP00000343282:p.Gly57Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.G57V	ENST00000340756.2	37	c.170	CCDS4589.1	6	.	.	.	.	.	.	.	.	.	.	.	19.60	3.858893	0.71834	.	.	ENSG00000188987	ENST00000340756	T	0.67865	-0.29	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.76307	0.3969	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.79191	-0.1905	7	0.72032	D	0.01	.	17.9848	0.89153	0.0:1.0:0.0:0.0	.	.	.	.	V	57	ENSP00000343282:G57V	ENSP00000343282:G57V	G	-	2	0	HIST1H4D	26297114	1.000000	0.71417	0.952000	0.39060	0.016000	0.09150	7.363000	0.79516	2.494000	0.84150	0.650000	0.86243	GGA	HIST1H4D	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000188987		0.557	HIST1H4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4D	HGNC	protein_coding	OTTHUMT00000040085.1	69	0.00	0	C	NM_003539		26189135	26189135	-1	no_errors	ENST00000340756	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	1.000	A
HIST1H2BG	8339	genome.wustl.edu	37	6	26216716	26216716	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:26216716A>T	ENST00000244601.3	-	1	156	c.156T>A	c.(154-156)gaT>gaA	p.D52E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	52					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGATGCCAGTATCGGGGTGAA	0.532																																						dbGAP											0													243.0	219.0	227.0					6																	26216716		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.156T>A	6.37:g.26216716A>T	ENSP00000244601:p.Asp52Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D52E	ENST00000244601.3	37	c.156	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367802	0.24771	.	.	ENSG00000187990	ENST00000244601	T	0.18810	2.19	3.94	2.02	0.26589	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.25968	N	0.982531	.	.	.	.	.	.	T	0.18681	-1.0329	6	0.72032	D	0.01	.	7.2615	0.26205	0.2848:0.0:0.7152:0.0	.	.	.	.	E	52	ENSP00000244601:D52E	ENSP00000244601:D52E	D	-	3	2	HIST1H2BG	26324695	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.705000	0.47127	0.419000	0.25927	-1.064000	0.02280	GAT	HIST1H2BG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000187990		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	149	0.00	0	A	NM_003518		26216716	26216716	-1	no_errors	ENST00000244601	ensembl	human	known	69_37n	missense	116	23.18	35	SNP	1.000	T
HIST1H2BG	8339	genome.wustl.edu	37	6	26216716	26216716	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:26216716A>T	ENST00000244601.3	-	1	156	c.156T>A	c.(154-156)gaT>gaA	p.D52E	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	52					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AGATGCCAGTATCGGGGTGAA	0.532																																						dbGAP											0													243.0	219.0	227.0					6																	26216716		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.156T>A	6.37:g.26216716A>T	ENSP00000244601:p.Asp52Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D52E	ENST00000244601.3	37	c.156	CCDS4594.1	6	.	.	.	.	.	.	.	.	.	.	.	10.50	1.367802	0.24771	.	.	ENSG00000187990	ENST00000244601	T	0.18810	2.19	3.94	2.02	0.26589	.	.	.	.	.	T	0.10809	0.0264	.	.	.	0.25968	N	0.982531	.	.	.	.	.	.	T	0.18681	-1.0329	6	0.72032	D	0.01	.	7.2615	0.26205	0.2848:0.0:0.7152:0.0	.	.	.	.	E	52	ENSP00000244601:D52E	ENSP00000244601:D52E	D	-	3	2	HIST1H2BG	26324695	1.000000	0.71417	1.000000	0.80357	0.007000	0.05969	2.705000	0.47127	0.419000	0.25927	-1.064000	0.02280	GAT	HIST1H2BG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000187990		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BG	HGNC	protein_coding	OTTHUMT00000040109.2	91	0.00	0	A	NM_003518		26216716	26216716	-1	no_errors	ENST00000244601	ensembl	human	known	69_37n	missense	116	23.18	35	SNP	1.000	T
HIST2H2BE	8349	genome.wustl.edu	37	1	149857928	149857928	+	Missense_Mutation	SNP	G	G	C	rs140727892		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:149857928G>C	ENST00000369155.2	-	1	304	c.263C>G	c.(262-264)tCc>tGc	p.S88C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	88					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTGATGGTGGAGCGCTTGTT	0.647																																						dbGAP											0													65.0	63.0	63.0					1																	149857928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.263C>G	1.37:g.149857928G>C	ENSP00000358151:p.Ser88Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S88C	ENST00000369155.2	37	c.263	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920759	0.92249	.	.	ENSG00000184678	ENST00000369155	T	0.27256	1.68	5.88	5.88	0.94601	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	T	0.47820	0.1466	M	0.82056	2.57	0.44807	D	0.997813	D	0.76494	0.999	D	0.66084	0.941	T	0.49818	-0.8899	10	0.87932	D	0	.	18.8885	0.92389	0.0:0.0:1.0:0.0	.	88	Q16778	H2B2E_HUMAN	C	88	ENSP00000358151:S88C	ENSP00000358151:S88C	S	-	2	0	HIST2H2BE	148124552	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.542000	0.67218	2.806000	0.96561	0.580000	0.79431	TCC	HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000184678		0.647	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	112	0.00	0	G	NM_003528		149857928	149857928	-1	no_errors	ENST00000369155	ensembl	human	known	69_37n	missense	113	17.99	25	SNP	1.000	C
HIST2H2BE	8349	genome.wustl.edu	37	1	149857928	149857928	+	Missense_Mutation	SNP	G	G	C	rs140727892		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:149857928G>C	ENST00000369155.2	-	1	304	c.263C>G	c.(262-264)tCc>tGc	p.S88C	BOLA1_ENST00000369153.2_5'Flank|HIST2H2AC_ENST00000331380.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	88					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGTGATGGTGGAGCGCTTGTT	0.647																																						dbGAP											0													65.0	63.0	63.0					1																	149857928		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.263C>G	1.37:g.149857928G>C	ENSP00000358151:p.Ser88Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S88C	ENST00000369155.2	37	c.263	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920759	0.92249	.	.	ENSG00000184678	ENST00000369155	T	0.27256	1.68	5.88	5.88	0.94601	Histone-fold (2);Histone core (1);	0.000000	0.64402	D	0.000001	T	0.47820	0.1466	M	0.82056	2.57	0.44807	D	0.997813	D	0.76494	0.999	D	0.66084	0.941	T	0.49818	-0.8899	10	0.87932	D	0	.	18.8885	0.92389	0.0:0.0:1.0:0.0	.	88	Q16778	H2B2E_HUMAN	C	88	ENSP00000358151:S88C	ENSP00000358151:S88C	S	-	2	0	HIST2H2BE	148124552	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.542000	0.67218	2.806000	0.96561	0.580000	0.79431	TCC	HIST2H2BE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000184678		0.647	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	HGNC	protein_coding	OTTHUMT00000033455.1	105	0.00	0	G	NM_003528		149857928	149857928	-1	no_errors	ENST00000369155	ensembl	human	known	69_37n	missense	113	17.99	25	SNP	1.000	C
HMCN1	83872	genome.wustl.edu	37	1	185969325	185969325	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:185969325C>T	ENST00000271588.4	+	26	4252	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V	HMCN1_ENST00000367492.2_Silent_p.V1341V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1341	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTGGCAGTCAATGAAGCTG	0.423																																						dbGAP											0													121.0	109.0	113.0					1																	185969325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4023C>T	1.37:g.185969325C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.V1341	ENST00000271588.4	37	c.4023	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	40	0.00	0	C	NM_031935		185969325	185969325	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	42	19.23	10	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185969325	185969325	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:185969325C>T	ENST00000271588.4	+	26	4252	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V	HMCN1_ENST00000367492.2_Silent_p.V1341V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1341	Ig-like C2-type 10.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGTGGCAGTCAATGAAGCTG	0.423																																						dbGAP											0													121.0	109.0	113.0					1																	185969325		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.4023C>T	1.37:g.185969325C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.V1341	ENST00000271588.4	37	c.4023	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	41	0.00	0	C	NM_031935		185969325	185969325	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	42	19.23	10	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186158822	186158822	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:186158822G>A	ENST00000271588.4	+	107	16949	c.16720G>A	c.(16720-16722)Gag>Aag	p.E5574K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5457K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5574					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGGTAGATGAGGAACAGAC	0.483																																						dbGAP											0													87.0	75.0	79.0					1																	186158822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16720G>A	1.37:g.186158822G>A	ENSP00000271588:p.Glu5574Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E5574K	ENST00000271588.4	37	c.16720	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056298	0.76074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64260	-0.08;-0.09	5.91	5.91	0.95273	.	0.096735	0.64402	D	0.000001	T	0.55226	0.1907	L	0.38531	1.155	0.31465	N	0.669113	P	0.40731	0.728	B	0.35114	0.196	T	0.64525	-0.6387	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	5574	Q96RW7	HMCN1_HUMAN	K	5574;5457	ENSP00000271588:E5574K;ENSP00000356462:E5457K	ENSP00000271588:E5574K	E	+	1	0	HMCN1	184425445	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.545000	0.67237	2.793000	0.96121	0.655000	0.94253	GAG	HMCN1	-	superfamily_Cadherin-like	ENSG00000143341		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	59	0.00	0	G	NM_031935		186158822	186158822	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	186158822	186158822	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:186158822G>A	ENST00000271588.4	+	107	16949	c.16720G>A	c.(16720-16722)Gag>Aag	p.E5574K	HMCN1_ENST00000367492.2_Missense_Mutation_p.E5457K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5574					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATGGTAGATGAGGAACAGAC	0.483																																						dbGAP											0													87.0	75.0	79.0					1																	186158822		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16720G>A	1.37:g.186158822G>A	ENSP00000271588:p.Glu5574Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.E5574K	ENST00000271588.4	37	c.16720	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056298	0.76074	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64260	-0.08;-0.09	5.91	5.91	0.95273	.	0.096735	0.64402	D	0.000001	T	0.55226	0.1907	L	0.38531	1.155	0.31465	N	0.669113	P	0.40731	0.728	B	0.35114	0.196	T	0.64525	-0.6387	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	5574	Q96RW7	HMCN1_HUMAN	K	5574;5457	ENSP00000271588:E5574K;ENSP00000356462:E5457K	ENSP00000271588:E5574K	E	+	1	0	HMCN1	184425445	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	5.545000	0.67237	2.793000	0.96121	0.655000	0.94253	GAG	HMCN1	-	superfamily_Cadherin-like	ENSG00000143341		0.483	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	45	0.00	0	G	NM_031935		186158822	186158822	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	1.000	A
HMG20A	10363	genome.wustl.edu	37	15	77759492	77759492	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:77759492G>C	ENST00000381714.3	+	5	721	c.293G>C	c.(292-294)cGa>cCa	p.R98P	HMG20A_ENST00000336216.4_Missense_Mutation_p.R98P	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	98					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAACCTCTTCGAGACAGCAAT	0.428																																						dbGAP											0													87.0	84.0	85.0					15																	77759492		2196	4294	6490	-	-	-	SO:0001583	missense	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.293G>C	15.37:g.77759492G>C	ENSP00000371133:p.Arg98Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R98P	ENST00000381714.3	37	c.293	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409531	0.62399	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	D;D	0.93859	-3.3;-3.3	5.95	5.95	0.96441	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.113273	0.64402	D	0.000020	D	0.94085	0.8104	L	0.29908	0.895	0.49915	D	0.999834	D	0.67145	0.996	P	0.62184	0.899	D	0.92898	0.6337	10	0.35671	T	0.21	-14.1603	20.3886	0.98946	0.0:0.0:1.0:0.0	.	98	Q9NP66	HM20A_HUMAN	P	98	ENSP00000336856:R98P;ENSP00000371133:R98P	ENSP00000336856:R98P	R	+	2	0	HMG20A	75546547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.386000	0.79775	2.810000	0.96702	0.650000	0.86243	CGA	HMG20A	-	superfamily_HMG_superfamily	ENSG00000140382		0.428	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	35	0.00	0	G	NM_018200		77759492	77759492	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	C
HMG20A	10363	genome.wustl.edu	37	15	77759492	77759492	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:77759492G>C	ENST00000381714.3	+	5	721	c.293G>C	c.(292-294)cGa>cCa	p.R98P	HMG20A_ENST00000336216.4_Missense_Mutation_p.R98P	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	98					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AAACCTCTTCGAGACAGCAAT	0.428																																						dbGAP											0													87.0	84.0	85.0					15																	77759492		2196	4294	6490	-	-	-	SO:0001583	missense	0			AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.293G>C	15.37:g.77759492G>C	ENSP00000371133:p.Arg98Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R98P	ENST00000381714.3	37	c.293	CCDS10295.1	15	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409531	0.62399	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	D;D	0.93859	-3.3;-3.3	5.95	5.95	0.96441	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (1);	0.113273	0.64402	D	0.000020	D	0.94085	0.8104	L	0.29908	0.895	0.49915	D	0.999834	D	0.67145	0.996	P	0.62184	0.899	D	0.92898	0.6337	10	0.35671	T	0.21	-14.1603	20.3886	0.98946	0.0:0.0:1.0:0.0	.	98	Q9NP66	HM20A_HUMAN	P	98	ENSP00000336856:R98P;ENSP00000371133:R98P	ENSP00000336856:R98P	R	+	2	0	HMG20A	75546547	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.386000	0.79775	2.810000	0.96702	0.650000	0.86243	CGA	HMG20A	-	superfamily_HMG_superfamily	ENSG00000140382		0.428	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMG20A	HGNC	protein_coding	OTTHUMT00000419512.2	34	0.00	0	G	NM_018200		77759492	77759492	+1	no_errors	ENST00000336216	ensembl	human	known	69_37n	missense	23	25.81	8	SNP	1.000	C
HMGN5	79366	genome.wustl.edu	37	X	80377094	80377094	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:80377094G>A	ENST00000358130.2	-	0	283				HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5						chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						AAAAAAAGCCGAAGGCAGTCA	0.443													G|||	1	0.000264901	0.0	0.0	3775	,	,		12888	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													133.0	109.0	117.0					X																	80377094		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.-46C>T	X.37:g.80377094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSL1	RNA	SNP	-	NULL	ENST00000358130.2	37	NULL	CCDS14448.1	X																																																																																			HMGN5	-	-	ENSG00000198157		0.443	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	39	0.00	0	G	NM_030763		80377094	80377094	-1	no_errors	ENST00000491275	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.000	A
HMGN5	79366	genome.wustl.edu	37	X	80377094	80377094	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:80377094G>A	ENST00000358130.2	-	0	283				HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5						chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						AAAAAAAGCCGAAGGCAGTCA	0.443													G|||	1	0.000264901	0.0	0.0	3775	,	,		12888	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													133.0	109.0	117.0					X																	80377094		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.-46C>T	X.37:g.80377094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSL1	RNA	SNP	-	NULL	ENST00000358130.2	37	NULL	CCDS14448.1	X																																																																																			HMGN5	-	-	ENSG00000198157		0.443	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	31	0.00	0	G	NM_030763		80377094	80377094	-1	no_errors	ENST00000491275	ensembl	human	known	69_37n	rna	26	18.75	6	SNP	0.000	A
HNRNPF	3185	genome.wustl.edu	37	10	43882982	43882982	+	Silent	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:43882982T>A	ENST00000544000.1	-	4	758	c.351A>T	c.(349-351)ggA>ggT	p.G117G	HNRNPF_ENST00000357065.4_Silent_p.G117G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Silent_p.G117G|HNRNPF_ENST00000443950.2_Silent_p.G117G|HNRNPF_ENST00000337970.3_Silent_p.G117G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	117	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAAATGGGAGTCCTCGAAGCC	0.527																																						dbGAP											0													123.0	106.0	112.0					10																	43882982		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.351A>T	10.37:g.43882982T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM84|Q5T0N2|Q96AU2	Silent	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.G117	ENST00000544000.1	37	c.351	CCDS7204.1	10																																																																																			HNRNPF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169813		0.527	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	55	0.00	0	T			43882982	43882982	-1	no_errors	ENST00000337970	ensembl	human	known	69_37n	silent	34	24.44	11	SNP	1.000	A
HNRNPF	3185	genome.wustl.edu	37	10	43882982	43882982	+	Silent	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:43882982T>A	ENST00000544000.1	-	4	758	c.351A>T	c.(349-351)ggA>ggT	p.G117G	HNRNPF_ENST00000357065.4_Silent_p.G117G|HNRNPF_ENST00000498176.1_5'Flank|HNRNPF_ENST00000356053.3_Silent_p.G117G|HNRNPF_ENST00000443950.2_Silent_p.G117G|HNRNPF_ENST00000337970.3_Silent_p.G117G	NM_001098207.1	NP_001091677.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	117	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAAATGGGAGTCCTCGAAGCC	0.527																																						dbGAP											0													123.0	106.0	112.0					10																	43882982		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7204.1	10q11.21	2013-02-12		2008-04-18	ENSG00000169813	ENSG00000169813		"""RNA binding motif (RRM) containing"""	5039	protein-coding gene	gene with protein product		601037		HNRPF		7499401	Standard	NM_001098208		Approved		uc001jas.2	P52597	OTTHUMG00000018029	ENST00000544000.1:c.351A>T	10.37:g.43882982T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KM84|Q5T0N2|Q96AU2	Silent	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.G117	ENST00000544000.1	37	c.351	CCDS7204.1	10																																																																																			HNRNPF	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000169813		0.527	HNRNPF-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPF	HGNC	protein_coding	OTTHUMT00000047705.2	34	0.00	0	T			43882982	43882982	-1	no_errors	ENST00000337970	ensembl	human	known	69_37n	silent	34	24.44	11	SNP	1.000	A
HORMAD1	84072	genome.wustl.edu	37	1	150671188	150671188	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:150671188G>C	ENST00000361824.2	-	15	1232	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S296C|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S369C|GOLPH3L_ENST00000540514.1_5'Flank|GOLPH3L_ENST00000479757.1_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S376C	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	376					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTGACTAGAAGAATCAAA	0.328																																						dbGAP											0													73.0	77.0	76.0					1																	150671188		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1127C>G	1.37:g.150671188G>C	ENSP00000355167:p.Ser376Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.S376C	ENST00000361824.2	37	c.1127	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665642	0.29604	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.50001	0.76;1.39;1.36;1.39	4.84	4.84	0.62591	.	1.296550	0.05176	N	0.500355	T	0.26991	0.0661	L	0.27053	0.805	0.32954	D	0.520159	B;B;B	0.18461	0.028;0.007;0.004	B;B;B	0.16722	0.01;0.016;0.007	T	0.04930	-1.0917	10	0.56958	D	0.05	-0.6421	16.4759	0.84132	0.0:0.0:1.0:0.0	.	296;369;376	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	C	296;376;305;296;369;376	ENSP00000357991:S296C;ENSP00000357989:S376C;ENSP00000326489:S369C;ENSP00000355167:S376C	ENSP00000326489:S369C	S	-	2	0	HORMAD1	148937812	1.000000	0.71417	0.972000	0.41901	0.612000	0.37316	4.318000	0.59190	2.202000	0.70862	0.400000	0.26472	TCT	HORMAD1	-	NULL	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	53	0.00	0	G	NM_032132		150671188	150671188	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.804	C
HORMAD1	84072	genome.wustl.edu	37	1	150671188	150671188	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:150671188G>C	ENST00000361824.2	-	15	1232	c.1127C>G	c.(1126-1128)tCt>tGt	p.S376C	GOLPH3L_ENST00000271732.3_5'Flank|HORMAD1_ENST00000368995.4_Missense_Mutation_p.S296C|HORMAD1_ENST00000322343.7_Missense_Mutation_p.S369C|GOLPH3L_ENST00000540514.1_5'Flank|GOLPH3L_ENST00000479757.1_5'Flank|HORMAD1_ENST00000368993.2_Missense_Mutation_p.S376C	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1	376					blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTTGACTAGAAGAATCAAA	0.328																																						dbGAP											0													73.0	77.0	76.0					1																	150671188		2203	4299	6502	-	-	-	SO:0001583	missense	0			AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.1127C>G	1.37:g.150671188G>C	ENSP00000355167:p.Ser376Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Missense_Mutation	SNP	pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd	p.S376C	ENST00000361824.2	37	c.1127	CCDS967.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.665642	0.29604	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	T;T;T;T	0.50001	0.76;1.39;1.36;1.39	4.84	4.84	0.62591	.	1.296550	0.05176	N	0.500355	T	0.26991	0.0661	L	0.27053	0.805	0.32954	D	0.520159	B;B;B	0.18461	0.028;0.007;0.004	B;B;B	0.16722	0.01;0.016;0.007	T	0.04930	-1.0917	10	0.56958	D	0.05	-0.6421	16.4759	0.84132	0.0:0.0:1.0:0.0	.	296;369;376	Q86X24-4;Q86X24-2;Q86X24	.;.;HORM1_HUMAN	C	296;376;305;296;369;376	ENSP00000357991:S296C;ENSP00000357989:S376C;ENSP00000326489:S369C;ENSP00000355167:S376C	ENSP00000326489:S369C	S	-	2	0	HORMAD1	148937812	1.000000	0.71417	0.972000	0.41901	0.612000	0.37316	4.318000	0.59190	2.202000	0.70862	0.400000	0.26472	TCT	HORMAD1	-	NULL	ENSG00000143452		0.328	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HORMAD1	HGNC	protein_coding	OTTHUMT00000084722.1	49	0.00	0	G	NM_032132		150671188	150671188	-1	no_errors	ENST00000361824	ensembl	human	known	69_37n	missense	49	12.50	7	SNP	0.804	C
HOXA11	3207	genome.wustl.edu	37	7	27222523	27222523	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:27222523G>C	ENST00000006015.3	-	2	905	c.834C>G	c.(832-834)ctC>ctG	p.L278L	HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	278					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGTGAGGTTGAGCATGCGGG	0.458			T	NUP98	CML																																	dbGAP		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													91.0	95.0	94.0					7																	27222523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.834C>G	7.37:g.27222523G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D190	Nonsense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S248*	ENST00000006015.3	37	c.743	CCDS5411.1	7	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663689	0.14710	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	.	S	-	2	0	HOXA11	27189048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.392000	0.66272	2.808000	0.96608	0.655000	0.94253	TCA	HOXA11	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000005073		0.458	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	79	0.00	0	G			27222523	27222523	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000517402	ensembl	human	putative	69_37n	nonsense	42	26.32	15	SNP	1.000	C
HOXA11	3207	genome.wustl.edu	37	7	27222523	27222523	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:27222523G>C	ENST00000006015.3	-	2	905	c.834C>G	c.(832-834)ctC>ctG	p.L278L	HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	278					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CAGTGAGGTTGAGCATGCGGG	0.458			T	NUP98	CML																																	dbGAP		Dom	yes		7	7p15-p14.2	3207	homeo box A11		L	0													91.0	95.0	94.0					7																	27222523		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.834C>G	7.37:g.27222523G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D190	Nonsense_Mutation	SNP	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S248*	ENST00000006015.3	37	c.743	CCDS5411.1	7	.	.	.	.	.	.	.	.	.	.	G	7.556	0.663689	0.14710	.	.	ENSG00000005073	ENST00000517402	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3052	0.98627	0.0:0.0:1.0:0.0	.	.	.	.	X	248	.	.	S	-	2	0	HOXA11	27189048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.392000	0.66272	2.808000	0.96608	0.655000	0.94253	TCA	HOXA11	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000005073		0.458	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	HOXA11	HGNC	protein_coding	OTTHUMT00000358754.1	76	0.00	0	G			27222523	27222523	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000517402	ensembl	human	putative	69_37n	nonsense	42	26.32	15	SNP	1.000	C
HOXD10	3236	genome.wustl.edu	37	2	176982240	176982240	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:176982240G>A	ENST00000249501.4	+	1	934	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	227					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CGGCCTTCCCGAAGAGAGGAG	0.627																																						dbGAP											0													23.0	29.0	27.0					2																	176982240		2193	4289	6482	-	-	-	SO:0001583	missense	0				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.679G>A	2.37:g.176982240G>A	ENSP00000249501:p.Glu227Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.E227K	ENST00000249501.4	37	c.679	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124483	0.56613	.	.	ENSG00000128710	ENST00000249501	D	0.94000	-3.33	5.96	5.96	0.96718	.	0.183173	0.56097	N	0.000025	D	0.91942	0.7448	L	0.60455	1.87	0.50171	D	0.999856	B	0.15141	0.012	B	0.08055	0.003	D	0.87183	0.2229	10	0.21540	T	0.41	.	20.4559	0.99141	0.0:0.0:1.0:0.0	.	227	P28358	HXD10_HUMAN	K	227	ENSP00000249501:E227K	ENSP00000249501:E227K	E	+	1	0	HOXD10	176690486	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.476000	0.97823	2.843000	0.97960	0.650000	0.86243	GAA	HOXD10	-	NULL	ENSG00000128710		0.627	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	48	0.00	0	G			176982240	176982240	+1	no_errors	ENST00000249501	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
HOXD10	3236	genome.wustl.edu	37	2	176982240	176982240	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:176982240G>A	ENST00000249501.4	+	1	934	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	227					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CGGCCTTCCCGAAGAGAGGAG	0.627																																						dbGAP											0													23.0	29.0	27.0					2																	176982240		2193	4289	6482	-	-	-	SO:0001583	missense	0				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.679G>A	2.37:g.176982240G>A	ENSP00000249501:p.Glu227Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain	p.E227K	ENST00000249501.4	37	c.679	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124483	0.56613	.	.	ENSG00000128710	ENST00000249501	D	0.94000	-3.33	5.96	5.96	0.96718	.	0.183173	0.56097	N	0.000025	D	0.91942	0.7448	L	0.60455	1.87	0.50171	D	0.999856	B	0.15141	0.012	B	0.08055	0.003	D	0.87183	0.2229	10	0.21540	T	0.41	.	20.4559	0.99141	0.0:0.0:1.0:0.0	.	227	P28358	HXD10_HUMAN	K	227	ENSP00000249501:E227K	ENSP00000249501:E227K	E	+	1	0	HOXD10	176690486	1.000000	0.71417	0.995000	0.50966	0.977000	0.68977	9.476000	0.97823	2.843000	0.97960	0.650000	0.86243	GAA	HOXD10	-	NULL	ENSG00000128710		0.627	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	44	0.00	0	G			176982240	176982240	+1	no_errors	ENST00000249501	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	1.000	A
HSPA1L	3305	genome.wustl.edu	37	6	31779414	31779414	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:31779414C>G	ENST00000375654.4	-	2	525	c.336G>C	c.(334-336)gaG>gaC	p.E112D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E112D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	112					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAGCTTTATTCTCCCCTTTGT	0.433																																						dbGAP											0													97.0	97.0	97.0					6																	31779414		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.336G>C	6.37:g.31779414C>G	ENSP00000364805:p.Glu112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E112D	ENST00000375654.4	37	c.336	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241549	0.22711	.	.	ENSG00000204390	ENST00000375654;ENST00000417199	T;T	0.01172	5.23;5.23	4.36	1.55	0.23275	.	.	.	.	.	T	0.00845	0.0028	M	0.80847	2.515	0.52099	D	0.999948	B	0.02656	0.0	B	0.08055	0.003	T	0.39099	-0.9630	9	0.62326	D	0.03	.	8.228	0.31582	0.0:0.7215:0.0:0.2785	.	112	P34931	HS71L_HUMAN	D	112	ENSP00000364805:E112D;ENSP00000387691:E112D	ENSP00000364805:E112D	E	-	3	2	HSPA1L	31887393	0.677000	0.27577	0.630000	0.29268	0.948000	0.59901	0.701000	0.25616	0.106000	0.17784	0.460000	0.39030	GAG	HSPA1L	-	pfam_Hsp_70_fam	ENSG00000204390		0.433	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	66	0.00	0	C			31779414	31779414	-1	no_errors	ENST00000375654	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.927	G
HSPA1L	3305	genome.wustl.edu	37	6	31779414	31779414	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:31779414C>G	ENST00000375654.4	-	2	525	c.336G>C	c.(334-336)gaG>gaC	p.E112D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E112D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	112					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAGCTTTATTCTCCCCTTTGT	0.433																																						dbGAP											0													97.0	97.0	97.0					6																	31779414		2203	4300	6503	-	-	-	SO:0001583	missense	0			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.336G>C	6.37:g.31779414C>G	ENSP00000364805:p.Glu112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E112D	ENST00000375654.4	37	c.336	CCDS34413.1	6	.	.	.	.	.	.	.	.	.	.	C	10.04	1.241549	0.22711	.	.	ENSG00000204390	ENST00000375654;ENST00000417199	T;T	0.01172	5.23;5.23	4.36	1.55	0.23275	.	.	.	.	.	T	0.00845	0.0028	M	0.80847	2.515	0.52099	D	0.999948	B	0.02656	0.0	B	0.08055	0.003	T	0.39099	-0.9630	9	0.62326	D	0.03	.	8.228	0.31582	0.0:0.7215:0.0:0.2785	.	112	P34931	HS71L_HUMAN	D	112	ENSP00000364805:E112D;ENSP00000387691:E112D	ENSP00000364805:E112D	E	-	3	2	HSPA1L	31887393	0.677000	0.27577	0.630000	0.29268	0.948000	0.59901	0.701000	0.25616	0.106000	0.17784	0.460000	0.39030	GAG	HSPA1L	-	pfam_Hsp_70_fam	ENSG00000204390		0.433	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1L	HGNC	protein_coding	OTTHUMT00000076416.2	67	0.00	0	C			31779414	31779414	-1	no_errors	ENST00000375654	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	0.927	G
HUWE1	10075	genome.wustl.edu	37	X	53561010	53561010	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:53561010C>T	ENST00000342160.3	-	82	13437	c.12980G>A	c.(12979-12981)cGa>cAa	p.R4327Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4327Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4327	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R4217Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTCATCTCGATGGATCTG	0.493																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											157.0	119.0	132.0					X																	53561010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12980G>A	X.37:g.53561010C>T	ENSP00000340648:p.Arg4327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4327Q	ENST00000342160.3	37	c.12980	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837361	0.50951	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.60548	0.18;0.18	5.42	5.42	0.78866	HECT (4);	0.000000	0.64402	D	0.000001	T	0.77253	0.4103	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.64506	0.926;0.879	T	0.81143	-0.1067	10	0.87932	D	0	.	17.2866	0.87143	0.0:1.0:0.0:0.0	.	4327;4311	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	4327	ENSP00000340648:R4327Q;ENSP00000262854:R4327Q	ENSP00000262854:R4327Q	R	-	2	0	HUWE1	53577735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.959000	0.76031	2.436000	0.82500	0.529000	0.55759	CGA	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	66	0.00	0	C	XM_497119		53561010	53561010	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53561010	53561010	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:53561010C>T	ENST00000342160.3	-	82	13437	c.12980G>A	c.(12979-12981)cGa>cAa	p.R4327Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4327Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4327	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.R4217Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTCATCTCGATGGATCTG	0.493																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											157.0	119.0	132.0					X																	53561010		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12980G>A	X.37:g.53561010C>T	ENSP00000340648:p.Arg4327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.R4327Q	ENST00000342160.3	37	c.12980	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837361	0.50951	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.60548	0.18;0.18	5.42	5.42	0.78866	HECT (4);	0.000000	0.64402	D	0.000001	T	0.77253	0.4103	M	0.82323	2.585	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.64506	0.926;0.879	T	0.81143	-0.1067	10	0.87932	D	0	.	17.2866	0.87143	0.0:1.0:0.0:0.0	.	4327;4311	Q7Z6Z7;Q7Z6Z7-2	HUWE1_HUMAN;.	Q	4327	ENSP00000340648:R4327Q;ENSP00000262854:R4327Q	ENSP00000262854:R4327Q	R	-	2	0	HUWE1	53577735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.959000	0.76031	2.436000	0.82500	0.529000	0.55759	CGA	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	55	0.00	0	C	XM_497119		53561010	53561010	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	44	29.03	18	SNP	1.000	T
HYAL2	8692	genome.wustl.edu	37	3	50357515	50357515	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:50357515C>A	ENST00000447092.1	-	1	2698	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	HYAL2_ENST00000357750.4_Missense_Mutation_p.D136Y|HYAL2_ENST00000442581.1_Missense_Mutation_p.D136Y|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.D136Y			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	136					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTCGCCAGTCCTCCCAGTCG	0.597																																						dbGAP											0													86.0	82.0	83.0					3																	50357515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.406G>T	3.37:g.50357515C>A	ENSP00000401853:p.Asp136Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.D136Y	ENST00000447092.1	37	c.406	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872941	0.33069	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.29	2.37	0.29283	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.237140	0.49916	D	0.000121	T	0.20495	0.0493	N	0.20986	0.625	0.80722	D	1	P;B	0.42078	0.77;0.119	P;B	0.47470	0.548;0.285	T	0.02301	-1.1180	10	0.46703	T	0.11	-21.0002	6.7361	0.23411	0.0:0.5708:0.2817:0.1475	.	136;136	B3KRZ2;Q12891	.;HYAL2_HUMAN	Y	136	ENSP00000401853:D136Y;ENSP00000350387:D136Y;ENSP00000378571:D136Y;ENSP00000406657:D136Y	ENSP00000350387:D136Y	D	-	1	0	HYAL2	50332519	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	4.783000	0.62403	0.758000	0.33059	0.557000	0.71058	GAC	HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	ENSG00000068001		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	49	0.00	0	C	NM_003773		50357515	50357515	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	A
HYAL2	8692	genome.wustl.edu	37	3	50357515	50357515	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:50357515C>A	ENST00000447092.1	-	1	2698	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	HYAL2_ENST00000357750.4_Missense_Mutation_p.D136Y|HYAL2_ENST00000442581.1_Missense_Mutation_p.D136Y|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000395139.3_Missense_Mutation_p.D136Y			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	136					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGTCGCCAGTCCTCCCAGTCG	0.597																																						dbGAP											0													86.0	82.0	83.0					3																	50357515		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.406G>T	3.37:g.50357515C>A	ENSP00000401853:p.Asp136Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.D136Y	ENST00000447092.1	37	c.406	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	C	12.22	1.872941	0.33069	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	5.29	2.37	0.29283	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.237140	0.49916	D	0.000121	T	0.20495	0.0493	N	0.20986	0.625	0.80722	D	1	P;B	0.42078	0.77;0.119	P;B	0.47470	0.548;0.285	T	0.02301	-1.1180	10	0.46703	T	0.11	-21.0002	6.7361	0.23411	0.0:0.5708:0.2817:0.1475	.	136;136	B3KRZ2;Q12891	.;HYAL2_HUMAN	Y	136	ENSP00000401853:D136Y;ENSP00000350387:D136Y;ENSP00000378571:D136Y;ENSP00000406657:D136Y	ENSP00000350387:D136Y	D	-	1	0	HYAL2	50332519	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	4.783000	0.62403	0.758000	0.33059	0.557000	0.71058	GAC	HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	ENSG00000068001		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	41	0.00	0	C	NM_003773		50357515	50357515	-1	no_errors	ENST00000357750	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	1.000	A
IFI44	10561	genome.wustl.edu	37	1	79120818	79120818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:79120818C>A	ENST00000370747.4	+	4	699	c.614C>A	c.(613-615)tCa>tAa	p.S205*	IFI44_ENST00000545124.1_5'UTR|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	205					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTTTCAACTCAGTGAGGTCT	0.468																																						dbGAP											0													135.0	128.0	130.0					1																	79120818		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.614C>A	1.37:g.79120818C>A	ENSP00000359783:p.Ser205*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAG3|D3DQ80|Q14496	Nonsense_Mutation	SNP	pfam_TLDc	p.S205*	ENST00000370747.4	37	c.614	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495156	0.64186	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	.	.	.	3.85	3.85	0.44370	.	0.153533	0.44285	D	0.000461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7148	0.62689	0.0:1.0:0.0:0.0	.	.	.	.	X	205;81	.	ENSP00000359783:S205X	S	+	2	0	IFI44	78893406	1.000000	0.71417	0.683000	0.30040	0.360000	0.29518	3.809000	0.55606	2.435000	0.82474	0.563000	0.77884	TCA	IFI44	-	NULL	ENSG00000137965		0.468	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	54	0.00	0	C	NM_006417		79120818	79120818	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	nonsense	34	27.08	13	SNP	1.000	A
IFI44	10561	genome.wustl.edu	37	1	79120818	79120818	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:79120818C>A	ENST00000370747.4	+	4	699	c.614C>A	c.(613-615)tCa>tAa	p.S205*	IFI44_ENST00000545124.1_5'UTR|IFI44_ENST00000495254.1_3'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	205					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTTTCAACTCAGTGAGGTCT	0.468																																						dbGAP											0													135.0	128.0	130.0					1																	79120818		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.614C>A	1.37:g.79120818C>A	ENSP00000359783:p.Ser205*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAG3|D3DQ80|Q14496	Nonsense_Mutation	SNP	pfam_TLDc	p.S205*	ENST00000370747.4	37	c.614	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	C	17.87	3.495156	0.64186	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	.	.	.	3.85	3.85	0.44370	.	0.153533	0.44285	D	0.000461	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7148	0.62689	0.0:1.0:0.0:0.0	.	.	.	.	X	205;81	.	ENSP00000359783:S205X	S	+	2	0	IFI44	78893406	1.000000	0.71417	0.683000	0.30040	0.360000	0.29518	3.809000	0.55606	2.435000	0.82474	0.563000	0.77884	TCA	IFI44	-	NULL	ENSG00000137965		0.468	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	74	0.00	0	C	NM_006417		79120818	79120818	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	nonsense	34	27.08	13	SNP	1.000	A
IGDCC3	9543	genome.wustl.edu	37	15	65621781	65621781	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:65621781C>G	ENST00000327987.4	-	13	2403	c.2152G>C	c.(2152-2154)Gag>Cag	p.E718Q	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	718					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACAGCTGCTCCAGCTCCTTC	0.642																																						dbGAP											0													66.0	79.0	75.0					15																	65621781		2198	4295	6493	-	-	-	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2152G>C	15.37:g.65621781C>G	ENSP00000332773:p.Glu718Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E718Q	ENST00000327987.4	37	c.2152	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.152652	0.94645	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.69926	-0.44	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	L	0.29908	0.895	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	T	0.76833	-0.2813	10	0.87932	D	0	-29.7493	18.5659	0.91116	0.0:1.0:0.0:0.0	.	718	Q8IVU1	IGDC3_HUMAN	Q	718;542	ENSP00000332773:E718Q	ENSP00000332773:E718Q	E	-	1	0	IGDCC3	63408834	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.468000	0.73551	2.825000	0.97269	0.655000	0.94253	GAG	IGDCC3	-	NULL	ENSG00000174498		0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	66	0.00	0	C	NM_004884		65621781	65621781	-1	no_errors	ENST00000327987	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	G
IGDCC3	9543	genome.wustl.edu	37	15	65621781	65621781	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:65621781C>G	ENST00000327987.4	-	13	2403	c.2152G>C	c.(2152-2154)Gag>Cag	p.E718Q	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	718					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AACAGCTGCTCCAGCTCCTTC	0.642																																						dbGAP											0													66.0	79.0	75.0					15																	65621781		2198	4295	6493	-	-	-	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2152G>C	15.37:g.65621781C>G	ENSP00000332773:p.Glu718Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E718Q	ENST00000327987.4	37	c.2152	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.152652	0.94645	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.69926	-0.44	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.75155	0.3811	L	0.29908	0.895	0.54753	D	0.999983	D	0.89917	1.0	D	0.83275	0.996	T	0.76833	-0.2813	10	0.87932	D	0	-29.7493	18.5659	0.91116	0.0:1.0:0.0:0.0	.	718	Q8IVU1	IGDC3_HUMAN	Q	718;542	ENSP00000332773:E718Q	ENSP00000332773:E718Q	E	-	1	0	IGDCC3	63408834	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	6.468000	0.73551	2.825000	0.97269	0.655000	0.94253	GAG	IGDCC3	-	NULL	ENSG00000174498		0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	50	0.00	0	C	NM_004884		65621781	65621781	-1	no_errors	ENST00000327987	ensembl	human	known	69_37n	missense	38	17.39	8	SNP	1.000	G
IGKV3D-20	28874	genome.wustl.edu	37	2	90078267	90078267	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:90078267G>A	ENST00000390270.2	+	0	401									immunoglobulin kappa variable 3D-20																		ACTGGAGCCTGAAGATTTTGC	0.493																																						dbGAP											0													30.0	29.0	29.0					2																	90078267		1811	4043	5854	-	-	-			0			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E102K	ENST00000390270.2	37	c.304		2																																																																																			IGKV3D-20	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211625		0.493	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-20	HGNC	IG_V_gene	OTTHUMT00000323287.1	70	0.00	0	G	NG_000833		90078267	90078267	+1	no_stop_codon	ENST00000390270	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.999	A
IGKV3D-20	28874	genome.wustl.edu	37	2	90078267	90078267	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:90078267G>A	ENST00000390270.2	+	0	401									immunoglobulin kappa variable 3D-20																		ACTGGAGCCTGAAGATTTTGC	0.493																																						dbGAP											0													30.0	29.0	29.0					2																	90078267		1811	4043	5854	-	-	-			0			X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078267G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E102K	ENST00000390270.2	37	c.304		2																																																																																			IGKV3D-20	-	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211625		0.493	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGKV3D-20	HGNC	IG_V_gene	OTTHUMT00000323287.1	67	0.00	0	G	NG_000833		90078267	90078267	+1	no_stop_codon	ENST00000390270	ensembl	human	known	69_37n	missense	44	25.42	15	SNP	0.999	A
IL6	3569	genome.wustl.edu	37	7	22771136	22771136	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:22771136C>T	ENST00000404625.1	+	6	1042	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	IL6_ENST00000407492.1_Silent_p.L119L|IL6_ENST00000258743.5_Silent_p.L195L|IL6_ENST00000401630.3_Silent_p.L172L			P05231	IL6_HUMAN	interleukin 6	195					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	TCATCTCATTCTGCGCAGCTT	0.522																																					Esophageal Squamous(47;342 1214 13936 33513)	dbGAP											0													79.0	67.0	71.0					7																	22771136		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.583C>T	7.37:g.22771136C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCU2|Q9UCU3|Q9UCU4	Silent	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF	p.L195	ENST00000404625.1	37	c.583	CCDS5375.1	7																																																																																			IL6	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF	ENSG00000136244		0.522	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6	HGNC	protein_coding	OTTHUMT00000250225.2	32	0.00	0	C	NM_000600		22771136	22771136	+1	no_errors	ENST00000258743	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	0.912	T
IL6	3569	genome.wustl.edu	37	7	22771136	22771136	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:22771136C>T	ENST00000404625.1	+	6	1042	c.583C>T	c.(583-585)Ctg>Ttg	p.L195L	IL6_ENST00000407492.1_Silent_p.L119L|IL6_ENST00000258743.5_Silent_p.L195L|IL6_ENST00000401630.3_Silent_p.L172L			P05231	IL6_HUMAN	interleukin 6	195					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	TCATCTCATTCTGCGCAGCTT	0.522																																					Esophageal Squamous(47;342 1214 13936 33513)	dbGAP											0													79.0	67.0	71.0					7																	22771136		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.583C>T	7.37:g.22771136C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCU2|Q9UCU3|Q9UCU4	Silent	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF	p.L195	ENST00000404625.1	37	c.583	CCDS5375.1	7																																																																																			IL6	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core,smart_IL6_MGF_GCSF,pirsf_IL6_MGF_GCSF,prints_Interleukin_6,prints_IL6_MGF_GCSF	ENSG00000136244		0.522	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL6	HGNC	protein_coding	OTTHUMT00000250225.2	36	0.00	0	C	NM_000600		22771136	22771136	+1	no_errors	ENST00000258743	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	0.912	T
INO80	54617	genome.wustl.edu	37	15	41364197	41364197	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:41364197G>A	ENST00000361937.3	-	12	1879	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	INO80_ENST00000401393.3_Silent_p.N485N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	485	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCCAGACTTGTTTGCTGCCC	0.413																																						dbGAP											0													79.0	88.0	85.0					15																	41364197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1455C>T	15.37:g.41364197G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X4|Q9NTG6	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N485	ENST00000361937.3	37	c.1455	CCDS10071.1	15																																																																																			INO80	-	NULL	ENSG00000128908		0.413	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	40	0.00	0	G	NM_017553		41364197	41364197	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	1.000	A
INO80	54617	genome.wustl.edu	37	15	41364197	41364197	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:41364197G>A	ENST00000361937.3	-	12	1879	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	INO80_ENST00000401393.3_Silent_p.N485N			Q9ULG1	INO80_HUMAN	INO80 complex subunit	485	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGCCAGACTTGTTTGCTGCCC	0.413																																						dbGAP											0													79.0	88.0	85.0					15																	41364197		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.1455C>T	15.37:g.41364197G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8X4|Q9NTG6	Silent	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.N485	ENST00000361937.3	37	c.1455	CCDS10071.1	15																																																																																			INO80	-	NULL	ENSG00000128908		0.413	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	30	0.00	0	G	NM_017553		41364197	41364197	-1	no_errors	ENST00000361937	ensembl	human	known	69_37n	silent	28	26.32	10	SNP	1.000	A
INPP5J	27124	genome.wustl.edu	37	22	31524534	31524534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:31524534C>G	ENST00000331075.5	+	9	2136	c.2087C>G	c.(2086-2088)tCa>tGa	p.S696*	INPP5J_ENST00000412277.2_Nonsense_Mutation_p.S629*|INPP5J_ENST00000400294.2_Nonsense_Mutation_p.S329*|INPP5J_ENST00000404453.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000404390.3_Nonsense_Mutation_p.S328*|INPP5J_ENST00000402238.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000401755.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000405300.1_Nonsense_Mutation_p.S329*	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	696	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCAGCCCCTCAGGACGGAAG	0.612																																						dbGAP											0													49.0	58.0	55.0					22																	31524534		2066	4193	6259	-	-	-	SO:0001587	stop_gained	0			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2087C>G	22.37:g.31524534C>G	ENSP00000333262:p.Ser696*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S696*	ENST00000331075.5	37	c.2087		22	.	.	.	.	.	.	.	.	.	.	C	40	7.944521	0.98574	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	.	.	.	5.7	5.7	0.88788	.	0.366282	0.24930	N	0.034464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.7602	0.57359	0.0:0.9209:0.0:0.0791	.	.	.	.	X	696;629;329;329;328;61;61;61	.	ENSP00000333262:S696X	S	+	2	0	INPP5J	29854534	0.075000	0.21258	0.998000	0.56505	0.933000	0.57130	2.008000	0.40893	2.688000	0.91661	0.655000	0.94253	TCA	INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000185133		0.612	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	59	0.00	0	C	NM_001002837		31524534	31524534	+1	no_errors	ENST00000331075	ensembl	human	known	69_37n	nonsense	25	13.79	4	SNP	0.952	G
INPP5J	27124	genome.wustl.edu	37	22	31524534	31524534	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:31524534C>G	ENST00000331075.5	+	9	2136	c.2087C>G	c.(2086-2088)tCa>tGa	p.S696*	INPP5J_ENST00000412277.2_Nonsense_Mutation_p.S629*|INPP5J_ENST00000400294.2_Nonsense_Mutation_p.S329*|INPP5J_ENST00000404453.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000404390.3_Nonsense_Mutation_p.S328*|INPP5J_ENST00000402238.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000401755.1_Nonsense_Mutation_p.S61*|INPP5J_ENST00000405300.1_Nonsense_Mutation_p.S329*	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	696	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCAGCCCCTCAGGACGGAAG	0.612																																						dbGAP											0													49.0	58.0	55.0					22																	31524534		2066	4193	6259	-	-	-	SO:0001587	stop_gained	0			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.2087C>G	22.37:g.31524534C>G	ENSP00000333262:p.Ser696*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Nonsense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.S696*	ENST00000331075.5	37	c.2087		22	.	.	.	.	.	.	.	.	.	.	C	40	7.944521	0.98574	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390;ENST00000402238;ENST00000404453;ENST00000401755	.	.	.	5.7	5.7	0.88788	.	0.366282	0.24930	N	0.034464	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	12.7602	0.57359	0.0:0.9209:0.0:0.0791	.	.	.	.	X	696;629;329;329;328;61;61;61	.	ENSP00000333262:S696X	S	+	2	0	INPP5J	29854534	0.075000	0.21258	0.998000	0.56505	0.933000	0.57130	2.008000	0.40893	2.688000	0.91661	0.655000	0.94253	TCA	INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000185133		0.612	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	41	0.00	0	C	NM_001002837		31524534	31524534	+1	no_errors	ENST00000331075	ensembl	human	known	69_37n	nonsense	25	13.79	4	SNP	0.952	G
IPPK	64768	genome.wustl.edu	37	9	95397502	95397502	+	Missense_Mutation	SNP	G	G	C	rs200546991		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:95397502G>C	ENST00000287996.3	-	10	1281	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	IPPK_ENST00000375522.1_Missense_Mutation_p.I7M	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	335					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.I335I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AGAGGCCTTCGATGTCCAGCA	0.582											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											114.0	102.0	106.0					9																	95397502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1005C>G	9.37:g.95397502G>C	ENSP00000287996:p.Ile335Met	Somatic	1312	WXS	Illumina GAIIx	Phase_IV	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.I335M	ENST00000287996.3	37	c.1005	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411279	0.62399	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.62788	0.7;-0.0	4.66	0.72	0.18214	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.80332	2.49	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68845	-0.5301	10	0.66056	D	0.02	-20.2565	2.8711	0.05617	0.4692:0.0:0.3273:0.2035	.	335;34	Q9H8X2;B3KVX7	IPPK_HUMAN;.	M	335;7	ENSP00000287996:I335M;ENSP00000364672:I7M	ENSP00000287996:I335M	I	-	3	3	IPPK	94437323	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.076000	0.30729	0.263000	0.21812	-0.355000	0.07637	ATC	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.582	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	63	0.00	0	G	NM_022755		95397502	95397502	-1	no_errors	ENST00000287996	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	C
IPPK	64768	genome.wustl.edu	37	9	95397502	95397502	+	Missense_Mutation	SNP	G	G	C	rs200546991		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:95397502G>C	ENST00000287996.3	-	10	1281	c.1005C>G	c.(1003-1005)atC>atG	p.I335M	IPPK_ENST00000375522.1_Missense_Mutation_p.I7M	NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	335					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)	p.I335I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AGAGGCCTTCGATGTCCAGCA	0.582											OREG0019315	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											114.0	102.0	106.0					9																	95397502		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.1005C>G	9.37:g.95397502G>C	ENSP00000287996:p.Ile335Met	Somatic	1312	WXS	Illumina GAIIx	Phase_IV	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.I335M	ENST00000287996.3	37	c.1005	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	G	17.52	3.411279	0.62399	.	.	ENSG00000127080	ENST00000287996;ENST00000375522	T;T	0.62788	0.7;-0.0	4.66	0.72	0.18214	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.80332	2.49	0.52501	D	0.999952	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.68845	-0.5301	10	0.66056	D	0.02	-20.2565	2.8711	0.05617	0.4692:0.0:0.3273:0.2035	.	335;34	Q9H8X2;B3KVX7	IPPK_HUMAN;.	M	335;7	ENSP00000287996:I335M;ENSP00000364672:I7M	ENSP00000287996:I335M	I	-	3	3	IPPK	94437323	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.076000	0.30729	0.263000	0.21812	-0.355000	0.07637	ATC	IPPK	-	pfam_Ins_P5_2-kin	ENSG00000127080		0.582	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	58	0.00	0	G	NM_022755		95397502	95397502	-1	no_errors	ENST00000287996	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	C
IRAK3	11213	genome.wustl.edu	37	12	66641490	66641490	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:66641490G>A	ENST00000261233.4	+	12	1751	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	IRAK3_ENST00000457197.2_Missense_Mutation_p.E383K	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AAATACTCTTGAAAGTACTCA	0.338																																						dbGAP											0													81.0	75.0	77.0					12																	66641490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1330G>A	12.37:g.66641490G>A	ENSP00000261233:p.Glu444Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.E444K	ENST00000261233.4	37	c.1330	CCDS8975.1	12	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149817	0.57151	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.35421	1.31;1.31	5.77	5.77	0.91146	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.229484	0.41001	D	0.000968	T	0.45013	0.1321	L	0.37630	1.12	0.39673	D	0.970785	D;D	0.60575	0.988;0.979	P;P	0.57911	0.829;0.679	T	0.21518	-1.0243	9	.	.	.	-27.4895	15.4984	0.75677	0.0:0.0:1.0:0.0	.	383;444	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	K	444;383	ENSP00000261233:E444K;ENSP00000409852:E383K	.	E	+	1	0	IRAK3	64927757	1.000000	0.71417	0.561000	0.28357	0.041000	0.13682	3.353000	0.52247	2.724000	0.93272	0.561000	0.74099	GAA	IRAK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000090376		0.338	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	74	0.00	0	G			66641490	66641490	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	missense	41	31.67	19	SNP	0.898	A
IRF4	3662	genome.wustl.edu	37	6	401423	401423	+	Splice_Site	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:401423G>A	ENST00000380956.4	+	7	871		c.e7-1			NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4						cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGTGTTTGCAGACTGCCGGCT	0.607			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													39.0	36.0	37.0					6																	401423		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.746-1G>A	6.37:g.401423G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI7|Q99660	Splice_Site	SNP	-	e6-1	ENST00000380956.4	37	c.746-1	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750163	0.89753	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4657	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRF4	346423	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.414000	0.97362	2.579000	0.87056	0.563000	0.77884	.	IRF4	-	-	ENSG00000137265		0.607	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	19	0.00	0	G		Intron	401423	401423	+1	no_errors	ENST00000380956	ensembl	human	known	69_37n	splice_site	2	71.43	5	SNP	1.000	A
IRF4	3662	genome.wustl.edu	37	6	401423	401423	+	Splice_Site	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:401423G>A	ENST00000380956.4	+	7	871		c.e7-1			NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4						cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGTGTTTGCAGACTGCCGGCT	0.607			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p25-p23	3662	interferon regulatory factor 4		L	0													39.0	36.0	37.0					6																	401423		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.746-1G>A	6.37:g.401423G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI7|Q99660	Splice_Site	SNP	-	e6-1	ENST00000380956.4	37	c.746-1	CCDS4469.1	6	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750163	0.89753	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4657	0.94939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IRF4	346423	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.414000	0.97362	2.579000	0.87056	0.563000	0.77884	.	IRF4	-	-	ENSG00000137265		0.607	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF4	HGNC	protein_coding	OTTHUMT00000043638.1	19	0.00	0	G		Intron	401423	401423	+1	no_errors	ENST00000380956	ensembl	human	known	69_37n	splice_site	2	71.43	5	SNP	1.000	A
ITGB2	3689	genome.wustl.edu	37	21	46308808	46308808	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:46308808G>A	ENST00000397850.2	-	15	2332	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	ITGB2_ENST00000397852.1_Missense_Mutation_p.S627F|ITGB2_ENST00000397854.3_Missense_Mutation_p.S570F|ITGB2_ENST00000355153.4_Missense_Mutation_p.S627F|ITGB2_ENST00000397857.1_Missense_Mutation_p.S627F|ITGB2_ENST00000302347.5_Missense_Mutation_p.S627F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	627					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTCGGCGCAGGAGCTGCGGGG	0.692																																						dbGAP											0													18.0	20.0	19.0					21																	46308808		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1880C>T	21.37:g.46308808G>A	ENSP00000380948:p.Ser627Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.S627F	ENST00000397850.2	37	c.1880	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904092	0.17760	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.07	-1.6	0.08426	Integrin beta subunit, tail (2);	.	.	.	.	D	0.87446	0.6179	L	0.45137	1.4	0.47476	D	0.999434	B;B	0.23891	0.025;0.093	B;B	0.26416	0.053;0.069	T	0.75554	-0.3277	9	0.59425	D	0.04	.	4.0908	0.09968	0.3081:0.0:0.4396:0.2523	.	570;627	A8MYE6;P05107	.;ITB2_HUMAN	F	627;627;570;627;627;627	ENSP00000380950:S627F;ENSP00000380955:S627F;ENSP00000380952:S570F;ENSP00000347279:S627F;ENSP00000380948:S627F;ENSP00000303242:S627F	ENSP00000303242:S627F	S	-	2	0	ITGB2	45133236	0.829000	0.29322	0.818000	0.32626	0.033000	0.12548	-0.232000	0.09055	-0.327000	0.08551	-0.768000	0.03414	TCC	ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail	ENSG00000160255		0.692	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	63	0.00	0	G	NM_000211		46308808	46308808	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.967	A
ITGB2	3689	genome.wustl.edu	37	21	46308808	46308808	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:46308808G>A	ENST00000397850.2	-	15	2332	c.1880C>T	c.(1879-1881)tCc>tTc	p.S627F	ITGB2_ENST00000397852.1_Missense_Mutation_p.S627F|ITGB2_ENST00000397854.3_Missense_Mutation_p.S570F|ITGB2_ENST00000355153.4_Missense_Mutation_p.S627F|ITGB2_ENST00000397857.1_Missense_Mutation_p.S627F|ITGB2_ENST00000302347.5_Missense_Mutation_p.S627F			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	627					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTCGGCGCAGGAGCTGCGGGG	0.692																																						dbGAP											0													18.0	20.0	19.0					21																	46308808		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1880C>T	21.37:g.46308808G>A	ENSP00000380948:p.Ser627Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.S627F	ENST00000397850.2	37	c.1880	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	G	8.676	0.904092	0.17760	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.93307	-3.2;-3.2;-3.2;-3.2;-3.2;-3.2	5.07	-1.6	0.08426	Integrin beta subunit, tail (2);	.	.	.	.	D	0.87446	0.6179	L	0.45137	1.4	0.47476	D	0.999434	B;B	0.23891	0.025;0.093	B;B	0.26416	0.053;0.069	T	0.75554	-0.3277	9	0.59425	D	0.04	.	4.0908	0.09968	0.3081:0.0:0.4396:0.2523	.	570;627	A8MYE6;P05107	.;ITB2_HUMAN	F	627;627;570;627;627;627	ENSP00000380950:S627F;ENSP00000380955:S627F;ENSP00000380952:S570F;ENSP00000347279:S627F;ENSP00000380948:S627F;ENSP00000303242:S627F	ENSP00000303242:S627F	S	-	2	0	ITGB2	45133236	0.829000	0.29322	0.818000	0.32626	0.033000	0.12548	-0.232000	0.09055	-0.327000	0.08551	-0.768000	0.03414	TCC	ITGB2	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_tail,superfamily_Integrin_bsu_tail	ENSG00000160255		0.692	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	55	0.00	0	G	NM_000211		46308808	46308808	-1	no_errors	ENST00000302347	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.967	A
ITPR3	3710	genome.wustl.edu	37	6	33589434	33589434	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:33589434G>A	ENST00000374316.5	+	2	1115	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E19K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	19					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGTACGCCGAGGGCTCCGT	0.677																																						dbGAP											0													50.0	38.0	42.0					6																	33589434		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.55G>A	6.37:g.33589434G>A	ENSP00000363435:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E19K	ENST00000374316.5	37	c.55	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.877713	0.97055	.	.	ENSG00000096433	ENST00000374316	D	0.98649	-5.05	3.73	3.73	0.42828	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	D	0.000001	D	0.99058	0.9677	M	0.91717	3.235	0.58432	D	0.999991	D	0.89917	1.0	P	0.62298	0.9	D	0.99222	1.0879	10	0.87932	D	0	-28.1351	14.3041	0.66373	0.0:0.0:1.0:0.0	.	19	Q14573	ITPR3_HUMAN	K	19	ENSP00000363435:E19K	ENSP00000363435:E19K	E	+	1	0	ITPR3	33697412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.628000	0.90979	1.920000	0.55613	0.442000	0.29010	GAG	ITPR3	-	pfam_Ins145_P3_rcpt	ENSG00000096433		0.677	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	117	0.00	0	G	NM_002224		33589434	33589434	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	1.000	A
ITPR3	3710	genome.wustl.edu	37	6	33589434	33589434	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:33589434G>A	ENST00000374316.5	+	2	1115	c.55G>A	c.(55-57)Gag>Aag	p.E19K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E19K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	19					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCTGTACGCCGAGGGCTCCGT	0.677																																						dbGAP											0													50.0	38.0	42.0					6																	33589434		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.55G>A	6.37:g.33589434G>A	ENSP00000363435:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.E19K	ENST00000374316.5	37	c.55	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.877713	0.97055	.	.	ENSG00000096433	ENST00000374316	D	0.98649	-5.05	3.73	3.73	0.42828	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);	0.000000	0.64402	D	0.000001	D	0.99058	0.9677	M	0.91717	3.235	0.58432	D	0.999991	D	0.89917	1.0	P	0.62298	0.9	D	0.99222	1.0879	10	0.87932	D	0	-28.1351	14.3041	0.66373	0.0:0.0:1.0:0.0	.	19	Q14573	ITPR3_HUMAN	K	19	ENSP00000363435:E19K	ENSP00000363435:E19K	E	+	1	0	ITPR3	33697412	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.628000	0.90979	1.920000	0.55613	0.442000	0.29010	GAG	ITPR3	-	pfam_Ins145_P3_rcpt	ENSG00000096433		0.677	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	62	0.00	0	G	NM_002224		33589434	33589434	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	60	22.08	17	SNP	1.000	A
JUNB	3726	genome.wustl.edu	37	19	12903464	12903464	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:12903464C>T	ENST00000302754.4	+	1	1155	c.879C>T	c.(877-879)atC>atT	p.I293I		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	293	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGGAGCGCATCGCGCGCCTGG	0.657																																						dbGAP											0													12.0	13.0	13.0					19																	12903464		2161	4266	6427	-	-	-	SO:0001819	synonymous_variant	0			M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.879C>T	19.37:g.12903464C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96GH3	Silent	SNP	pfam_JNK,pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	p.I293	ENST00000302754.4	37	c.879	CCDS12280.1	19																																																																																			JUNB	-	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun	ENSG00000171223		0.657	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUNB	HGNC	protein_coding	OTTHUMT00000451015.1	60	0.00	0	C	NM_002229		12903464	12903464	+1	no_errors	ENST00000302754	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	1.000	T
KCNC3	3748	genome.wustl.edu	37	19	50831835	50831835	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:50831835C>G	ENST00000477616.1	-	1	799	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	KCNC3_ENST00000376959.2_Missense_Mutation_p.E169Q|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	169					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCGAGCTCCTCCTCAAACAGG	0.652																																					Melanoma(91;1496 2324 50908)	dbGAP											0													29.0	35.0	33.0					19																	50831835		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.505G>C	19.37:g.50831835C>G	ENSP00000434241:p.Glu169Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.E169Q	ENST00000477616.1	37	c.505	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	15.53	2.861550	0.51482	.	.	ENSG00000131398	ENST00000376959;ENST00000477616	T;T	0.76839	-1.05;-1.05	2.31	2.31	0.28768	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000016	T	0.81795	0.4898	M	0.64630	1.985	0.80722	D	1	P	0.50710	0.938	P	0.58013	0.831	T	0.82914	-0.0221	10	0.72032	D	0.01	.	10.3868	0.44145	0.0:1.0:0.0:0.0	.	169	Q14003	KCNC3_HUMAN	Q	169	ENSP00000366158:E169Q;ENSP00000434241:E169Q	ENSP00000366158:E169Q	E	-	1	0	KCNC3	55523647	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.640000	0.74319	1.327000	0.45338	0.177000	0.17058	GAG	KCNC3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3	ENSG00000131398		0.652	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	57	0.00	0	C	NM_004977		50831835	50831835	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	G
KCNC3	3748	genome.wustl.edu	37	19	50831835	50831835	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:50831835C>G	ENST00000477616.1	-	1	799	c.505G>C	c.(505-507)Gag>Cag	p.E169Q	KCNC3_ENST00000376959.2_Missense_Mutation_p.E169Q|NR1H2_ENST00000542413.1_5'Flank|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	169					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCGAGCTCCTCCTCAAACAGG	0.652																																					Melanoma(91;1496 2324 50908)	dbGAP											0													29.0	35.0	33.0					19																	50831835		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.505G>C	19.37:g.50831835C>G	ENSP00000434241:p.Glu169Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.E169Q	ENST00000477616.1	37	c.505	CCDS12793.1	19	.	.	.	.	.	.	.	.	.	.	c	15.53	2.861550	0.51482	.	.	ENSG00000131398	ENST00000376959;ENST00000477616	T;T	0.76839	-1.05;-1.05	2.31	2.31	0.28768	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.64402	U	0.000016	T	0.81795	0.4898	M	0.64630	1.985	0.80722	D	1	P	0.50710	0.938	P	0.58013	0.831	T	0.82914	-0.0221	10	0.72032	D	0.01	.	10.3868	0.44145	0.0:1.0:0.0:0.0	.	169	Q14003	KCNC3_HUMAN	Q	169	ENSP00000366158:E169Q;ENSP00000434241:E169Q	ENSP00000366158:E169Q	E	-	1	0	KCNC3	55523647	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.640000	0.74319	1.327000	0.45338	0.177000	0.17058	GAG	KCNC3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv3	ENSG00000131398		0.652	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	29	0.00	0	C	NM_004977		50831835	50831835	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	G
KCNH6	81033	genome.wustl.edu	37	17	61619699	61619699	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:61619699G>C	ENST00000583023.1	+	9	2063	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	KCNH6_ENST00000314672.5_Missense_Mutation_p.K684N|KCNH6_ENST00000581784.1_Missense_Mutation_p.K631N|KCNH6_ENST00000456941.2_Missense_Mutation_p.K631N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	684					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTGCACAAGATCCAGCGGG	0.597																																						dbGAP											0													104.0	87.0	93.0					17																	61619699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2052G>C	17.37:g.61619699G>C	ENSP00000463533:p.Lys684Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.K684N	ENST00000583023.1	37	c.2052	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244734	0.79912	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.96885	-4.16;-4.16	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.070349	0.53938	D	0.000055	D	0.98080	0.9367	M	0.89904	3.07	0.58432	D	0.999999	D;P;D;P	0.61080	0.989;0.952;0.987;0.941	P;P;D;P	0.65987	0.857;0.786;0.94;0.893	D	0.98528	1.0626	10	0.56958	D	0.05	.	13.1237	0.59342	0.0807:0.0:0.9193:0.0	.	561;684;631;684	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	N	684;631	ENSP00000318212:K684N;ENSP00000396900:K631N	ENSP00000318212:K684N	K	+	3	2	KCNH6	58973431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.794000	0.69067	2.148000	0.66965	0.467000	0.42956	AAG	KCNH6	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000173826		0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	69	0.00	0	G	NM_030779		61619699	61619699	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	C
KCNH6	81033	genome.wustl.edu	37	17	61619699	61619699	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:61619699G>C	ENST00000583023.1	+	9	2063	c.2052G>C	c.(2050-2052)aaG>aaC	p.K684N	KCNH6_ENST00000314672.5_Missense_Mutation_p.K684N|KCNH6_ENST00000581784.1_Missense_Mutation_p.K631N|KCNH6_ENST00000456941.2_Missense_Mutation_p.K631N	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	684					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACCTGCACAAGATCCAGCGGG	0.597																																						dbGAP											0													104.0	87.0	93.0					17																	61619699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2052G>C	17.37:g.61619699G>C	ENSP00000463533:p.Lys684Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BRD7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.K684N	ENST00000583023.1	37	c.2052	CCDS11638.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.244734	0.79912	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.96885	-4.16;-4.16	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.070349	0.53938	D	0.000055	D	0.98080	0.9367	M	0.89904	3.07	0.58432	D	0.999999	D;P;D;P	0.61080	0.989;0.952;0.987;0.941	P;P;D;P	0.65987	0.857;0.786;0.94;0.893	D	0.98528	1.0626	10	0.56958	D	0.05	.	13.1237	0.59342	0.0807:0.0:0.9193:0.0	.	561;684;631;684	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	N	684;631	ENSP00000318212:K684N;ENSP00000396900:K631N	ENSP00000318212:K684N	K	+	3	2	KCNH6	58973431	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.794000	0.69067	2.148000	0.66965	0.467000	0.42956	AAG	KCNH6	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000173826		0.597	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	44	0.00	0	G	NM_030779		61619699	61619699	+1	no_errors	ENST00000583023	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	C
KCNIP4	80333	genome.wustl.edu	37	4	20731719	20731719	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:20731719C>T	ENST00000382152.2	-	9	906	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	KCNIP4_ENST00000382148.3_Missense_Mutation_p.E222K|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E185K|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E213K|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E226K|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E185K	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	247	Interaction with KCND2. {ECO:0000250}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATCACATTTTCAAAGAGCTGC	0.378																																						dbGAP											0													126.0	119.0	121.0					4																	20731719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.739G>A	4.37:g.20731719C>T	ENSP00000371587:p.Glu247Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E226K	ENST00000382152.2	37	c.676	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.617650	0.96649	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73789	-0.71;-0.67;-0.72;-0.78;-0.65;-0.65	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.76328	2.33	0.80722	D	1	P;P;P;P	0.50819	0.939;0.939;0.939;0.897	P;P;P;P	0.53146	0.719;0.719;0.634;0.55	D	0.85310	0.1078	10	0.87932	D	0	.	19.2774	0.94038	0.0:1.0:0.0:0.0	.	222;226;230;247	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	K	222;213;226;185;247;185;185	ENSP00000371583:E222K;ENSP00000399080:E213K;ENSP00000371585:E226K;ENSP00000371587:E247K;ENSP00000423257:E185K;ENSP00000351892:E185K	ENSP00000351892:E185K	E	-	1	0	KCNIP4	20340817	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.727000	0.84838	2.550000	0.86006	0.585000	0.79938	GAA	KCNIP4	-	NULL	ENSG00000185774		0.378	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	HGNC	protein_coding	OTTHUMT00000360407.3	40	0.00	0	C	NM_025221		20731719	20731719	-1	no_errors	ENST00000382150	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	T
KCNIP4	80333	genome.wustl.edu	37	4	20731719	20731719	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:20731719C>T	ENST00000382152.2	-	9	906	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	KCNIP4_ENST00000382148.3_Missense_Mutation_p.E222K|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E185K|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E213K|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E226K|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E185K	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	247	Interaction with KCND2. {ECO:0000250}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATCACATTTTCAAAGAGCTGC	0.378																																						dbGAP											0													126.0	119.0	121.0					4																	20731719		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.739G>A	4.37:g.20731719C>T	ENSP00000371587:p.Glu247Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E226K	ENST00000382152.2	37	c.676	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.617650	0.96649	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.73789	-0.71;-0.67;-0.72;-0.78;-0.65;-0.65	5.45	5.45	0.79879	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.76328	2.33	0.80722	D	1	P;P;P;P	0.50819	0.939;0.939;0.939;0.897	P;P;P;P	0.53146	0.719;0.719;0.634;0.55	D	0.85310	0.1078	10	0.87932	D	0	.	19.2774	0.94038	0.0:1.0:0.0:0.0	.	222;226;230;247	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	K	222;213;226;185;247;185;185	ENSP00000371583:E222K;ENSP00000399080:E213K;ENSP00000371585:E226K;ENSP00000371587:E247K;ENSP00000423257:E185K;ENSP00000351892:E185K	ENSP00000351892:E185K	E	-	1	0	KCNIP4	20340817	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.727000	0.84838	2.550000	0.86006	0.585000	0.79938	GAA	KCNIP4	-	NULL	ENSG00000185774		0.378	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	HGNC	protein_coding	OTTHUMT00000360407.3	27	0.00	0	C	NM_025221		20731719	20731719	-1	no_errors	ENST00000382150	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	1.000	T
KCNJ2	3759	genome.wustl.edu	37	17	68171873	68171873	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:68171873C>T	ENST00000243457.3	+	2	1076	c.693C>T	c.(691-693)ctC>ctT	p.L231L	KCNJ2_ENST00000535240.1_Silent_p.L231L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	231					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GAGCACAGCTCCTCAAATCCA	0.468																																						dbGAP											0													97.0	94.0	95.0					17																	68171873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.693C>T	17.37:g.68171873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.L231	ENST00000243457.3	37	c.693	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	36	0.00	0	C	NM_000891		68171873	68171873	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.983	T
KCNJ2	3759	genome.wustl.edu	37	17	68171873	68171873	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:68171873C>T	ENST00000243457.3	+	2	1076	c.693C>T	c.(691-693)ctC>ctT	p.L231L	KCNJ2_ENST00000535240.1_Silent_p.L231L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	231					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GAGCACAGCTCCTCAAATCCA	0.468																																						dbGAP											0													97.0	94.0	95.0					17																	68171873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.693C>T	17.37:g.68171873C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O15110|P48049	Silent	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.1	p.L231	ENST00000243457.3	37	c.693	CCDS11688.1	17																																																																																			KCNJ2	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir	ENSG00000123700		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	28	0.00	0	C	NM_000891		68171873	68171873	+1	no_errors	ENST00000243457	ensembl	human	known	69_37n	silent	21	30.00	9	SNP	0.983	T
KDM5B	10765	genome.wustl.edu	37	1	202715442	202715442	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:202715442C>T	ENST00000367265.3	-	15	3190	c.2026G>A	c.(2026-2028)Gat>Aat	p.D676N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D712N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	676					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTTTCCGAATCAATCACTCCC	0.388																																						dbGAP											0													114.0	109.0	111.0					1																	202715442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2026G>A	1.37:g.202715442C>T	ENSP00000356234:p.Asp676Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D676N	ENST00000367265.3	37	c.2026	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480290	0.44044	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.85629	-1.9;-1.71;-2.01	6.17	6.17	0.99709	.	0.281132	0.45126	D	0.000399	T	0.72779	0.3503	N	0.08118	0	0.41211	D	0.986443	P;B	0.43352	0.804;0.006	B;B	0.39840	0.311;0.01	T	0.76798	-0.2826	10	0.48119	T	0.1	-28.7864	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	712;676	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	676;518;712;518;45	ENSP00000356234:D676N;ENSP00000356233:D712N;ENSP00000235790:D518N	ENSP00000235790:D518N	D	-	1	0	KDM5B	200982065	0.980000	0.34600	1.000000	0.80357	0.588000	0.36517	1.827000	0.39102	2.941000	0.99782	0.655000	0.94253	GAT	KDM5B	-	NULL	ENSG00000117139		0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	29	0.00	0	C	NM_006618		202715442	202715442	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.994	T
KDM5B	10765	genome.wustl.edu	37	1	202715442	202715442	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:202715442C>T	ENST00000367265.3	-	15	3190	c.2026G>A	c.(2026-2028)Gat>Aat	p.D676N	KDM5B_ENST00000367264.2_Missense_Mutation_p.D712N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	676					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTTTCCGAATCAATCACTCCC	0.388																																						dbGAP											0													114.0	109.0	111.0					1																	202715442		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2026G>A	1.37:g.202715442C>T	ENSP00000356234:p.Asp676Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.D676N	ENST00000367265.3	37	c.2026	CCDS30974.1	1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.480290	0.44044	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790;ENST00000543924	D;D;D	0.85629	-1.9;-1.71;-2.01	6.17	6.17	0.99709	.	0.281132	0.45126	D	0.000399	T	0.72779	0.3503	N	0.08118	0	0.41211	D	0.986443	P;B	0.43352	0.804;0.006	B;B	0.39840	0.311;0.01	T	0.76798	-0.2826	10	0.48119	T	0.1	-28.7864	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	712;676	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	N	676;518;712;518;45	ENSP00000356234:D676N;ENSP00000356233:D712N;ENSP00000235790:D518N	ENSP00000235790:D518N	D	-	1	0	KDM5B	200982065	0.980000	0.34600	1.000000	0.80357	0.588000	0.36517	1.827000	0.39102	2.941000	0.99782	0.655000	0.94253	GAT	KDM5B	-	NULL	ENSG00000117139		0.388	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	28	0.00	0	C	NM_006618		202715442	202715442	-1	no_errors	ENST00000367265	ensembl	human	known	69_37n	missense	28	17.65	6	SNP	0.994	T
KERA	11081	genome.wustl.edu	37	12	91449420	91449420	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:91449420G>A	ENST00000266719.3	-	2	886	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	213					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCATTGTATTGGCTGGTAATC	0.368																																						dbGAP											0													123.0	123.0	123.0					12																	91449420		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.639C>T	12.37:g.91449420G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A213	ENST00000266719.3	37	c.639	CCDS9037.1	12																																																																																			KERA	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	65	0.00	0	G	NM_007035		91449420	91449420	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	silent	41	28.07	16	SNP	1.000	A
KERA	11081	genome.wustl.edu	37	12	91449420	91449420	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:91449420G>A	ENST00000266719.3	-	2	886	c.639C>T	c.(637-639)gcC>gcT	p.A213A		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	213					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GCATTGTATTGGCTGGTAATC	0.368																																						dbGAP											0													123.0	123.0	123.0					12																	91449420		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.639C>T	12.37:g.91449420G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.A213	ENST00000266719.3	37	c.639	CCDS9037.1	12																																																																																			KERA	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000139330		0.368	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KERA	HGNC	protein_coding	OTTHUMT00000407149.2	64	0.00	0	G	NM_007035		91449420	91449420	-1	no_errors	ENST00000266719	ensembl	human	known	69_37n	silent	41	28.07	16	SNP	1.000	A
KIAA0020	9933	genome.wustl.edu	37	9	2837402	2837402	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:2837402C>G	ENST00000397885.2	-	3	289		c.e3-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAACCAGAATCTAGTGACAAT	0.318																																						dbGAP											1	Unknown(1)	cervix(1)											77.0	65.0	69.0					9																	2837402		1803	4069	5872	-	-	-	SO:0001630	splice_region_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.83-1G>C	9.37:g.2837402C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	-	e2-1	ENST00000397885.2	37	c.83-1	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595380	0.28445	.	.	ENSG00000080608	ENST00000397885	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6428	0.45602	0.0:0.9112:0.0:0.0888	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2827402	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	3.282000	0.51693	2.528000	0.85240	0.655000	0.94253	.	KIAA0020	-	-	ENSG00000080608		0.318	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	48	0.00	0	C	NM_014878	Intron	2837402	2837402	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	splice_site	33	22.73	10	SNP	1.000	G
KIAA0020	9933	genome.wustl.edu	37	9	2837402	2837402	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:2837402C>G	ENST00000397885.2	-	3	289		c.e3-1			NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAACCAGAATCTAGTGACAAT	0.318																																						dbGAP											1	Unknown(1)	cervix(1)											77.0	65.0	69.0					9																	2837402		1803	4069	5872	-	-	-	SO:0001630	splice_region_variant	0			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.83-1G>C	9.37:g.2837402C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Splice_Site	SNP	-	e2-1	ENST00000397885.2	37	c.83-1	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	C	11.29	1.595380	0.28445	.	.	ENSG00000080608	ENST00000397885	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6428	0.45602	0.0:0.9112:0.0:0.0888	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA0020	2827402	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	3.282000	0.51693	2.528000	0.85240	0.655000	0.94253	.	KIAA0020	-	-	ENSG00000080608		0.318	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	51	0.00	0	C	NM_014878	Intron	2837402	2837402	-1	no_errors	ENST00000397885	ensembl	human	known	69_37n	splice_site	33	22.73	10	SNP	1.000	G
AREL1	9870	genome.wustl.edu	37	14	75137503	75137503	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:75137503G>C	ENST00000356357.4	-	13	2085	c.1570C>G	c.(1570-1572)Cag>Gag	p.Q524E	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	524	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGAAGAGCTGATTGGTGGTA	0.448																																						dbGAP											0													100.0	98.0	98.0					14																	75137503		1901	4131	6032	-	-	-	SO:0001583	missense	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1570C>G	14.37:g.75137503G>C	ENSP00000348714:p.Gln524Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.Q524E	ENST00000356357.4	37	c.1570	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724324	0.48728	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.56611	0.45;0.45	5.87	5.87	0.94306	HECT (4);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	N	0.19112	0.55	0.80722	D	1	P;B	0.52577	0.954;0.127	D;B	0.65140	0.932;0.173	T	0.44329	-0.9335	10	0.09590	T	0.72	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	524;524	O15033-2;O15033	.;K0317_HUMAN	E	524;363;363	ENSP00000348714:Q524E;ENSP00000452101:Q363E	ENSP00000348714:Q524E	Q	-	1	0	KIAA0317	74207256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.603000	0.74145	2.785000	0.95823	0.655000	0.94253	CAG	KIAA0317	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000119682		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	52	0.00	0	G	NM_014821		75137503	75137503	-1	no_errors	ENST00000356357	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
AREL1	9870	genome.wustl.edu	37	14	75137503	75137503	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:75137503G>C	ENST00000356357.4	-	13	2085	c.1570C>G	c.(1570-1572)Cag>Gag	p.Q524E	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1	524	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GTGAAGAGCTGATTGGTGGTA	0.448																																						dbGAP											0													100.0	98.0	98.0					14																	75137503		1901	4131	6032	-	-	-	SO:0001583	missense	0			AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.1570C>G	14.37:g.75137503G>C	ENSP00000348714:p.Gln524Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E2C7|Q7LDY1|Q8IYY9	Missense_Mutation	SNP	pfam_HECT,pfam_Filamin/ABP280_repeat-like,superfamily_HECT,superfamily_Ig_E-set,smart_HECT,pfscan_Filamin/ABP280_repeat-like,pfscan_HECT	p.Q524E	ENST00000356357.4	37	c.1570	CCDS41971.1	14	.	.	.	.	.	.	.	.	.	.	G	15.07	2.724324	0.48728	.	.	ENSG00000119682	ENST00000356357;ENST00000543377;ENST00000556202	T;T	0.56611	0.45;0.45	5.87	5.87	0.94306	HECT (4);	0.000000	0.85682	D	0.000000	T	0.56746	0.2006	N	0.19112	0.55	0.80722	D	1	P;B	0.52577	0.954;0.127	D;B	0.65140	0.932;0.173	T	0.44329	-0.9335	10	0.09590	T	0.72	.	20.2181	0.98305	0.0:0.0:1.0:0.0	.	524;524	O15033-2;O15033	.;K0317_HUMAN	E	524;363;363	ENSP00000348714:Q524E;ENSP00000452101:Q363E	ENSP00000348714:Q524E	Q	-	1	0	KIAA0317	74207256	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.603000	0.74145	2.785000	0.95823	0.655000	0.94253	CAG	KIAA0317	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000119682		0.448	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0317	HGNC	protein_coding	OTTHUMT00000335517.2	68	0.00	0	G	NM_014821		75137503	75137503	-1	no_errors	ENST00000356357	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
ICE1	23379	genome.wustl.edu	37	5	5461881	5461881	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:5461881G>A	ENST00000296564.7	+	13	2656	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		812					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCAGAACATGAACAGAAGAC	0.398																																						dbGAP											0													75.0	68.0	70.0					5																	5461881		1915	4140	6055	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.2434G>A	5.37:g.5461881G>A	ENSP00000296564:p.Glu812Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E812K	ENST00000296564.7	37	c.2434	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339713	0.41398	.	.	ENSG00000164151	ENST00000296564	T	0.13307	2.6	4.69	2.81	0.32909	.	0.679550	0.14517	N	0.314727	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	1	P	0.40180	0.705	B	0.40864	0.342	T	0.15549	-1.0433	10	0.37606	T	0.19	-8.9379	10.9497	0.47321	0.0:0.3864:0.6136:0.0	.	812	Q9Y2F5	K0947_HUMAN	K	812	ENSP00000296564:E812K	ENSP00000296564:E812K	E	+	1	0	KIAA0947	5514881	0.001000	0.12720	0.001000	0.08648	0.125000	0.20455	0.652000	0.24888	0.346000	0.23899	0.460000	0.39030	GAA	KIAA0947	-	NULL	ENSG00000164151		0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	33	0.00	0	G			5461881	5461881	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.016	A
ICE1	23379	genome.wustl.edu	37	5	5461881	5461881	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:5461881G>A	ENST00000296564.7	+	13	2656	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		812					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATCAGAACATGAACAGAAGAC	0.398																																						dbGAP											0													75.0	68.0	70.0					5																	5461881		1915	4140	6055	-	-	-	SO:0001583	missense	0																														ENST00000296564.7:c.2434G>A	5.37:g.5461881G>A	ENSP00000296564:p.Glu812Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Missense_Mutation	SNP	superfamily_Vitellinogen_superhlx	p.E812K	ENST00000296564.7	37	c.2434	CCDS47187.1	5	.	.	.	.	.	.	.	.	.	.	G	13.78	2.339713	0.41398	.	.	ENSG00000164151	ENST00000296564	T	0.13307	2.6	4.69	2.81	0.32909	.	0.679550	0.14517	N	0.314727	T	0.11367	0.0277	L	0.27053	0.805	0.09310	N	1	P	0.40180	0.705	B	0.40864	0.342	T	0.15549	-1.0433	10	0.37606	T	0.19	-8.9379	10.9497	0.47321	0.0:0.3864:0.6136:0.0	.	812	Q9Y2F5	K0947_HUMAN	K	812	ENSP00000296564:E812K	ENSP00000296564:E812K	E	+	1	0	KIAA0947	5514881	0.001000	0.12720	0.001000	0.08648	0.125000	0.20455	0.652000	0.24888	0.346000	0.23899	0.460000	0.39030	GAA	KIAA0947	-	NULL	ENSG00000164151		0.398	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	33	0.00	0	G			5461881	5461881	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	missense	29	17.14	6	SNP	0.016	A
ICE1	23379	genome.wustl.edu	37	5	5462876	5462876	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:5462876G>A	ENST00000296564.7	+	13	3651	c.3429G>A	c.(3427-3429)gtG>gtA	p.V1143V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1143					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAGCCGAGGTGAGACCTTCCT	0.453																																						dbGAP											0													73.0	71.0	72.0					5																	5462876		1976	4174	6150	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000296564.7:c.3429G>A	5.37:g.5462876G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.V1143	ENST00000296564.7	37	c.3429	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	44	0.00	0	G			5462876	5462876	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	0.000	A
ICE1	23379	genome.wustl.edu	37	5	5462876	5462876	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:5462876G>A	ENST00000296564.7	+	13	3651	c.3429G>A	c.(3427-3429)gtG>gtA	p.V1143V		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1143					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAGCCGAGGTGAGACCTTCCT	0.453																																						dbGAP											0													73.0	71.0	72.0					5																	5462876		1976	4174	6150	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000296564.7:c.3429G>A	5.37:g.5462876G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Silent	SNP	superfamily_Vitellinogen_superhlx	p.V1143	ENST00000296564.7	37	c.3429	CCDS47187.1	5																																																																																			KIAA0947	-	NULL	ENSG00000164151		0.453	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0947	HGNC	protein_coding	OTTHUMT00000365575.1	45	0.00	0	G			5462876	5462876	+1	no_errors	ENST00000296564	ensembl	human	known	69_37n	silent	32	28.89	13	SNP	0.000	A
KIAA0825	285600	genome.wustl.edu	37	5	93856326	93856326	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:93856326G>C	ENST00000329378.7	-	5	846	c.597C>G	c.(595-597)ctC>ctG	p.L199L	KIAA0825_ENST00000513200.3_Silent_p.L199L|KIAA0825_ENST00000312498.7_Silent_p.L199L|KIAA0825_ENST00000427991.2_Silent_p.L199L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	199										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAAGAAACAAGAGTTGTTGTA	0.323																																						dbGAP											0													113.0	119.0	117.0					5																	93856326		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.597C>G	5.37:g.93856326G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Silent	SNP	NULL	p.L199	ENST00000329378.7	37	c.597	CCDS4070.1	5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.323	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	31	0.00	0	G	NM_173665		93856326	93856326	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	0.983	C
KIAA0825	285600	genome.wustl.edu	37	5	93856326	93856326	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:93856326G>C	ENST00000329378.7	-	5	846	c.597C>G	c.(595-597)ctC>ctG	p.L199L	KIAA0825_ENST00000513200.3_Silent_p.L199L|KIAA0825_ENST00000312498.7_Silent_p.L199L|KIAA0825_ENST00000427991.2_Silent_p.L199L	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	199										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AAAGAAACAAGAGTTGTTGTA	0.323																																						dbGAP											0													113.0	119.0	117.0					5																	93856326		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.597C>G	5.37:g.93856326G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Silent	SNP	NULL	p.L199	ENST00000329378.7	37	c.597	CCDS4070.1	5																																																																																			KIAA0825	-	NULL	ENSG00000185261		0.323	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000371180.2	36	0.00	0	G	NM_173665		93856326	93856326	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	0.983	C
KIAA1671	85379	genome.wustl.edu	37	22	25428581	25428581	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:25428581C>T	ENST00000406486.4	+	5	1934	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	KIAA1671_ENST00000358431.3_Missense_Mutation_p.S516L			Q9BY89	K1671_HUMAN	KIAA1671	516										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						ACCAGGTTTTCAAGTTCAGCT	0.507																																						dbGAP											0													2.0	2.0	2.0					22																	25428581		70	616	686	-	-	-	SO:0001583	missense	0				CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.1547C>T	22.37:g.25428581C>T	ENSP00000385152:p.Ser516Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYF2|B7ZW08|Q5THZ5	Missense_Mutation	SNP	NULL	p.S516L	ENST00000406486.4	37	c.1547	CCDS46676.1	22	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682336	0.88542	.	.	ENSG00000197077	ENST00000406486;ENST00000358431	.	.	.	4.98	4.98	0.66077	.	0.000000	0.44902	D	0.000414	T	0.61299	0.2336	L	0.32530	0.975	0.34133	D	0.665474	D	0.67145	0.996	D	0.66847	0.947	T	0.71925	-0.4445	9	0.66056	D	0.02	.	15.3387	0.74280	0.0:1.0:0.0:0.0	.	516	Q9BY89	K1671_HUMAN	L	516	.	ENSP00000351207:S516L	S	+	2	0	KIAA1671	23758581	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	4.120000	0.57897	2.484000	0.83849	0.484000	0.47621	TCA	KIAA1671	-	NULL	ENSG00000197077		0.507	KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1671	HGNC	protein_coding	OTTHUMT00000320306.6	16	0.00	0	C	NM_001145206		25428581	25428581	+1	no_errors	ENST00000358431	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.994	T
KIAA1671	85379	genome.wustl.edu	37	22	25428581	25428581	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:25428581C>T	ENST00000406486.4	+	5	1934	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	KIAA1671_ENST00000358431.3_Missense_Mutation_p.S516L			Q9BY89	K1671_HUMAN	KIAA1671	516										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						ACCAGGTTTTCAAGTTCAGCT	0.507																																						dbGAP											0													2.0	2.0	2.0					22																	25428581		70	616	686	-	-	-	SO:0001583	missense	0				CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.1547C>T	22.37:g.25428581C>T	ENSP00000385152:p.Ser516Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0QYF2|B7ZW08|Q5THZ5	Missense_Mutation	SNP	NULL	p.S516L	ENST00000406486.4	37	c.1547	CCDS46676.1	22	.	.	.	.	.	.	.	.	.	.	C	25.9	4.682336	0.88542	.	.	ENSG00000197077	ENST00000406486;ENST00000358431	.	.	.	4.98	4.98	0.66077	.	0.000000	0.44902	D	0.000414	T	0.61299	0.2336	L	0.32530	0.975	0.34133	D	0.665474	D	0.67145	0.996	D	0.66847	0.947	T	0.71925	-0.4445	9	0.66056	D	0.02	.	15.3387	0.74280	0.0:1.0:0.0:0.0	.	516	Q9BY89	K1671_HUMAN	L	516	.	ENSP00000351207:S516L	S	+	2	0	KIAA1671	23758581	1.000000	0.71417	0.962000	0.40283	0.898000	0.52572	4.120000	0.57897	2.484000	0.83849	0.484000	0.47621	TCA	KIAA1671	-	NULL	ENSG00000197077		0.507	KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1671	HGNC	protein_coding	OTTHUMT00000320306.6	14	0.00	0	C	NM_001145206		25428581	25428581	+1	no_errors	ENST00000358431	ensembl	human	known	69_37n	missense	7	36.36	4	SNP	0.994	T
KIFC3	3801	genome.wustl.edu	37	16	57805265	57805265	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:57805265C>G	ENST00000379655.4	-	6	867	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.E102Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.E65Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.E204Q|KIFC3_ENST00000539578.1_Missense_Mutation_p.E146Q|KIFC3_ENST00000541240.1_Missense_Mutation_p.E226Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.E65Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.E65Q|KIFC3_ENST00000465878.2_Missense_Mutation_p.E65Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	204					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCTGCACCTCTAGGTTCAGC	0.627																																						dbGAP											0													126.0	117.0	120.0					16																	57805265		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.610G>C	16.37:g.57805265C>G	ENSP00000368976:p.Glu204Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E204Q	ENST00000379655.4	37	c.610	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667158	0.67814	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.76578	-0.92;-0.94;-0.97;-0.95;-0.91;-1.03;-0.89	5.35	5.35	0.76521	.	0.107759	0.64402	D	0.000009	T	0.72061	0.3414	L	0.40543	1.245	0.51482	D	0.999927	P;P;P;P;P;P	0.49090	0.726;0.693;0.567;0.919;0.726;0.647	B;B;B;B;B;B	0.42625	0.186;0.219;0.1;0.393;0.186;0.131	T	0.70761	-0.4784	10	0.26408	T	0.33	.	17.6558	0.88177	0.0:1.0:0.0:0.0	.	226;146;65;102;204;65	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	Q	204;204;65;226;102;65;146	ENSP00000368976:E204Q;ENSP00000401696:E204Q;ENSP00000396399:E65Q;ENSP00000442008:E226Q;ENSP00000438805:E102Q;ENSP00000444012:E65Q;ENSP00000444884:E146Q	ENSP00000368976:E204Q	E	-	1	0	KIFC3	56362766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.725000	0.47294	2.529000	0.85273	0.655000	0.94253	GAG	KIFC3	-	NULL	ENSG00000140859		0.627	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	52	0.00	0	C	NM_005550		57805265	57805265	-1	no_errors	ENST00000379655	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	G
KIFC3	3801	genome.wustl.edu	37	16	57805265	57805265	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:57805265C>G	ENST00000379655.4	-	6	867	c.610G>C	c.(610-612)Gag>Cag	p.E204Q	KIFC3_ENST00000566975.1_5'Flank|KIFC3_ENST00000540079.2_Missense_Mutation_p.E102Q|KIFC3_ENST00000421376.2_Missense_Mutation_p.E65Q|KIFC3_ENST00000445690.2_Missense_Mutation_p.E204Q|KIFC3_ENST00000539578.1_Missense_Mutation_p.E146Q|KIFC3_ENST00000541240.1_Missense_Mutation_p.E226Q|KIFC3_ENST00000543930.1_Missense_Mutation_p.E65Q|KIFC3_ENST00000562903.1_Missense_Mutation_p.E65Q|KIFC3_ENST00000465878.2_Missense_Mutation_p.E65Q	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	204					ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TGCTGCACCTCTAGGTTCAGC	0.627																																						dbGAP											0													126.0	117.0	120.0					16																	57805265		2198	4300	6498	-	-	-	SO:0001583	missense	0			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.610G>C	16.37:g.57805265C>G	ENSP00000368976:p.Glu204Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E204Q	ENST00000379655.4	37	c.610	CCDS10789.2	16	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667158	0.67814	.	.	ENSG00000140859	ENST00000379655;ENST00000445690;ENST00000421376;ENST00000541240;ENST00000540079;ENST00000543930;ENST00000539578	T;T;T;T;T;T;T	0.76578	-0.92;-0.94;-0.97;-0.95;-0.91;-1.03;-0.89	5.35	5.35	0.76521	.	0.107759	0.64402	D	0.000009	T	0.72061	0.3414	L	0.40543	1.245	0.51482	D	0.999927	P;P;P;P;P;P	0.49090	0.726;0.693;0.567;0.919;0.726;0.647	B;B;B;B;B;B	0.42625	0.186;0.219;0.1;0.393;0.186;0.131	T	0.70761	-0.4784	10	0.26408	T	0.33	.	17.6558	0.88177	0.0:1.0:0.0:0.0	.	226;146;65;102;204;65	B7Z484;F5H4I9;B7Z896;F5H3M2;Q9BVG8;A8K6S2	.;.;.;.;KIFC3_HUMAN;.	Q	204;204;65;226;102;65;146	ENSP00000368976:E204Q;ENSP00000401696:E204Q;ENSP00000396399:E65Q;ENSP00000442008:E226Q;ENSP00000438805:E102Q;ENSP00000444012:E65Q;ENSP00000444884:E146Q	ENSP00000368976:E204Q	E	-	1	0	KIFC3	56362766	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.725000	0.47294	2.529000	0.85273	0.655000	0.94253	GAG	KIFC3	-	NULL	ENSG00000140859		0.627	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	52	0.00	0	C	NM_005550		57805265	57805265	-1	no_errors	ENST00000379655	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	G
KIRREL	55243	genome.wustl.edu	37	1	158063196	158063196	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:158063196C>T	ENST00000359209.6	+	12	1606	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	KIRREL_ENST00000368172.1_Silent_p.F327F|KIRREL_ENST00000368173.3_Silent_p.F529F|KIRREL_ENST00000416935.2_Silent_p.F413F|KIRREL_ENST00000360089.4_Silent_p.F349F|KIRREL_ENST00000392272.2_Silent_p.F410F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	513					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTTCTTCTTCATCGCCTTGG	0.597																																						dbGAP											0													195.0	189.0	191.0					1																	158063196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1539C>T	1.37:g.158063196C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F529	ENST00000359209.6	37	c.1587	CCDS1172.2	1																																																																																			KIRREL	-	NULL	ENSG00000183853		0.597	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	77	0.00	0	C	NM_018240		158063196	158063196	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	silent	43	12.24	6	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158063196	158063196	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:158063196C>T	ENST00000359209.6	+	12	1606	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	KIRREL_ENST00000368172.1_Silent_p.F327F|KIRREL_ENST00000368173.3_Silent_p.F529F|KIRREL_ENST00000416935.2_Silent_p.F413F|KIRREL_ENST00000360089.4_Silent_p.F349F|KIRREL_ENST00000392272.2_Silent_p.F410F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	513					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TCTTCTTCTTCATCGCCTTGG	0.597																																						dbGAP											0													195.0	189.0	191.0					1																	158063196		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.1539C>T	1.37:g.158063196C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F529	ENST00000359209.6	37	c.1587	CCDS1172.2	1																																																																																			KIRREL	-	NULL	ENSG00000183853		0.597	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	HGNC	protein_coding	OTTHUMT00000058342.3	63	0.00	0	C	NM_018240		158063196	158063196	+1	no_errors	ENST00000368173	ensembl	human	known	69_37n	silent	43	12.24	6	SNP	1.000	T
CYP4V2	285440	genome.wustl.edu	37	4	187130353	187130353	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:187130353C>T	ENST00000378802.4	+	10	1636	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	444					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTGAGCGGTTCTTCCCCGAGA	0.522																																						dbGAP											0													121.0	108.0	112.0					4																	187130353		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1332C>T	4.37:g.187130353C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U6W2|Q6ZTM4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Cyt_P450,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Cyt_P450,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.S43F	ENST00000378802.4	37	c.128	CCDS34119.1	4	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233425	0.09969	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.39	4.55	0.56014	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61103	-0.7130	4	.	.	.	.	11.1173	0.48268	0.0:0.8531:0.0:0.1469	.	.	.	.	F	43	.	.	S	+	2	0	KLKB1	187367347	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	0.971000	0.29396	1.513000	0.48852	0.655000	0.94253	TCT	KLKB1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000164344		0.522	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000360398.1	49	0.00	0	C	XM_209612		187130353	187130353	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511608	ensembl	human	putative	69_37n	missense	12	36.84	7	SNP	1.000	T
CYP4V2	285440	genome.wustl.edu	37	4	187130353	187130353	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:187130353C>T	ENST00000378802.4	+	10	1636	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	444					fatty acid omega-oxidation (GO:0010430)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CTGAGCGGTTCTTCCCCGAGA	0.522																																						dbGAP											0													121.0	108.0	112.0					4																	187130353		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022114	CCDS34119.1	4q35.2	2004-07-05			ENSG00000145476	ENSG00000145476		"""Cytochrome P450s"""	23198	protein-coding gene	gene with protein product		608614				15042513	Standard	NM_207352		Approved	CYP4AH1	uc003iyw.4	Q6ZWL3	OTTHUMG00000160379	ENST00000378802.4:c.1332C>T	4.37:g.187130353C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7U6W2|Q6ZTM4	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Cyt_P450,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Cyt_P450,smart_Apple,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Peptidase_S1_S6,prints_Apple,prints_Peptidase_S1A,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.S43F	ENST00000378802.4	37	c.128	CCDS34119.1	4	.	.	.	.	.	.	.	.	.	.	C	5.260	0.233425	0.09969	.	.	ENSG00000164344	ENST00000511608	.	.	.	5.39	4.55	0.56014	.	.	.	.	.	T	0.62466	0.2430	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61103	-0.7130	4	.	.	.	.	11.1173	0.48268	0.0:0.8531:0.0:0.1469	.	.	.	.	F	43	.	.	S	+	2	0	KLKB1	187367347	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	0.971000	0.29396	1.513000	0.48852	0.655000	0.94253	TCT	KLKB1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	ENSG00000164344		0.522	CYP4V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000360398.1	52	0.00	0	C	XM_209612		187130353	187130353	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000511608	ensembl	human	putative	69_37n	missense	12	36.84	7	SNP	1.000	T
KRT16P3	644945	genome.wustl.edu	37	17	20404891	20404891	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:20404891G>A	ENST00000580113.1	-	0	1012									keratin 16 pseudogene 3																		AGACAGCTGGGAACTGCACTG	0.567																																						dbGAP											0																																										-	-	-			0			BC110641		17p11.2	2014-06-12			ENSG00000214822	ENSG00000214822			37808	pseudogene	pseudogene			"""cytokeratin, Smith Magenis syndrome chromosome region"""	KERSMCR			Standard	NR_029393		Approved	MGC102966	uc002gxb.3		OTTHUMG00000130724		17.37:g.20404891G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000580113.1	37	NULL		17																																																																																			KRT16P3	-	-	ENSG00000214822		0.567	KRT16P3-004	KNOWN	basic	processed_transcript	KRT16P3	HGNC	pseudogene	OTTHUMT00000443764.1	46	0.00	0	G	NR_029393		20404891	20404891	-1	no_errors	ENST00000580621	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	0.029	A
KRT86	3892	genome.wustl.edu	37	12	52698793	52698793	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:52698793G>C	ENST00000423955.2	+	6	895	c.717G>C	c.(715-717)ctG>ctC	p.L239L	KRT86_ENST00000544024.1_Silent_p.L239L|KRT86_ENST00000293525.5_Silent_p.L239L|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	239	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGACTTCCTGAGGCGGCTGT	0.617																																						dbGAP											0													92.0	100.0	97.0					12																	52698793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.717G>C	12.37:g.52698793G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P78387	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L239	ENST00000423955.2	37	c.717	CCDS41785.1	12																																																																																			AC021066.1	-	pfam_F,superfamily_Prefoldin	ENSG00000170442		0.617	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	92	0.00	0	G	NM_002284		52698793	52698793	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	silent	51	21.54	14	SNP	0.928	C
KRT86	3892	genome.wustl.edu	37	12	52698793	52698793	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:52698793G>C	ENST00000423955.2	+	6	895	c.717G>C	c.(715-717)ctG>ctC	p.L239L	KRT86_ENST00000544024.1_Silent_p.L239L|KRT86_ENST00000293525.5_Silent_p.L239L|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86	239	Coil 1B.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGACTTCCTGAGGCGGCTGT	0.617																																						dbGAP											0													92.0	100.0	97.0					12																	52698793		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.717G>C	12.37:g.52698793G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	P78387	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.L239	ENST00000423955.2	37	c.717	CCDS41785.1	12																																																																																			AC021066.1	-	pfam_F,superfamily_Prefoldin	ENSG00000170442		0.617	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	71	0.00	0	G	NM_002284		52698793	52698793	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	silent	51	21.54	14	SNP	0.928	C
KRT86	3892	genome.wustl.edu	37	12	52699843	52699843	+	Splice_Site	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:52699843G>C	ENST00000423955.2	+	9	1204		c.e9-1		KRT86_ENST00000544024.1_Splice_Site|KRT86_ENST00000293525.5_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCTCTTCAGAATTCCAAGC	0.602											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													36.0	41.0	39.0					12																	52699843		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1027-1G>C	12.37:g.52699843G>C		Somatic	987	WXS	Illumina GAIIx	Phase_IV	P78387	Splice_Site	SNP	-	e7-1	ENST00000423955.2	37	c.1027-1	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	g	12.22	1.871596	0.33069	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0337	0.86468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50986110	1.000000	0.71417	0.996000	0.52242	0.130000	0.20726	7.773000	0.85462	2.467000	0.83353	0.555000	0.69702	.	AC021066.1	-	-	ENSG00000170442		0.602	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	61	0.00	0	G	NM_002284	Intron	52699843	52699843	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	splice_site	34	22.73	10	SNP	1.000	C
KRT86	3892	genome.wustl.edu	37	12	52699843	52699843	+	Splice_Site	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:52699843G>C	ENST00000423955.2	+	9	1204		c.e9-1		KRT86_ENST00000544024.1_Splice_Site|KRT86_ENST00000293525.5_Splice_Site|RP11-845M18.6_ENST00000552441.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GTTCTCTTCAGAATTCCAAGC	0.602											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													36.0	41.0	39.0					12																	52699843		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1027-1G>C	12.37:g.52699843G>C		Somatic	987	WXS	Illumina GAIIx	Phase_IV	P78387	Splice_Site	SNP	-	e7-1	ENST00000423955.2	37	c.1027-1	CCDS41785.1	12	.	.	.	.	.	.	.	.	.	.	g	12.22	1.871596	0.33069	.	.	ENSG00000170442;ENSG00000170442;ENSG00000170442;ENSG00000258832	ENST00000544024;ENST00000423955;ENST00000293525;ENST00000553310	.	.	.	5.25	5.25	0.73442	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0337	0.86468	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AC021066.1;KRT86	50986110	1.000000	0.71417	0.996000	0.52242	0.130000	0.20726	7.773000	0.85462	2.467000	0.83353	0.555000	0.69702	.	AC021066.1	-	-	ENSG00000170442		0.602	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT86	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000404911.1	49	0.00	0	G	NM_002284	Intron	52699843	52699843	+1	no_errors	ENST00000293525	ensembl	human	known	69_37n	splice_site	34	22.73	10	SNP	1.000	C
KRT18	3875	genome.wustl.edu	37	12	53345518	53345518	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:53345518G>C	ENST00000388835.3	+	5	1036	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E276Q|KRT18_ENST00000550600.1_Missense_Mutation_p.E276Q|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000549198.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	276	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCTGCAGATTGAGGAGAGCAC	0.602																																						dbGAP											0													84.0	89.0	87.0					12																	53345518		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.826G>C	12.37:g.53345518G>C	ENSP00000373487:p.Glu276Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E276Q	ENST00000388835.3	37	c.826	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580560	0.65992	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90069	-2.61;-2.61;-2.61	3.79	3.79	0.43588	Filament (1);	0.097739	0.42053	D	0.000764	D	0.93281	0.7859	M	0.84082	2.675	0.36474	D	0.867427	P;B	0.47191	0.891;0.155	P;B	0.57720	0.826;0.392	D	0.95716	0.8762	10	0.72032	D	0.01	.	13.9277	0.63972	0.0:0.0:1.0:0.0	.	276;276	F8VZY9;P05783	.;K1C18_HUMAN	Q	276	ENSP00000373489:E276Q;ENSP00000447278:E276Q;ENSP00000373487:E276Q	ENSP00000373487:E276Q	E	+	1	0	KRT18	51631785	0.031000	0.19500	1.000000	0.80357	0.792000	0.44763	1.645000	0.37238	2.418000	0.82041	0.491000	0.48974	GAG	KRT18	-	pfam_F	ENSG00000111057		0.602	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	55	0.00	0	G	NM_199187		53345518	53345518	+1	no_errors	ENST00000388835	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	C
KRT18	3875	genome.wustl.edu	37	12	53345518	53345518	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:53345518G>C	ENST00000388835.3	+	5	1036	c.826G>C	c.(826-828)Gag>Cag	p.E276Q	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.E276Q|KRT18_ENST00000550600.1_Missense_Mutation_p.E276Q|AC107016.2_ENST00000581256.1_RNA|KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000549198.1_5'Flank	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	276	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CCTGCAGATTGAGGAGAGCAC	0.602																																						dbGAP											0													84.0	89.0	87.0					12																	53345518		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.826G>C	12.37:g.53345518G>C	ENSP00000373487:p.Glu276Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	pfam_F,prints_Keratin_I	p.E276Q	ENST00000388835.3	37	c.826	CCDS31809.1	12	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580560	0.65992	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.90069	-2.61;-2.61;-2.61	3.79	3.79	0.43588	Filament (1);	0.097739	0.42053	D	0.000764	D	0.93281	0.7859	M	0.84082	2.675	0.36474	D	0.867427	P;B	0.47191	0.891;0.155	P;B	0.57720	0.826;0.392	D	0.95716	0.8762	10	0.72032	D	0.01	.	13.9277	0.63972	0.0:0.0:1.0:0.0	.	276;276	F8VZY9;P05783	.;K1C18_HUMAN	Q	276	ENSP00000373489:E276Q;ENSP00000447278:E276Q;ENSP00000373487:E276Q	ENSP00000373487:E276Q	E	+	1	0	KRT18	51631785	0.031000	0.19500	1.000000	0.80357	0.792000	0.44763	1.645000	0.37238	2.418000	0.82041	0.491000	0.48974	GAG	KRT18	-	pfam_F	ENSG00000111057		0.602	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT18	HGNC	protein_coding	OTTHUMT00000406405.1	47	0.00	0	G	NM_199187		53345518	53345518	+1	no_errors	ENST00000388835	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	C
KRTAP27-1	643812	genome.wustl.edu	37	21	31709472	31709472	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:31709472G>A	ENST00000382835.2	-	1	540	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	172						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AGGTCTACAGGAACTGGATTC	0.468																																						dbGAP											0													116.0	111.0	113.0					21																	31709472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.515C>T	21.37:g.31709472G>A	ENSP00000372286:p.Ser172Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMG	p.S172F	ENST00000382835.2	37	c.515	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891518	0.52014	.	.	ENSG00000206107	ENST00000382835	T	0.02837	4.14	4.44	3.54	0.40534	.	1.420810	0.04760	N	0.426157	T	0.14399	0.0348	M	0.65975	2.015	0.36193	D	0.850215	D	0.76494	0.999	D	0.70487	0.969	T	0.00475	-1.1717	10	0.59425	D	0.04	-0.0964	10.4884	0.44735	0.0:0.1967:0.8033:0.0	.	172	Q3LI81	KR271_HUMAN	F	172	ENSP00000372286:S172F	ENSP00000372286:S172F	S	-	2	0	KRTAP27-1	30631343	0.987000	0.35691	0.935000	0.37517	0.685000	0.39939	2.141000	0.42168	1.443000	0.47586	0.585000	0.79938	TCC	KRTAP27-1	-	pfam_PMG	ENSG00000206107		0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	49	0.00	0	G	NM_001077711		31709472	31709472	-1	no_errors	ENST00000382835	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.949	A
KRTAP27-1	643812	genome.wustl.edu	37	21	31709472	31709472	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:31709472G>A	ENST00000382835.2	-	1	540	c.515C>T	c.(514-516)tCc>tTc	p.S172F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	172						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						AGGTCTACAGGAACTGGATTC	0.468																																						dbGAP											0													116.0	111.0	113.0					21																	31709472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.515C>T	21.37:g.31709472G>A	ENSP00000372286:p.Ser172Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PMG	p.S172F	ENST00000382835.2	37	c.515	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891518	0.52014	.	.	ENSG00000206107	ENST00000382835	T	0.02837	4.14	4.44	3.54	0.40534	.	1.420810	0.04760	N	0.426157	T	0.14399	0.0348	M	0.65975	2.015	0.36193	D	0.850215	D	0.76494	0.999	D	0.70487	0.969	T	0.00475	-1.1717	10	0.59425	D	0.04	-0.0964	10.4884	0.44735	0.0:0.1967:0.8033:0.0	.	172	Q3LI81	KR271_HUMAN	F	172	ENSP00000372286:S172F	ENSP00000372286:S172F	S	-	2	0	KRTAP27-1	30631343	0.987000	0.35691	0.935000	0.37517	0.685000	0.39939	2.141000	0.42168	1.443000	0.47586	0.585000	0.79938	TCC	KRTAP27-1	-	pfam_PMG	ENSG00000206107		0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	35	0.00	0	G	NM_001077711		31709472	31709472	-1	no_errors	ENST00000382835	ensembl	human	known	69_37n	missense	16	20.00	4	SNP	0.949	A
L3MBTL4	91133	genome.wustl.edu	37	18	6093494	6093494	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:6093494C>T	ENST00000284898.6	-	15	1433	c.1233G>A	c.(1231-1233)ttG>ttA	p.L411L	L3MBTL4_ENST00000400105.2_Silent_p.L411L|L3MBTL4_ENST00000535782.1_Silent_p.L224L|L3MBTL4_ENST00000317931.7_Silent_p.L411L|L3MBTL4_ENST00000400104.3_Silent_p.L411L	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	411					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCTCCTTTTTCAAGTTCATGT	0.388																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											0													118.0	111.0	114.0					18																	6093494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1233G>A	18.37:g.6093494C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.L411	ENST00000284898.6	37	c.1233	CCDS11839.2	18																																																																																			L3MBTL4	-	NULL	ENSG00000154655		0.388	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	47	0.00	0	C	NM_173464		6093494	6093494	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	1.000	T
L3MBTL4	91133	genome.wustl.edu	37	18	6093494	6093494	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:6093494C>T	ENST00000284898.6	-	15	1433	c.1233G>A	c.(1231-1233)ttG>ttA	p.L411L	L3MBTL4_ENST00000400105.2_Silent_p.L411L|L3MBTL4_ENST00000535782.1_Silent_p.L224L|L3MBTL4_ENST00000317931.7_Silent_p.L411L|L3MBTL4_ENST00000400104.3_Silent_p.L411L	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	411					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				CCTCCTTTTTCAAGTTCATGT	0.388																																					Esophageal Squamous(41;748 902 17366 28959 43175)	dbGAP											0													118.0	111.0	114.0					18																	6093494		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1233G>A	18.37:g.6093494C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTL8|Q8IXS3	Silent	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.L411	ENST00000284898.6	37	c.1233	CCDS11839.2	18																																																																																			L3MBTL4	-	NULL	ENSG00000154655		0.388	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	51	0.00	0	C	NM_173464		6093494	6093494	-1	no_errors	ENST00000284898	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	1.000	T
LAMA4	3910	genome.wustl.edu	37	6	112440398	112440398	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:112440398C>T	ENST00000230538.7	-	34	5179	c.4782G>A	c.(4780-4782)ttG>ttA	p.L1594L	LAMA4_ENST00000424408.2_Silent_p.L1587L|LAMA4_ENST00000389463.4_Silent_p.L1587L|LAMA4_ENST00000522006.1_Silent_p.L1587L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1594	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCACACCTCCCAAATAAATGG	0.473																																						dbGAP											0													106.0	98.0	101.0					6																	112440398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4782G>A	6.37:g.112440398C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.L1594	ENST00000230538.7	37	c.4782	CCDS43491.1	6																																																																																			LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	62	0.00	0	C	NM_001105206		112440398	112440398	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.972	T
LAMA4	3910	genome.wustl.edu	37	6	112440398	112440398	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:112440398C>T	ENST00000230538.7	-	34	5179	c.4782G>A	c.(4780-4782)ttG>ttA	p.L1594L	LAMA4_ENST00000424408.2_Silent_p.L1587L|LAMA4_ENST00000389463.4_Silent_p.L1587L|LAMA4_ENST00000522006.1_Silent_p.L1587L	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1594	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCACACCTCCCAAATAAATGG	0.473																																						dbGAP											0													106.0	98.0	101.0					6																	112440398		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4782G>A	6.37:g.112440398C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EGF-like,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.L1594	ENST00000230538.7	37	c.4782	CCDS43491.1	6																																																																																			LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.473	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2	69	0.00	0	C	NM_001105206		112440398	112440398	-1	no_errors	ENST00000230538	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.972	T
LAMC1	3915	genome.wustl.edu	37	1	183106909	183106909	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:183106909G>C	ENST00000258341.4	+	26	4677	c.4420G>C	c.(4420-4422)Gag>Cag	p.E1474Q	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1474	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGCAGAAAAAGAGCTAAAGAG	0.428																																						dbGAP											0													91.0	87.0	88.0					1																	183106909		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4420G>C	1.37:g.183106909G>C	ENSP00000258341:p.Glu1474Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1474Q	ENST00000258341.4	37	c.4420	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876853	0.51801	.	.	ENSG00000135862	ENST00000258341	T	0.76968	-1.06	5.64	5.64	0.86602	.	0.095589	0.64402	D	0.000001	T	0.63686	0.2532	N	0.17082	0.46	0.58432	D	0.999998	B	0.21381	0.055	B	0.15052	0.012	T	0.58803	-0.7572	10	0.25106	T	0.35	.	15.2208	0.73310	0.0:0.1401:0.8599:0.0	.	1474	P11047	LAMC1_HUMAN	Q	1474	ENSP00000258341:E1474Q	ENSP00000258341:E1474Q	E	+	1	0	LAMC1	181373532	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	5.603000	0.67619	2.647000	0.89833	0.655000	0.94253	GAG	LAMC1	-	NULL	ENSG00000135862		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	41	0.00	0	G	NM_002293		183106909	183106909	+1	no_errors	ENST00000258341	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.999	C
LAMC1	3915	genome.wustl.edu	37	1	183106909	183106909	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:183106909G>C	ENST00000258341.4	+	26	4677	c.4420G>C	c.(4420-4422)Gag>Cag	p.E1474Q	RP11-181K3.4_ENST00000457852.3_RNA	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1474	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						AGCAGAAAAAGAGCTAAAGAG	0.428																																						dbGAP											0													91.0	87.0	88.0					1																	183106909		2203	4300	6503	-	-	-	SO:0001583	missense	0			J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.4420G>C	1.37:g.183106909G>C	ENSP00000258341:p.Glu1474Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYE7	Missense_Mutation	SNP	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E1474Q	ENST00000258341.4	37	c.4420	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	G	15.58	2.876853	0.51801	.	.	ENSG00000135862	ENST00000258341	T	0.76968	-1.06	5.64	5.64	0.86602	.	0.095589	0.64402	D	0.000001	T	0.63686	0.2532	N	0.17082	0.46	0.58432	D	0.999998	B	0.21381	0.055	B	0.15052	0.012	T	0.58803	-0.7572	10	0.25106	T	0.35	.	15.2208	0.73310	0.0:0.1401:0.8599:0.0	.	1474	P11047	LAMC1_HUMAN	Q	1474	ENSP00000258341:E1474Q	ENSP00000258341:E1474Q	E	+	1	0	LAMC1	181373532	1.000000	0.71417	0.962000	0.40283	0.976000	0.68499	5.603000	0.67619	2.647000	0.89833	0.655000	0.94253	GAG	LAMC1	-	NULL	ENSG00000135862		0.428	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	HGNC	protein_coding	OTTHUMT00000085954.2	38	0.00	0	G	NM_002293		183106909	183106909	+1	no_errors	ENST00000258341	ensembl	human	known	69_37n	missense	42	12.50	6	SNP	0.999	C
LAS1L	81887	genome.wustl.edu	37	X	64743518	64743518	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:64743518G>A	ENST00000374811.3	-	11	1410	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	LAS1L_ENST00000374807.5_Missense_Mutation_p.S440F|LAS1L_ENST00000374804.5_Missense_Mutation_p.S398F|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	457					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AAGGGAGGCGGAGCAGTTGAA	0.577																																						dbGAP											0													42.0	30.0	34.0					X																	64743518		2200	4299	6499	-	-	-	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1370C>T	X.37:g.64743518G>A	ENSP00000363944:p.Ser457Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.S457F	ENST00000374811.3	37	c.1370	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	7.555	0.663454	0.14710	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	1.78	0.24846	.	0.665014	0.14269	N	0.330295	T	0.36193	0.0958	L	0.57536	1.79	0.09310	N	1	P;P;P	0.47677	0.899;0.875;0.877	P;B;B	0.48227	0.571;0.446;0.365	T	0.25047	-1.0143	9	0.66056	D	0.02	.	2.9903	0.05981	0.2457:0.0:0.5196:0.2347	.	398;440;457	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	F	440;457;398	.	ENSP00000363937:S398F	S	-	2	0	LAS1L	64660243	0.655000	0.27376	0.543000	0.28128	0.503000	0.33858	1.418000	0.34782	0.862000	0.35528	0.287000	0.19450	TCC	LAS1L	-	NULL	ENSG00000001497		0.577	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	17	0.00	0	G	NM_031206		64743518	64743518	-1	no_errors	ENST00000374811	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.035	A
LAS1L	81887	genome.wustl.edu	37	X	64743518	64743518	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:64743518G>A	ENST00000374811.3	-	11	1410	c.1370C>T	c.(1369-1371)tCc>tTc	p.S457F	LAS1L_ENST00000374807.5_Missense_Mutation_p.S440F|LAS1L_ENST00000374804.5_Missense_Mutation_p.S398F|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	457					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						AAGGGAGGCGGAGCAGTTGAA	0.577																																						dbGAP											0													42.0	30.0	34.0					X																	64743518		2200	4299	6499	-	-	-	SO:0001583	missense	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1370C>T	X.37:g.64743518G>A	ENSP00000363944:p.Ser457Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.S457F	ENST00000374811.3	37	c.1370	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	7.555	0.663454	0.14710	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.89	1.78	0.24846	.	0.665014	0.14269	N	0.330295	T	0.36193	0.0958	L	0.57536	1.79	0.09310	N	1	P;P;P	0.47677	0.899;0.875;0.877	P;B;B	0.48227	0.571;0.446;0.365	T	0.25047	-1.0143	9	0.66056	D	0.02	.	2.9903	0.05981	0.2457:0.0:0.5196:0.2347	.	398;440;457	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2	.;.;LAS1L_HUMAN	F	440;457;398	.	ENSP00000363937:S398F	S	-	2	0	LAS1L	64660243	0.655000	0.27376	0.543000	0.28128	0.503000	0.33858	1.418000	0.34782	0.862000	0.35528	0.287000	0.19450	TCC	LAS1L	-	NULL	ENSG00000001497		0.577	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	23	0.00	0	G	NM_031206		64743518	64743518	-1	no_errors	ENST00000374811	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.035	A
LCA5L	150082	genome.wustl.edu	37	21	40777834	40777834	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:40777834C>T	ENST00000358268.2	-	10	2515	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	LCA5L_ENST00000380671.2_Missense_Mutation_p.E663K|LCA5L_ENST00000495240.1_5'Flank|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E663K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	663										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTTTCCTTCTGTAGGTGAC	0.388																																						dbGAP											0													45.0	49.0	48.0					21																	40777834		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1987G>A	21.37:g.40777834C>T	ENSP00000351008:p.Glu663Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.E663K	ENST00000358268.2	37	c.1987	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381667	0.82792	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.70399	-0.48;-0.48;-0.48	4.98	4.98	0.66077	.	0.119406	0.37530	N	0.002059	T	0.78059	0.4224	L	0.41710	1.295	0.34790	D	0.735668	D	0.89917	1.0	D	0.87578	0.998	D	0.84339	0.0526	10	0.87932	D	0	-19.8814	14.1401	0.65313	0.0:1.0:0.0:0.0	.	663	O95447	LCA5L_HUMAN	K	663	ENSP00000288350:E663K;ENSP00000370046:E663K;ENSP00000351008:E663K	ENSP00000288350:E663K	E	-	1	0	LCA5L	39699704	0.947000	0.32204	0.704000	0.30370	0.833000	0.47200	2.212000	0.42835	2.465000	0.83290	0.655000	0.94253	GAA	LCA5L	-	NULL	ENSG00000157578		0.388	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	60	0.00	0	C	NM_152505		40777834	40777834	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.963	T
LCA5L	150082	genome.wustl.edu	37	21	40777834	40777834	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:40777834C>T	ENST00000358268.2	-	10	2515	c.1987G>A	c.(1987-1989)Gaa>Aaa	p.E663K	LCA5L_ENST00000380671.2_Missense_Mutation_p.E663K|LCA5L_ENST00000495240.1_5'Flank|WRB_ENST00000541890.1_Intron|LCA5L_ENST00000288350.3_Missense_Mutation_p.E663K			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	663										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTTTTTCCTTCTGTAGGTGAC	0.388																																						dbGAP											0													45.0	49.0	48.0					21																	40777834		2202	4298	6500	-	-	-	SO:0001583	missense	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.1987G>A	21.37:g.40777834C>T	ENSP00000351008:p.Glu663Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	NULL	p.E663K	ENST00000358268.2	37	c.1987	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	C	23.2	4.381667	0.82792	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.70399	-0.48;-0.48;-0.48	4.98	4.98	0.66077	.	0.119406	0.37530	N	0.002059	T	0.78059	0.4224	L	0.41710	1.295	0.34790	D	0.735668	D	0.89917	1.0	D	0.87578	0.998	D	0.84339	0.0526	10	0.87932	D	0	-19.8814	14.1401	0.65313	0.0:1.0:0.0:0.0	.	663	O95447	LCA5L_HUMAN	K	663	ENSP00000288350:E663K;ENSP00000370046:E663K;ENSP00000351008:E663K	ENSP00000288350:E663K	E	-	1	0	LCA5L	39699704	0.947000	0.32204	0.704000	0.30370	0.833000	0.47200	2.212000	0.42835	2.465000	0.83290	0.655000	0.94253	GAA	LCA5L	-	NULL	ENSG00000157578		0.388	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	60	0.00	0	C	NM_152505		40777834	40777834	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	0.963	T
LIFR	3977	genome.wustl.edu	37	5	38493888	38493888	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:38493888C>G	ENST00000263409.4	-	14	2048		c.e14-1		LIFR_ENST00000453190.2_Splice_Site|LIFR_ENST00000503088.1_Splice_Site	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha						cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTGAGATCATCTTCAATAAGA	0.368			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	dbGAP		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													91.0	83.0	86.0					5																	38493888		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1886-1G>C	5.37:g.38493888C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LCD9	Splice_Site	SNP	-	e13-1	ENST00000263409.4	37	c.1886-1	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033702	0.35893	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9272	0.92550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIFR	38529645	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	4.722000	0.61958	2.791000	0.96007	0.591000	0.81541	.	LIFR	-	-	ENSG00000113594		0.368	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	38	0.00	0	C	NM_002310	Intron	38493888	38493888	-1	no_errors	ENST00000263409	ensembl	human	known	69_37n	splice_site	25	30.56	11	SNP	1.000	G
LIFR	3977	genome.wustl.edu	37	5	38493888	38493888	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:38493888C>G	ENST00000263409.4	-	14	2048		c.e14-1		LIFR_ENST00000453190.2_Splice_Site|LIFR_ENST00000503088.1_Splice_Site	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha						cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTGAGATCATCTTCAATAAGA	0.368			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)	dbGAP		Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0													91.0	83.0	86.0					5																	38493888		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.1886-1G>C	5.37:g.38493888C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6LCD9	Splice_Site	SNP	-	e13-1	ENST00000263409.4	37	c.1886-1	CCDS3927.1	5	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033702	0.35893	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9272	0.92550	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LIFR	38529645	1.000000	0.71417	1.000000	0.80357	0.247000	0.25773	4.722000	0.61958	2.791000	0.96007	0.591000	0.81541	.	LIFR	-	-	ENSG00000113594		0.368	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	40	0.00	0	C	NM_002310	Intron	38493888	38493888	-1	no_errors	ENST00000263409	ensembl	human	known	69_37n	splice_site	25	30.56	11	SNP	1.000	G
LONP2	83752	genome.wustl.edu	37	16	48286154	48286154	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:48286154G>C	ENST00000285737.4	+	2	439	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	LONP2_ENST00000535754.1_Missense_Mutation_p.E116Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTCTTAAAAGAGAAGCCATA	0.502																																						dbGAP											0													77.0	69.0	72.0					16																	48286154		2200	4300	6500	-	-	-	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.346G>C	16.37:g.48286154G>C	ENSP00000285737:p.Glu116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E116Q	ENST00000285737.4	37	c.346	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473979	0.63737	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.44482	0.92;0.92;0.92	5.08	5.08	0.68730	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.048620	0.85682	D	0.000000	T	0.46521	0.1397	M	0.68952	2.095	0.58432	D	0.999994	B;B	0.23377	0.084;0.041	B;B	0.26416	0.069;0.051	T	0.40156	-0.9578	10	0.34782	T	0.22	-27.3971	18.8615	0.92273	0.0:0.0:1.0:0.0	.	116;116	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	116	ENSP00000285737:E116Q;ENSP00000445426:E116Q;ENSP00000415983:E116Q	ENSP00000285737:E116Q	E	+	1	0	LONP2	46843655	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.330000	0.96422	2.524000	0.85096	0.650000	0.86243	GAG	LONP2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon	ENSG00000102910		0.502	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	66	0.00	0	G	NM_031490		48286154	48286154	+1	no_errors	ENST00000285737	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	C
LONP2	83752	genome.wustl.edu	37	16	48286154	48286154	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:48286154G>C	ENST00000285737.4	+	2	439	c.346G>C	c.(346-348)Gag>Cag	p.E116Q	LONP2_ENST00000535754.1_Missense_Mutation_p.E116Q	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGTCTTAAAAGAGAAGCCATA	0.502																																						dbGAP											0													77.0	69.0	72.0					16																	48286154		2200	4300	6500	-	-	-	SO:0001583	missense	0			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.346G>C	16.37:g.48286154G>C	ENSP00000285737:p.Glu116Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E116Q	ENST00000285737.4	37	c.346	CCDS10734.1	16	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473979	0.63737	.	.	ENSG00000102910	ENST00000285737;ENST00000535754;ENST00000416006	T;T;T	0.44482	0.92;0.92;0.92	5.08	5.08	0.68730	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.048620	0.85682	D	0.000000	T	0.46521	0.1397	M	0.68952	2.095	0.58432	D	0.999994	B;B	0.23377	0.084;0.041	B;B	0.26416	0.069;0.051	T	0.40156	-0.9578	10	0.34782	T	0.22	-27.3971	18.8615	0.92273	0.0:0.0:1.0:0.0	.	116;116	B7ZKL7;Q86WA8	.;LONP2_HUMAN	Q	116	ENSP00000285737:E116Q;ENSP00000445426:E116Q;ENSP00000415983:E116Q	ENSP00000285737:E116Q	E	+	1	0	LONP2	46843655	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.330000	0.96422	2.524000	0.85096	0.650000	0.86243	GAG	LONP2	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon	ENSG00000102910		0.502	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	68	0.00	0	G	NM_031490		48286154	48286154	+1	no_errors	ENST00000285737	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	C
LRAT	9227	genome.wustl.edu	37	4	155665727	155665727	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:155665727C>T	ENST00000336356.3	+	2	502	c.249C>T	c.(247-249)gaC>gaT	p.D83D	LRAT_ENST00000507827.1_Silent_p.D83D	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	83					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CCCTGACAGACGACATGGGGC	0.597																																						dbGAP											0													80.0	77.0	78.0					4																	155665727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.249C>T	4.37:g.155665727C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K983|Q8N716	Silent	SNP	pfam_LRAT-like_dom	p.D83	ENST00000336356.3	37	c.249	CCDS3789.1	4																																																																																			LRAT	-	NULL	ENSG00000121207		0.597	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	23	0.00	0	C	NM_004744		155665727	155665727	+1	no_errors	ENST00000336356	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.022	T
LRAT	9227	genome.wustl.edu	37	4	155665727	155665727	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:155665727C>T	ENST00000336356.3	+	2	502	c.249C>T	c.(247-249)gaC>gaT	p.D83D	LRAT_ENST00000507827.1_Silent_p.D83D	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	83					phototransduction, visible light (GO:0007603)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)	phosphatidylcholine-retinol O-acyltransferase activity (GO:0047173)|retinoic acid binding (GO:0001972)|retinol binding (GO:0019841)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CCCTGACAGACGACATGGGGC	0.597																																						dbGAP											0													80.0	77.0	78.0					4																	155665727		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF071510	CCDS3789.1	4q32.1	2014-01-28			ENSG00000121207	ENSG00000121207	2.3.1.135		6685	protein-coding gene	gene with protein product		604863				9920938	Standard	XM_006714412		Approved	LCA14	uc003ion.1	O95237	OTTHUMG00000161418	ENST00000336356.3:c.249C>T	4.37:g.155665727C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K983|Q8N716	Silent	SNP	pfam_LRAT-like_dom	p.D83	ENST00000336356.3	37	c.249	CCDS3789.1	4																																																																																			LRAT	-	NULL	ENSG00000121207		0.597	LRAT-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRAT	HGNC	protein_coding	OTTHUMT00000365246.1	25	0.00	0	C	NM_004744		155665727	155665727	+1	no_errors	ENST00000336356	ensembl	human	known	69_37n	silent	11	26.67	4	SNP	0.022	T
LRP12	29967	genome.wustl.edu	37	8	105509203	105509203	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:105509203C>T	ENST00000276654.5	-	5	1685	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	LRP12_ENST00000424843.2_Missense_Mutation_p.R507K|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	526					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TACTGACCTTCTTTCAAACAT	0.398																																						dbGAP											0													74.0	69.0	71.0					8																	105509203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1577G>A	8.37:g.105509203C>T	ENSP00000276654:p.Arg526Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R507K	ENST00000276654.5	37	c.1520	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132060	0.77662	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.93547	-1.83;-1.77;-3.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	N	0.14661	0.345	0.80722	D	1	D;D	0.58268	0.974;0.982	D;D	0.70487	0.969;0.952	D	0.93562	0.6896	10	0.41790	T	0.15	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	507;526	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	507;526;115	ENSP00000399148:R507K;ENSP00000276654:R526K;ENSP00000429305:R115K	ENSP00000276654:R526K	R	-	2	0	LRP12	105578379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.771000	0.68881	2.758000	0.94735	0.563000	0.77884	AGA	LRP12	-	NULL	ENSG00000147650		0.398	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	41	0.00	0	C	NM_013437		105509203	105509203	-1	no_errors	ENST00000424843	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
LRP12	29967	genome.wustl.edu	37	8	105509203	105509203	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:105509203C>T	ENST00000276654.5	-	5	1685	c.1577G>A	c.(1576-1578)aGa>aAa	p.R526K	LRP12_ENST00000424843.2_Missense_Mutation_p.R507K|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	526					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TACTGACCTTCTTTCAAACAT	0.398																																						dbGAP											0													74.0	69.0	71.0					8																	105509203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1577G>A	8.37:g.105509203C>T	ENSP00000276654:p.Arg526Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K137|B4DRQ2	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R507K	ENST00000276654.5	37	c.1520	CCDS6303.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132060	0.77662	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.93547	-1.83;-1.77;-3.24	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	N	0.14661	0.345	0.80722	D	1	D;D	0.58268	0.974;0.982	D;D	0.70487	0.969;0.952	D	0.93562	0.6896	10	0.41790	T	0.15	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	507;526	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	K	507;526;115	ENSP00000399148:R507K;ENSP00000276654:R526K;ENSP00000429305:R115K	ENSP00000276654:R526K	R	-	2	0	LRP12	105578379	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.771000	0.68881	2.758000	0.94735	0.563000	0.77884	AGA	LRP12	-	NULL	ENSG00000147650		0.398	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRP12	HGNC	protein_coding	OTTHUMT00000380821.1	59	0.00	0	C	NM_013437		105509203	105509203	-1	no_errors	ENST00000424843	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
LRP1B	53353	genome.wustl.edu	37	2	141474303	141474303	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:141474303G>C	ENST00000389484.3	-	36	6812	c.5841C>G	c.(5839-5841)atC>atG	p.I1947M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1947					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGTAATGATATCTTCTT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													153.0	138.0	143.0					2																	141474303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5841C>G	2.37:g.141474303G>C	ENSP00000374135:p.Ile1947Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,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.I1947M	ENST00000389484.3	37	c.5841	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600324	0.46423	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.47	2.19	0.27852	Six-bladed beta-propeller, TolB-like (1);	0.222293	0.36234	U	0.002712	D	0.92586	0.7645	M	0.89287	3.02	0.29402	N	0.861854	P	0.41366	0.747	B	0.42030	0.373	D	0.89279	0.3610	10	0.87932	D	0	.	10.8012	0.46489	0.3183:0.0:0.6817:0.0	.	1947	Q9NZR2	LRP1B_HUMAN	M	1947;1885	ENSP00000374135:I1947M	ENSP00000374135:I1947M	I	-	3	3	LRP1B	141190773	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.915000	0.39976	0.667000	0.31107	0.460000	0.39030	ATC	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	58	0.00	0	G	NM_018557		141474303	141474303	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141474303	141474303	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:141474303G>C	ENST00000389484.3	-	36	6812	c.5841C>G	c.(5839-5841)atC>atG	p.I1947M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1947					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTGGTAATGATATCTTCTT	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													153.0	138.0	143.0					2																	141474303		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5841C>G	2.37:g.141474303G>C	ENSP00000374135:p.Ile1947Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,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.I1947M	ENST00000389484.3	37	c.5841	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.66	2.600324	0.46423	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91792	-2.91	5.47	2.19	0.27852	Six-bladed beta-propeller, TolB-like (1);	0.222293	0.36234	U	0.002712	D	0.92586	0.7645	M	0.89287	3.02	0.29402	N	0.861854	P	0.41366	0.747	B	0.42030	0.373	D	0.89279	0.3610	10	0.87932	D	0	.	10.8012	0.46489	0.3183:0.0:0.6817:0.0	.	1947	Q9NZR2	LRP1B_HUMAN	M	1947;1885	ENSP00000374135:I1947M	ENSP00000374135:I1947M	I	-	3	3	LRP1B	141190773	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.915000	0.39976	0.667000	0.31107	0.460000	0.39030	ATC	LRP1B	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000168702		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	71	0.00	0	G	NM_018557		141474303	141474303	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	32	25.58	11	SNP	1.000	C
LRRC37A11P	342666	genome.wustl.edu	37	17	37186936	37186936	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:37186936C>G	ENST00000425901.2	+	0	778					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GGTTCCAGCTCAGACTCCAGA	0.572																																						dbGAP											0																																										-	-	-			0					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186936C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.572	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	26	0.00	0	C	NR_033753		37186936	37186936	+1	no_errors	ENST00000425901	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	0.000	G
LRRC37A11P	342666	genome.wustl.edu	37	17	37186936	37186936	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:37186936C>G	ENST00000425901.2	+	0	778					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		GGTTCCAGCTCAGACTCCAGA	0.572																																						dbGAP											0																																										-	-	-			0					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37186936C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-	ENSG00000214553		0.572	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	33	0.00	0	C	NR_033753		37186936	37186936	+1	no_errors	ENST00000425901	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	0.000	G
LRRC43	254050	genome.wustl.edu	37	12	122685172	122685172	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:122685172G>T	ENST00000339777.4	+	9	1613	c.1585G>T	c.(1585-1587)Gac>Tac	p.D529Y	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.D344Y	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	529	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		gaaggagaaagacaggacggg	0.587																																						dbGAP											0													89.0	106.0	101.0					12																	122685172		1977	4129	6106	-	-	-	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1585G>T	12.37:g.122685172G>T	ENSP00000344233:p.Asp529Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVT9	Missense_Mutation	SNP	NULL	p.D529Y	ENST00000339777.4	37	c.1585	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135713	0.37728	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.60920	0.15;0.6	4.31	2.38	0.29361	.	1.035740	0.07709	N	0.941757	T	0.43831	0.1265	N	0.22421	0.69	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.38243	-0.9670	10	0.66056	D	0.02	-12.6621	8.1757	0.31281	0.0:0.3234:0.5105:0.1661	.	529	Q8N309	LRC43_HUMAN	Y	529;400;344	ENSP00000344233:D529Y;ENSP00000416628:D344Y	ENSP00000289014:D400Y	D	+	1	0	LRRC43	121251125	0.468000	0.25839	0.000000	0.03702	0.001000	0.01503	2.019000	0.41001	0.488000	0.27723	-0.175000	0.13238	GAC	LRRC43	-	NULL	ENSG00000158113		0.587	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	87	0.00	0	G	NM_152759		122685172	122685172	+1	no_errors	ENST00000339777	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.000	T
LRRC43	254050	genome.wustl.edu	37	12	122685172	122685172	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:122685172G>T	ENST00000339777.4	+	9	1613	c.1585G>T	c.(1585-1587)Gac>Tac	p.D529Y	LRRC43_ENST00000537733.1_3'UTR|B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.D344Y	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	529	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		gaaggagaaagacaggacggg	0.587																																						dbGAP											0													89.0	106.0	101.0					12																	122685172		1977	4129	6106	-	-	-	SO:0001583	missense	0			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1585G>T	12.37:g.122685172G>T	ENSP00000344233:p.Asp529Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVT9	Missense_Mutation	SNP	NULL	p.D529Y	ENST00000339777.4	37	c.1585	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135713	0.37728	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.60920	0.15;0.6	4.31	2.38	0.29361	.	1.035740	0.07709	N	0.941757	T	0.43831	0.1265	N	0.22421	0.69	0.09310	N	1	B	0.19583	0.037	B	0.15052	0.012	T	0.38243	-0.9670	10	0.66056	D	0.02	-12.6621	8.1757	0.31281	0.0:0.3234:0.5105:0.1661	.	529	Q8N309	LRC43_HUMAN	Y	529;400;344	ENSP00000344233:D529Y;ENSP00000416628:D344Y	ENSP00000289014:D400Y	D	+	1	0	LRRC43	121251125	0.468000	0.25839	0.000000	0.03702	0.001000	0.01503	2.019000	0.41001	0.488000	0.27723	-0.175000	0.13238	GAC	LRRC43	-	NULL	ENSG00000158113		0.587	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	64	0.00	0	G	NM_152759		122685172	122685172	+1	no_errors	ENST00000339777	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	0.000	T
LRRC7	57554	genome.wustl.edu	37	1	70486741	70486741	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:70486741C>G	ENST00000035383.5	+	14	1390	c.1360C>G	c.(1360-1362)Caa>Gaa	p.Q454E	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q459E|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	454						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAGCAGAGACAACAACGCAT	0.353																																						dbGAP											0													84.0	81.0	82.0					1																	70486741		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1360C>G	1.37:g.70486741C>G	ENSP00000035383:p.Gln454Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q454E	ENST00000035383.5	37	c.1360	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237093	0.79800	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.40225	1.04;1.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	N	0.19112	0.55	0.80722	D	1	D	0.56968	0.978	P	0.55011	0.766	T	0.02925	-1.1093	10	0.22109	T	0.4	.	18.8773	0.92343	0.0:1.0:0.0:0.0	.	454	Q96NW7	LRRC7_HUMAN	E	459;454;277	ENSP00000309245:Q459E;ENSP00000035383:Q454E	ENSP00000035383:Q454E	Q	+	1	0	LRRC7	70259329	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.576000	0.60915	2.689000	0.91719	0.655000	0.94253	CAA	LRRC7	-	NULL	ENSG00000033122		0.353	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	65	0.00	0	C	NM_020794		70486741	70486741	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	1.000	G
LRRC7	57554	genome.wustl.edu	37	1	70486741	70486741	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:70486741C>G	ENST00000035383.5	+	14	1390	c.1360C>G	c.(1360-1362)Caa>Gaa	p.Q454E	LRRC7_ENST00000310961.5_Missense_Mutation_p.Q459E|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_5'UTR|RP11-181B18.1_ENST00000425754.1_RNA	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	454						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGAGCAGAGACAACAACGCAT	0.353																																						dbGAP											0													84.0	81.0	82.0					1																	70486741		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.1360C>G	1.37:g.70486741C>G	ENSP00000035383:p.Gln454Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Q454E	ENST00000035383.5	37	c.1360	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.237093	0.79800	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.40225	1.04;1.04	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	N	0.19112	0.55	0.80722	D	1	D	0.56968	0.978	P	0.55011	0.766	T	0.02925	-1.1093	10	0.22109	T	0.4	.	18.8773	0.92343	0.0:1.0:0.0:0.0	.	454	Q96NW7	LRRC7_HUMAN	E	459;454;277	ENSP00000309245:Q459E;ENSP00000035383:Q454E	ENSP00000035383:Q454E	Q	+	1	0	LRRC7	70259329	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.576000	0.60915	2.689000	0.91719	0.655000	0.94253	CAA	LRRC7	-	NULL	ENSG00000033122		0.353	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	57	0.00	0	C	NM_020794		70486741	70486741	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	1.000	G
LTK	4058	genome.wustl.edu	37	15	41797488	41797488	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:41797488G>A	ENST00000263800.6	-	15	1939	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	LTK_ENST00000561619.1_Silent_p.L313L|LTK_ENST00000453182.2_Silent_p.L485L|LTK_ENST00000355166.5_Silent_p.L554L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGCATGACCAGAGGTGATGGC	0.602										TSP Lung(18;0.14)																												dbGAP											0													47.0	45.0	45.0					15																	41797488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1843C>T	15.37:g.41797488G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	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.L615	ENST00000263800.6	37	c.1843	CCDS10077.1	15																																																																																			LTK	-	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	ENSG00000062524		0.602	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	57	0.00	0	G			41797488	41797488	-1	no_errors	ENST00000263800	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	1.000	A
LTK	4058	genome.wustl.edu	37	15	41797488	41797488	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:41797488G>A	ENST00000263800.6	-	15	1939	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L	LTK_ENST00000561619.1_Silent_p.L313L|LTK_ENST00000453182.2_Silent_p.L485L|LTK_ENST00000355166.5_Silent_p.L554L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	615	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CGCATGACCAGAGGTGATGGC	0.602										TSP Lung(18;0.14)																												dbGAP											0													47.0	45.0	45.0					15																	41797488		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.1843C>T	15.37:g.41797488G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	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.L615	ENST00000263800.6	37	c.1843	CCDS10077.1	15																																																																																			LTK	-	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	ENSG00000062524		0.602	LTK-001	KNOWN	basic|CCDS	protein_coding	LTK	HGNC	protein_coding	OTTHUMT00000252690.2	63	0.00	0	G			41797488	41797488	-1	no_errors	ENST00000263800	ensembl	human	known	69_37n	silent	38	11.63	5	SNP	1.000	A
LYPLA2	11313	genome.wustl.edu	37	1	24121280	24121280	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:24121280G>A	ENST00000374514.3	+	0	1061				LYPLA2_ENST00000374501.1_3'UTR|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AAGCAAGCGTGGCACCATCTT	0.617																																						dbGAP											0													11.0	11.0	11.0					1																	24121280		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.*58G>A	1.37:g.24121280G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Z2	RNA	SNP	-	NULL	ENST00000374514.3	37	NULL	CCDS241.1	1																																																																																			LYPLA2	-	-	ENSG00000011009		0.617	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA2	HGNC	protein_coding	OTTHUMT00000008245.1	55	0.00	0	G			24121280	24121280	+1	no_errors	ENST00000472213	ensembl	human	known	69_37n	rna	10	56.52	13	SNP	0.004	A
LYPLA2	11313	genome.wustl.edu	37	1	24121280	24121280	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:24121280G>A	ENST00000374514.3	+	0	1061				LYPLA2_ENST00000374501.1_3'UTR|LYPLA2_ENST00000400061.1_3'UTR|LYPLA2_ENST00000374503.3_3'UTR|LYPLA2_ENST00000495365.1_3'UTR|LYPLA2_ENST00000374502.3_3'UTR	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II						fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AAGCAAGCGTGGCACCATCTT	0.617																																						dbGAP											0													11.0	11.0	11.0					1																	24121280		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.*58G>A	1.37:g.24121280G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4Z2	RNA	SNP	-	NULL	ENST00000374514.3	37	NULL	CCDS241.1	1																																																																																			LYPLA2	-	-	ENSG00000011009		0.617	LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPLA2	HGNC	protein_coding	OTTHUMT00000008245.1	47	0.00	0	G			24121280	24121280	+1	no_errors	ENST00000472213	ensembl	human	known	69_37n	rna	10	56.52	13	SNP	0.004	A
LZTFL1	54585	genome.wustl.edu	37	3	45869969	45869969	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:45869969G>A	ENST00000296135.6	-	8	913	c.739C>T	c.(739-741)Cta>Tta	p.L247L	LZTFL1_ENST00000536047.1_Silent_p.L230L|LZTFL1_ENST00000490463.1_5'Flank|LZTFL1_ENST00000539217.1_Silent_p.L243L	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	247	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACCCTGAGTAGATCGTGCTTG	0.453																																						dbGAP											0													132.0	129.0	130.0					3																	45869969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.739C>T	3.37:g.45869969G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	NULL	p.S182F	ENST00000296135.6	37	c.545	CCDS2731.1	3	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572278	0.03882	.	.	ENSG00000163818	ENST00000440576	.	.	.	5.78	2.66	0.31614	.	.	.	.	.	T	0.58452	0.2123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53627	-0.8412	4	.	.	.	-0.4331	9.3036	0.37861	0.335:0.0:0.665:0.0	.	.	.	.	F	182	.	.	S	-	2	0	LZTFL1	45844973	1.000000	0.71417	0.668000	0.29813	0.094000	0.18550	2.020000	0.41010	0.795000	0.33922	-0.137000	0.14449	TCT	LZTFL1	-	NULL	ENSG00000163818		0.453	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTFL1	HGNC	protein_coding	OTTHUMT00000257326.3	49	0.00	0	G	NM_020347		45869969	45869969	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440576	ensembl	human	novel	69_37n	missense	38	20.83	10	SNP	0.988	A
LZTFL1	54585	genome.wustl.edu	37	3	45869969	45869969	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:45869969G>A	ENST00000296135.6	-	8	913	c.739C>T	c.(739-741)Cta>Tta	p.L247L	LZTFL1_ENST00000536047.1_Silent_p.L230L|LZTFL1_ENST00000490463.1_5'Flank|LZTFL1_ENST00000539217.1_Silent_p.L243L	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	247	Interaction with BSS9.				establishment of protein localization to organelle (GO:0072594)	BBSome (GO:0034464)|cytoplasm (GO:0005737)	identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACCCTGAGTAGATCGTGCTTG	0.453																																						dbGAP											0													132.0	129.0	130.0					3																	45869969		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ297351	CCDS2731.1, CCDS63608.1, CCDS63609.1	3p21.3	2014-01-28			ENSG00000163818	ENSG00000163818			6741	protein-coding gene	gene with protein product		606568				11352561, 22510444	Standard	NM_020347		Approved	BBS17	uc003cox.2	Q9NQ48	OTTHUMG00000133452	ENST00000296135.6:c.739C>T	3.37:g.45869969G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSI9|B4E0K7|Q8TC61|Q9NQ56	Missense_Mutation	SNP	NULL	p.S182F	ENST00000296135.6	37	c.545	CCDS2731.1	3	.	.	.	.	.	.	.	.	.	.	G	1.423	-0.572278	0.03882	.	.	ENSG00000163818	ENST00000440576	.	.	.	5.78	2.66	0.31614	.	.	.	.	.	T	0.58452	0.2123	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53627	-0.8412	4	.	.	.	-0.4331	9.3036	0.37861	0.335:0.0:0.665:0.0	.	.	.	.	F	182	.	.	S	-	2	0	LZTFL1	45844973	1.000000	0.71417	0.668000	0.29813	0.094000	0.18550	2.020000	0.41010	0.795000	0.33922	-0.137000	0.14449	TCT	LZTFL1	-	NULL	ENSG00000163818		0.453	LZTFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTFL1	HGNC	protein_coding	OTTHUMT00000257326.3	42	0.00	0	G	NM_020347		45869969	45869969	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000440576	ensembl	human	novel	69_37n	missense	38	20.83	10	SNP	0.988	A
LZTR1	8216	genome.wustl.edu	37	22	21348256	21348256	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:21348256G>A	ENST00000215739.8	+	13	1756	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.		R -> Q (in SWNTS2). {ECO:0000269|PubMed:24362817}.		anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647																																						dbGAP											0													33.0	35.0	35.0					22																	21348256		2201	4300	6501	-	-	-	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1397G>A	22.37:g.21348256G>A	ENSP00000215739:p.Arg466Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.R466Q	ENST00000215739.8	37	c.1397	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	36	5.796340	0.96952	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.69926	-0.44;-0.44	5.42	5.42	0.78866	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83261	0.5216	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	0.998;1.0;0.998;0.99	D	0.85716	0.1322	10	0.87932	D	0	-33.6838	16.7142	0.85393	0.0:0.0:1.0:0.0	.	447;425;466;425	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	Q	425;466;447	ENSP00000215739:R466Q;ENSP00000374006:R447Q	ENSP00000215739:R466Q	R	+	2	0	LZTR1	19678256	1.000000	0.71417	0.616000	0.29078	0.883000	0.51084	9.516000	0.98017	2.534000	0.85438	0.557000	0.71058	CGG	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.647	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	78	0.00	0	G	NM_006767		21348256	21348256	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	missense	28	12.50	4	SNP	0.977	A
LZTR1	8216	genome.wustl.edu	37	22	21349225	21349225	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:21349225G>A	ENST00000215739.8	+	16	2211	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E599K	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	618					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAAGGAGTTCGAGCGCCTCTC	0.602																																						dbGAP											0													93.0	85.0	88.0					22																	21349225		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1852G>A	22.37:g.21349225G>A	ENSP00000215739:p.Glu618Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E618K	ENST00000215739.8	37	c.1852	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426388	0.83667	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59083	0.71;0.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.992	T	0.76895	-0.2790	10	0.72032	D	0.01	-38.2982	16.6241	0.84937	0.0:0.0:1.0:0.0	.	599;618;577	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	K	577;618;599	ENSP00000215739:E618K;ENSP00000374006:E599K	ENSP00000215739:E618K	E	+	1	0	LZTR1	19679225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.853000	0.99521	2.513000	0.84729	0.556000	0.70494	GAG	LZTR1	-	NULL	ENSG00000099949		0.602	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	89	0.00	0	G	NM_006767		21349225	21349225	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	A
LZTR1	8216	genome.wustl.edu	37	22	21349225	21349225	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:21349225G>A	ENST00000215739.8	+	16	2211	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.E599K	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	618					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GAAGGAGTTCGAGCGCCTCTC	0.602																																						dbGAP											0													93.0	85.0	88.0					22																	21349225		2203	4300	6503	-	-	-	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1852G>A	22.37:g.21349225G>A	ENSP00000215739:p.Glu618Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.E618K	ENST00000215739.8	37	c.1852	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	g	23.5	4.426388	0.83667	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.59083	0.71;0.29	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.994;0.994;0.992	T	0.76895	-0.2790	10	0.72032	D	0.01	-38.2982	16.6241	0.84937	0.0:0.0:1.0:0.0	.	599;618;577	B7Z3T9;Q8N653;F5GXU8	.;LZTR1_HUMAN;.	K	577;618;599	ENSP00000215739:E618K;ENSP00000374006:E599K	ENSP00000215739:E618K	E	+	1	0	LZTR1	19679225	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.853000	0.99521	2.513000	0.84729	0.556000	0.70494	GAG	LZTR1	-	NULL	ENSG00000099949		0.602	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	62	0.00	0	G	NM_006767		21349225	21349225	+1	no_errors	ENST00000215739	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	A
MADD	8567	genome.wustl.edu	37	11	47296127	47296127	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:47296127G>C	ENST00000311027.5	+	3	241	c.76G>C	c.(76-78)Gat>Cat	p.D26H	MADD_ENST00000395336.3_Missense_Mutation_p.D26H|MADD_ENST00000395344.3_Missense_Mutation_p.D26H|MADD_ENST00000402799.1_Missense_Mutation_p.D26H|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000406482.1_Missense_Mutation_p.D26H|MADD_ENST00000342922.4_Missense_Mutation_p.D26H|MADD_ENST00000402192.2_Missense_Mutation_p.D26H|MADD_ENST00000407859.3_Missense_Mutation_p.D26H|MADD_ENST00000349238.3_Missense_Mutation_p.D26H|RP11-17G12.3_ENST00000543925.1_RNA	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.D26N(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCCGAGCAGTGATAGCGTGGC	0.498																																						dbGAP											1	Substitution - Missense(1)	lung(1)											129.0	129.0	129.0					11																	47296127		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.76G>C	11.37:g.47296127G>C	ENSP00000310933:p.Asp26His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D26H	ENST00000311027.5	37	c.76	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034950	0.75617	.	.	ENSG00000110514	ENST00000453571;ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000444117;ENST00000395336;ENST00000402192;ENST00000422579	T;T;T;T;T;T;T;T;T	0.06849	3.35;3.26;3.25;3.35;3.35;3.25;3.26;3.36;3.35	5.98	5.98	0.97165	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.994;1.0;0.998;0.998;0.994;0.997;1.0;0.994;0.994	D;D;D;D;D;D;D;D;D;D	0.91635	0.998;0.929;0.999;0.976;0.976;0.952;0.963;0.999;0.92;0.975	T	0.00350	-1.1797	10	0.72032	D	0.01	-24.5534	20.4561	0.99145	0.0:0.0:1.0:0.0	.	26;26;26;26;26;26;26;26;26;26	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	H	26	ENSP00000343902:D26H;ENSP00000385585:D26H;ENSP00000384435:D26H;ENSP00000304505:D26H;ENSP00000310933:D26H;ENSP00000384204:D26H;ENSP00000378753:D26H;ENSP00000378745:D26H;ENSP00000384287:D26H	ENSP00000310933:D26H	D	+	1	0	MADD	47252703	1.000000	0.71417	0.989000	0.46669	0.462000	0.32619	9.476000	0.97823	2.847000	0.97988	0.591000	0.81541	GAT	MADD	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000110514		0.498	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	53	0.00	0	G			47296127	47296127	+1	no_errors	ENST00000311027	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	C
MAP2	4133	genome.wustl.edu	37	2	210543376	210543376	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:210543376C>G	ENST00000360351.4	+	5	849	c.343C>G	c.(343-345)Caa>Gaa	p.Q115E	MAP2_ENST00000199940.6_Missense_Mutation_p.Q115E|MAP2_ENST00000447185.1_Missense_Mutation_p.Q115E|MAP2_ENST00000361559.4_Missense_Mutation_p.Q115E|MAP2_ENST00000392194.1_Missense_Mutation_p.Q115E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	115					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAGAAGCTCAACATAAAGA	0.438																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													117.0	108.0	111.0					2																	210543376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.343C>G	2.37:g.210543376C>G	ENSP00000353508:p.Gln115Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.Q115E	ENST00000360351.4	37	c.343	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599199	0.87055	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.04	5.04	0.67666	.	0.000000	0.51477	D	0.000098	T	0.28200	0.0696	N	0.19112	0.55	0.47341	D	0.999396	D;P;P;P;D;P	0.64830	0.993;0.954;0.891;0.924;0.994;0.798	D;D;P;P;D;B	0.77557	0.99;0.932;0.814;0.857;0.977;0.243	T	0.01762	-1.1279	10	0.02654	T	1	-12.1211	18.4117	0.90554	0.0:1.0:0.0:0.0	.	115;115;116;115;115;115	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	E	115;115;115;115;115;115;41	ENSP00000199940:Q115E;ENSP00000353508:Q115E;ENSP00000355290:Q115E;ENSP00000409969:Q115E;ENSP00000376032:Q115E;ENSP00000392164:Q115E;ENSP00000388824:Q41E	ENSP00000199940:Q115E	Q	+	1	0	MAP2	210251621	0.976000	0.34144	0.996000	0.52242	0.972000	0.66771	2.589000	0.46145	2.315000	0.78130	0.643000	0.83706	CAA	MAP2	-	NULL	ENSG00000078018		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	58	0.00	0	C	NM_001039538		210543376	210543376	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	G
MAP2	4133	genome.wustl.edu	37	2	210543376	210543376	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:210543376C>G	ENST00000360351.4	+	5	849	c.343C>G	c.(343-345)Caa>Gaa	p.Q115E	MAP2_ENST00000199940.6_Missense_Mutation_p.Q115E|MAP2_ENST00000447185.1_Missense_Mutation_p.Q115E|MAP2_ENST00000361559.4_Missense_Mutation_p.Q115E|MAP2_ENST00000392194.1_Missense_Mutation_p.Q115E	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	115					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GAAAGAAGCTCAACATAAAGA	0.438																																					Pancreas(27;423 979 28787 29963)	dbGAP											0													117.0	108.0	111.0					2																	210543376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.343C>G	2.37:g.210543376C>G	ENSP00000353508:p.Gln115Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.Q115E	ENST00000360351.4	37	c.343	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599199	0.87055	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15;2.15;2.15	5.04	5.04	0.67666	.	0.000000	0.51477	D	0.000098	T	0.28200	0.0696	N	0.19112	0.55	0.47341	D	0.999396	D;P;P;P;D;P	0.64830	0.993;0.954;0.891;0.924;0.994;0.798	D;D;P;P;D;B	0.77557	0.99;0.932;0.814;0.857;0.977;0.243	T	0.01762	-1.1279	10	0.02654	T	1	-12.1211	18.4117	0.90554	0.0:1.0:0.0:0.0	.	115;115;116;115;115;115	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	E	115;115;115;115;115;115;41	ENSP00000199940:Q115E;ENSP00000353508:Q115E;ENSP00000355290:Q115E;ENSP00000409969:Q115E;ENSP00000376032:Q115E;ENSP00000392164:Q115E;ENSP00000388824:Q41E	ENSP00000199940:Q115E	Q	+	1	0	MAP2	210251621	0.976000	0.34144	0.996000	0.52242	0.972000	0.66771	2.589000	0.46145	2.315000	0.78130	0.643000	0.83706	CAA	MAP2	-	NULL	ENSG00000078018		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	58	0.00	0	C	NM_001039538		210543376	210543376	+1	no_errors	ENST00000360351	ensembl	human	known	69_37n	missense	49	16.95	10	SNP	1.000	G
PCNXL3	399909	genome.wustl.edu	37	11	65380777	65380777	+	5'Flank	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:65380777C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.D151N|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATGTCCTCATCGGGGTCCTGG	0.637																																						dbGAP											0													48.0	50.0	49.0					11																	65380777		2201	4297	6498	-	-	-	SO:0001631	upstream_gene_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380777C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.D151N	ENST00000355703.3	37	c.451	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943319	0.92593	.	.	ENSG00000173327	ENST00000309100	D	0.82803	-1.65	3.93	3.93	0.45458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.156294	0.39759	N	0.001269	D	0.82949	0.5148	N	0.20766	0.605	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.85660	0.1288	10	0.87932	D	0	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	151	Q16584	M3K11_HUMAN	N	151	ENSP00000309597:D151N	ENSP00000309597:D151N	D	-	1	0	MAP3K11	65137353	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.858000	0.69532	2.046000	0.60703	0.563000	0.77884	GAT	MAP3K11	-	pirsf_MAPKKK9/10/11,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	ENSG00000173327		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	91	0.00	0	C	NM_032223		65380777	65380777	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
PCNXL3	399909	genome.wustl.edu	37	11	65380777	65380777	+	5'Flank	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:65380777C>T	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Missense_Mutation_p.D151N|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATGTCCTCATCGGGGTCCTGG	0.637																																						dbGAP											0													48.0	50.0	49.0					11																	65380777		2201	4297	6498	-	-	-	SO:0001631	upstream_gene_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380777C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.D151N	ENST00000355703.3	37	c.451	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943319	0.92593	.	.	ENSG00000173327	ENST00000309100	D	0.82803	-1.65	3.93	3.93	0.45458	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.156294	0.39759	N	0.001269	D	0.82949	0.5148	N	0.20766	0.605	0.80722	D	1	D	0.65815	0.995	D	0.64877	0.93	D	0.85660	0.1288	10	0.87932	D	0	.	13.5149	0.61535	0.0:1.0:0.0:0.0	.	151	Q16584	M3K11_HUMAN	N	151	ENSP00000309597:D151N	ENSP00000309597:D151N	D	-	1	0	MAP3K11	65137353	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	5.858000	0.69532	2.046000	0.60703	0.563000	0.77884	GAT	MAP3K11	-	pirsf_MAPKKK9/10/11,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	ENSG00000173327		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	75	0.00	0	C	NM_032223		65380777	65380777	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	T
PCNXL3	399909	genome.wustl.edu	37	11	65380870	65380870	+	5'Flank	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:65380870C>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Nonsense_Mutation_p.E120*|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATCACCTCCTCCAGCCGCAGC	0.672																																						dbGAP											0													35.0	39.0	38.0					11																	65380870		2194	4285	6479	-	-	-	SO:0001631	upstream_gene_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380870C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E120*	ENST00000355703.3	37	c.358	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.323474	0.98759	.	.	ENSG00000173327	ENST00000309100	.	.	.	4.61	4.61	0.57282	.	0.189271	0.34906	N	0.003595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.9677	0.71208	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000309597:E120X	E	-	1	0	MAP3K11	65137446	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.820000	0.55693	2.125000	0.65367	0.563000	0.77884	GAG	MAP3K11	-	pirsf_MAPKKK9/10/11,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	ENSG00000173327		0.672	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	128	0.00	0	C	NM_032223		65380870	65380870	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	nonsense	47	20.34	12	SNP	1.000	A
PCNXL3	399909	genome.wustl.edu	37	11	65380870	65380870	+	5'Flank	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:65380870C>A	ENST00000355703.3	+	0	0				MAP3K11_ENST00000309100.3_Nonsense_Mutation_p.E120*|MAP3K11_ENST00000530153.1_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)							integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						ATCACCTCCTCCAGCCGCAGC	0.672																																						dbGAP											0													35.0	39.0	38.0					11																	65380870		2194	4285	6479	-	-	-	SO:0001631	upstream_gene_variant	0			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539		11.37:g.65380870C>A	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6MZN8	Nonsense_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E120*	ENST00000355703.3	37	c.358	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	C	40	8.323474	0.98759	.	.	ENSG00000173327	ENST00000309100	.	.	.	4.61	4.61	0.57282	.	0.189271	0.34906	N	0.003595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	.	14.9677	0.71208	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000309597:E120X	E	-	1	0	MAP3K11	65137446	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.820000	0.55693	2.125000	0.65367	0.563000	0.77884	GAG	MAP3K11	-	pirsf_MAPKKK9/10/11,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	ENSG00000173327		0.672	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390321.1	84	0.00	0	C	NM_032223		65380870	65380870	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	nonsense	47	20.34	12	SNP	1.000	A
MAP7D1	55700	genome.wustl.edu	37	1	36642137	36642137	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:36642137C>T	ENST00000373151.2	+	7	1404	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	MAP7D1_ENST00000316156.4_Silent_p.A359A|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.A364A|MAP7D1_ENST00000373148.4_5'Flank	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	396					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCCAACGCCGGGGGCAGCC	0.781																																						dbGAP											0													3.0	4.0	3.0					1																	36642137		1368	3078	4446	-	-	-	SO:0001819	synonymous_variant	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1188C>T	1.37:g.36642137C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	pfam_E-MAP-115	p.A396	ENST00000373151.2	37	c.1188	CCDS30673.1	1																																																																																			MAP7D1	-	NULL	ENSG00000116871		0.781	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	15	0.00	0	C	NM_018067		36642137	36642137	+1	no_errors	ENST00000373151	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.812	T
MAP7D1	55700	genome.wustl.edu	37	1	36642137	36642137	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:36642137C>T	ENST00000373151.2	+	7	1404	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	MAP7D1_ENST00000316156.4_Silent_p.A359A|MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373150.4_Silent_p.A364A|MAP7D1_ENST00000373148.4_5'Flank	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	396					microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				AGCCCAACGCCGGGGGCAGCC	0.781																																						dbGAP											0													3.0	4.0	3.0					1																	36642137		1368	3078	4446	-	-	-	SO:0001819	synonymous_variant	0			AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.1188C>T	1.37:g.36642137C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	pfam_E-MAP-115	p.A396	ENST00000373151.2	37	c.1188	CCDS30673.1	1																																																																																			MAP7D1	-	NULL	ENSG00000116871		0.781	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP7D1	HGNC	protein_coding	OTTHUMT00000382095.1	8	0.00	0	C	NM_018067		36642137	36642137	+1	no_errors	ENST00000373151	ensembl	human	known	69_37n	silent	5	44.44	4	SNP	0.812	T
MARK2	2011	genome.wustl.edu	37	11	63670150	63670150	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:63670150G>C	ENST00000509502.2	+	13	1673	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	MARK2_ENST00000315032.8_Missense_Mutation_p.E438Q|MARK2_ENST00000408948.3_Missense_Mutation_p.E404Q|MARK2_ENST00000402010.2_Missense_Mutation_p.E438Q|MARK2_ENST00000377810.3_Missense_Mutation_p.E404Q|MARK2_ENST00000377809.4_Missense_Mutation_p.E438Q|MARK2_ENST00000502399.3_Missense_Mutation_p.E437Q|MARK2_ENST00000350490.7_Missense_Mutation_p.E437Q|MARK2_ENST00000425897.2_Missense_Mutation_p.E404Q|MARK2_ENST00000413835.2_Missense_Mutation_p.E438Q|MARK2_ENST00000508192.1_Missense_Mutation_p.E437Q|MARK2_ENST00000513765.2_Missense_Mutation_p.E405Q|MARK2_ENST00000361128.5_Missense_Mutation_p.E438Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TAAGCGGCCTGAGGAGGACCG	0.597																																						dbGAP											0													46.0	48.0	47.0					11																	63670150		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1210G>C	11.37:g.63670150G>C	ENSP00000423974:p.Glu404Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.E438Q	ENST00000509502.2	37	c.1312	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	g	16.24	3.067797	0.55539	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.71222	1.64;1.64;1.64;-0.54;1.69;1.69;-0.55;1.69;1.64;1.64;1.69;1.69	5.48	5.48	0.80851	.	0.393035	0.25780	N	0.028341	T	0.61565	0.2357	N	0.25825	0.765	0.51482	D	0.999927	B;B;B;B;B;B	0.32620	0.027;0.36;0.215;0.378;0.024;0.051	B;B;B;B;B;B	0.34931	0.011;0.192;0.135;0.145;0.018;0.041	T	0.58399	-0.7643	10	0.26408	T	0.33	.	18.1216	0.89573	0.0:0.0:1.0:0.0	.	404;404;437;438;438;437	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	438;438;438;438;404;437;438;437;437;404;405;404;404	ENSP00000385751:E438Q;ENSP00000326632:E438Q;ENSP00000367040:E438Q;ENSP00000389184:E438Q;ENSP00000367041:E404Q;ENSP00000425765:E437Q;ENSP00000355091:E438Q;ENSP00000294247:E437Q;ENSP00000423974:E404Q;ENSP00000421075:E405Q;ENSP00000386128:E404Q;ENSP00000415494:E404Q	ENSP00000326632:E438Q	E	+	1	0	MARK2	63426726	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.764000	0.62264	2.575000	0.86900	0.651000	0.88453	GAG	MARK2	-	NULL	ENSG00000072518		0.597	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	48	0.00	0	G	NM_017490		63670150	63670150	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	C
MARK2	2011	genome.wustl.edu	37	11	63670150	63670150	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:63670150G>C	ENST00000509502.2	+	13	1673	c.1210G>C	c.(1210-1212)Gag>Cag	p.E404Q	MARK2_ENST00000315032.8_Missense_Mutation_p.E438Q|MARK2_ENST00000408948.3_Missense_Mutation_p.E404Q|MARK2_ENST00000402010.2_Missense_Mutation_p.E438Q|MARK2_ENST00000377810.3_Missense_Mutation_p.E404Q|MARK2_ENST00000377809.4_Missense_Mutation_p.E438Q|MARK2_ENST00000502399.3_Missense_Mutation_p.E437Q|MARK2_ENST00000350490.7_Missense_Mutation_p.E437Q|MARK2_ENST00000425897.2_Missense_Mutation_p.E404Q|MARK2_ENST00000413835.2_Missense_Mutation_p.E438Q|MARK2_ENST00000508192.1_Missense_Mutation_p.E437Q|MARK2_ENST00000513765.2_Missense_Mutation_p.E405Q|MARK2_ENST00000361128.5_Missense_Mutation_p.E438Q	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TAAGCGGCCTGAGGAGGACCG	0.597																																						dbGAP											0													46.0	48.0	47.0					11																	63670150		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.1210G>C	11.37:g.63670150G>C	ENSP00000423974:p.Glu404Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase-assoc_KA1,superfamily_Kinase-like_dom,superfamily_Kinase-assoc_KA1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.E438Q	ENST00000509502.2	37	c.1312	CCDS41665.1	11	.	.	.	.	.	.	.	.	.	.	g	16.24	3.067797	0.55539	.	.	ENSG00000072518	ENST00000402010;ENST00000315032;ENST00000377809;ENST00000413835;ENST00000377810;ENST00000508192;ENST00000361128;ENST00000350490;ENST00000502399;ENST00000509502;ENST00000513765;ENST00000408948;ENST00000425897	T;T;T;T;T;T;T;T;T;T;T;T	0.71222	1.64;1.64;1.64;-0.54;1.69;1.69;-0.55;1.69;1.64;1.64;1.69;1.69	5.48	5.48	0.80851	.	0.393035	0.25780	N	0.028341	T	0.61565	0.2357	N	0.25825	0.765	0.51482	D	0.999927	B;B;B;B;B;B	0.32620	0.027;0.36;0.215;0.378;0.024;0.051	B;B;B;B;B;B	0.34931	0.011;0.192;0.135;0.145;0.018;0.041	T	0.58399	-0.7643	10	0.26408	T	0.33	.	18.1216	0.89573	0.0:0.0:1.0:0.0	.	404;404;437;438;438;437	E7ETY4;Q7KZI7-14;Q7KZI7-15;Q7KZI7-5;Q7KZI7;Q7KZI7-16	.;.;.;.;MARK2_HUMAN;.	Q	438;438;438;438;404;437;438;437;437;404;405;404;404	ENSP00000385751:E438Q;ENSP00000326632:E438Q;ENSP00000367040:E438Q;ENSP00000389184:E438Q;ENSP00000367041:E404Q;ENSP00000425765:E437Q;ENSP00000355091:E438Q;ENSP00000294247:E437Q;ENSP00000423974:E404Q;ENSP00000421075:E405Q;ENSP00000386128:E404Q;ENSP00000415494:E404Q	ENSP00000326632:E438Q	E	+	1	0	MARK2	63426726	1.000000	0.71417	0.997000	0.53966	0.815000	0.46073	4.764000	0.62264	2.575000	0.86900	0.651000	0.88453	GAG	MARK2	-	NULL	ENSG00000072518		0.597	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	MARK2	HGNC	protein_coding	OTTHUMT00000360862.2	42	0.00	0	G	NM_017490		63670150	63670150	+1	no_errors	ENST00000402010	ensembl	human	known	69_37n	missense	20	16.67	4	SNP	1.000	C
MAT2A	4144	genome.wustl.edu	37	2	85768262	85768262	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:85768262C>T	ENST00000306434.3	+	2	271	c.148C>T	c.(148-150)Cct>Tct	p.P50S	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	50					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGCAGGATCCTGATGCCAA	0.373																																						dbGAP											0													113.0	121.0	118.0					2																	85768262		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.148C>T	2.37:g.85768262C>T	ENSP00000303147:p.Pro50Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.P50S	ENST00000306434.3	37	c.148	CCDS1977.1	2	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743809	0.69418	.	.	ENSG00000168906	ENST00000306434	D	0.83914	-1.78	5.59	5.59	0.84812	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.88570	2.965	0.80722	D	1	P	0.51449	0.945	P	0.47827	0.558	D	0.90813	0.4703	10	0.72032	D	0.01	-20.1672	17.4486	0.87586	0.0:1.0:0.0:0.0	.	50	P31153	METK2_HUMAN	S	50	ENSP00000303147:P50S	ENSP00000303147:P50S	P	+	1	0	MAT2A	85621773	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.744000	0.68664	2.797000	0.96272	0.563000	0.77884	CCT	MAT2A	-	pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000168906		0.373	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	72	0.00	0	C	NM_005911		85768262	85768262	+1	no_errors	ENST00000306434	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
MAT2A	4144	genome.wustl.edu	37	2	85768262	85768262	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:85768262C>T	ENST00000306434.3	+	2	271	c.148C>T	c.(148-150)Cct>Tct	p.P50S	MAT2A_ENST00000409017.1_5'UTR	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	50					cellular nitrogen compound metabolic process (GO:0034641)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|S-adenosylmethionine biosynthetic process (GO:0006556)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|methionine adenosyltransferase complex (GO:0048269)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methionine adenosyltransferase activity (GO:0004478)			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TCAGCAGGATCCTGATGCCAA	0.373																																						dbGAP											0													113.0	121.0	118.0					2																	85768262		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1977.1	2p11.2	2008-06-03			ENSG00000168906	ENSG00000168906			6904	protein-coding gene	gene with protein product		601468				1426236, 9703951	Standard	NM_005911		Approved	SAMS2, MATA2, MATII	uc002spr.3	P31153	OTTHUMG00000130174	ENST00000306434.3:c.148C>T	2.37:g.85768262C>T	ENSP00000303147:p.Pro50Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K511|B4DN45|D6W5L1|Q53SP5	Missense_Mutation	SNP	pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	p.P50S	ENST00000306434.3	37	c.148	CCDS1977.1	2	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743809	0.69418	.	.	ENSG00000168906	ENST00000306434	D	0.83914	-1.78	5.59	5.59	0.84812	S-adenosylmethionine synthetase, N-terminal (1);S-adenosylmethionine synthetase superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.88570	2.965	0.80722	D	1	P	0.51449	0.945	P	0.47827	0.558	D	0.90813	0.4703	10	0.72032	D	0.01	-20.1672	17.4486	0.87586	0.0:1.0:0.0:0.0	.	50	P31153	METK2_HUMAN	S	50	ENSP00000303147:P50S	ENSP00000303147:P50S	P	+	1	0	MAT2A	85621773	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.744000	0.68664	2.797000	0.96272	0.563000	0.77884	CCT	MAT2A	-	pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase	ENSG00000168906		0.373	MAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAT2A	HGNC	protein_coding	OTTHUMT00000252491.2	55	0.00	0	C	NM_005911		85768262	85768262	+1	no_errors	ENST00000306434	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	1.000	T
MCF2L	23263	genome.wustl.edu	37	13	113715001	113715001	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:113715001G>C	ENST00000375608.3	+	6	612	c.554G>C	c.(553-555)aGa>aCa	p.R185T	MCF2L_ENST00000397030.1_Missense_Mutation_p.R188T|MCF2L_ENST00000375601.3_Missense_Mutation_p.R159T|MCF2L_ENST00000535094.2_Missense_Mutation_p.R155T|MCF2L_ENST00000375597.4_Missense_Mutation_p.R153T|MCF2L_ENST00000375604.2_Missense_Mutation_p.R212T|MCF2L_ENST00000442652.2_Missense_Mutation_p.R185T|MCF2L_ENST00000434480.2_Missense_Mutation_p.R161T|MCF2L_ENST00000421756.1_Missense_Mutation_p.R159T|MCF2L_ENST00000423482.2_Missense_Mutation_p.R153T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	185	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAATTCAATAGAGATGACTTT	0.542																																						dbGAP											0													67.0	67.0	67.0					13																	113715001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.554G>C	13.37:g.113715001G>C	ENSP00000364758:p.Arg185Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R212T	ENST00000375608.3	37	c.635		13	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321715	0.81580	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000423251	D;D;D;D;D;D;D;D;T;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;0.08;-1.8;-1.8;0.27	5.22	5.22	0.72569	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.057085	0.64402	D	0.000001	D	0.87059	0.6083	M	0.61703	1.905	0.31417	N	0.674769	P;P;D;D;P;D	0.60575	0.954;0.954;0.974;0.988;0.454;0.979	P;P;P;P;B;P	0.62298	0.76;0.76;0.839;0.9;0.346;0.9	D	0.87449	0.2400	10	0.87932	D	0	.	8.9541	0.35807	0.2079:0.0:0.7921:0.0	.	153;155;212;117;153;185	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	T	185;185;212;188;155;155;159;159;161;126;153;153;75	ENSP00000364758:R185T;ENSP00000401422:R185T;ENSP00000364754:R212T;ENSP00000380225:R188T;ENSP00000440374:R155T;ENSP00000397285:R159T;ENSP00000364751:R159T;ENSP00000407722:R161T;ENSP00000386551:R126T;ENSP00000405639:R153T;ENSP00000364747:R153T;ENSP00000405996:R75T	ENSP00000364747:R153T	R	+	2	0	MCF2L	112763002	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.519000	0.35888	2.427000	0.82271	0.655000	0.94253	AGA	MCF2L	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000126217		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	28	0.00	0	G			113715001	113715001	+1	no_errors	ENST00000375604	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	C
MCF2L	23263	genome.wustl.edu	37	13	113715001	113715001	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:113715001G>C	ENST00000375608.3	+	6	612	c.554G>C	c.(553-555)aGa>aCa	p.R185T	MCF2L_ENST00000397030.1_Missense_Mutation_p.R188T|MCF2L_ENST00000375601.3_Missense_Mutation_p.R159T|MCF2L_ENST00000535094.2_Missense_Mutation_p.R155T|MCF2L_ENST00000375597.4_Missense_Mutation_p.R153T|MCF2L_ENST00000375604.2_Missense_Mutation_p.R212T|MCF2L_ENST00000442652.2_Missense_Mutation_p.R185T|MCF2L_ENST00000434480.2_Missense_Mutation_p.R161T|MCF2L_ENST00000421756.1_Missense_Mutation_p.R159T|MCF2L_ENST00000423482.2_Missense_Mutation_p.R153T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	185	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAATTCAATAGAGATGACTTT	0.542																																						dbGAP											0													67.0	67.0	67.0					13																	113715001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.554G>C	13.37:g.113715001G>C	ENSP00000364758:p.Arg185Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.R212T	ENST00000375608.3	37	c.635		13	.	.	.	.	.	.	.	.	.	.	G	22.7	4.321715	0.81580	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000423251	D;D;D;D;D;D;D;D;T;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;-1.8;0.08;-1.8;-1.8;0.27	5.22	5.22	0.72569	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.057085	0.64402	D	0.000001	D	0.87059	0.6083	M	0.61703	1.905	0.31417	N	0.674769	P;P;D;D;P;D	0.60575	0.954;0.954;0.974;0.988;0.454;0.979	P;P;P;P;B;P	0.62298	0.76;0.76;0.839;0.9;0.346;0.9	D	0.87449	0.2400	10	0.87932	D	0	.	8.9541	0.35807	0.2079:0.0:0.7921:0.0	.	153;155;212;117;153;185	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	T	185;185;212;188;155;155;159;159;161;126;153;153;75	ENSP00000364758:R185T;ENSP00000401422:R185T;ENSP00000364754:R212T;ENSP00000380225:R188T;ENSP00000440374:R155T;ENSP00000397285:R159T;ENSP00000364751:R159T;ENSP00000407722:R161T;ENSP00000386551:R126T;ENSP00000405639:R153T;ENSP00000364747:R153T;ENSP00000405996:R75T	ENSP00000364747:R153T	R	+	2	0	MCF2L	112763002	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.519000	0.35888	2.427000	0.82271	0.655000	0.94253	AGA	MCF2L	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000126217		0.542	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	29	0.00	0	G			113715001	113715001	+1	no_errors	ENST00000375604	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	1.000	C
MCOLN3	55283	genome.wustl.edu	37	1	85491960	85491960	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:85491960C>G	ENST00000370589.2	-	8	892	c.840G>C	c.(838-840)aaG>aaC	p.K280N	MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.K224N|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.K280N	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	280					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGAGTGTTCTTCTGAACTG	0.348																																						dbGAP											0													107.0	99.0	101.0					1																	85491960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.840G>C	1.37:g.85491960C>G	ENSP00000359621:p.Lys280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.K280N	ENST00000370589.2	37	c.840	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283576	0.40394	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.80909	-1.43;-1.43;-1.43	6.16	4.3	0.51218	.	0.126768	0.64402	D	0.000001	T	0.67739	0.2925	M	0.62723	1.935	0.45076	D	0.998096	P;B;P;P	0.46020	0.871;0.404;0.813;0.846	P;B;B;B	0.45428	0.48;0.286;0.395;0.287	T	0.67063	-0.5765	10	0.15952	T	0.53	-2.8345	9.7752	0.40614	0.0:0.7954:0.0:0.2046	.	280;280;224;280	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	N	280;280;224;224;280	ENSP00000359621:K280N;ENSP00000342698:K224N;ENSP00000359619:K280N	ENSP00000304843:K280N	K	-	3	2	MCOLN3	85264548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.773000	0.38563	1.623000	0.50342	0.650000	0.86243	AAG	MCOLN3	-	NULL	ENSG00000055732		0.348	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	30	0.00	0	C	NM_018298		85491960	85491960	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	G
MCOLN3	55283	genome.wustl.edu	37	1	85491960	85491960	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:85491960C>G	ENST00000370589.2	-	8	892	c.840G>C	c.(838-840)aaG>aaC	p.K280N	MCOLN3_ENST00000474447.1_5'Flank|MCOLN3_ENST00000341115.4_Missense_Mutation_p.K224N|WDR63_ENST00000370596.1_Intron|MCOLN3_ENST00000370587.1_Missense_Mutation_p.K280N	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	280					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATGAGTGTTCTTCTGAACTG	0.348																																						dbGAP											0													107.0	99.0	101.0					1																	85491960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.840G>C	1.37:g.85491960C>G	ENSP00000359621:p.Lys280Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	pfam_PKD1_2_channel	p.K280N	ENST00000370589.2	37	c.840	CCDS701.1	1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.283576	0.40394	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.80909	-1.43;-1.43;-1.43	6.16	4.3	0.51218	.	0.126768	0.64402	D	0.000001	T	0.67739	0.2925	M	0.62723	1.935	0.45076	D	0.998096	P;B;P;P	0.46020	0.871;0.404;0.813;0.846	P;B;B;B	0.45428	0.48;0.286;0.395;0.287	T	0.67063	-0.5765	10	0.15952	T	0.53	-2.8345	9.7752	0.40614	0.0:0.7954:0.0:0.2046	.	280;280;224;280	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	N	280;280;224;224;280	ENSP00000359621:K280N;ENSP00000342698:K224N;ENSP00000359619:K280N	ENSP00000304843:K280N	K	-	3	2	MCOLN3	85264548	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.773000	0.38563	1.623000	0.50342	0.650000	0.86243	AAG	MCOLN3	-	NULL	ENSG00000055732		0.348	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCOLN3	HGNC	protein_coding	OTTHUMT00000027569.2	27	0.00	0	C	NM_018298		85491960	85491960	-1	no_errors	ENST00000302814	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	G
MCTP2	55784	genome.wustl.edu	37	15	94945131	94945131	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:94945131C>G	ENST00000357742.4	+	16	1968	c.1968C>G	c.(1966-1968)atC>atG	p.I656M	MCTP2_ENST00000451018.3_Missense_Mutation_p.I656M|MCTP2_ENST00000557742.1_Missense_Mutation_p.I244M|MCTP2_ENST00000331706.4_Missense_Mutation_p.I244M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	656					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAATCAGATCTTATCAAGAG	0.323																																						dbGAP											0													82.0	86.0	85.0					15																	94945131		2197	4298	6495	-	-	-	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1968C>G	15.37:g.94945131C>G	ENSP00000350377:p.Ile656Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I656M	ENST00000357742.4	37	c.1968	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375869	0.61735	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.69306	-0.39;-0.21;-0.15	5.53	0.33	0.15929	.	0.197954	0.53938	D	0.000050	T	0.71031	0.3292	L	0.53249	1.67	0.48901	D	0.999725	D;D;D	0.63046	0.989;0.973;0.992	D;P;P	0.64237	0.923;0.751;0.856	T	0.69139	-0.5224	10	0.72032	D	0.01	.	7.8213	0.29290	0.1185:0.6543:0.0:0.2272	.	656;244;656	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	M	656;244;656	ENSP00000395109:I656M;ENSP00000329646:I244M;ENSP00000350377:I656M	ENSP00000329646:I244M	I	+	3	3	MCTP2	92746135	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.825000	0.27393	0.169000	0.19679	0.655000	0.94253	ATC	MCTP2	-	NULL	ENSG00000140563		0.323	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	18	0.00	0	C	NM_018349		94945131	94945131	+1	no_errors	ENST00000357742	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	G
MCTP2	55784	genome.wustl.edu	37	15	94945131	94945131	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:94945131C>G	ENST00000357742.4	+	16	1968	c.1968C>G	c.(1966-1968)atC>atG	p.I656M	MCTP2_ENST00000451018.3_Missense_Mutation_p.I656M|MCTP2_ENST00000557742.1_Missense_Mutation_p.I244M|MCTP2_ENST00000331706.4_Missense_Mutation_p.I244M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	656					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAATCAGATCTTATCAAGAG	0.323																																						dbGAP											0													82.0	86.0	85.0					15																	94945131		2197	4298	6495	-	-	-	SO:0001583	missense	0			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1968C>G	15.37:g.94945131C>G	ENSP00000350377:p.Ile656Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I656M	ENST00000357742.4	37	c.1968	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375869	0.61735	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.69306	-0.39;-0.21;-0.15	5.53	0.33	0.15929	.	0.197954	0.53938	D	0.000050	T	0.71031	0.3292	L	0.53249	1.67	0.48901	D	0.999725	D;D;D	0.63046	0.989;0.973;0.992	D;P;P	0.64237	0.923;0.751;0.856	T	0.69139	-0.5224	10	0.72032	D	0.01	.	7.8213	0.29290	0.1185:0.6543:0.0:0.2272	.	656;244;656	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	M	656;244;656	ENSP00000395109:I656M;ENSP00000329646:I244M;ENSP00000350377:I656M	ENSP00000329646:I244M	I	+	3	3	MCTP2	92746135	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.825000	0.27393	0.169000	0.19679	0.655000	0.94253	ATC	MCTP2	-	NULL	ENSG00000140563		0.323	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	24	0.00	0	C	NM_018349		94945131	94945131	+1	no_errors	ENST00000357742	ensembl	human	known	69_37n	missense	11	26.67	4	SNP	1.000	G
MED12L	116931	genome.wustl.edu	37	3	151107800	151107800	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:151107800C>T	ENST00000474524.1	+	36	5418	c.5380C>T	c.(5380-5382)Cct>Tct	p.P1794S	MED12L_ENST00000273432.4_Missense_Mutation_p.P1654S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1794						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGAGTGCCTCCTAATTACTC	0.448																																						dbGAP											0													166.0	158.0	161.0					3																	151107800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5380C>T	3.37:g.151107800C>T	ENSP00000417235:p.Pro1794Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1794S	ENST00000474524.1	37	c.5380	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269657	0.80469	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62105	0.29;0.05	5.73	5.73	0.89815	.	0.282119	0.34777	N	0.003691	T	0.63546	0.2520	N	0.08118	0	0.49389	D	0.999789	P;D	0.63880	0.879;0.993	P;D	0.70227	0.473;0.968	T	0.70267	-0.4919	10	0.54805	T	0.06	-18.7807	17.6747	0.88227	0.0:1.0:0.0:0.0	.	1654;1794	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1794;1654	ENSP00000417235:P1794S;ENSP00000273432:P1654S	ENSP00000273432:P1654S	P	+	1	0	MED12L	152590490	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.605000	0.54088	2.707000	0.92482	0.561000	0.74099	CCT	MED12L	-	NULL	ENSG00000144893		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	56	0.00	0	C	NM_053002		151107800	151107800	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	151107800	151107800	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:151107800C>T	ENST00000474524.1	+	36	5418	c.5380C>T	c.(5380-5382)Cct>Tct	p.P1794S	MED12L_ENST00000273432.4_Missense_Mutation_p.P1654S	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1794						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGAGTGCCTCCTAATTACTC	0.448																																						dbGAP											0													166.0	158.0	161.0					3																	151107800		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5380C>T	3.37:g.151107800C>T	ENSP00000417235:p.Pro1794Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.P1794S	ENST00000474524.1	37	c.5380	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269657	0.80469	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.62105	0.29;0.05	5.73	5.73	0.89815	.	0.282119	0.34777	N	0.003691	T	0.63546	0.2520	N	0.08118	0	0.49389	D	0.999789	P;D	0.63880	0.879;0.993	P;D	0.70227	0.473;0.968	T	0.70267	-0.4919	10	0.54805	T	0.06	-18.7807	17.6747	0.88227	0.0:1.0:0.0:0.0	.	1654;1794	F8WAE6;Q86YW9	.;MD12L_HUMAN	S	1794;1654	ENSP00000417235:P1794S;ENSP00000273432:P1654S	ENSP00000273432:P1654S	P	+	1	0	MED12L	152590490	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.605000	0.54088	2.707000	0.92482	0.561000	0.74099	CCT	MED12L	-	NULL	ENSG00000144893		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	45	0.00	0	C	NM_053002		151107800	151107800	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	1.000	T
MED23	9439	genome.wustl.edu	37	6	131919505	131919505	+	Silent	SNP	G	G	A	rs561658259	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:131919505G>A	ENST00000368068.3	-	20	2708	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	MED23_ENST00000368058.1_Silent_p.L849L|MED23_ENST00000403834.3_Silent_p.L849L|MED23_ENST00000368053.4_Silent_p.L849L|MED23_ENST00000545957.1_Silent_p.L484L|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000540546.1_Silent_p.L849L|MED23_ENST00000354577.4_Silent_p.L849L|MED23_ENST00000368060.3_Silent_p.L843L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	843					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGCATTTATTGAGTTGCTGAC	0.383																																						dbGAP											0													72.0	75.0	74.0					6																	131919505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2529C>T	6.37:g.131919505G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L849	ENST00000368068.3	37	c.2547	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	53	0.00	0	G			131919505	131919505	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	silent	30	22.50	9	SNP	1.000	A
MED23	9439	genome.wustl.edu	37	6	131919505	131919505	+	Silent	SNP	G	G	A	rs561658259	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:131919505G>A	ENST00000368068.3	-	20	2708	c.2529C>T	c.(2527-2529)ctC>ctT	p.L843L	MED23_ENST00000368058.1_Silent_p.L849L|MED23_ENST00000403834.3_Silent_p.L849L|MED23_ENST00000368053.4_Silent_p.L849L|MED23_ENST00000545957.1_Silent_p.L484L|MED23_ENST00000479213.1_5'Flank|MED23_ENST00000540546.1_Silent_p.L849L|MED23_ENST00000354577.4_Silent_p.L849L|MED23_ENST00000368060.3_Silent_p.L843L	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	843					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGCATTTATTGAGTTGCTGAC	0.383																																						dbGAP											0													72.0	75.0	74.0					6																	131919505		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.2529C>T	6.37:g.131919505G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Silent	SNP	pfam_Mediator_Med23	p.L849	ENST00000368068.3	37	c.2547	CCDS5147.1	6																																																																																			MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.383	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	49	0.00	0	G			131919505	131919505	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	silent	30	22.50	9	SNP	1.000	A
MEGF6	1953	genome.wustl.edu	37	1	3407145	3407145	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:3407145G>C	ENST00000356575.4	-	37	4799	c.4573C>G	c.(4573-4575)Ctg>Gtg	p.L1525V	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Missense_Mutation_p.L1213V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1525						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GAGGCGGGCAGTGTGCCCGCT	0.677																																					Ovarian(73;978 3658)	dbGAP											0													32.0	41.0	38.0					1																	3407145		1964	4142	6106	-	-	-	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4573C>G	1.37:g.3407145G>C	ENSP00000348982:p.Leu1525Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.L1525V	ENST00000356575.4	37	c.4573	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490733	0.12702	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88046	-2.33;-1.89	3.16	2.23	0.28157	.	106.680000	0.00687	U	0.000706	T	0.78323	0.4265	N	0.17082	0.46	0.09310	N	1	B;B	0.22346	0.067;0.068	B;B	0.20955	0.014;0.032	T	0.64799	-0.6322	10	0.27785	T	0.31	.	6.1721	0.20422	0.141:0.0:0.859:0.0	.	1525;1213	O75095;O75095-2	MEGF6_HUMAN;.	V	1213;1525	ENSP00000294599:L1213V;ENSP00000348982:L1525V	ENSP00000294599:L1213V	L	-	1	2	MEGF6	3397005	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	1.711000	0.37930	0.904000	0.36572	0.591000	0.81541	CTG	MEGF6	-	NULL	ENSG00000162591		0.677	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	114	0.00	0	G	NM_001409		3407145	3407145	-1	no_errors	ENST00000356575	ensembl	human	known	69_37n	missense	30	27.91	12	SNP	0.001	C
MEGF6	1953	genome.wustl.edu	37	1	3407145	3407145	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:3407145G>C	ENST00000356575.4	-	37	4799	c.4573C>G	c.(4573-4575)Ctg>Gtg	p.L1525V	RP11-168F9.2_ENST00000606489.1_lincRNA|MEGF6_ENST00000294599.4_Missense_Mutation_p.L1213V	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1525						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GAGGCGGGCAGTGTGCCCGCT	0.677																																					Ovarian(73;978 3658)	dbGAP											0													32.0	41.0	38.0					1																	3407145		1964	4142	6106	-	-	-	SO:0001583	missense	0			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.4573C>G	1.37:g.3407145G>C	ENSP00000348982:p.Leu1525Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4AC86|Q5VV39	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.L1525V	ENST00000356575.4	37	c.4573	CCDS41237.1	1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490733	0.12702	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.88046	-2.33;-1.89	3.16	2.23	0.28157	.	106.680000	0.00687	U	0.000706	T	0.78323	0.4265	N	0.17082	0.46	0.09310	N	1	B;B	0.22346	0.067;0.068	B;B	0.20955	0.014;0.032	T	0.64799	-0.6322	10	0.27785	T	0.31	.	6.1721	0.20422	0.141:0.0:0.859:0.0	.	1525;1213	O75095;O75095-2	MEGF6_HUMAN;.	V	1213;1525	ENSP00000294599:L1213V;ENSP00000348982:L1525V	ENSP00000294599:L1213V	L	-	1	2	MEGF6	3397005	0.008000	0.16893	0.001000	0.08648	0.002000	0.02628	1.711000	0.37930	0.904000	0.36572	0.591000	0.81541	CTG	MEGF6	-	NULL	ENSG00000162591		0.677	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF6	HGNC	protein_coding	OTTHUMT00000354866.1	79	0.00	0	G	NM_001409		3407145	3407145	-1	no_errors	ENST00000356575	ensembl	human	known	69_37n	missense	30	27.91	12	SNP	0.001	C
MFSD11	79157	genome.wustl.edu	37	17	74737112	74737112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:74737112C>T	ENST00000588460.1	+	3	2268	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q76*	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGTAGGACCTCAACTCTCTAT	0.373																																						dbGAP											0													235.0	218.0	224.0					17																	74737112		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.226C>T	17.37:g.74737112C>T	ENSP00000464932:p.Gln76*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43442|Q9NXI5	Nonsense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Q76*	ENST00000588460.1	37	c.226	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.118865	0.98662	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3407	20.0522	0.97631	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000337240:Q76X	Q	+	1	0	MFSD11	72248707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.754000	0.68743	2.737000	0.93849	0.563000	0.77884	CAA	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.373	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	116	0.00	0	C	NM_024311		74737112	74737112	+1	no_errors	ENST00000336509	ensembl	human	known	69_37n	nonsense	57	28.75	23	SNP	1.000	T
MFSD11	79157	genome.wustl.edu	37	17	74737112	74737112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:74737112C>T	ENST00000588460.1	+	3	2268	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	MFSD11_ENST00000593181.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000586622.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000336509.4_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000590514.1_Nonsense_Mutation_p.Q76*|MFSD11_ENST00000355954.3_Nonsense_Mutation_p.Q76*	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	76						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGTAGGACCTCAACTCTCTAT	0.373																																						dbGAP											0													235.0	218.0	224.0					17																	74737112		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.226C>T	17.37:g.74737112C>T	ENSP00000464932:p.Gln76*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43442|Q9NXI5	Nonsense_Mutation	SNP	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.Q76*	ENST00000588460.1	37	c.226	CCDS11750.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.118865	0.98662	.	.	ENSG00000092931	ENST00000336509;ENST00000355954	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.3407	20.0522	0.97631	0.0:1.0:0.0:0.0	.	.	.	.	X	76	.	ENSP00000337240:Q76X	Q	+	1	0	MFSD11	72248707	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.754000	0.68743	2.737000	0.93849	0.563000	0.77884	CAA	MFSD11	-	pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000092931		0.373	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MFSD11	HGNC	protein_coding	OTTHUMT00000451516.1	112	0.00	0	C	NM_024311		74737112	74737112	+1	no_errors	ENST00000336509	ensembl	human	known	69_37n	nonsense	57	28.75	23	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	41988871	41988871	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:41988871G>A	ENST00000570161.1	+	2	1663	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N	MGA_ENST00000219905.7_Missense_Mutation_p.D555N|MGA_ENST00000389936.4_Missense_Mutation_p.D555N|MGA_ENST00000566586.1_Missense_Mutation_p.D555N|MGA_ENST00000545763.1_Missense_Mutation_p.D555N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAATATCCTGATATATCTGA	0.403																																						dbGAP											0													72.0	63.0	66.0					15																	41988871		1845	4099	5944	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1663G>A	15.37:g.41988871G>A	ENSP00000457035:p.Asp555Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.D555N	ENST00000570161.1	37	c.1663	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823710	0.16678	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85088	-1.94;-1.93;-1.91	5.54	3.68	0.42216	.	2.343620	0.00958	N	0.003072	T	0.79569	0.4468	L	0.27053	0.805	0.20489	N	0.999898	B;B	0.24823	0.082;0.112	B;B	0.26416	0.069;0.046	T	0.62058	-0.6934	10	0.20046	T	0.44	.	9.8016	0.40768	0.1625:0.0:0.8375:0.0	.	555;555	F5H7K2;E7ENI0	.;.	N	555	ENSP00000219905:D555N;ENSP00000374586:D555N;ENSP00000442467:D555N	ENSP00000219905:D555N	D	+	1	0	MGA	39776163	0.598000	0.26882	0.378000	0.26068	0.423000	0.31445	2.390000	0.44416	0.716000	0.32124	-0.448000	0.05591	GAT	MGA	-	NULL	ENSG00000174197		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	23	0.00	0	G	NM_001164273.1		41988871	41988871	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.694	A
MGA	23269	genome.wustl.edu	37	15	41988871	41988871	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:41988871G>A	ENST00000570161.1	+	2	1663	c.1663G>A	c.(1663-1665)Gat>Aat	p.D555N	MGA_ENST00000219905.7_Missense_Mutation_p.D555N|MGA_ENST00000389936.4_Missense_Mutation_p.D555N|MGA_ENST00000566586.1_Missense_Mutation_p.D555N|MGA_ENST00000545763.1_Missense_Mutation_p.D555N			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAAATATCCTGATATATCTGA	0.403																																						dbGAP											0													72.0	63.0	66.0					15																	41988871		1845	4099	5944	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1663G>A	15.37:g.41988871G>A	ENSP00000457035:p.Asp555Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.D555N	ENST00000570161.1	37	c.1663	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	8.318	0.823710	0.16678	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.85088	-1.94;-1.93;-1.91	5.54	3.68	0.42216	.	2.343620	0.00958	N	0.003072	T	0.79569	0.4468	L	0.27053	0.805	0.20489	N	0.999898	B;B	0.24823	0.082;0.112	B;B	0.26416	0.069;0.046	T	0.62058	-0.6934	10	0.20046	T	0.44	.	9.8016	0.40768	0.1625:0.0:0.8375:0.0	.	555;555	F5H7K2;E7ENI0	.;.	N	555	ENSP00000219905:D555N;ENSP00000374586:D555N;ENSP00000442467:D555N	ENSP00000219905:D555N	D	+	1	0	MGA	39776163	0.598000	0.26882	0.378000	0.26068	0.423000	0.31445	2.390000	0.44416	0.716000	0.32124	-0.448000	0.05591	GAT	MGA	-	NULL	ENSG00000174197		0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	20	0.00	0	G	NM_001164273.1		41988871	41988871	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.694	A
MGA	23269	genome.wustl.edu	37	15	42052659	42052659	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:42052659G>A	ENST00000570161.1	+	19	7330	c.7330G>A	c.(7330-7332)Gag>Aag	p.E2444K	MGA_ENST00000219905.7_Missense_Mutation_p.E2444K|MGA_ENST00000389936.4_Missense_Mutation_p.E2405K|MGA_ENST00000566586.1_Missense_Mutation_p.E2235K|MGA_ENST00000545763.1_Missense_Mutation_p.E2235K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGATCTCTTTGAGAAATTAAA	0.433																																						dbGAP											0													116.0	115.0	115.0					15																	42052659		1877	4099	5976	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7330G>A	15.37:g.42052659G>A	ENSP00000457035:p.Glu2444Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.E2444K	ENST00000570161.1	37	c.7330	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.237854	0.95240	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.98120	-4.73;-4.73;-4.73	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000058	D	0.98283	0.9431	L	0.55990	1.75	0.34638	D	0.720316	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.73380	0.975;0.942;0.98	D	0.99975	1.2156	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1060;2235;2444	B4DVS1;F5H7K2;E7ENI0	.;.;.	K	2444;2405;2235	ENSP00000219905:E2444K;ENSP00000374586:E2405K;ENSP00000442467:E2235K	ENSP00000219905:E2444K	E	+	1	0	MGA	39839951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	GAG	MGA	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000174197		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	38	0.00	0	G	NM_001164273.1		42052659	42052659	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42052659	42052659	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:42052659G>A	ENST00000570161.1	+	19	7330	c.7330G>A	c.(7330-7332)Gag>Aag	p.E2444K	MGA_ENST00000219905.7_Missense_Mutation_p.E2444K|MGA_ENST00000389936.4_Missense_Mutation_p.E2405K|MGA_ENST00000566586.1_Missense_Mutation_p.E2235K|MGA_ENST00000545763.1_Missense_Mutation_p.E2235K			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGATCTCTTTGAGAAATTAAA	0.433																																						dbGAP											0													116.0	115.0	115.0					15																	42052659		1877	4099	5976	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7330G>A	15.37:g.42052659G>A	ENSP00000457035:p.Glu2444Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.E2444K	ENST00000570161.1	37	c.7330	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	33	5.237854	0.95240	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.98120	-4.73;-4.73;-4.73	5.53	5.53	0.82687	.	0.000000	0.53938	D	0.000058	D	0.98283	0.9431	L	0.55990	1.75	0.34638	D	0.720316	D;D;D	0.71674	0.998;0.997;0.997	D;D;D	0.73380	0.975;0.942;0.98	D	0.99975	1.2156	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1060;2235;2444	B4DVS1;F5H7K2;E7ENI0	.;.;.	K	2444;2405;2235	ENSP00000219905:E2444K;ENSP00000374586:E2405K;ENSP00000442467:E2235K	ENSP00000219905:E2444K	E	+	1	0	MGA	39839951	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	GAG	MGA	-	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000174197		0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	48	0.00	0	G	NM_001164273.1		42052659	42052659	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
MIA3	375056	genome.wustl.edu	37	1	222803038	222803038	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:222803038G>C	ENST00000344922.5	+	4	2501	c.2476G>C	c.(2476-2478)Gaa>Caa	p.E826Q	MIA3_ENST00000344441.6_Missense_Mutation_p.E826Q|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	826					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGACCATTTGAACGAAGTGA	0.428																																						dbGAP											0													40.0	39.0	40.0					1																	222803038		1868	4091	5959	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2476G>C	1.37:g.222803038G>C	ENSP00000340900:p.Glu826Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E826Q	ENST00000344922.5	37	c.2476	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.34|11.34	1.611206|1.611206	0.28712|0.28712	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05382|.	3.45;3.45|.	4.99|4.99	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|.	0.34716|.	0.0907|.	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B|.	0.32829|.	0.194;0.386|.	B;B|.	0.31495|.	0.066;0.131|.	T|.	0.23440|.	-1.0188|.	9|.	0.33940|.	T|.	0.23|.	.|.	6.5524|6.5524	0.22442|0.22442	0.1517:0.2819:0.5664:0.0|0.1517:0.2819:0.5664:0.0	.|.	826;826|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Q|S	826|408	ENSP00000340900:E826Q;ENSP00000340587:E826Q|.	ENSP00000325973:E826Q|.	E|X	+|+	1|2	0|2	MIA3|MIA3	220869661|220869661	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	1.036000|1.036000	0.30228|0.30228	0.174000|0.174000	0.19809|0.19809	0.457000|0.457000	0.33378|0.33378	GAA|TGA	MIA3	-	NULL	ENSG00000154305		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	28	0.00	0	G	NM_198551		222803038	222803038	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.003	C
MIA3	375056	genome.wustl.edu	37	1	222803038	222803038	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:222803038G>C	ENST00000344922.5	+	4	2501	c.2476G>C	c.(2476-2478)Gaa>Caa	p.E826Q	MIA3_ENST00000344441.6_Missense_Mutation_p.E826Q|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	826					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAGACCATTTGAACGAAGTGA	0.428																																						dbGAP											0													40.0	39.0	40.0					1																	222803038		1868	4091	5959	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2476G>C	1.37:g.222803038G>C	ENSP00000340900:p.Glu826Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E826Q	ENST00000344922.5	37	c.2476	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	11.34|11.34	1.611206|1.611206	0.28712|0.28712	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05382|.	3.45;3.45|.	4.99|4.99	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|.	0.34716|.	0.0907|.	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	B;B|.	0.32829|.	0.194;0.386|.	B;B|.	0.31495|.	0.066;0.131|.	T|.	0.23440|.	-1.0188|.	9|.	0.33940|.	T|.	0.23|.	.|.	6.5524|6.5524	0.22442|0.22442	0.1517:0.2819:0.5664:0.0|0.1517:0.2819:0.5664:0.0	.|.	826;826|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	Q|S	826|408	ENSP00000340900:E826Q;ENSP00000340587:E826Q|.	ENSP00000325973:E826Q|.	E|X	+|+	1|2	0|2	MIA3|MIA3	220869661|220869661	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.007000|0.007000	0.05969|0.05969	1.036000|1.036000	0.30228|0.30228	0.174000|0.174000	0.19809|0.19809	0.457000|0.457000	0.33378|0.33378	GAA|TGA	MIA3	-	NULL	ENSG00000154305		0.428	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	29	0.00	0	G	NM_198551		222803038	222803038	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	0.003	C
MIA3	375056	genome.wustl.edu	37	1	222825379	222825379	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:222825379G>A	ENST00000344922.5	+	12	3995	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	MIA3_ENST00000344441.6_Missense_Mutation_p.E1324K|MIA3_ENST00000340535.7_Missense_Mutation_p.E202K|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1324					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAATGCCTCAGAATTTTCAGA	0.303																																						dbGAP											0													68.0	65.0	66.0					1																	222825379		1798	4075	5873	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3970G>A	1.37:g.222825379G>A	ENSP00000340900:p.Glu1324Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E1324K	ENST00000344922.5	37	c.3970	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574362	0.86542	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71461	-0.57;-0.57;-0.57	5.59	5.59	0.84812	.	.	.	.	.	D	0.82518	0.5054	M	0.68952	2.095	0.48632	D	0.999683	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.81597	-0.0860	9	0.45353	T	0.12	.	16.2119	0.82168	0.0:0.133:0.867:0.0	.	202;1324	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	K	1324;1324;202;202	ENSP00000340900:E1324K;ENSP00000340587:E1324K;ENSP00000345866:E202K	ENSP00000284471:E202K	E	+	1	0	MIA3	220892002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.728000	0.54991	2.787000	0.95880	0.655000	0.94253	GAA	MIA3	-	NULL	ENSG00000154305		0.303	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	45	0.00	0	G	NM_198551		222825379	222825379	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.998	A
MIA3	375056	genome.wustl.edu	37	1	222825379	222825379	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:222825379G>A	ENST00000344922.5	+	12	3995	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	MIA3_ENST00000344441.6_Missense_Mutation_p.E1324K|MIA3_ENST00000340535.7_Missense_Mutation_p.E202K|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1324					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAATGCCTCAGAATTTTCAGA	0.303																																						dbGAP											0													68.0	65.0	66.0					1																	222825379		1798	4075	5873	-	-	-	SO:0001583	missense	0				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3970G>A	1.37:g.222825379G>A	ENSP00000340900:p.Glu1324Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.E1324K	ENST00000344922.5	37	c.3970	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574362	0.86542	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000340535;ENST00000284471	T;T;T	0.71461	-0.57;-0.57;-0.57	5.59	5.59	0.84812	.	.	.	.	.	D	0.82518	0.5054	M	0.68952	2.095	0.48632	D	0.999683	D;D	0.89917	0.999;1.0	D;D	0.87578	0.994;0.998	T	0.81597	-0.0860	9	0.45353	T	0.12	.	16.2119	0.82168	0.0:0.133:0.867:0.0	.	202;1324	Q5JRA6-4;Q5JRA6	.;MIA3_HUMAN	K	1324;1324;202;202	ENSP00000340900:E1324K;ENSP00000340587:E1324K;ENSP00000345866:E202K	ENSP00000284471:E202K	E	+	1	0	MIA3	220892002	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.728000	0.54991	2.787000	0.95880	0.655000	0.94253	GAA	MIA3	-	NULL	ENSG00000154305		0.303	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	43	0.00	0	G	NM_198551		222825379	222825379	+1	no_errors	ENST00000344441	ensembl	human	known	69_37n	missense	42	20.75	11	SNP	0.998	A
MICAL3	57553	genome.wustl.edu	37	22	18314698	18314698	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:18314698C>G	ENST00000441493.2	-	21	3329	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	993	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		tcctcctcctcttcATTCCCA	0.537																																						dbGAP											0													74.0	64.0	67.0					22																	18314698		1564	3575	5139	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2977G>C	22.37:g.18314698C>G	ENSP00000416015:p.Glu993Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E993Q	ENST00000441493.2	37	c.2977	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344071	0.24339	.	.	ENSG00000093100	ENST00000441493	T	0.68025	-0.3	4.83	3.82	0.43975	.	.	.	.	.	T	0.53286	0.1787	L	0.36672	1.1	0.80722	D	1	P	0.50710	0.938	B	0.43508	0.422	T	0.45131	-0.9282	9	0.18276	T	0.48	.	8.7589	0.34663	0.1498:0.7689:0.0:0.0813	.	993	Q7RTP6	MICA3_HUMAN	Q	993	ENSP00000416015:E993Q	ENSP00000416015:E993Q	E	-	1	0	XXbac-B461K10.4	16694698	0.995000	0.38212	0.272000	0.24630	0.692000	0.40212	3.317000	0.51968	1.022000	0.39626	0.551000	0.68910	GAG	MICAL3	-	NULL	ENSG00000243156		0.537	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	45	0.00	0	C			18314698	18314698	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.993	G
MICAL3	57553	genome.wustl.edu	37	22	18314698	18314698	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:18314698C>G	ENST00000441493.2	-	21	3329	c.2977G>C	c.(2977-2979)Gag>Cag	p.E993Q		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	993	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|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)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		tcctcctcctcttcATTCCCA	0.537																																						dbGAP											0													74.0	64.0	67.0					22																	18314698		1564	3575	5139	-	-	-	SO:0001583	missense	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.2977G>C	22.37:g.18314698C>G	ENSP00000416015:p.Glu993Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E993Q	ENST00000441493.2	37	c.2977	CCDS46659.1	22	.	.	.	.	.	.	.	.	.	.	C	10.42	1.344071	0.24339	.	.	ENSG00000093100	ENST00000441493	T	0.68025	-0.3	4.83	3.82	0.43975	.	.	.	.	.	T	0.53286	0.1787	L	0.36672	1.1	0.80722	D	1	P	0.50710	0.938	B	0.43508	0.422	T	0.45131	-0.9282	9	0.18276	T	0.48	.	8.7589	0.34663	0.1498:0.7689:0.0:0.0813	.	993	Q7RTP6	MICA3_HUMAN	Q	993	ENSP00000416015:E993Q	ENSP00000416015:E993Q	E	-	1	0	XXbac-B461K10.4	16694698	0.995000	0.38212	0.272000	0.24630	0.692000	0.40212	3.317000	0.51968	1.022000	0.39626	0.551000	0.68910	GAG	MICAL3	-	NULL	ENSG00000243156		0.537	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	36	0.00	0	C			18314698	18314698	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.993	G
STRBP	55342	genome.wustl.edu	37	9	125876832	125876832	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:125876832G>A	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TGAAGATGCTGATAGGTCACA	0.582																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-4800C>T	9.37:g.125876832G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.582	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	32	0.00	0	G			125876832	125876832	-1	no_errors	ENST00000449175	ensembl	human	known	69_37n	rna	15	21.05	4	SNP	0.026	A
STRBP	55342	genome.wustl.edu	37	9	125876832	125876832	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:125876832G>A	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TGAAGATGCTGATAGGTCACA	0.582																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-4800C>T	9.37:g.125876832G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.582	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	36	0.00	0	G			125876832	125876832	-1	no_errors	ENST00000449175	ensembl	human	known	69_37n	rna	15	21.05	4	SNP	0.026	A
STRBP	55342	genome.wustl.edu	37	9	125877512	125877512	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:125877512G>C	ENST00000530364.1	-	2	31							Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GCCCGCCTCTGACTCCCCTCC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-5480C>G	9.37:g.125877512G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.597	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	43	0.00	0	G			125877512	125877512	-1	no_errors	ENST00000449175	ensembl	human	known	69_37n	rna	30	25.00	10	SNP	0.000	C
STRBP	55342	genome.wustl.edu	37	9	125877512	125877512	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:125877512G>C	ENST00000530364.1	-	2	31							Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GCCCGCCTCTGACTCCCCTCC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-5480C>G	9.37:g.125877512G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-	ENSG00000236901		0.597	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	37	0.00	0	G			125877512	125877512	-1	no_errors	ENST00000449175	ensembl	human	known	69_37n	rna	30	25.00	10	SNP	0.000	C
MIS18BP1	55320	genome.wustl.edu	37	14	45693596	45693596	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:45693596C>G	ENST00000310806.4	-	11	2652	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	732					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTCCTTTTCAAGGTTAGAT	0.303																																						dbGAP											0													69.0	71.0	71.0					14																	45693596		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2194G>C	14.37:g.45693596C>G	ENSP00000309790:p.Glu732Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E732Q	ENST00000310806.4	37	c.2194	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145241	0.06627	.	.	ENSG00000129534	ENST00000310806	T	0.19938	2.11	5.72	0.224	0.15297	.	0.787692	0.12286	N	0.482416	T	0.12732	0.0309	L	0.44542	1.39	0.09310	N	1	B	0.29716	0.255	B	0.19148	0.024	T	0.26292	-1.0107	10	0.22109	T	0.4	-3.3221	4.4392	0.11566	0.0:0.2892:0.216:0.4948	.	732	Q6P0N0	M18BP_HUMAN	Q	732	ENSP00000309790:E732Q	ENSP00000309790:E732Q	E	-	1	0	MIS18BP1	44763346	0.082000	0.21442	0.092000	0.20876	0.118000	0.20060	-0.059000	0.11731	0.183000	0.20059	-0.302000	0.09304	GAA	MIS18BP1	-	NULL	ENSG00000129534		0.303	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	56	0.00	0	C			45693596	45693596	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.017	G
MIS18BP1	55320	genome.wustl.edu	37	14	45693596	45693596	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:45693596C>G	ENST00000310806.4	-	11	2652	c.2194G>C	c.(2194-2196)Gaa>Caa	p.E732Q		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	732					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTCCTTTTCAAGGTTAGAT	0.303																																						dbGAP											0													69.0	71.0	71.0					14																	45693596		2203	4298	6501	-	-	-	SO:0001583	missense	0			AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2194G>C	14.37:g.45693596C>G	ENSP00000309790:p.Glu732Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Missense_Mutation	SNP	pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E732Q	ENST00000310806.4	37	c.2194	CCDS9684.1	14	.	.	.	.	.	.	.	.	.	.	C	3.290	-0.145241	0.06627	.	.	ENSG00000129534	ENST00000310806	T	0.19938	2.11	5.72	0.224	0.15297	.	0.787692	0.12286	N	0.482416	T	0.12732	0.0309	L	0.44542	1.39	0.09310	N	1	B	0.29716	0.255	B	0.19148	0.024	T	0.26292	-1.0107	10	0.22109	T	0.4	-3.3221	4.4392	0.11566	0.0:0.2892:0.216:0.4948	.	732	Q6P0N0	M18BP_HUMAN	Q	732	ENSP00000309790:E732Q	ENSP00000309790:E732Q	E	-	1	0	MIS18BP1	44763346	0.082000	0.21442	0.092000	0.20876	0.118000	0.20060	-0.059000	0.11731	0.183000	0.20059	-0.302000	0.09304	GAA	MIS18BP1	-	NULL	ENSG00000129534		0.303	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIS18BP1	HGNC	protein_coding	OTTHUMT00000276795.2	65	0.00	0	C			45693596	45693596	-1	no_errors	ENST00000310806	ensembl	human	known	69_37n	missense	46	25.81	16	SNP	0.017	G
MKKS	8195	genome.wustl.edu	37	20	10393660	10393660	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:10393660C>T	ENST00000347364.3	-	3	1265	c.503G>A	c.(502-504)aGa>aAa	p.R168K	MKKS_ENST00000399054.2_Missense_Mutation_p.R168K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	168					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGTTTCCTTTCTGGTGAGCAT	0.413																																					Melanoma(79;1979 2212 6640)	dbGAP											0													92.0	88.0	90.0					20																	10393660		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.503G>A	20.37:g.10393660C>T	ENSP00000246062:p.Arg168Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R168K	ENST00000347364.3	37	c.503	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.944693	0.00479	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.87029	-2.2;-2.2	5.63	-1.32	0.09201	.	0.788205	0.12721	N	0.444696	T	0.68860	0.3047	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52771	-0.8531	10	0.08599	T	0.76	-32.4283	2.545	0.04735	0.1074:0.3073:0.3391:0.2462	.	168	Q9NPJ1	MKKS_HUMAN	K	168	ENSP00000246062:R168K;ENSP00000382008:R168K	ENSP00000246062:R168K	R	-	2	0	MKKS	10341660	0.005000	0.15991	0.107000	0.21349	0.067000	0.16453	0.300000	0.19156	0.105000	0.17753	-0.225000	0.12378	AGA	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	29	0.00	0	C			10393660	10393660	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	T
MKKS	8195	genome.wustl.edu	37	20	10393660	10393660	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:10393660C>T	ENST00000347364.3	-	3	1265	c.503G>A	c.(502-504)aGa>aAa	p.R168K	MKKS_ENST00000399054.2_Missense_Mutation_p.R168K	NM_170784.2	NP_740754.1	Q9NPJ1	MKKS_HUMAN	McKusick-Kaufman syndrome	168					artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|chaperone-mediated protein complex assembly (GO:0051131)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|gonad development (GO:0008406)|heart development (GO:0007507)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of multicellular organism growth (GO:0040018)|protein folding (GO:0006457)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sensory perception of smell (GO:0007608)|social behavior (GO:0035176)|spermatid development (GO:0007286)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|stomach(2)	16						TGTTTCCTTTCTGGTGAGCAT	0.413																																					Melanoma(79;1979 2212 6640)	dbGAP											0													92.0	88.0	90.0					20																	10393660		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF221993	CCDS13111.1	20p12	2013-01-08			ENSG00000125863	ENSG00000125863		"""Heat Shock Proteins / Chaperonins"""	7108	protein-coding gene	gene with protein product		604896		BBS6		9467007	Standard	NR_072977		Approved		uc002wnu.2	Q9NPJ1	OTTHUMG00000031868	ENST00000347364.3:c.503G>A	20.37:g.10393660C>T	ENSP00000246062:p.Arg168Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7B0|D3DW18	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R168K	ENST00000347364.3	37	c.503	CCDS13111.1	20	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.944693	0.00479	.	.	ENSG00000125863	ENST00000347364;ENST00000399054	D;D	0.87029	-2.2;-2.2	5.63	-1.32	0.09201	.	0.788205	0.12721	N	0.444696	T	0.68860	0.3047	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.52771	-0.8531	10	0.08599	T	0.76	-32.4283	2.545	0.04735	0.1074:0.3073:0.3391:0.2462	.	168	Q9NPJ1	MKKS_HUMAN	K	168	ENSP00000246062:R168K;ENSP00000382008:R168K	ENSP00000246062:R168K	R	-	2	0	MKKS	10341660	0.005000	0.15991	0.107000	0.21349	0.067000	0.16453	0.300000	0.19156	0.105000	0.17753	-0.225000	0.12378	AGA	MKKS	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	ENSG00000125863		0.413	MKKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKKS	HGNC	protein_coding	OTTHUMT00000077991.3	32	0.00	0	C			10393660	10393660	-1	no_errors	ENST00000347364	ensembl	human	known	69_37n	missense	28	15.15	5	SNP	0.000	T
MKNK2	2872	genome.wustl.edu	37	19	2046591	2046591	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:2046591C>T	ENST00000591601.1	-	2	175				MKNK2_ENST00000250896.3_Intron|MKNK2_ENST00000541165.1_Intron|MKNK2_ENST00000309340.7_Intron			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCCCCTCGGGCCCCTCA	0.721																																						dbGAP											0													14.0	14.0	14.0					19																	2046591		2160	4257	6417	-	-	-	SO:0001627	intron_variant	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.139+11G>A	19.37:g.2046591C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	NULL	p.E51K	ENST00000591601.1	37	c.151	CCDS12080.1	19																																																																																			MKNK2	-	NULL	ENSG00000099875		0.721	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	97	0.00	0	C	NM_199054		2046591	2046591	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000589509	ensembl	human	putative	69_37n	missense	43	29.51	18	SNP	0.001	T
MKNK2	2872	genome.wustl.edu	37	19	2046591	2046591	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:2046591C>T	ENST00000591601.1	-	2	175				MKNK2_ENST00000250896.3_Intron|MKNK2_ENST00000541165.1_Intron|MKNK2_ENST00000309340.7_Intron			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2						cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCCCCTCGGGCCCCTCA	0.721																																						dbGAP											0													14.0	14.0	14.0					19																	2046591		2160	4257	6417	-	-	-	SO:0001627	intron_variant	0			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.139+11G>A	19.37:g.2046591C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Missense_Mutation	SNP	NULL	p.E51K	ENST00000591601.1	37	c.151	CCDS12080.1	19																																																																																			MKNK2	-	NULL	ENSG00000099875		0.721	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK2	HGNC	protein_coding	OTTHUMT00000449312.1	85	0.00	0	C	NM_199054		2046591	2046591	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000589509	ensembl	human	putative	69_37n	missense	43	29.51	18	SNP	0.001	T
MLIP	90523	genome.wustl.edu	37	6	54068429	54068429	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:54068429G>A	ENST00000274897.5	+	10	1226				MLIP_ENST00000514921.1_Intron|MLIP_ENST00000502396.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						tgttgtctaggctggagctca	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1113+1398G>A	6.37:g.54068429G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	RNA	SNP	-	NULL	ENST00000274897.5	37	NULL	CCDS4954.1	6																																																																																			MLIP	-	-	ENSG00000146147		0.498	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	27	0.00	0	G	NM_138569		54068429	54068429	+1	no_errors	ENST00000511744	ensembl	human	known	69_37n	rna	19	34.48	10	SNP	0.001	A
MLIP	90523	genome.wustl.edu	37	6	54068429	54068429	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:54068429G>A	ENST00000274897.5	+	10	1226				MLIP_ENST00000514921.1_Intron|MLIP_ENST00000502396.1_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						tgttgtctaggctggagctca	0.498																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1113+1398G>A	6.37:g.54068429G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2N0|D6RE05|Q96H08|Q96NF7	RNA	SNP	-	NULL	ENST00000274897.5	37	NULL	CCDS4954.1	6																																																																																			MLIP	-	-	ENSG00000146147		0.498	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLIP	HGNC	protein_coding	OTTHUMT00000040979.3	27	0.00	0	G	NM_138569		54068429	54068429	+1	no_errors	ENST00000511744	ensembl	human	known	69_37n	rna	19	34.48	10	SNP	0.001	A
MLXIPL	51085	genome.wustl.edu	37	7	73008622	73008622	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:73008622G>C	ENST00000313375.3	-	16	2469	c.2422C>G	c.(2422-2424)Ctg>Gtg	p.L808V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.L715V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L789V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L787V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L714V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L806V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	808					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L808V(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCGGGCAGAGAGCAGTAC	0.627																																						dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											82.0	74.0	77.0					7																	73008622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2422C>G	7.37:g.73008622G>C	ENSP00000320886:p.Leu808Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L808V	ENST00000313375.3	37	c.2422	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399560	0.62177	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.38077	2.07;2.02;2.05;2.03;1.4;1.16	4.53	1.73	0.24493	.	0.000000	0.56097	D	0.000034	T	0.54447	0.1859	M	0.75615	2.305	0.34977	D	0.753701	D;D;D;D;D	0.89917	0.998;0.997;0.998;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.991;0.996;0.999;0.999	T	0.63242	-0.6681	10	0.87932	D	0	-16.246	8.1595	0.31190	0.2732:0.0:0.7268:0.0	.	715;808;789;806;787	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	V	806;789;808;787;715;714	ENSP00000412330:L806V;ENSP00000406296:L789V;ENSP00000320886:L808V;ENSP00000346629:L787V;ENSP00000378616:L715V;ENSP00000392636:L714V	ENSP00000320886:L808V	L	-	1	2	MLXIPL	72646558	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.742000	0.62103	0.169000	0.19679	0.561000	0.74099	CTG	MLXIPL	-	NULL	ENSG00000009950		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	50	0.00	0	G	NM_032951		73008622	73008622	-1	no_errors	ENST00000313375	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	C
MLXIPL	51085	genome.wustl.edu	37	7	73008622	73008622	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:73008622G>C	ENST00000313375.3	-	16	2469	c.2422C>G	c.(2422-2424)Ctg>Gtg	p.L808V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.L715V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.L789V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.L787V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.L714V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.L806V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	808					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.L808V(2)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGAGCGGGCAGAGAGCAGTAC	0.627																																						dbGAP											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)											82.0	74.0	77.0					7																	73008622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.2422C>G	7.37:g.73008622G>C	ENSP00000320886:p.Leu808Val	Somatic		WXS	Illumina GAIIx	Phase_IV	C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L808V	ENST00000313375.3	37	c.2422	CCDS5553.1	7	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399560	0.62177	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.38077	2.07;2.02;2.05;2.03;1.4;1.16	4.53	1.73	0.24493	.	0.000000	0.56097	D	0.000034	T	0.54447	0.1859	M	0.75615	2.305	0.34977	D	0.753701	D;D;D;D;D	0.89917	0.998;0.997;0.998;1.0;0.999	D;D;D;D;D	0.91635	0.99;0.991;0.996;0.999;0.999	T	0.63242	-0.6681	10	0.87932	D	0	-16.246	8.1595	0.31190	0.2732:0.0:0.7268:0.0	.	715;808;789;806;787	Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;MLXPL_HUMAN;.;.;.	V	806;789;808;787;715;714	ENSP00000412330:L806V;ENSP00000406296:L789V;ENSP00000320886:L808V;ENSP00000346629:L787V;ENSP00000378616:L715V;ENSP00000392636:L714V	ENSP00000320886:L808V	L	-	1	2	MLXIPL	72646558	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	4.742000	0.62103	0.169000	0.19679	0.561000	0.74099	CTG	MLXIPL	-	NULL	ENSG00000009950		0.627	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLXIPL	HGNC	protein_coding	OTTHUMT00000252262.1	39	0.00	0	G	NM_032951		73008622	73008622	-1	no_errors	ENST00000313375	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	C
MMP16	4325	genome.wustl.edu	37	8	89339424	89339424	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:89339424G>A	ENST00000286614.6	-	1	293	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	4					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCTGAATGTGAGTAAGATCA	0.478																																						dbGAP											0													173.0	153.0	160.0					8																	89339424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.12C>T	8.37:g.89339424G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN7|Q14824|Q52H48	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.L4	ENST00000286614.6	37	c.12	CCDS6246.1	8																																																																																			MMP16	-	NULL	ENSG00000156103		0.478	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	62	0.00	0	G	NM_005941		89339424	89339424	-1	no_errors	ENST00000286614	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	1.000	A
MMP16	4325	genome.wustl.edu	37	8	89339424	89339424	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:89339424G>A	ENST00000286614.6	-	1	293	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000520849.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	4					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCTGAATGTGAGTAAGATCA	0.478																																						dbGAP											0													173.0	153.0	160.0					8																	89339424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.12C>T	8.37:g.89339424G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAN7|Q14824|Q52H48	Silent	SNP	pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin	p.L4	ENST00000286614.6	37	c.12	CCDS6246.1	8																																																																																			MMP16	-	NULL	ENSG00000156103		0.478	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	46	0.00	0	G	NM_005941		89339424	89339424	-1	no_errors	ENST00000286614	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	1.000	A
MOG	4340	genome.wustl.edu	37	6	29633972	29633972	+	Silent	SNP	G	G	A	rs148630553	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:29633972G>A	ENST00000376917.3	+	3	709	c.480G>A	c.(478-480)gcG>gcA	p.A160A	MOG_ENST00000396701.2_Silent_p.A160A|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000416766.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Silent_p.A160A|MOG_ENST00000483013.1_Silent_p.A44A|MOG_ENST00000376891.4_Silent_p.A160A|MOG_ENST00000376888.2_Silent_p.A44A|MOG_ENST00000376898.3_Silent_p.A160A|MOG_ENST00000431798.2_Silent_p.A160A|MOG_ENST00000490427.1_Silent_p.A44A|MOG_ENST00000376894.4_Silent_p.A160A|MOG_ENST00000494692.1_Silent_p.A160A	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTCCTCGCGGTGCTGCCTG	0.557																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											297.0	250.0	267.0					6																	29633972		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.480G>A	6.37:g.29633972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A160	ENST00000376917.3	37	c.480	CCDS34370.1	6																																																																																			MOG	-	pirsf_Myelin-oligodendrocyte_glycop	ENSG00000204655		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	52	0.00	0	G	NM_002433		29633972	29633972	+1	no_errors	ENST00000376898	ensembl	human	known	69_37n	silent	40	23.08	12	SNP	0.000	A
MOG	4340	genome.wustl.edu	37	6	29633972	29633972	+	Silent	SNP	G	G	A	rs148630553	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:29633972G>A	ENST00000376917.3	+	3	709	c.480G>A	c.(478-480)gcG>gcA	p.A160A	MOG_ENST00000396701.2_Silent_p.A160A|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000416766.2_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Silent_p.A160A|MOG_ENST00000483013.1_Silent_p.A44A|MOG_ENST00000376891.4_Silent_p.A160A|MOG_ENST00000376888.2_Silent_p.A44A|MOG_ENST00000376898.3_Silent_p.A160A|MOG_ENST00000431798.2_Silent_p.A160A|MOG_ENST00000490427.1_Silent_p.A44A|MOG_ENST00000376894.4_Silent_p.A160A|MOG_ENST00000494692.1_Silent_p.A160A	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	160					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A160A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTCCTCGCGGTGCTGCCTG	0.557																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											297.0	250.0	267.0					6																	29633972		1511	2709	4220	-	-	-	SO:0001819	synonymous_variant	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.480G>A	6.37:g.29633972G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Silent	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A160	ENST00000376917.3	37	c.480	CCDS34370.1	6																																																																																			MOG	-	pirsf_Myelin-oligodendrocyte_glycop	ENSG00000204655		0.557	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	49	0.00	0	G	NM_002433		29633972	29633972	+1	no_errors	ENST00000376898	ensembl	human	known	69_37n	silent	40	23.08	12	SNP	0.000	A
MORC3	23515	genome.wustl.edu	37	21	37741552	37741552	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:37741552C>T	ENST00000400485.1	+	15	1962	c.1886C>T	c.(1885-1887)tCa>tTa	p.S629L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	629					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGCACCTCATCATCCCGATGC	0.453																																						dbGAP											0													212.0	206.0	208.0					21																	37741552		2118	4236	6354	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1886C>T	21.37:g.37741552C>T	ENSP00000383333:p.Ser629Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S629L	ENST00000400485.1	37	c.1886	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	5.031	0.191330	0.09547	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	5.22	2.23	0.28157	.	1.416490	0.04028	N	0.300956	T	0.11750	0.0286	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.28138	-1.0053	10	0.27785	T	0.31	0.0057	3.9892	0.09529	0.0:0.5337:0.176:0.2903	.	629	Q14149	MORC3_HUMAN	L	629	ENSP00000383333:S629L	ENSP00000383333:S629L	S	+	2	0	MORC3	36663422	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.824000	0.27379	0.790000	0.33803	0.655000	0.94253	TCA	MORC3	-	NULL	ENSG00000159256		0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	54	0.00	0	C	NM_015358		37741552	37741552	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.000	T
MORC3	23515	genome.wustl.edu	37	21	37741552	37741552	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:37741552C>T	ENST00000400485.1	+	15	1962	c.1886C>T	c.(1885-1887)tCa>tTa	p.S629L	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	629					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AGCACCTCATCATCCCGATGC	0.453																																						dbGAP											0													212.0	206.0	208.0					21																	37741552		2118	4236	6354	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1886C>T	21.37:g.37741552C>T	ENSP00000383333:p.Ser629Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S629L	ENST00000400485.1	37	c.1886	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	C	5.031	0.191330	0.09547	.	.	ENSG00000159256	ENST00000400485	T	0.15017	2.46	5.22	2.23	0.28157	.	1.416490	0.04028	N	0.300956	T	0.11750	0.0286	N	0.22421	0.69	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.28138	-1.0053	10	0.27785	T	0.31	0.0057	3.9892	0.09529	0.0:0.5337:0.176:0.2903	.	629	Q14149	MORC3_HUMAN	L	629	ENSP00000383333:S629L	ENSP00000383333:S629L	S	+	2	0	MORC3	36663422	0.000000	0.05858	0.001000	0.08648	0.145000	0.21501	0.824000	0.27379	0.790000	0.33803	0.655000	0.94253	TCA	MORC3	-	NULL	ENSG00000159256		0.453	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	55	0.00	0	C	NM_015358		37741552	37741552	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.000	T
MORC3	23515	genome.wustl.edu	37	21	37742172	37742172	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:37742172G>A	ENST00000400485.1	+	15	2582	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	836					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTATAAAAGTGAGGTGAGTTA	0.448																																						dbGAP											0													122.0	113.0	116.0					21																	37742172		1970	4145	6115	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2506G>A	21.37:g.37742172G>A	ENSP00000383333:p.Glu836Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.E836K	ENST00000400485.1	37	c.2506	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967918	0.53507	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.56	5.56	0.83823	.	0.179473	0.49916	D	0.000131	T	0.17195	0.0413	L	0.51422	1.61	0.42127	D	0.991451	P	0.43857	0.819	B	0.41374	0.355	T	0.00829	-1.1549	10	0.49607	T	0.09	-25.7597	16.0577	0.80817	0.0:0.1432:0.8568:0.0	.	836	Q14149	MORC3_HUMAN	K	836	ENSP00000383333:E836K	ENSP00000383333:E836K	E	+	1	0	MORC3	36664042	0.999000	0.42202	0.978000	0.43139	0.599000	0.36880	3.154000	0.50693	2.600000	0.87896	0.655000	0.94253	GAG	MORC3	-	NULL	ENSG00000159256		0.448	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	29	0.00	0	G	NM_015358		37742172	37742172	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
MORC3	23515	genome.wustl.edu	37	21	37742172	37742172	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:37742172G>A	ENST00000400485.1	+	15	2582	c.2506G>A	c.(2506-2508)Gag>Aag	p.E836K	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	836					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTATAAAAGTGAGGTGAGTTA	0.448																																						dbGAP											0													122.0	113.0	116.0					21																	37742172		1970	4145	6115	-	-	-	SO:0001583	missense	0			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.2506G>A	21.37:g.37742172G>A	ENSP00000383333:p.Glu836Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA92|Q9UEZ2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.E836K	ENST00000400485.1	37	c.2506	CCDS42924.1	21	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967918	0.53507	.	.	ENSG00000159256	ENST00000400485	T	0.13657	2.57	5.56	5.56	0.83823	.	0.179473	0.49916	D	0.000131	T	0.17195	0.0413	L	0.51422	1.61	0.42127	D	0.991451	P	0.43857	0.819	B	0.41374	0.355	T	0.00829	-1.1549	10	0.49607	T	0.09	-25.7597	16.0577	0.80817	0.0:0.1432:0.8568:0.0	.	836	Q14149	MORC3_HUMAN	K	836	ENSP00000383333:E836K	ENSP00000383333:E836K	E	+	1	0	MORC3	36664042	0.999000	0.42202	0.978000	0.43139	0.599000	0.36880	3.154000	0.50693	2.600000	0.87896	0.655000	0.94253	GAG	MORC3	-	NULL	ENSG00000159256		0.448	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MORC3	HGNC	protein_coding	OTTHUMT00000194640.1	32	0.00	0	G	NM_015358		37742172	37742172	+1	no_errors	ENST00000400485	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	A
MORN4	118812	genome.wustl.edu	37	10	99379352	99379352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:99379352C>T	ENST00000307450.6	-	2	222	c.59G>A	c.(58-60)tGg>tAg	p.W20*	MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_Nonsense_Mutation_p.W20*|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000370635.3_Nonsense_Mutation_p.W20*|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	20										large_intestine(1)|lung(1)|stomach(2)	4						ACCCTCCTTCCACTCGCCACG	0.453																																						dbGAP											0													125.0	116.0	119.0					10																	99379352		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.59G>A	10.37:g.99379352C>T	ENSP00000307636:p.Trp20*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Y54	Nonsense_Mutation	SNP	pfam_MORN,smart_MORN	p.W20*	ENST00000307450.6	37	c.59	CCDS7468.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.130698	0.97310	.	.	ENSG00000171160	ENST00000307450;ENST00000478953;ENST00000515674;ENST00000370635	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000307636:W20X	W	-	2	0	MORN4	99369342	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.282000	0.78630	2.941000	0.99782	0.655000	0.94253	TGG	MORN4	-	pfam_MORN,smart_MORN	ENSG00000171160		0.453	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN4	HGNC	protein_coding	OTTHUMT00000049730.1	53	0.00	0	C	NM_178832		99379352	99379352	-1	no_errors	ENST00000307450	ensembl	human	known	69_37n	nonsense	31	11.43	4	SNP	1.000	T
MORN4	118812	genome.wustl.edu	37	10	99379352	99379352	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:99379352C>T	ENST00000307450.6	-	2	222	c.59G>A	c.(58-60)tGg>tAg	p.W20*	MORN4_ENST00000335628.3_Intron|MORN4_ENST00000478953.1_Nonsense_Mutation_p.W20*|PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000370635.3_Nonsense_Mutation_p.W20*|PI4K2A_ENST00000555577.1_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	20										large_intestine(1)|lung(1)|stomach(2)	4						ACCCTCCTTCCACTCGCCACG	0.453																																						dbGAP											0													125.0	116.0	119.0					10																	99379352		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.59G>A	10.37:g.99379352C>T	ENSP00000307636:p.Trp20*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Y54	Nonsense_Mutation	SNP	pfam_MORN,smart_MORN	p.W20*	ENST00000307450.6	37	c.59	CCDS7468.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.130698	0.97310	.	.	ENSG00000171160	ENST00000307450;ENST00000478953;ENST00000515674;ENST00000370635	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	20	.	ENSP00000307636:W20X	W	-	2	0	MORN4	99369342	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.282000	0.78630	2.941000	0.99782	0.655000	0.94253	TGG	MORN4	-	pfam_MORN,smart_MORN	ENSG00000171160		0.453	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN4	HGNC	protein_coding	OTTHUMT00000049730.1	45	0.00	0	C	NM_178832		99379352	99379352	-1	no_errors	ENST00000307450	ensembl	human	known	69_37n	nonsense	31	11.43	4	SNP	1.000	T
MOV10	4343	genome.wustl.edu	37	1	113242848	113242848	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:113242848G>C	ENST00000413052.2	+	20	3196	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q	MOV10_ENST00000357443.2_Missense_Mutation_p.E936Q|MOV10_ENST00000369644.1_Missense_Mutation_p.E880Q|MOV10_ENST00000369645.1_Missense_Mutation_p.E936Q|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	936	Interaction with AGO2 and APOBEC3G.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGATTCCTGGAGTTCTGTAA	0.532																																						dbGAP											0													59.0	60.0	59.0					1																	113242848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2806G>C	1.37:g.113242848G>C	ENSP00000399797:p.Glu936Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.E936Q	ENST00000413052.2	37	c.2806	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418635	0.25552	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	4.96	2.94	0.34122	.	0.639808	0.16269	N	0.221851	T	0.64527	0.2606	N	0.03608	-0.345	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.61955	-0.6956	10	0.13853	T	0.58	-16.1619	5.6922	0.17835	0.1056:0.2014:0.693:0.0	.	936	Q9HCE1	MOV10_HUMAN	Q	936;936;880;936;874	ENSP00000399797:E936Q;ENSP00000358659:E936Q;ENSP00000358658:E880Q;ENSP00000350028:E936Q	ENSP00000350028:E936Q	E	+	1	0	MOV10	113044371	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.520000	0.35899	2.453000	0.82957	0.467000	0.42956	GAG	MOV10	-	NULL	ENSG00000155363		0.532	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	56	0.00	0	G	NM_020963		113242848	113242848	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	C
MOV10	4343	genome.wustl.edu	37	1	113242848	113242848	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:113242848G>C	ENST00000413052.2	+	20	3196	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q	MOV10_ENST00000357443.2_Missense_Mutation_p.E936Q|MOV10_ENST00000369644.1_Missense_Mutation_p.E880Q|MOV10_ENST00000369645.1_Missense_Mutation_p.E936Q|MOV10_ENST00000468624.1_3'UTR|RP11-426L16.10_ENST00000471038.2_5'Flank	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	936	Interaction with AGO2 and APOBEC3G.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CAGATTCCTGGAGTTCTGTAA	0.532																																						dbGAP											0													59.0	60.0	59.0					1																	113242848		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2806G>C	1.37:g.113242848G>C	ENSP00000399797:p.Glu936Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	NULL	p.E936Q	ENST00000413052.2	37	c.2806	CCDS853.1	1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418635	0.25552	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	4.96	2.94	0.34122	.	0.639808	0.16269	N	0.221851	T	0.64527	0.2606	N	0.03608	-0.345	0.80722	D	1	B	0.12630	0.006	B	0.17098	0.017	T	0.61955	-0.6956	10	0.13853	T	0.58	-16.1619	5.6922	0.17835	0.1056:0.2014:0.693:0.0	.	936	Q9HCE1	MOV10_HUMAN	Q	936;936;880;936;874	ENSP00000399797:E936Q;ENSP00000358659:E936Q;ENSP00000358658:E880Q;ENSP00000350028:E936Q	ENSP00000350028:E936Q	E	+	1	0	MOV10	113044371	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.520000	0.35899	2.453000	0.82957	0.467000	0.42956	GAG	MOV10	-	NULL	ENSG00000155363		0.532	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOV10	HGNC	protein_coding	OTTHUMT00000032906.1	51	0.00	0	G	NM_020963		113242848	113242848	+1	no_errors	ENST00000357443	ensembl	human	known	69_37n	missense	61	17.57	13	SNP	1.000	C
MRE11A	4361	genome.wustl.edu	37	11	94197299	94197299	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:94197299C>T	ENST00000323929.3	-	11	1427	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	MRE11A_ENST00000323977.3_Missense_Mutation_p.R402K|MRE11A_ENST00000393241.4_Missense_Mutation_p.R402K|MIR548L_ENST00000408303.1_RNA|MRE11A_ENST00000407439.3_Missense_Mutation_p.R405K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	402					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTTTGTTCTCTATGCCTGAA	0.318								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													62.0	65.0	64.0					11																	94197299		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1205G>A	11.37:g.94197299C>T	ENSP00000325863:p.Arg402Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.R402K	ENST00000323929.3	37	c.1205	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220584	0.22457	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.96	3.1	0.35709	Mre11, DNA-binding (1);	0.090690	0.64402	N	0.000001	T	0.48352	0.1495	N	0.17248	0.465	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.002	B;B;B	0.26864	0.074;0.007;0.022	T	0.34775	-0.9815	10	0.02654	T	1	-13.2976	8.8656	0.35284	0.0:0.7694:0.0:0.2306	.	405;402;402	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	402;405;402;402	ENSP00000325863:R402K;ENSP00000385614:R405K;ENSP00000326094:R402K;ENSP00000376933:R402K	ENSP00000325863:R402K	R	-	2	0	MRE11A	93836947	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	1.991000	0.40727	0.616000	0.30141	-0.136000	0.14681	AGA	MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11	ENSG00000020922		0.318	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	52	0.00	0	C	NM_005591		94197299	94197299	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	T
MRE11A	4361	genome.wustl.edu	37	11	94197299	94197299	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:94197299C>T	ENST00000323929.3	-	11	1427	c.1205G>A	c.(1204-1206)aGa>aAa	p.R402K	MRE11A_ENST00000323977.3_Missense_Mutation_p.R402K|MRE11A_ENST00000393241.4_Missense_Mutation_p.R402K|MIR548L_ENST00000408303.1_RNA|MRE11A_ENST00000407439.3_Missense_Mutation_p.R405K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	402					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTTTGTTCTCTATGCCTGAA	0.318								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													62.0	65.0	64.0					11																	94197299		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1205G>A	11.37:g.94197299C>T	ENSP00000325863:p.Arg402Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.R402K	ENST00000323929.3	37	c.1205	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220584	0.22457	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.96	3.1	0.35709	Mre11, DNA-binding (1);	0.090690	0.64402	N	0.000001	T	0.48352	0.1495	N	0.17248	0.465	0.80722	D	1	B;B;B	0.15473	0.013;0.0;0.002	B;B;B	0.26864	0.074;0.007;0.022	T	0.34775	-0.9815	10	0.02654	T	1	-13.2976	8.8656	0.35284	0.0:0.7694:0.0:0.2306	.	405;402;402	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	K	402;405;402;402	ENSP00000325863:R402K;ENSP00000385614:R405K;ENSP00000326094:R402K;ENSP00000376933:R402K	ENSP00000325863:R402K	R	-	2	0	MRE11A	93836947	1.000000	0.71417	0.995000	0.50966	0.932000	0.56968	1.991000	0.40727	0.616000	0.30141	-0.136000	0.14681	AGA	MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11	ENSG00000020922		0.318	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	45	0.00	0	C	NM_005591		94197299	94197299	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100634334	100634334	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:100634334A>G	ENST00000379442.3	+	5	919	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E	MUC12_ENST00000536621.1_Missense_Mutation_p.K164E			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	307	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						CGTCAGTGAAAAATCAACCAC	0.557																																						dbGAP											0													150.0	130.0	136.0					7																	100634334		692	1591	2283	-	-	-	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.919A>G	7.37:g.100634334A>G	ENSP00000368755:p.Lys307Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.K307E	ENST00000379442.3	37	c.919		7	.	.	.	.	.	.	.	.	.	.	-	1.723	-0.496195	0.04291	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.713	-1.05	0.10036	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.39292	-0.9621	7	0.02654	T	1	.	2.0006	0.03466	0.4361:0.0:0.306:0.258	.	.	.	.	E	307;164	ENSP00000368755:K307E;ENSP00000441929:K164E	ENSP00000368755:K307E	K	+	1	0	MUC12	100421054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.061000	0.14366	-1.493000	0.01835	-1.160000	0.01791	AAA	MUC12	-	NULL	ENSG00000205277		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	101	0.00	0	A	XM_379904		100634334	100634334	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	0.000	G
MUC12	10071	genome.wustl.edu	37	7	100634334	100634334	+	Missense_Mutation	SNP	A	A	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:100634334A>G	ENST00000379442.3	+	5	919	c.919A>G	c.(919-921)Aaa>Gaa	p.K307E	MUC12_ENST00000536621.1_Missense_Mutation_p.K164E			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	307	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						CGTCAGTGAAAAATCAACCAC	0.557																																						dbGAP											0													150.0	130.0	136.0					7																	100634334		692	1591	2283	-	-	-	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.919A>G	7.37:g.100634334A>G	ENSP00000368755:p.Lys307Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.K307E	ENST00000379442.3	37	c.919		7	.	.	.	.	.	.	.	.	.	.	-	1.723	-0.496195	0.04291	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.713	-1.05	0.10036	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.39292	-0.9621	7	0.02654	T	1	.	2.0006	0.03466	0.4361:0.0:0.306:0.258	.	.	.	.	E	307;164	ENSP00000368755:K307E;ENSP00000441929:K164E	ENSP00000368755:K307E	K	+	1	0	MUC12	100421054	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.061000	0.14366	-1.493000	0.01835	-1.160000	0.01791	AAA	MUC12	-	NULL	ENSG00000205277		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	101	0.00	0	A	XM_379904		100634334	100634334	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	0.000	G
MUC12	10071	genome.wustl.edu	37	7	100634339	100634339	+	Silent	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:100634339A>C	ENST00000379442.3	+	5	924	c.924A>C	c.(922-924)tcA>tcC	p.S308S	MUC12_ENST00000536621.1_Silent_p.S165S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	308	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						GTGAAAAATCAACCACCTCCC	0.557																																						dbGAP											0													155.0	134.0	140.0					7																	100634339		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	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.924A>C	7.37:g.100634339A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.S308	ENST00000379442.3	37	c.924		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	100	0.00	0	A	XM_379904		100634339	100634339	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	62	27.06	23	SNP	0.000	C
MUC12	10071	genome.wustl.edu	37	7	100634339	100634339	+	Silent	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:100634339A>C	ENST00000379442.3	+	5	924	c.924A>C	c.(922-924)tcA>tcC	p.S308S	MUC12_ENST00000536621.1_Silent_p.S165S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	308	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						GTGAAAAATCAACCACCTCCC	0.557																																						dbGAP											0													155.0	134.0	140.0					7																	100634339		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	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.924A>C	7.37:g.100634339A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.S308	ENST00000379442.3	37	c.924		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.557	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	106	0.00	0	A	XM_379904		100634339	100634339	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	62	27.06	23	SNP	0.000	C
MRPS33	51650	genome.wustl.edu	37	7	140706093	140706093	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:140706093C>T	ENST00000393008.3	-	0	613				MRPS33_ENST00000469351.1_3'UTR|MRPS33_ENST00000472343.1_5'UTR|MRPS33_ENST00000324787.5_3'UTR|MRPS33_ENST00000467334.1_3'UTR|MRPS33_ENST00000496958.1_3'UTR|RP4-813F11.4_ENST00000610021.1_lincRNA	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					GATTAGATTTCACCAAGGAGA	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"""Mitochondrial ribosomal proteins / small subunits"""	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.*137G>A	7.37:g.140706093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393008.3	37	NULL	CCDS5864.1	7																																																																																			MRPS33	-	-	ENSG00000090263		0.408	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS33	HGNC	protein_coding	OTTHUMT00000348878.1	15	0.00	0	C	NM_053035		140706093	140706093	-1	no_errors	ENST00000472343	ensembl	human	putative	69_37n	rna	12	29.41	5	SNP	0.000	T
MRPS33	51650	genome.wustl.edu	37	7	140706093	140706093	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:140706093C>T	ENST00000393008.3	-	0	613				MRPS33_ENST00000469351.1_3'UTR|MRPS33_ENST00000472343.1_5'UTR|MRPS33_ENST00000324787.5_3'UTR|MRPS33_ENST00000467334.1_3'UTR|MRPS33_ENST00000496958.1_3'UTR|RP4-813F11.4_ENST00000610021.1_lincRNA	NM_016071.3	NP_057155.1	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33						translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			breast(2)|endometrium(1)|kidney(1)	4	Melanoma(164;0.00956)					GATTAGATTTCACCAAGGAGA	0.408																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF078858	CCDS5864.1	7q34	2012-09-13			ENSG00000090263	ENSG00000090263		"""Mitochondrial ribosomal proteins / small subunits"""	16634	protein-coding gene	gene with protein product		611993				11279123, 10810093	Standard	NM_016071		Approved	CGI-139	uc003vwe.4	Q9Y291	OTTHUMG00000157456	ENST00000393008.3:c.*137G>A	7.37:g.140706093C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000393008.3	37	NULL	CCDS5864.1	7																																																																																			MRPS33	-	-	ENSG00000090263		0.408	MRPS33-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MRPS33	HGNC	protein_coding	OTTHUMT00000348878.1	25	0.00	0	C	NM_053035		140706093	140706093	-1	no_errors	ENST00000472343	ensembl	human	putative	69_37n	rna	12	29.41	5	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	8993465	8993465	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:8993465C>T	ENST00000397910.4	-	66	41827	c.41624G>A	c.(41623-41625)aGa>aAa	p.R13875K	MUC16_ENST00000380951.5_Missense_Mutation_p.R516K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13878	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTGCTCTCTGTCCAGCCC	0.612																																						dbGAP											0													100.0	97.0	98.0					19																	8993465		2006	4168	6174	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41624G>A	19.37:g.8993465C>T	ENSP00000381008:p.Arg13875Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R13875K	ENST00000397910.4	37	c.41624	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.292918|4.292918	0.80914|0.80914	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.34859	.|1.34;1.34	3.61|3.61	0.308|0.308	0.15815|0.15815	.|SEA (1);	.|0.233607	.|0.22130	.|U	.|0.064218	T|T	0.45955|0.45955	0.1368|0.1368	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.38729	.|0.114;0.644	.|B;P	.|0.58577	.|0.017;0.841	T|T	0.52719|0.52719	-0.8538|-0.8538	3|7	.|.	.|.	.|.	.|.	4.9786|4.9786	0.14153|0.14153	0.0:0.5639:0.0:0.4361|0.0:0.5639:0.0:0.4361	.|.	.|21520;13875	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	K|K	715|13875;516	.|ENSP00000381008:R13875K;ENSP00000370338:R516K	.|.	E|R	-|-	1|2	0|0	MUC16|MUC16	8854465|8854465	0.008000|0.008000	0.16893|0.16893	0.317000|0.317000	0.25265|0.25265	0.918000|0.918000	0.54935|0.54935	0.360000|0.360000	0.20250|0.20250	0.327000|0.327000	0.23409|0.23409	0.557000|0.557000	0.71058|0.71058	GAG|AGA	MUC16	-	pfam_SEA	ENSG00000181143		0.612	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	117	0.00	0	C	NM_024690		8993465	8993465	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	0.238	T
MUC16	94025	genome.wustl.edu	37	19	8993465	8993465	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:8993465C>T	ENST00000397910.4	-	66	41827	c.41624G>A	c.(41623-41625)aGa>aAa	p.R13875K	MUC16_ENST00000380951.5_Missense_Mutation_p.R516K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13878	SEA 12. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGCTGCTCTCTGTCCAGCCC	0.612																																						dbGAP											0													100.0	97.0	98.0					19																	8993465		2006	4168	6174	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.41624G>A	19.37:g.8993465C>T	ENSP00000381008:p.Arg13875Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.R13875K	ENST00000397910.4	37	c.41624	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.5|22.5	4.292918|4.292918	0.80914|0.80914	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|T;T	.|0.34859	.|1.34;1.34	3.61|3.61	0.308|0.308	0.15815|0.15815	.|SEA (1);	.|0.233607	.|0.22130	.|U	.|0.064218	T|T	0.45955|0.45955	0.1368|0.1368	.|.	.|.	.|.	.|.	.|.	.|.	.|B;P	.|0.38729	.|0.114;0.644	.|B;P	.|0.58577	.|0.017;0.841	T|T	0.52719|0.52719	-0.8538|-0.8538	3|7	.|.	.|.	.|.	.|.	4.9786|4.9786	0.14153|0.14153	0.0:0.5639:0.0:0.4361|0.0:0.5639:0.0:0.4361	.|.	.|21520;13875	.|Q8WXI7;B5ME49	.|MUC16_HUMAN;.	K|K	715|13875;516	.|ENSP00000381008:R13875K;ENSP00000370338:R516K	.|.	E|R	-|-	1|2	0|0	MUC16|MUC16	8854465|8854465	0.008000|0.008000	0.16893|0.16893	0.317000|0.317000	0.25265|0.25265	0.918000|0.918000	0.54935|0.54935	0.360000|0.360000	0.20250|0.20250	0.327000|0.327000	0.23409|0.23409	0.557000|0.557000	0.71058|0.71058	GAG|AGA	MUC16	-	pfam_SEA	ENSG00000181143		0.612	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	104	0.00	0	C	NM_024690		8993465	8993465	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	80	25.23	27	SNP	0.238	T
MUC16	94025	genome.wustl.edu	37	19	9074995	9074995	+	Missense_Mutation	SNP	G	G	T	rs181375018	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:9074995G>T	ENST00000397910.4	-	3	12654	c.12451C>A	c.(12451-12453)Ccc>Acc	p.P4151T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4153	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCACAGAGGGAGGGCTTGGC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22466	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													154.0	144.0	147.0					19																	9074995		2015	4162	6177	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12451C>A	19.37:g.9074995G>T	ENSP00000381008:p.Pro4151Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P4151T	ENST00000397910.4	37	c.12451	CCDS54212.1	19	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	1.823	-0.471818	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.77	-3.55	0.04639	.	.	.	.	.	T	0.11793	0.0287	L	0.34521	1.04	.	.	.	P	0.36354	0.549	B	0.37144	0.242	T	0.10064	-1.0646	8	0.87932	D	0	.	5.3359	0.15957	0.3006:0.5046:0.1949:0.0	.	4151	B5ME49	.	T	4151	ENSP00000381008:P4151T	ENSP00000381008:P4151T	P	-	1	0	MUC16	8935995	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-2.670000	0.00844	-1.955000	0.01023	-0.802000	0.03209	CCC	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	60	0.00	0	G	NM_024690		9074995	9074995	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9074995	9074995	+	Missense_Mutation	SNP	G	G	T	rs181375018	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:9074995G>T	ENST00000397910.4	-	3	12654	c.12451C>A	c.(12451-12453)Ccc>Acc	p.P4151T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4153	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCACAGAGGGAGGGCTTGGC	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22466	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													154.0	144.0	147.0					19																	9074995		2015	4162	6177	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12451C>A	19.37:g.9074995G>T	ENSP00000381008:p.Pro4151Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.P4151T	ENST00000397910.4	37	c.12451	CCDS54212.1	19	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	g	1.823	-0.471818	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	1.77	-3.55	0.04639	.	.	.	.	.	T	0.11793	0.0287	L	0.34521	1.04	.	.	.	P	0.36354	0.549	B	0.37144	0.242	T	0.10064	-1.0646	8	0.87932	D	0	.	5.3359	0.15957	0.3006:0.5046:0.1949:0.0	.	4151	B5ME49	.	T	4151	ENSP00000381008:P4151T	ENSP00000381008:P4151T	P	-	1	0	MUC16	8935995	0.000000	0.05858	0.000000	0.03702	0.366000	0.29705	-2.670000	0.00844	-1.955000	0.01023	-0.802000	0.03209	CCC	MUC16	-	NULL	ENSG00000181143		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	64	0.00	0	G	NM_024690		9074995	9074995	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1268573	1268573	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:1268573C>G	ENST00000529681.1	+	31	10521	c.10463C>G	c.(10462-10464)tCc>tGc	p.S3488C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3491C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3488	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGAGCCTTCCACGGTGACT	0.667																																						dbGAP											0													96.0	116.0	109.0					11																	1268573		2131	4212	6343	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10463C>G	11.37:g.1268573C>G	ENSP00000436812:p.Ser3488Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3491C	ENST00000529681.1	37	c.10472	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	4.434	0.080352	0.08533	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21191	2.02;2.2	2.14	2.14	0.27477	.	.	.	.	.	T	0.35219	0.0924	L	0.53249	1.67	0.09310	N	1	P;D	0.57899	0.927;0.981	P;P	0.60886	0.88;0.712	T	0.07233	-1.0783	9	0.87932	D	0	.	10.0576	0.42255	0.0:1.0:0.0:0.0	.	4016;3491	A7Y9J9;E9PBJ0	.;.	C	3488;3491;3460;3393	ENSP00000436812:S3488C;ENSP00000415793:S3491C	ENSP00000343037:S3460C	S	+	2	0	MUC5B	1225149	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.494000	0.06451	1.240000	0.43803	0.297000	0.19635	TCC	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	103	0.00	0	C	XM_001126093		1268573	1268573	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	0.005	G
MUC5B	727897	genome.wustl.edu	37	11	1268573	1268573	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:1268573C>G	ENST00000529681.1	+	31	10521	c.10463C>G	c.(10462-10464)tCc>tGc	p.S3488C	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3491C|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3488	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACAGAGCCTTCCACGGTGACT	0.667																																						dbGAP											0													96.0	116.0	109.0					11																	1268573		2131	4212	6343	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10463C>G	11.37:g.1268573C>G	ENSP00000436812:p.Ser3488Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3491C	ENST00000529681.1	37	c.10472	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	4.434	0.080352	0.08533	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21191	2.02;2.2	2.14	2.14	0.27477	.	.	.	.	.	T	0.35219	0.0924	L	0.53249	1.67	0.09310	N	1	P;D	0.57899	0.927;0.981	P;P	0.60886	0.88;0.712	T	0.07233	-1.0783	9	0.87932	D	0	.	10.0576	0.42255	0.0:1.0:0.0:0.0	.	4016;3491	A7Y9J9;E9PBJ0	.;.	C	3488;3491;3460;3393	ENSP00000436812:S3488C;ENSP00000415793:S3491C	ENSP00000343037:S3460C	S	+	2	0	MUC5B	1225149	0.000000	0.05858	0.003000	0.11579	0.070000	0.16714	-0.494000	0.06451	1.240000	0.43803	0.297000	0.19635	TCC	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	86	0.00	0	C	XM_001126093		1268573	1268573	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	0.005	G
MXRA5	25878	genome.wustl.edu	37	X	3241061	3241061	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:3241061C>T	ENST00000217939.6	-	5	2819	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	889						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAAAGGTCATCAACAACTTCC	0.483																																						dbGAP											0													100.0	87.0	91.0					X																	3241061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2665G>A	X.37:g.3241061C>T	ENSP00000217939:p.Asp889Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D889N	ENST00000217939.6	37	c.2665	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	8.292	0.817873	0.16607	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64260	-0.09	2.81	1.92	0.25849	.	0.642001	0.12624	U	0.452805	T	0.51500	0.1678	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.53988	0.739	T	0.46400	-0.9194	10	0.72032	D	0.01	.	9.1667	0.37056	0.2162:0.7838:0.0:0.0	.	889	Q9NR99	MXRA5_HUMAN	N	889	ENSP00000217939:D889N	ENSP00000217939:D889N	D	-	1	0	MXRA5	3251061	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.151000	0.10175	0.020000	0.15106	-1.493000	0.00968	GAT	MXRA5	-	NULL	ENSG00000101825		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	47	0.00	0	C	NM_015419		3241061	3241061	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.001	T
MXRA5	25878	genome.wustl.edu	37	X	3241061	3241061	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:3241061C>T	ENST00000217939.6	-	5	2819	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	889						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAAAGGTCATCAACAACTTCC	0.483																																						dbGAP											0													100.0	87.0	91.0					X																	3241061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.2665G>A	X.37:g.3241061C>T	ENSP00000217939:p.Asp889Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.D889N	ENST00000217939.6	37	c.2665	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	8.292	0.817873	0.16607	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64260	-0.09	2.81	1.92	0.25849	.	0.642001	0.12624	U	0.452805	T	0.51500	0.1678	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.53988	0.739	T	0.46400	-0.9194	10	0.72032	D	0.01	.	9.1667	0.37056	0.2162:0.7838:0.0:0.0	.	889	Q9NR99	MXRA5_HUMAN	N	889	ENSP00000217939:D889N	ENSP00000217939:D889N	D	-	1	0	MXRA5	3251061	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.151000	0.10175	0.020000	0.15106	-1.493000	0.00968	GAT	MXRA5	-	NULL	ENSG00000101825		0.483	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	54	0.00	0	C	NM_015419		3241061	3241061	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	0.001	T
MYH1	4619	genome.wustl.edu	37	17	10399732	10399732	+	Silent	SNP	G	G	T	rs138249334	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:10399732G>T	ENST00000226207.5	-	34	4885	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1597					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACTCCACGATTCTAATGT	0.443																																						dbGAP											0													247.0	222.0	231.0					17																	10399732		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4791C>A	17.37:g.10399732G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1597	ENST00000226207.5	37	c.4791	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	92	0.00	0	G	NM_005963		10399732	10399732	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	silent	45	28.57	18	SNP	0.003	T
MYH1	4619	genome.wustl.edu	37	17	10399732	10399732	+	Silent	SNP	G	G	T	rs138249334	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:10399732G>T	ENST00000226207.5	-	34	4885	c.4791C>A	c.(4789-4791)atC>atA	p.I1597I	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1597					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGACTCCACGATTCTAATGT	0.443																																						dbGAP											0													247.0	222.0	231.0					17																	10399732		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4791C>A	17.37:g.10399732G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CA4|Q9Y622	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1597	ENST00000226207.5	37	c.4791	CCDS11155.1	17																																																																																			MYH1	-	pfam_Myosin_tail	ENSG00000109061		0.443	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	96	0.00	0	G	NM_005963		10399732	10399732	-1	no_errors	ENST00000226207	ensembl	human	known	69_37n	silent	45	28.57	18	SNP	0.003	T
MYH7	4625	genome.wustl.edu	37	14	23892757	23892757	+	Splice_Site	SNP	T	T	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:23892757T>C	ENST00000355349.3	-	24	3260	c.3098A>G	c.(3097-3099)gAt>gGt	p.D1033G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1033					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTACTCACATCATCCACTTG	0.532																																						dbGAP											0													199.0	190.0	193.0					14																	23892757		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3099+1A>G	14.37:g.23892757T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1033G	ENST00000355349.3	37	c.3098	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447721	0.84101	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.92647	-3.08	5.22	5.22	0.72569	.	.	.	.	.	D	0.97005	0.9022	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97971	1.0343	9	0.72032	D	0.01	.	15.2696	0.73689	0.0:0.0:0.0:1.0	.	1033	P12883	MYH7_HUMAN	G	1033	ENSP00000347507:D1033G	ENSP00000347507:D1033G	D	-	2	0	MYH7	22962597	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.701000	0.84566	2.196000	0.70406	0.533000	0.62120	GAT	MYH7	-	superfamily_Prefoldin	ENSG00000092054		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	70	0.00	0	T	NM_000257	Missense_Mutation	23892757	23892757	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	41	19.23	10	SNP	1.000	C
MYH7	4625	genome.wustl.edu	37	14	23892757	23892757	+	Splice_Site	SNP	T	T	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:23892757T>C	ENST00000355349.3	-	24	3260	c.3098A>G	c.(3097-3099)gAt>gGt	p.D1033G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1033					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTACTCACATCATCCACTTG	0.532																																						dbGAP											0													199.0	190.0	193.0					14																	23892757		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3099+1A>G	14.37:g.23892757T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1033G	ENST00000355349.3	37	c.3098	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447721	0.84101	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.92647	-3.08	5.22	5.22	0.72569	.	.	.	.	.	D	0.97005	0.9022	M	0.93939	3.475	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97971	1.0343	9	0.72032	D	0.01	.	15.2696	0.73689	0.0:0.0:0.0:1.0	.	1033	P12883	MYH7_HUMAN	G	1033	ENSP00000347507:D1033G	ENSP00000347507:D1033G	D	-	2	0	MYH7	22962597	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.701000	0.84566	2.196000	0.70406	0.533000	0.62120	GAT	MYH7	-	superfamily_Prefoldin	ENSG00000092054		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	78	0.00	0	T	NM_000257	Missense_Mutation	23892757	23892757	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	41	19.23	10	SNP	1.000	C
MYO15A	51168	genome.wustl.edu	37	17	18022927	18022927	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:18022927G>C	ENST00000205890.5	+	2	1151	c.813G>C	c.(811-813)tgG>tgC	p.W271C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	271					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCGGCCTGGCCACCCTACG	0.657																																						dbGAP											0													28.0	35.0	33.0					17																	18022927		2027	4164	6191	-	-	-	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.813G>C	17.37:g.18022927G>C	ENSP00000205890:p.Trp271Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.W271C	ENST00000205890.5	37	c.813	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832893	0.32421	.	.	ENSG00000091536	ENST00000205890	D	0.88046	-2.33	5.67	5.67	0.87782	.	.	.	.	.	D	0.84401	0.5464	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.54270	0.747	D	0.84097	0.0393	9	0.52906	T	0.07	.	8.3456	0.32270	0.0818:0.1579:0.7603:0.0	.	271	Q9UKN7	MYO15_HUMAN	C	271	ENSP00000205890:W271C	ENSP00000205890:W271C	W	+	3	0	MYO15A	17963652	0.837000	0.29446	1.000000	0.80357	0.079000	0.17450	2.878000	0.48515	2.676000	0.91093	0.561000	0.74099	TGG	MYO15A	-	NULL	ENSG00000091536		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	32	0.00	0	G	NM_016239		18022927	18022927	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.988	C
MYO15A	51168	genome.wustl.edu	37	17	18022927	18022927	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:18022927G>C	ENST00000205890.5	+	2	1151	c.813G>C	c.(811-813)tgG>tgC	p.W271C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	271					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCCGGCCTGGCCACCCTACG	0.657																																						dbGAP											0													28.0	35.0	33.0					17																	18022927		2027	4164	6191	-	-	-	SO:0001583	missense	0			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.813G>C	17.37:g.18022927G>C	ENSP00000205890:p.Trp271Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.W271C	ENST00000205890.5	37	c.813	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832893	0.32421	.	.	ENSG00000091536	ENST00000205890	D	0.88046	-2.33	5.67	5.67	0.87782	.	.	.	.	.	D	0.84401	0.5464	L	0.27053	0.805	0.80722	D	1	D	0.65815	0.995	P	0.54270	0.747	D	0.84097	0.0393	9	0.52906	T	0.07	.	8.3456	0.32270	0.0818:0.1579:0.7603:0.0	.	271	Q9UKN7	MYO15_HUMAN	C	271	ENSP00000205890:W271C	ENSP00000205890:W271C	W	+	3	0	MYO15A	17963652	0.837000	0.29446	1.000000	0.80357	0.079000	0.17450	2.878000	0.48515	2.676000	0.91093	0.561000	0.74099	TGG	MYO15A	-	NULL	ENSG00000091536		0.657	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	30	0.00	0	G	NM_016239		18022927	18022927	+1	no_errors	ENST00000205890	ensembl	human	known	69_37n	missense	12	36.84	7	SNP	0.988	C
MYO7B	4648	genome.wustl.edu	37	2	128384592	128384592	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:128384592G>C	ENST00000409816.2	+	30	4212	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	MYO7B_ENST00000409090.1_Missense_Mutation_p.E247Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1394Q|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.E1394Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1394	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCGTGCGAGAGCAGGTGGT	0.622																																						dbGAP											0													21.0	25.0	24.0					2																	128384592		2001	4171	6172	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4180G>C	2.37:g.128384592G>C	ENSP00000386461:p.Glu1394Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E1394Q	ENST00000409816.2	37	c.4180	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	15.33	2.802772	0.50315	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	4.88	3.98	0.46160	Band 4.1 domain (1);FERM domain (1);	0.121494	0.56097	N	0.000036	D	0.92182	0.7521	M	0.84948	2.725	0.45580	D	0.998524	B	0.17268	0.021	B	0.14578	0.011	D	0.89995	0.4110	10	0.39692	T	0.17	.	15.1267	0.72489	0.0:0.1421:0.8579:0.0	.	1394	Q6PIF6	MYO7B_HUMAN	Q	1394;1394;247;1394;247	ENSP00000374175:E1394Q;ENSP00000415090:E1394Q;ENSP00000386461:E1394Q;ENSP00000386850:E247Q	ENSP00000272666:E247Q	E	+	1	0	MYO7B	128101062	1.000000	0.71417	0.913000	0.36048	0.407000	0.30961	5.750000	0.68712	1.272000	0.44329	0.556000	0.70494	GAG	MYO7B	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169994		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	74	0.00	0	G	XM_291001		128384592	128384592	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	1.000	C
MYO7B	4648	genome.wustl.edu	37	2	128384592	128384592	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:128384592G>C	ENST00000409816.2	+	30	4212	c.4180G>C	c.(4180-4182)Gag>Cag	p.E1394Q	MYO7B_ENST00000409090.1_Missense_Mutation_p.E247Q|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1394Q|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000389524.4_Missense_Mutation_p.E1394Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1394	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGCCGTGCGAGAGCAGGTGGT	0.622																																						dbGAP											0													21.0	25.0	24.0					2																	128384592		2001	4171	6172	-	-	-	SO:0001583	missense	0				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4180G>C	2.37:g.128384592G>C	ENSP00000386461:p.Glu1394Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14786|Q8TEE1	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E1394Q	ENST00000409816.2	37	c.4180	CCDS46405.1	2	.	.	.	.	.	.	.	.	.	.	g	15.33	2.802772	0.50315	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01	4.88	3.98	0.46160	Band 4.1 domain (1);FERM domain (1);	0.121494	0.56097	N	0.000036	D	0.92182	0.7521	M	0.84948	2.725	0.45580	D	0.998524	B	0.17268	0.021	B	0.14578	0.011	D	0.89995	0.4110	10	0.39692	T	0.17	.	15.1267	0.72489	0.0:0.1421:0.8579:0.0	.	1394	Q6PIF6	MYO7B_HUMAN	Q	1394;1394;247;1394;247	ENSP00000374175:E1394Q;ENSP00000415090:E1394Q;ENSP00000386461:E1394Q;ENSP00000386850:E247Q	ENSP00000272666:E247Q	E	+	1	0	MYO7B	128101062	1.000000	0.71417	0.913000	0.36048	0.407000	0.30961	5.750000	0.68712	1.272000	0.44329	0.556000	0.70494	GAG	MYO7B	-	smart_Band_41_domain,pfscan_FERM_domain	ENSG00000169994		0.622	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	59	0.00	0	G	XM_291001		128384592	128384592	+1	no_errors	ENST00000389524	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	1.000	C
N4BP2	55728	genome.wustl.edu	37	4	40121932	40121934	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:40121932_40121934delAAG	ENST00000261435.6	+	9	2617_2619	c.2201_2203delAAG	c.(2200-2205)caagaa>caa	p.E735del		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	735					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAAATAATCAAGAAGACTGTGA	0.379																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2201_2203delAAG	4.37:g.40121935_40121937delAAG	ENSP00000261435:p.Glu735del	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR3|Q9NVK2|Q9P2D4	In_Frame_Del	DEL	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E735in_frame_del	ENST00000261435.6	37	c.2201_2203	CCDS3457.1	4																																																																																			N4BP2	-	NULL	ENSG00000078177		0.379	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	9	0.00	0	AAG	NM_018177		40121932	40121934	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	in_frame_del	7	46.15	6	DEL	0.263:0.258:0.291	-
N4BP2	55728	genome.wustl.edu	37	4	40121932	40121934	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:40121932_40121934delAAG	ENST00000261435.6	+	9	2617_2619	c.2201_2203delAAG	c.(2200-2205)caagaa>caa	p.E735del		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	735					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAAAATAATCAAGAAGACTGTGA	0.379																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.2201_2203delAAG	4.37:g.40121935_40121937delAAG	ENSP00000261435:p.Glu735del	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR3|Q9NVK2|Q9P2D4	In_Frame_Del	DEL	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E735in_frame_del	ENST00000261435.6	37	c.2201_2203	CCDS3457.1	4																																																																																			N4BP2	-	NULL	ENSG00000078177		0.379	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	17	0.00	0	AAG	NM_018177		40121932	40121934	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	in_frame_del	7	46.15	6	DEL	0.263:0.258:0.291	-
NAIF1	203245	genome.wustl.edu	37	9	130826063	130826063	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:130826063C>G	ENST00000373078.4	-	2	847	c.628G>C	c.(628-630)Gac>Cac	p.D210H	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	210					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCGACGTGTCTGCATGCTGG	0.617																																						dbGAP											0													110.0	105.0	107.0					9																	130826063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.628G>C	9.37:g.130826063C>G	ENSP00000362170:p.Asp210His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV81|Q8WU12	Missense_Mutation	SNP	NULL	p.D210H	ENST00000373078.4	37	c.628	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870281	0.17322	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.16	5.16	0.70880	.	0.171172	0.49305	D	0.000150	T	0.26882	0.0658	N	0.14661	0.345	0.19300	N	0.999976	P	0.39964	0.697	B	0.38562	0.276	T	0.25433	-1.0132	9	0.66056	D	0.02	-18.9476	17.6037	0.88032	0.0:1.0:0.0:0.0	.	210	Q69YI7	NAIF1_HUMAN	H	210	.	ENSP00000362170:D210H	D	-	1	0	NAIF1	129865884	0.984000	0.35163	0.051000	0.19133	0.014000	0.08584	2.712000	0.47186	2.392000	0.81423	0.563000	0.77884	GAC	NAIF1	-	NULL	ENSG00000171169		0.617	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	50	0.00	0	C	NM_197956		130826063	130826063	-1	no_errors	ENST00000373078	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.211	G
NAIF1	203245	genome.wustl.edu	37	9	130826063	130826063	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:130826063C>G	ENST00000373078.4	-	2	847	c.628G>C	c.(628-630)Gac>Cac	p.D210H	NAIF1_ENST00000488519.1_5'UTR	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	210					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACCGACGTGTCTGCATGCTGG	0.617																																						dbGAP											0													110.0	105.0	107.0					9																	130826063		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.628G>C	9.37:g.130826063C>G	ENSP00000362170:p.Asp210His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV81|Q8WU12	Missense_Mutation	SNP	NULL	p.D210H	ENST00000373078.4	37	c.628	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	8.528	0.870281	0.17322	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.16	5.16	0.70880	.	0.171172	0.49305	D	0.000150	T	0.26882	0.0658	N	0.14661	0.345	0.19300	N	0.999976	P	0.39964	0.697	B	0.38562	0.276	T	0.25433	-1.0132	9	0.66056	D	0.02	-18.9476	17.6037	0.88032	0.0:1.0:0.0:0.0	.	210	Q69YI7	NAIF1_HUMAN	H	210	.	ENSP00000362170:D210H	D	-	1	0	NAIF1	129865884	0.984000	0.35163	0.051000	0.19133	0.014000	0.08584	2.712000	0.47186	2.392000	0.81423	0.563000	0.77884	GAC	NAIF1	-	NULL	ENSG00000171169		0.617	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	46	0.00	0	C	NM_197956		130826063	130826063	-1	no_errors	ENST00000373078	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	0.211	G
NCAPD2	9918	genome.wustl.edu	37	12	6631181	6631181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:6631181G>C	ENST00000315579.5	+	15	2731	c.1932G>C	c.(1930-1932)atG>atC	p.M644I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.M599I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	644					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCAGCAAGATGATGTATGAAA	0.398																																						dbGAP											0													79.0	81.0	80.0					12																	6631181		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1932G>C	12.37:g.6631181G>C	ENSP00000325017:p.Met644Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.M644I	ENST00000315579.5	37	c.1932	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303462	0.81136	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.11604	2.76;2.76;2.76	5.88	5.88	0.94601	Armadillo-type fold (1);	0.037266	0.85682	D	0.000000	T	0.20129	0.0484	L	0.54323	1.7	0.80722	D	1	P;P;P	0.44260	0.749;0.83;0.633	B;P;B	0.45681	0.441;0.49;0.184	T	0.00085	-1.2098	10	0.72032	D	0.01	-35.3904	20.2422	0.98381	0.0:0.0:1.0:0.0	.	599;605;644	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	I	644;516;599;516	ENSP00000325017:M644I;ENSP00000371895:M516I;ENSP00000444417:M599I	ENSP00000325017:M644I	M	+	3	0	NCAPD2	6501442	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.685000	0.91246	2.782000	0.95742	0.655000	0.94253	ATG	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.398	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	48	0.00	0	G	NM_014865		6631181	6631181	+1	no_errors	ENST00000315579	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	C
NCAPD2	9918	genome.wustl.edu	37	12	6631181	6631181	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:6631181G>C	ENST00000315579.5	+	15	2731	c.1932G>C	c.(1930-1932)atG>atC	p.M644I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.M599I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	644					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|condensin core heterodimer (GO:0000797)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|pronucleus (GO:0045120)	histone binding (GO:0042393)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCAGCAAGATGATGTATGAAA	0.398																																						dbGAP											0													79.0	81.0	80.0					12																	6631181		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63880	CCDS8548.1	12p13.31	2008-02-04			ENSG00000010292	ENSG00000010292			24305	protein-coding gene	gene with protein product	"""chromosome condensation related SMC associated protein 1"""	615638				8590280, 10958694	Standard	NM_014865		Approved	CNAP1, hCAP-D2, CAP-D2, KIAA0159	uc001qoo.2	Q15021	OTTHUMG00000168513	ENST00000315579.5:c.1932G>C	12.37:g.6631181G>C	ENSP00000325017:p.Met644Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUR4|Q8N6U3	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	p.M644I	ENST00000315579.5	37	c.1932	CCDS8548.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303462	0.81136	.	.	ENSG00000010292	ENST00000315579;ENST00000382457;ENST00000545962;ENST00000535602	T;T;T	0.11604	2.76;2.76;2.76	5.88	5.88	0.94601	Armadillo-type fold (1);	0.037266	0.85682	D	0.000000	T	0.20129	0.0484	L	0.54323	1.7	0.80722	D	1	P;P;P	0.44260	0.749;0.83;0.633	B;P;B	0.45681	0.441;0.49;0.184	T	0.00085	-1.2098	10	0.72032	D	0.01	-35.3904	20.2422	0.98381	0.0:0.0:1.0:0.0	.	599;605;644	F5GZJ1;B3KY03;Q15021	.;.;CND1_HUMAN	I	644;516;599;516	ENSP00000325017:M644I;ENSP00000371895:M516I;ENSP00000444417:M599I	ENSP00000325017:M644I	M	+	3	0	NCAPD2	6501442	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.685000	0.91246	2.782000	0.95742	0.655000	0.94253	ATG	NCAPD2	-	superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1	ENSG00000010292		0.398	NCAPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPD2	HGNC	protein_coding	OTTHUMT00000399964.1	33	0.00	0	G	NM_014865		6631181	6631181	+1	no_errors	ENST00000315579	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	C
NCKAP5L	57701	genome.wustl.edu	37	12	50189617	50189617	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:50189617C>T	ENST00000335999.6	-	8	2227	c.2026G>A	c.(2026-2028)Gag>Aag	p.E676K		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	672										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						AGGGCCCCCTCGGGGCCTGTC	0.672																																						dbGAP											0													7.0	8.0	8.0					12																	50189617		1792	4017	5809	-	-	-	SO:0001583	missense	0			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2026G>A	12.37:g.50189617C>T	ENSP00000337998:p.Glu676Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	NULL	p.E676K	ENST00000335999.6	37	c.2026	CCDS41781.2	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.81|19.81	3.897253|3.897253	0.72639|0.72639	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.50001|.	0.76|.	4.31|4.31	4.31|4.31	0.51392|0.51392	.|.	0.000000|.	0.47093|.	D|.	0.000252|.	T|T	0.58308|0.58308	0.2113|0.2113	L|L	0.40543|0.40543	1.245|1.245	0.48830|0.48830	D|D	0.999718|0.999718	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.996|.	T|T	0.54886|0.54886	-0.8226|-0.8226	10|5	0.22109|.	T|.	0.4|.	-24.0017|-24.0017	14.1633|14.1633	0.65461|0.65461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	672;672|.	E2QRB5;Q9HCH0-2|.	.;.|.	K|Q	676;672|390	ENSP00000337998:E676K|.	ENSP00000337998:E676K|.	E|R	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48475884|48475884	0.972000|0.972000	0.33761|0.33761	0.980000|0.980000	0.43619|0.43619	0.865000|0.865000	0.49528|0.49528	4.175000|4.175000	0.58263|0.58263	2.400000|2.400000	0.81607|0.81607	0.561000|0.561000	0.74099|0.74099	GAG|CGA	NCKAP5L	-	NULL	ENSG00000167566		0.672	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2	54	0.00	0	C	XM_035497		50189617	50189617	-1	no_errors	ENST00000335999	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	0.996	T
MYH11	4629	genome.wustl.edu	37	16	15818991	15818992	+	Intron	INS	-	-	A	rs60544332		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:15818991_15818992insA	ENST00000300036.5	-	29	3968				MYH11_ENST00000452625.2_Intron|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396354.1_3'UTR|AF001548.5_ENST00000574212.1_RNA|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000396324.3_Intron|NDE1_ENST00000571896.1_3'UTR|MYH11_ENST00000576790.2_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						GGGACTCTGATAAAAAAAAAAA	0.441			T	CBFB	AML																																	dbGAP		Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0																																										-	-	-	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.3859-142->T	16.37:g.15819002_15819002dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	RNA	INS	-	NULL	ENST00000300036.5	37	NULL	CCDS10565.1	16																																																																																			NDE1	-	-	ENSG00000072864		0.441	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDE1	HGNC	protein_coding	OTTHUMT00000252192.2	10	0.00	0	-	NM_001040113		15818991	15818992	+1	no_errors	ENST00000571896	ensembl	human	known	69_37n	rna	11	26.67	4	INS	0.000:0.000	A
NEFL	4747	genome.wustl.edu	37	8	24813739	24813739	+	RNA	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:24813739G>C	ENST00000221169.5	-	0	885				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCGGTCATTGAGGTCCTGGA	0.627																																						dbGAP											0													32.0	34.0	33.0					8																	24813739		2164	4276	6440	-	-	-			0				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813739G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-	ENSG00000104725		0.627	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	114	0.00	0	G	NM_006158		24813739	24813739	-1	no_errors	ENST00000221169	ensembl	human	known	69_37n	rna	59	19.18	14	SNP	1.000	C
NEFL	4747	genome.wustl.edu	37	8	24813739	24813739	+	RNA	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:24813739G>C	ENST00000221169.5	-	0	885				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGCGGTCATTGAGGTCCTGGA	0.627																																						dbGAP											0													32.0	34.0	33.0					8																	24813739		2164	4276	6440	-	-	-			0				CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24813739G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVN2|Q16154|Q8IU72	RNA	SNP	-	NULL	ENST00000221169.5	37	NULL		8																																																																																			NEFL	-	-	ENSG00000104725		0.627	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	NEFL	HGNC	processed_transcript	OTTHUMT00000258943.4	84	0.00	0	G	NM_006158		24813739	24813739	-1	no_errors	ENST00000221169	ensembl	human	known	69_37n	rna	59	19.18	14	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69703977	69703977	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:69703977G>A	ENST00000354436.2	+	7	1731	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	NFAT5_ENST00000566899.1_Silent_p.L395L|NFAT5_ENST00000567239.1_Silent_p.L489L|NFAT5_ENST00000432919.1_Silent_p.L489L|NFAT5_ENST00000393742.2_Silent_p.L395L|NFAT5_ENST00000349945.1_Silent_p.L395L	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	471					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACTTTCTGAAAGGAACTA	0.358																																						dbGAP											0													57.0	59.0	58.0					16																	69703977		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1413G>A	16.37:g.69703977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L489	ENST00000354436.2	37	c.1467	CCDS10881.1	16																																																																																			NFAT5	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT	ENSG00000102908		0.358	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	64	0.00	0	G	NM_138714		69703977	69703977	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	silent	25	39.02	16	SNP	0.990	A
NFAT5	10725	genome.wustl.edu	37	16	69703977	69703977	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:69703977G>A	ENST00000354436.2	+	7	1731	c.1413G>A	c.(1411-1413)ctG>ctA	p.L471L	NFAT5_ENST00000566899.1_Silent_p.L395L|NFAT5_ENST00000567239.1_Silent_p.L489L|NFAT5_ENST00000432919.1_Silent_p.L489L|NFAT5_ENST00000393742.2_Silent_p.L395L|NFAT5_ENST00000349945.1_Silent_p.L395L	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	471					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACTTTCTGAAAGGAACTA	0.358																																						dbGAP											0													57.0	59.0	58.0					16																	69703977		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1413G>A	16.37:g.69703977G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.L489	ENST00000354436.2	37	c.1467	CCDS10881.1	16																																																																																			NFAT5	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt,prints_NFAT	ENSG00000102908		0.358	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	59	0.00	0	G	NM_138714		69703977	69703977	+1	no_errors	ENST00000432919	ensembl	human	known	69_37n	silent	25	39.02	16	SNP	0.990	A
NGEF	25791	genome.wustl.edu	37	2	233785116	233785116	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:233785116G>A	ENST00000264051.3	-	5	984	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	NGEF_ENST00000409079.1_Silent_p.L144L|NGEF_ENST00000373552.4_Silent_p.L144L	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	236	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATCTGGGGCAGAGTCTTCCTC	0.612																																						dbGAP											0													65.0	69.0	68.0					2																	233785116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.706C>T	2.37:g.233785116G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L236	ENST00000264051.3	37	c.706	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	72	0.00	0	G	XM_044799		233785116	233785116	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.993	A
NGEF	25791	genome.wustl.edu	37	2	233785116	233785116	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:233785116G>A	ENST00000264051.3	-	5	984	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	NGEF_ENST00000409079.1_Silent_p.L144L|NGEF_ENST00000373552.4_Silent_p.L144L	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	236	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		ATCTGGGGCAGAGTCTTCCTC	0.612																																						dbGAP											0													65.0	69.0	68.0					2																	233785116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.706C>T	2.37:g.233785116G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.L236	ENST00000264051.3	37	c.706	CCDS2500.1	2																																																																																			NGEF	-	NULL	ENSG00000066248		0.612	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	HGNC	protein_coding	OTTHUMT00000257051.2	53	0.00	0	G	XM_044799		233785116	233785116	-1	no_errors	ENST00000264051	ensembl	human	known	69_37n	silent	37	19.57	9	SNP	0.993	A
NOL6	65083	genome.wustl.edu	37	9	33462162	33462162	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:33462162C>T	ENST00000379471.2	-	0	3129				NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTCCACTGCTCAGTGTCGGTG	0.517																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.*18G>A	9.37:g.33462162C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.E1015K	ENST00000379471.2	37	c.3043		9	.	.	.	.	.	.	.	.	.	.	C	9.213	1.031328	0.19590	.	.	ENSG00000165271	ENST00000379471	.	.	.	3.83	1.99	0.26369	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35126	-0.9801	5	0.87932	D	0	.	5.8857	0.18880	0.0:0.7619:0.0:0.2381	.	.	.	.	K	1015	.	ENSP00000368784:E1015K	E	-	1	0	NOL6	33452162	0.000000	0.05858	0.023000	0.16930	0.228000	0.25075	-0.060000	0.11712	0.599000	0.29845	0.563000	0.77884	GAG	NOL6	-	NULL	ENSG00000165271		0.517	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	74	0.00	0	C	NM_022917		33462162	33462162	-1	no_errors	ENST00000379471	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.026	T
NOL6	65083	genome.wustl.edu	37	9	33462162	33462162	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:33462162C>T	ENST00000379471.2	-	0	3129				NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TTCCACTGCTCAGTGTCGGTG	0.517																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.*18G>A	9.37:g.33462162C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	pfam_Nrap	p.E1015K	ENST00000379471.2	37	c.3043		9	.	.	.	.	.	.	.	.	.	.	C	9.213	1.031328	0.19590	.	.	ENSG00000165271	ENST00000379471	.	.	.	3.83	1.99	0.26369	.	.	.	.	.	T	0.40040	0.1101	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35126	-0.9801	5	0.87932	D	0	.	5.8857	0.18880	0.0:0.7619:0.0:0.2381	.	.	.	.	K	1015	.	ENSP00000368784:E1015K	E	-	1	0	NOL6	33452162	0.000000	0.05858	0.023000	0.16930	0.228000	0.25075	-0.060000	0.11712	0.599000	0.29845	0.563000	0.77884	GAG	NOL6	-	NULL	ENSG00000165271		0.517	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	NOL6	HGNC	protein_coding	OTTHUMT00000001019.2	52	0.00	0	C	NM_022917		33462162	33462162	-1	no_errors	ENST00000379471	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.026	T
NOP58	51602	genome.wustl.edu	37	2	203162217	203162217	+	Missense_Mutation	SNP	G	G	C	rs201308876		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:203162217G>C	ENST00000264279.5	+	11	1413	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	396	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GCCAGGTTGAGAACTTTGGAA	0.398																																						dbGAP											0													92.0	89.0	90.0					2																	203162217		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1187G>C	2.37:g.203162217G>C	ENSP00000264279:p.Arg396Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.R396T	ENST00000264279.5	37	c.1187	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	g	31	5.078867	0.94050	.	.	ENSG00000055044	ENST00000264279	T	0.65549	-0.16	5.91	5.91	0.95273	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.043296	0.85682	D	0.000000	T	0.80869	0.4706	H	0.94462	3.54	0.80722	D	1	B	0.34290	0.447	B	0.44044	0.439	T	0.82725	-0.0315	10	0.59425	D	0.04	-17.7241	20.2862	0.98536	0.0:0.0:1.0:0.0	.	396	Q9Y2X3	NOP58_HUMAN	T	396	ENSP00000264279:R396T	ENSP00000264279:R396T	R	+	2	0	NOP58	202870462	1.000000	0.71417	0.975000	0.42487	0.999000	0.98932	9.542000	0.98086	2.785000	0.95823	0.637000	0.83480	AGA	NOP58	-	pfam_SnoRNA-bd_dom	ENSG00000055044		0.398	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	36	0.00	0	G	NM_015934		203162217	203162217	+1	no_errors	ENST00000264279	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	C
NOP58	51602	genome.wustl.edu	37	2	203162217	203162217	+	Missense_Mutation	SNP	G	G	C	rs201308876		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:203162217G>C	ENST00000264279.5	+	11	1413	c.1187G>C	c.(1186-1188)aGa>aCa	p.R396T		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	396	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						GCCAGGTTGAGAACTTTGGAA	0.398																																						dbGAP											0													92.0	89.0	90.0					2																	203162217		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.1187G>C	2.37:g.203162217G>C	ENSP00000264279:p.Arg396Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC	p.R396T	ENST00000264279.5	37	c.1187	CCDS2353.1	2	.	.	.	.	.	.	.	.	.	.	g	31	5.078867	0.94050	.	.	ENSG00000055044	ENST00000264279	T	0.65549	-0.16	5.91	5.91	0.95273	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.043296	0.85682	D	0.000000	T	0.80869	0.4706	H	0.94462	3.54	0.80722	D	1	B	0.34290	0.447	B	0.44044	0.439	T	0.82725	-0.0315	10	0.59425	D	0.04	-17.7241	20.2862	0.98536	0.0:0.0:1.0:0.0	.	396	Q9Y2X3	NOP58_HUMAN	T	396	ENSP00000264279:R396T	ENSP00000264279:R396T	R	+	2	0	NOP58	202870462	1.000000	0.71417	0.975000	0.42487	0.999000	0.98932	9.542000	0.98086	2.785000	0.95823	0.637000	0.83480	AGA	NOP58	-	pfam_SnoRNA-bd_dom	ENSG00000055044		0.398	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP58	HGNC	protein_coding	OTTHUMT00000256313.2	24	0.00	0	G	NM_015934		203162217	203162217	+1	no_errors	ENST00000264279	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	1.000	C
NOS1AP	9722	genome.wustl.edu	37	1	162330676	162330676	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:162330676G>A	ENST00000361897.5	+	8	1341				NOS1AP_ENST00000493151.1_5'Flank|NOS1AP_ENST00000530878.1_Intron	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein						regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ACTTCAGCCTGGCCCTGCCCT	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.939+3750G>A	1.37:g.162330676G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.L333	ENST00000361897.5	37	c.999	CCDS1237.1	1																																																																																			NOS1AP	-	NULL	ENSG00000198929		0.597	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	123	0.00	0	G	NM_014697		162330676	162330676	+1	no_errors	ENST00000430120	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	1.000	A
NOS1AP	9722	genome.wustl.edu	37	1	162330676	162330676	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:162330676G>A	ENST00000361897.5	+	8	1341				NOS1AP_ENST00000493151.1_5'Flank|NOS1AP_ENST00000530878.1_Intron	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein						regulation of apoptotic process (GO:0042981)|regulation of nitric oxide biosynthetic process (GO:0045428)|regulation of nitric-oxide synthase activity (GO:0050999)		nitric-oxide synthase binding (GO:0050998)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			ACTTCAGCCTGGCCCTGCCCT	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB007933	CCDS1237.1, CCDS44267.1, CCDS53421.1	1q23.3	2010-08-20			ENSG00000198929	ENSG00000198929			16859	protein-coding gene	gene with protein product	"""C-terminal PDZ domain ligand of neuronal nitric oxide synthase"""	605551				9455484, 9459447	Standard	NM_001126060		Approved	KIAA0464, CAPON	uc001gbv.2	O75052	OTTHUMG00000024049	ENST00000361897.5:c.939+3750G>A	1.37:g.162330676G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZLF5|O43564|Q3T551|Q5VU95	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.L333	ENST00000361897.5	37	c.999	CCDS1237.1	1																																																																																			NOS1AP	-	NULL	ENSG00000198929		0.597	NOS1AP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOS1AP	HGNC	protein_coding	OTTHUMT00000060555.2	104	0.00	0	G	NM_014697		162330676	162330676	+1	no_errors	ENST00000430120	ensembl	human	known	69_37n	silent	80	12.09	11	SNP	1.000	A
NOS3	4846	genome.wustl.edu	37	7	150704043	150704043	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:150704043G>A	ENST00000297494.3	+	16	2244	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	NOS3_ENST00000461406.1_Silent_p.K423K	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCGGCGGAAGAGGAAGGAGT	0.592																																						dbGAP											0													94.0	90.0	91.0					7																	150704043		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1887G>A	7.37:g.150704043G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.K629	ENST00000297494.3	37	c.1887	CCDS5912.1	7																																																																																			NOS3	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth	ENSG00000164867		0.592	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	47	0.00	0	G	NM_000603		150704043	150704043	+1	no_errors	ENST00000297494	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.998	A
NOS3	4846	genome.wustl.edu	37	7	150704043	150704043	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:150704043G>A	ENST00000297494.3	+	16	2244	c.1887G>A	c.(1885-1887)aaG>aaA	p.K629K	NOS3_ENST00000461406.1_Silent_p.K423K	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCGGCGGAAGAGGAAGGAGT	0.592																																						dbGAP											0													94.0	90.0	91.0					7																	150704043		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1887G>A	7.37:g.150704043G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q495E5	Silent	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.K629	ENST00000297494.3	37	c.1887	CCDS5912.1	7																																																																																			NOS3	-	pfam_Flavodoxin/NO_synth,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth	ENSG00000164867		0.592	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	41	0.00	0	G	NM_000603		150704043	150704043	+1	no_errors	ENST00000297494	ensembl	human	known	69_37n	silent	17	37.04	10	SNP	0.998	A
NR1H3	10062	genome.wustl.edu	37	11	47281033	47281033	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:47281033G>A	ENST00000467728.1	+	1	1281				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000481889.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTTGCTGCTAGAGAGTTGGCC	0.562											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+223G>A	11.37:g.47281033G>A		Somatic	945	WXS	Illumina GAIIx	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	NULL	p.*55	ENST00000467728.1	37	c.165	CCDS7929.1	11																																																																																			NR1H3	-	NULL	ENSG00000025434		0.562	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	50	0.00	0	G			47281033	47281033	+1	no_errors	ENST00000419652	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	0.000	A
NR1H3	10062	genome.wustl.edu	37	11	47281033	47281033	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:47281033G>A	ENST00000467728.1	+	1	1281				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000481889.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TTTGCTGCTAGAGAGTTGGCC	0.562											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+223G>A	11.37:g.47281033G>A		Somatic	945	WXS	Illumina GAIIx	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Silent	SNP	NULL	p.*55	ENST00000467728.1	37	c.165	CCDS7929.1	11																																																																																			NR1H3	-	NULL	ENSG00000025434		0.562	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	54	0.00	0	G			47281033	47281033	+1	no_errors	ENST00000419652	ensembl	human	known	69_37n	silent	29	21.62	8	SNP	0.000	A
NR1H3	10062	genome.wustl.edu	37	11	47281069	47281069	+	Intron	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:47281069T>A	ENST00000467728.1	+	1	1281				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000481889.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTGCTCTGGCTTTGAAGAGTT	0.512											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+259T>A	11.37:g.47281069T>A		Somatic	945	WXS	Illumina GAIIx	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	RNA	SNP	-	NULL	ENST00000467728.1	37	NULL	CCDS7929.1	11																																																																																			NR1H3	-	-	ENSG00000025434		0.512	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	46	0.00	0	T			47281069	47281069	+1	no_errors	ENST00000473222	ensembl	human	known	69_37n	rna	26	25.71	9	SNP	0.008	A
NR1H3	10062	genome.wustl.edu	37	11	47281069	47281069	+	Intron	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:47281069T>A	ENST00000467728.1	+	1	1281				NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000441012.2_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000481889.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CTGCTCTGGCTTTGAAGAGTT	0.512											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+259T>A	11.37:g.47281069T>A		Somatic	945	WXS	Illumina GAIIx	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	RNA	SNP	-	NULL	ENST00000467728.1	37	NULL	CCDS7929.1	11																																																																																			NR1H3	-	-	ENSG00000025434		0.512	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	49	0.00	0	T			47281069	47281069	+1	no_errors	ENST00000473222	ensembl	human	known	69_37n	rna	26	25.71	9	SNP	0.008	A
NR3C2	4306	genome.wustl.edu	37	4	149002580	149002580	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:149002580G>A	ENST00000358102.3	-	9	3232	c.2870C>T	c.(2869-2871)cCc>cTc	p.P957L	NR3C2_ENST00000512865.1_Missense_Mutation_p.P840L|NR3C2_ENST00000355292.3_Missense_Mutation_p.P961L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P961L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P957L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	957	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CAGCATTGCGGGGAACTCTAC	0.602																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													64.0	60.0	61.0					4																	149002580		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2870C>T	4.37:g.149002580G>A	ENSP00000350815:p.Pro957Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P961L	ENST00000358102.3	37	c.2882	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.174598	0.94807	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98162	1.0447	9	.	.	.	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	840;957	B0ZBF5;B0ZBF6	.;.	L	957;961;957;840;961	ENSP00000341390:P957L;ENSP00000347441:P961L;ENSP00000350815:P957L;ENSP00000423510:P840L;ENSP00000421481:P961L	.	P	-	2	0	NR3C2	149222030	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.845000	0.99498	2.770000	0.95276	0.650000	0.86243	CCC	NR3C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000151623		0.602	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	38	0.00	0	G			149002580	149002580	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	A
NR3C2	4306	genome.wustl.edu	37	4	149002580	149002580	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:149002580G>A	ENST00000358102.3	-	9	3232	c.2870C>T	c.(2869-2871)cCc>cTc	p.P957L	NR3C2_ENST00000512865.1_Missense_Mutation_p.P840L|NR3C2_ENST00000355292.3_Missense_Mutation_p.P961L|NR3C2_ENST00000511528.1_Missense_Mutation_p.P961L|NR3C2_ENST00000344721.4_Missense_Mutation_p.P957L	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	957	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	CAGCATTGCGGGGAACTCTAC	0.602																																					Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													64.0	60.0	61.0					4																	149002580		2203	4300	6503	-	-	-	SO:0001583	missense	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2870C>T	4.37:g.149002580G>A	ENSP00000350815:p.Pro957Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P961L	ENST00000358102.3	37	c.2882	CCDS3772.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.174598	0.94807	.	.	ENSG00000151623	ENST00000344721;ENST00000355292;ENST00000358102;ENST00000512865;ENST00000511528	D;D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85;-3.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98162	1.0447	9	.	.	.	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	840;957	B0ZBF5;B0ZBF6	.;.	L	957;961;957;840;961	ENSP00000341390:P957L;ENSP00000347441:P961L;ENSP00000350815:P957L;ENSP00000423510:P840L;ENSP00000421481:P961L	.	P	-	2	0	NR3C2	149222030	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	9.845000	0.99498	2.770000	0.95276	0.650000	0.86243	CCC	NR3C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000151623		0.602	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	35	0.00	0	G			149002580	149002580	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	missense	19	29.63	8	SNP	1.000	A
NRBP1	29959	genome.wustl.edu	37	2	27657374	27657374	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:27657374C>G	ENST00000233557.3	+	6	1304	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	NRBP1_ENST00000379852.3_Missense_Mutation_p.L158V|NRBP1_ENST00000379863.3_Missense_Mutation_p.L158V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTGGGAGTCTGAAGCAATT	0.413																																						dbGAP											0													135.0	139.0	138.0					2																	27657374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.472C>G	2.37:g.27657374C>G	ENSP00000233557:p.Leu158Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	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	p.L158V	ENST00000233557.3	37	c.472	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618519	0.46736	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	D;D;D	0.91011	-2.77;-2.77;-2.77	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.65975	2.015	0.54753	D	0.999983	D;D	0.64830	0.993;0.994	P;D	0.64237	0.873;0.923	D	0.93479	0.6826	10	0.59425	D	0.04	-7.8528	12.2854	0.54789	0.0:0.9171:0.0:0.0829	.	158;158	F8W6G1;Q9UHY1	.;NRBP_HUMAN	V	158;138;158;158	ENSP00000233557:L158V;ENSP00000369181:L158V;ENSP00000369192:L158V	ENSP00000233557:L158V	L	+	1	2	NRBP1	27510878	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.627000	0.37050	2.543000	0.85770	0.491000	0.48974	CTG	NRBP1	-	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	ENSG00000115216		0.413	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	56	0.00	0	C	NM_013392		27657374	27657374	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	G
NRBP1	29959	genome.wustl.edu	37	2	27657374	27657374	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:27657374C>G	ENST00000233557.3	+	6	1304	c.472C>G	c.(472-474)Ctg>Gtg	p.L158V	NRBP1_ENST00000379852.3_Missense_Mutation_p.L158V|NRBP1_ENST00000379863.3_Missense_Mutation_p.L158V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	158	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCTGGGAGTCTGAAGCAATT	0.413																																						dbGAP											0													135.0	139.0	138.0					2																	27657374		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.472C>G	2.37:g.27657374C>G	ENSP00000233557:p.Leu158Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV40|D6W558|Q53FZ5|Q96SU3	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	p.L158V	ENST00000233557.3	37	c.472	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618519	0.46736	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	D;D;D	0.91011	-2.77;-2.77;-2.77	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93533	0.7936	M	0.65975	2.015	0.54753	D	0.999983	D;D	0.64830	0.993;0.994	P;D	0.64237	0.873;0.923	D	0.93479	0.6826	10	0.59425	D	0.04	-7.8528	12.2854	0.54789	0.0:0.9171:0.0:0.0829	.	158;158	F8W6G1;Q9UHY1	.;NRBP_HUMAN	V	158;138;158;158	ENSP00000233557:L158V;ENSP00000369181:L158V;ENSP00000369192:L158V	ENSP00000233557:L158V	L	+	1	2	NRBP1	27510878	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	1.627000	0.37050	2.543000	0.85770	0.491000	0.48974	CTG	NRBP1	-	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	ENSG00000115216		0.413	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	57	0.00	0	C	NM_013392		27657374	27657374	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	missense	36	21.74	10	SNP	1.000	G
NRSN1	140767	genome.wustl.edu	37	6	24134688	24134688	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:24134688G>A	ENST00000378491.4	+	3	434	c.133G>A	c.(133-135)Gag>Aag	p.E45K	NRSN1_ENST00000378478.1_Missense_Mutation_p.E45K|NRSN1_ENST00000378475.1_Missense_Mutation_p.E45K	NM_080723.4	NP_542454.3			neurensin 1									p.E45*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTGGGAGTATGAGGATGATTT	0.478																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											130.0	114.0	119.0					6																	24134688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.133G>A	6.37:g.24134688G>A	ENSP00000367752:p.Glu45Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E45K	ENST00000378491.4	37	c.133	CCDS4549.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.773818	0.96922	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.17054	2.3;2.3;2.3	5.74	5.74	0.90152	.	0.049126	0.85682	D	0.000000	T	0.14874	0.0359	L	0.51422	1.61	0.58432	D	0.999999	P	0.46142	0.873	B	0.42361	0.385	T	0.01266	-1.1401	10	0.72032	D	0.01	-21.4328	19.9279	0.97110	0.0:0.0:1.0:0.0	.	45	Q8IZ57	NRSN1_HUMAN	K	45	ENSP00000367752:E45K;ENSP00000367739:E45K;ENSP00000367736:E45K	ENSP00000367736:E45K	E	+	1	0	NRSN1	24242667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.441000	0.97557	2.715000	0.92844	0.655000	0.94253	GAG	NRSN1	-	NULL	ENSG00000152954		0.478	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	82	0.00	0	G	NM_080723		24134688	24134688	+1	no_errors	ENST00000378491	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	1.000	A
NRSN1	140767	genome.wustl.edu	37	6	24134688	24134688	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:24134688G>A	ENST00000378491.4	+	3	434	c.133G>A	c.(133-135)Gag>Aag	p.E45K	NRSN1_ENST00000378478.1_Missense_Mutation_p.E45K|NRSN1_ENST00000378475.1_Missense_Mutation_p.E45K	NM_080723.4	NP_542454.3			neurensin 1									p.E45*(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						TTGGGAGTATGAGGATGATTT	0.478																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											130.0	114.0	119.0					6																	24134688		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.133G>A	6.37:g.24134688G>A	ENSP00000367752:p.Glu45Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.E45K	ENST00000378491.4	37	c.133	CCDS4549.1	6	.	.	.	.	.	.	.	.	.	.	G	36	5.773818	0.96922	.	.	ENSG00000152954	ENST00000378491;ENST00000378478;ENST00000378477;ENST00000378475	T;T;T	0.17054	2.3;2.3;2.3	5.74	5.74	0.90152	.	0.049126	0.85682	D	0.000000	T	0.14874	0.0359	L	0.51422	1.61	0.58432	D	0.999999	P	0.46142	0.873	B	0.42361	0.385	T	0.01266	-1.1401	10	0.72032	D	0.01	-21.4328	19.9279	0.97110	0.0:0.0:1.0:0.0	.	45	Q8IZ57	NRSN1_HUMAN	K	45	ENSP00000367752:E45K;ENSP00000367739:E45K;ENSP00000367736:E45K	ENSP00000367736:E45K	E	+	1	0	NRSN1	24242667	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.441000	0.97557	2.715000	0.92844	0.655000	0.94253	GAG	NRSN1	-	NULL	ENSG00000152954		0.478	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN1	HGNC	protein_coding	OTTHUMT00000043866.1	71	0.00	0	G	NM_080723		24134688	24134688	+1	no_errors	ENST00000378491	ensembl	human	known	69_37n	missense	65	17.72	14	SNP	1.000	A
NXT1	29107	genome.wustl.edu	37	20	23334771	23334771	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:23334771G>A	ENST00000254998.2	+	2	480	c.93G>A	c.(91-93)cgG>cgA	p.R31R	RP3-322G13.5_ENST00000444981.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGGATAAGCGGCGGCGTTTGC	0.502																																						dbGAP											0													79.0	69.0	72.0					20																	23334771		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.93G>A	20.37:g.23334771G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.R31	ENST00000254998.2	37	c.93	CCDS13150.1	20																																																																																			NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000132661		0.502	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2	66	0.00	0	G	NM_013248		23334771	23334771	+1	no_errors	ENST00000254998	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.792	A
NXT1	29107	genome.wustl.edu	37	20	23334771	23334771	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:23334771G>A	ENST00000254998.2	+	2	480	c.93G>A	c.(91-93)cgG>cgA	p.R31R	RP3-322G13.5_ENST00000444981.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	31	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGGATAAGCGGCGGCGTTTGC	0.502																																						dbGAP											0													79.0	69.0	72.0					20																	23334771		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.93G>A	20.37:g.23334771G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.R31	ENST00000254998.2	37	c.93	CCDS13150.1	20																																																																																			NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000132661		0.502	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2	47	0.00	0	G	NM_013248		23334771	23334771	+1	no_errors	ENST00000254998	ensembl	human	known	69_37n	silent	50	16.67	10	SNP	0.792	A
OMA1	115209	genome.wustl.edu	37	1	58946629	58946629	+	3'UTR	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:58946629A>C	ENST00000371226.3	-	0	1696				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase						cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGTCTCATAAATTTTAATTCA	0.294																																						dbGAP											0													105.0	97.0	100.0					1																	58946629		2202	4299	6501	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.*8T>G	1.37:g.58946629A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	RNA	SNP	-	NULL	ENST00000371226.3	37	NULL	CCDS608.1	1																																																																																			OMA1	-	-	ENSG00000162600		0.294	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	56	0.00	0	A	NM_145243		58946629	58946629	-1	no_errors	ENST00000476933	ensembl	human	known	69_37n	rna	25	26.47	9	SNP	0.902	C
OMA1	115209	genome.wustl.edu	37	1	58946629	58946629	+	3'UTR	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:58946629A>C	ENST00000371226.3	-	0	1696				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase						cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGTCTCATAAATTTTAATTCA	0.294																																						dbGAP											0													105.0	97.0	100.0					1																	58946629		2202	4299	6501	-	-	-	SO:0001624	3_prime_UTR_variant	0			AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.*8T>G	1.37:g.58946629A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	RNA	SNP	-	NULL	ENST00000371226.3	37	NULL	CCDS608.1	1																																																																																			OMA1	-	-	ENSG00000162600		0.294	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMA1	HGNC	protein_coding	OTTHUMT00000027819.1	60	0.00	0	A	NM_145243		58946629	58946629	-1	no_errors	ENST00000476933	ensembl	human	known	69_37n	rna	25	26.47	9	SNP	0.902	C
OR1M1	125963	genome.wustl.edu	37	19	9204424	9204424	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:9204424C>T	ENST00000429566.3	+	1	570	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTCTCGTTTTCTGCGGCAGCC	0.572																																						dbGAP											0													115.0	94.0	101.0					19																	9204424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.504C>T	19.37:g.9204424C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F168	ENST00000429566.3	37	c.504	CCDS32896.1	19																																																																																			OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170929		0.572	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	56	0.00	0	C			9204424	9204424	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	1.000	T
OR1M1	125963	genome.wustl.edu	37	19	9204424	9204424	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:9204424C>T	ENST00000429566.3	+	1	570	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTCTCGTTTTCTGCGGCAGCC	0.572																																						dbGAP											0													115.0	94.0	101.0					19																	9204424		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.504C>T	19.37:g.9204424C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F168	ENST00000429566.3	37	c.504	CCDS32896.1	19																																																																																			OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000170929		0.572	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	43	0.00	0	C			9204424	9204424	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	silent	22	24.14	7	SNP	1.000	T
OR1M1	125963	genome.wustl.edu	37	19	9204570	9204570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:9204570C>G	ENST00000429566.3	+	1	716	c.650C>G	c.(649-651)tCc>tGc	p.S217C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTGGCCTCCTATGCTCGC	0.567																																						dbGAP											0													135.0	112.0	119.0					19																	9204570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.650C>G	19.37:g.9204570C>G	ENSP00000401966:p.Ser217Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S217C	ENST00000429566.3	37	c.650	CCDS32896.1	19	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584703	0.65992	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.38722	1.12	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.76579	0.4007	H	0.98048	4.135	0.42190	D	0.991723	D	0.89917	1.0	D	0.87578	0.998	D	0.86396	0.1739	10	0.87932	D	0	.	14.8193	0.70059	0.0:1.0:0.0:0.0	.	217	Q8NGA1	OR1M1_HUMAN	C	220;217	ENSP00000401966:S217C	ENSP00000303195:S220C	S	+	2	0	OR1M1	9065570	0.991000	0.36638	0.048000	0.18961	0.010000	0.07245	6.070000	0.71220	2.131000	0.65755	0.645000	0.84053	TCC	OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170929		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	53	0.00	0	C			9204570	9204570	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.998	G
OR1M1	125963	genome.wustl.edu	37	19	9204570	9204570	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:9204570C>G	ENST00000429566.3	+	1	716	c.650C>G	c.(649-651)tCc>tGc	p.S217C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCCTGGCCTCCTATGCTCGC	0.567																																						dbGAP											0													135.0	112.0	119.0					19																	9204570		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.650C>G	19.37:g.9204570C>G	ENSP00000401966:p.Ser217Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S217C	ENST00000429566.3	37	c.650	CCDS32896.1	19	.	.	.	.	.	.	.	.	.	.	c	18.26	3.584703	0.65992	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.38722	1.12	3.8	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000032	T	0.76579	0.4007	H	0.98048	4.135	0.42190	D	0.991723	D	0.89917	1.0	D	0.87578	0.998	D	0.86396	0.1739	10	0.87932	D	0	.	14.8193	0.70059	0.0:1.0:0.0:0.0	.	217	Q8NGA1	OR1M1_HUMAN	C	220;217	ENSP00000401966:S217C	ENSP00000303195:S220C	S	+	2	0	OR1M1	9065570	0.991000	0.36638	0.048000	0.18961	0.010000	0.07245	6.070000	0.71220	2.131000	0.65755	0.645000	0.84053	TCC	OR1M1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000170929		0.567	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1M1	HGNC	protein_coding	OTTHUMT00000448993.1	46	0.00	0	C			9204570	9204570	+1	no_errors	ENST00000429566	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.998	G
OR1N2	138882	genome.wustl.edu	37	9	125315550	125315550	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:125315550C>T	ENST00000373688.2	+	1	160	c.102C>T	c.(100-102)ctC>ctT	p.L34L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TTCTAGGACTCTCTGAGTGGC	0.512																																						dbGAP											0													106.0	98.0	101.0					9																	125315550		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.102C>T	9.37:g.125315550C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFM2|B2RNY4|Q6IF17|Q96RA3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.L34	ENST00000373688.2	37	c.102	CCDS35123.1	9																																																																																			OR1N2	-	NULL	ENSG00000171501		0.512	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1N2	HGNC	protein_coding	OTTHUMT00000053937.2	53	0.00	0	C			125315550	125315550	+1	no_errors	ENST00000373688	ensembl	human	known	69_37n	silent	39	23.53	12	SNP	0.360	T
OR2L8	391190	genome.wustl.edu	37	1	248112682	248112682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:248112682C>G	ENST00000357191.3	+	1	523	c.523C>G	c.(523-525)Cat>Gat	p.H175D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCATCAATCATTTCTTCTG	0.478																																						dbGAP											0													187.0	118.0	142.0					1																	248112682		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.523C>G	1.37:g.248112682C>G	ENSP00000349719:p.His175Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF03	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H175D	ENST00000357191.3	37	c.523	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.159120	0.38119	.	.	ENSG00000196936	ENST00000357191	T	0.00174	8.62	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34088	U	0.004272	T	0.00608	0.0020	M	0.88377	2.95	0.22185	N	0.999309	D	0.89917	1.0	D	0.85130	0.997	T	0.21280	-1.0250	10	0.87932	D	0	.	11.4637	0.50225	0.0:1.0:0.0:0.0	.	175	Q8NGY9	OR2L8_HUMAN	D	175	ENSP00000349719:H175D	ENSP00000349719:H175D	H	+	1	0	OR2L8	246179305	0.117000	0.22190	0.917000	0.36280	0.874000	0.50279	1.057000	0.30492	1.005000	0.39183	0.479000	0.44913	CAT	OR2L8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196936		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	103	0.00	0	C			248112682	248112682	+1	no_errors	ENST00000357191	ensembl	human	known	69_37n	missense	135	12.34	19	SNP	0.512	G
OR2L8	391190	genome.wustl.edu	37	1	248112682	248112682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:248112682C>G	ENST00000357191.3	+	1	523	c.523C>G	c.(523-525)Cat>Gat	p.H175D	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCATCAATCATTTCTTCTG	0.478																																						dbGAP											0													187.0	118.0	142.0					1																	248112682		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.523C>G	1.37:g.248112682C>G	ENSP00000349719:p.His175Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IF03	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H175D	ENST00000357191.3	37	c.523	CCDS31101.1	1	.	.	.	.	.	.	.	.	.	.	.	13.18	2.159120	0.38119	.	.	ENSG00000196936	ENST00000357191	T	0.00174	8.62	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34088	U	0.004272	T	0.00608	0.0020	M	0.88377	2.95	0.22185	N	0.999309	D	0.89917	1.0	D	0.85130	0.997	T	0.21280	-1.0250	10	0.87932	D	0	.	11.4637	0.50225	0.0:1.0:0.0:0.0	.	175	Q8NGY9	OR2L8_HUMAN	D	175	ENSP00000349719:H175D	ENSP00000349719:H175D	H	+	1	0	OR2L8	246179305	0.117000	0.22190	0.917000	0.36280	0.874000	0.50279	1.057000	0.30492	1.005000	0.39183	0.479000	0.44913	CAT	OR2L8	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000196936		0.478	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L8	HGNC	protein_coding	OTTHUMT00000096853.2	112	0.00	0	C			248112682	248112682	+1	no_errors	ENST00000357191	ensembl	human	known	69_37n	missense	135	12.34	19	SNP	0.512	G
OR2T6	254879	genome.wustl.edu	37	1	248551533	248551533	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:248551533G>C	ENST00000355728.2	+	1	624	c.624G>C	c.(622-624)ctG>ctC	p.L208L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGCTGCTGATCCCCTTCT	0.527																																						dbGAP											0													291.0	219.0	243.0					1																	248551533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.624G>C	1.37:g.248551533G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE36	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L208	ENST00000355728.2	37	c.624	CCDS31114.1	1																																																																																			OR2T6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000198104		0.527	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	172	0.00	0	G	NM_001005471		248551533	248551533	+1	no_errors	ENST00000355728	ensembl	human	known	69_37n	silent	142	12.88	21	SNP	0.002	C
OR2T6	254879	genome.wustl.edu	37	1	248551533	248551533	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:248551533G>C	ENST00000355728.2	+	1	624	c.624G>C	c.(622-624)ctG>ctC	p.L208L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAATGCTGCTGATCCCCTTCT	0.527																																						dbGAP											0													291.0	219.0	243.0					1																	248551533		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.624G>C	1.37:g.248551533G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NE36	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L208	ENST00000355728.2	37	c.624	CCDS31114.1	1																																																																																			OR2T6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000198104		0.527	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T6	HGNC	protein_coding	OTTHUMT00000097344.1	120	0.00	0	G	NM_001005471		248551533	248551533	+1	no_errors	ENST00000355728	ensembl	human	known	69_37n	silent	142	12.88	21	SNP	0.002	C
OR51B4	79339	genome.wustl.edu	37	11	5322639	5322639	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:5322639C>T	ENST00000380224.1	-	1	587	c.538G>A	c.(538-540)Gat>Aat	p.D180N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	180					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTATGACATCTTGATGGAGG	0.388																																						dbGAP											0													105.0	97.0	100.0					11																	5322639		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.538G>A	11.37:g.5322639C>T	ENSP00000369573:p.Asp180Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D180N	ENST00000380224.1	37	c.538	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098309	0.56183	.	.	ENSG00000183251	ENST00000380224	T	0.00107	8.72	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.118333	0.37530	N	0.002044	T	0.00496	0.0016	M	0.83384	2.64	0.27127	N	0.961988	D	0.67145	0.996	D	0.70016	0.967	T	0.46442	-0.9191	10	0.59425	D	0.04	.	14.2552	0.66048	0.0:1.0:0.0:0.0	.	180	Q9Y5P0	O51B4_HUMAN	N	180	ENSP00000369573:D180N	ENSP00000369573:D180N	D	-	1	0	OR51B4	5279215	0.001000	0.12720	1.000000	0.80357	0.557000	0.35523	0.985000	0.29578	2.384000	0.81235	0.655000	0.94253	GAT	OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183251		0.388	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	36	0.00	0	C	NM_033179		5322639	5322639	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	T
OR51B4	79339	genome.wustl.edu	37	11	5322639	5322639	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:5322639C>T	ENST00000380224.1	-	1	587	c.538G>A	c.(538-540)Gat>Aat	p.D180N	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	180					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTATGACATCTTGATGGAGG	0.388																																						dbGAP											0													105.0	97.0	100.0					11																	5322639		2201	4297	6498	-	-	-	SO:0001583	missense	0			BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.538G>A	11.37:g.5322639C>T	ENSP00000369573:p.Asp180Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MAV5|Q6NTD7	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.D180N	ENST00000380224.1	37	c.538	CCDS7757.1	11	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098309	0.56183	.	.	ENSG00000183251	ENST00000380224	T	0.00107	8.72	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.118333	0.37530	N	0.002044	T	0.00496	0.0016	M	0.83384	2.64	0.27127	N	0.961988	D	0.67145	0.996	D	0.70016	0.967	T	0.46442	-0.9191	10	0.59425	D	0.04	.	14.2552	0.66048	0.0:1.0:0.0:0.0	.	180	Q9Y5P0	O51B4_HUMAN	N	180	ENSP00000369573:D180N	ENSP00000369573:D180N	D	-	1	0	OR51B4	5279215	0.001000	0.12720	1.000000	0.80357	0.557000	0.35523	0.985000	0.29578	2.384000	0.81235	0.655000	0.94253	GAT	OR51B4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000183251		0.388	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B4	HGNC	protein_coding	OTTHUMT00000142956.2	41	0.00	0	C	NM_033179		5322639	5322639	-1	no_errors	ENST00000380224	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	T
OR5H15	403274	genome.wustl.edu	37	3	97888446	97888446	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:97888446C>T	ENST00000356526.2	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TAGTTTCATTCATAAAAATGT	0.303																																						dbGAP											0													43.0	47.0	45.0					3																	97888446		2181	4292	6473	-	-	-	SO:0001819	synonymous_variant	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.903C>T	3.37:g.97888446C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F301	ENST00000356526.2	37	c.903	CCDS33799.1	3																																																																																			OR5H15	-	NULL	ENSG00000233412		0.303	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	54	0.00	0	C			97888446	97888446	+1	no_errors	ENST00000356526	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.000	T
OR5H15	403274	genome.wustl.edu	37	3	97888446	97888446	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:97888446C>T	ENST00000356526.2	+	1	903	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TAGTTTCATTCATAAAAATGT	0.303																																						dbGAP											0													43.0	47.0	45.0					3																	97888446		2181	4292	6473	-	-	-	SO:0001819	synonymous_variant	0				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.903C>T	3.37:g.97888446C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F301	ENST00000356526.2	37	c.903	CCDS33799.1	3																																																																																			OR5H15	-	NULL	ENSG00000233412		0.303	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H15	HGNC	protein_coding	OTTHUMT00000359109.1	47	0.00	0	C			97888446	97888446	+1	no_errors	ENST00000356526	ensembl	human	known	69_37n	silent	28	31.71	13	SNP	0.000	T
OR6P1	128366	genome.wustl.edu	37	1	158533157	158533157	+	Missense_Mutation	SNP	G	G	C	rs551351648		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:158533157G>C	ENST00000334632.1	-	1	237	c.238C>G	c.(238-240)Cgg>Ggg	p.R80G		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R80W(1)		central_nervous_system(1)|endometrium(4)|lung(1)	6						GCCAAGAGCCGAGGAATGGTG	0.473																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											52.0	46.0	48.0					1																	158533157		692	1591	2283	-	-	-	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.238C>G	1.37:g.158533157G>C	ENSP00000334721:p.Arg80Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFR9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R80G	ENST00000334632.1	37	c.238	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716663	0.15306	.	.	ENSG00000186440	ENST00000334632	T	0.00411	7.53	5.0	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.398499	0.18086	N	0.152153	T	0.00178	0.0005	L	0.56124	1.755	0.09310	N	1	P	0.49961	0.93	B	0.43274	0.414	T	0.45381	-0.9265	10	0.87932	D	0	.	13.1209	0.59325	0.0:0.0:0.3526:0.6474	.	80	Q8NGX9	OR6P1_HUMAN	G	80	ENSP00000334721:R80G	ENSP00000334721:R80G	R	-	1	2	OR6P1	156799781	0.000000	0.05858	0.313000	0.25210	0.001000	0.01503	0.343000	0.19944	0.629000	0.30376	-0.293000	0.09583	CGG	OR6P1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186440		0.473	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	34	0.00	0	G			158533157	158533157	-1	no_errors	ENST00000334632	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.002	C
OR6P1	128366	genome.wustl.edu	37	1	158533157	158533157	+	Missense_Mutation	SNP	G	G	C	rs551351648		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:158533157G>C	ENST00000334632.1	-	1	237	c.238C>G	c.(238-240)Cgg>Ggg	p.R80G		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R80W(1)		central_nervous_system(1)|endometrium(4)|lung(1)	6						GCCAAGAGCCGAGGAATGGTG	0.473																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											52.0	46.0	48.0					1																	158533157		692	1591	2283	-	-	-	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.238C>G	1.37:g.158533157G>C	ENSP00000334721:p.Arg80Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFR9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R80G	ENST00000334632.1	37	c.238	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	G	7.816	0.716663	0.15306	.	.	ENSG00000186440	ENST00000334632	T	0.00411	7.53	5.0	1.81	0.25067	GPCR, rhodopsin-like superfamily (1);	0.398499	0.18086	N	0.152153	T	0.00178	0.0005	L	0.56124	1.755	0.09310	N	1	P	0.49961	0.93	B	0.43274	0.414	T	0.45381	-0.9265	10	0.87932	D	0	.	13.1209	0.59325	0.0:0.0:0.3526:0.6474	.	80	Q8NGX9	OR6P1_HUMAN	G	80	ENSP00000334721:R80G	ENSP00000334721:R80G	R	-	1	2	OR6P1	156799781	0.000000	0.05858	0.313000	0.25210	0.001000	0.01503	0.343000	0.19944	0.629000	0.30376	-0.293000	0.09583	CGG	OR6P1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186440		0.473	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	36	0.00	0	G			158533157	158533157	-1	no_errors	ENST00000334632	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.002	C
OR6P1	128366	genome.wustl.edu	37	1	158533238	158533238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:158533238G>C	ENST00000334632.1	-	1	156	c.157C>G	c.(157-159)Cca>Gca	p.P53A		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						TGAAGGCTTGGAGCAAGCCAT	0.468																																						dbGAP											0													49.0	55.0	53.0					1																	158533238		692	1591	2283	-	-	-	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.157C>G	1.37:g.158533238G>C	ENSP00000334721:p.Pro53Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFR9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P53A	ENST00000334632.1	37	c.157	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452758	0.01080	.	.	ENSG00000186440	ENST00000334632	T	0.03920	3.76	5.0	0.863	0.19062	GPCR, rhodopsin-like superfamily (1);	0.319633	0.22608	N	0.057871	T	0.00906	0.0030	N	0.20328	0.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47548	-0.9109	10	0.34782	T	0.22	.	6.0909	0.19993	0.2409:0.1344:0.6247:0.0	.	53	Q8NGX9	OR6P1_HUMAN	A	53	ENSP00000334721:P53A	ENSP00000334721:P53A	P	-	1	0	OR6P1	156799862	0.000000	0.05858	0.078000	0.20375	0.002000	0.02628	-1.352000	0.02619	0.004000	0.14682	-0.282000	0.10007	CCA	OR6P1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186440		0.468	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	20	0.00	0	G			158533238	158533238	-1	no_errors	ENST00000334632	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.000	C
OR6P1	128366	genome.wustl.edu	37	1	158533238	158533238	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:158533238G>C	ENST00000334632.1	-	1	156	c.157C>G	c.(157-159)Cca>Gca	p.P53A		NM_001160325.1	NP_001153797.1	Q8NGX9	OR6P1_HUMAN	olfactory receptor, family 6, subfamily P, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|lung(1)	6						TGAAGGCTTGGAGCAAGCCAT	0.468																																						dbGAP											0													49.0	55.0	53.0					1																	158533238		692	1591	2283	-	-	-	SO:0001583	missense	0			BK004193	CCDS53391.1	1q23.1	2012-08-09			ENSG00000186440	ENSG00000186440		"""GPCR / Class A : Olfactory receptors"""	15036	protein-coding gene	gene with protein product							Standard	NM_001160325		Approved		uc010pim.2	Q8NGX9	OTTHUMG00000019633	ENST00000334632.1:c.157C>G	1.37:g.158533238G>C	ENSP00000334721:p.Pro53Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFR9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.P53A	ENST00000334632.1	37	c.157	CCDS53391.1	1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.452758	0.01080	.	.	ENSG00000186440	ENST00000334632	T	0.03920	3.76	5.0	0.863	0.19062	GPCR, rhodopsin-like superfamily (1);	0.319633	0.22608	N	0.057871	T	0.00906	0.0030	N	0.20328	0.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47548	-0.9109	10	0.34782	T	0.22	.	6.0909	0.19993	0.2409:0.1344:0.6247:0.0	.	53	Q8NGX9	OR6P1_HUMAN	A	53	ENSP00000334721:P53A	ENSP00000334721:P53A	P	-	1	0	OR6P1	156799862	0.000000	0.05858	0.078000	0.20375	0.002000	0.02628	-1.352000	0.02619	0.004000	0.14682	-0.282000	0.10007	CCA	OR6P1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000186440		0.468	OR6P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6P1	HGNC	protein_coding	OTTHUMT00000051848.1	19	0.00	0	G			158533238	158533238	-1	no_errors	ENST00000334632	ensembl	human	known	69_37n	missense	30	16.67	6	SNP	0.000	C
OR7E47P	26628	genome.wustl.edu	37	12	52501943	52501943	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:52501943G>A	ENST00000546390.1	+	0	1342				AC078864.1_ENST00000582209.1_RNA					olfactory receptor, family 7, subfamily E, member 47 pseudogene																		TGCAGTGGCTGCAGTGATGTA	0.527																																						dbGAP											0																																										-	-	-			0			X87825		12q13.13	2013-01-23			ENSG00000257542	ENSG00000257542		"""GPCR / Class A : Olfactory receptors"""	8421	pseudogene	pseudogene						8647456	Standard	NR_120439		Approved	OR7E141			OTTHUMG00000169615		12.37:g.52501943G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000546390.1	37	NULL		12																																																																																			OR7E5P	-	-	ENSG00000257542		0.527	OR7E47P-002	KNOWN	basic	processed_transcript	OR7E5P	HGNC	pseudogene	OTTHUMT00000405071.1	32	0.00	0	G	NG_004128		52501943	52501943	+1	no_errors	ENST00000546390	ensembl	human	known	69_37n	rna	14	17.65	3	SNP	0.089	A
OTOG	340990	genome.wustl.edu	37	11	17615264	17615264	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:17615264G>A	ENST00000399391.2	+	26	3285	c.3285G>A	c.(3283-3285)caG>caA	p.Q1095Q	OTOG_ENST00000399397.1_Silent_p.Q1022Q|OTOG_ENST00000342528.2_Silent_p.Q110Q	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1095	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						TGTGGGACCAGAGAACCACAG	0.572																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.3285G>A	11.37:g.17615264G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.Q1095	ENST00000399391.2	37	c.3285	CCDS59225.1	11																																																																																			OTOG	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000188162		0.572	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		43	0.00	0	G			17615264	17615264	+1	no_errors	ENST00000399391	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	0.997	A
OTOG	340990	genome.wustl.edu	37	11	17615264	17615264	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:17615264G>A	ENST00000399391.2	+	26	3285	c.3285G>A	c.(3283-3285)caG>caA	p.Q1095Q	OTOG_ENST00000399397.1_Silent_p.Q1022Q|OTOG_ENST00000342528.2_Silent_p.Q110Q	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	1095	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						TGTGGGACCAGAGAACCACAG	0.572																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.3285G>A	11.37:g.17615264G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.Q1095	ENST00000399391.2	37	c.3285	CCDS59225.1	11																																																																																			OTOG	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000188162		0.572	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		38	0.00	0	G			17615264	17615264	+1	no_errors	ENST00000399391	ensembl	human	known	69_37n	silent	29	17.14	6	SNP	0.997	A
OR8D2	283160	genome.wustl.edu	37	11	124189782	124189782	+	Missense_Mutation	SNP	G	G	C	rs139872826		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:124189782G>C	ENST00000357438.2	-	1	402	c.312C>G	c.(310-312)ttC>ttG	p.F104L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAAAAATAAGGAAGAAATAAA	0.413																																						dbGAP											0													66.0	66.0	66.0					11																	124189782		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.312C>G	11.37:g.124189782G>C	ENSP00000350022:p.Phe104Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F104L	ENST00000357438.2	37	c.312	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	13.86	2.364013	0.41902	.	.	ENSG00000197263	ENST00000357438	T	0.00309	8.16	3.59	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	T	0.00468	0.0015	M	0.66439	2.03	0.22926	N	0.998559	D	0.69078	0.997	D	0.70716	0.97	T	0.47497	-0.9113	10	0.66056	D	0.02	.	7.1379	0.25539	0.3048:0.0:0.6952:0.0	.	104	Q9GZM6	OR8D2_HUMAN	L	104	ENSP00000350022:F104L	ENSP00000350022:F104L	F	-	3	2	OR8D2	123694992	0.001000	0.12720	0.376000	0.26042	0.690000	0.40134	0.056000	0.14256	0.523000	0.28482	-0.386000	0.06593	TTC	OR8D2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197263		0.413	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	40	0.00	0	G	NM_001002918		124189782	124189782	-1	no_errors	ENST00000357438	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.301	C
OR8D2	283160	genome.wustl.edu	37	11	124189782	124189782	+	Missense_Mutation	SNP	G	G	C	rs139872826		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:124189782G>C	ENST00000357438.2	-	1	402	c.312C>G	c.(310-312)ttC>ttG	p.F104L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAAAAATAAGGAAGAAATAAA	0.413																																						dbGAP											0													66.0	66.0	66.0					11																	124189782		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.312C>G	11.37:g.124189782G>C	ENSP00000350022:p.Phe104Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH49|Q6IFR0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.F104L	ENST00000357438.2	37	c.312	CCDS31707.1	11	.	.	.	.	.	.	.	.	.	.	g	13.86	2.364013	0.41902	.	.	ENSG00000197263	ENST00000357438	T	0.00309	8.16	3.59	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000113	T	0.00468	0.0015	M	0.66439	2.03	0.22926	N	0.998559	D	0.69078	0.997	D	0.70716	0.97	T	0.47497	-0.9113	10	0.66056	D	0.02	.	7.1379	0.25539	0.3048:0.0:0.6952:0.0	.	104	Q9GZM6	OR8D2_HUMAN	L	104	ENSP00000350022:F104L	ENSP00000350022:F104L	F	-	3	2	OR8D2	123694992	0.001000	0.12720	0.376000	0.26042	0.690000	0.40134	0.056000	0.14256	0.523000	0.28482	-0.386000	0.06593	TTC	OR8D2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000197263		0.413	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D2	HGNC	protein_coding	OTTHUMT00000387286.1	34	0.00	0	G	NM_001002918		124189782	124189782	-1	no_errors	ENST00000357438	ensembl	human	known	69_37n	missense	27	22.86	8	SNP	0.301	C
OTOP3	347741	genome.wustl.edu	37	17	72939777	72939777	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:72939777G>C	ENST00000328801.4	+	5	763	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	255						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CATGCACCGAGAGATCGAAGC	0.537																																						dbGAP											0													111.0	77.0	88.0					17																	72939777		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.763G>C	17.37:g.72939777G>C	ENSP00000328090:p.Glu255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Otopetrin	p.E255Q	ENST00000328801.4	37	c.763	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536341	0.27475	.	.	ENSG00000182938	ENST00000328801	T	0.09350	2.99	4.9	3.93	0.45458	.	0.310366	0.30611	N	0.009242	T	0.11324	0.0276	L	0.60455	1.87	0.39697	D	0.971126	B	0.20459	0.045	B	0.16289	0.015	T	0.08743	-1.0707	10	0.19147	T	0.46	-20.0216	10.8931	0.47006	0.0911:0.0:0.9089:0.0	.	255	Q7RTS5	OTOP3_HUMAN	Q	255	ENSP00000328090:E255Q	ENSP00000328090:E255Q	E	+	1	0	OTOP3	70451372	1.000000	0.71417	0.824000	0.32777	0.961000	0.63080	4.740000	0.62087	1.184000	0.42957	0.563000	0.77884	GAG	OTOP3	-	NULL	ENSG00000182938		0.537	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	74	0.00	0	G	NM_178233		72939777	72939777	+1	no_errors	ENST00000328801	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	0.948	C
OTOP3	347741	genome.wustl.edu	37	17	72939777	72939777	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:72939777G>C	ENST00000328801.4	+	5	763	c.763G>C	c.(763-765)Gag>Cag	p.E255Q		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	255						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CATGCACCGAGAGATCGAAGC	0.537																																						dbGAP											0													111.0	77.0	88.0					17																	72939777		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000568	CCDS11709.1	17q25	2004-01-19				ENSG00000182938			19658	protein-coding gene	gene with protein product		607828				12651873	Standard	NM_178233		Approved		uc010wrr.3	Q7RTS5		ENST00000328801.4:c.763G>C	17.37:g.72939777G>C	ENSP00000328090:p.Glu255Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Otopetrin	p.E255Q	ENST00000328801.4	37	c.763	CCDS11709.1	17	.	.	.	.	.	.	.	.	.	.	G	11.09	1.536341	0.27475	.	.	ENSG00000182938	ENST00000328801	T	0.09350	2.99	4.9	3.93	0.45458	.	0.310366	0.30611	N	0.009242	T	0.11324	0.0276	L	0.60455	1.87	0.39697	D	0.971126	B	0.20459	0.045	B	0.16289	0.015	T	0.08743	-1.0707	10	0.19147	T	0.46	-20.0216	10.8931	0.47006	0.0911:0.0:0.9089:0.0	.	255	Q7RTS5	OTOP3_HUMAN	Q	255	ENSP00000328090:E255Q	ENSP00000328090:E255Q	E	+	1	0	OTOP3	70451372	1.000000	0.71417	0.824000	0.32777	0.961000	0.63080	4.740000	0.62087	1.184000	0.42957	0.563000	0.77884	GAG	OTOP3	-	NULL	ENSG00000182938		0.537	OTOP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP3	HGNC	protein_coding	OTTHUMT00000445308.1	64	0.00	0	G	NM_178233		72939777	72939777	+1	no_errors	ENST00000328801	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	0.948	C
PAPPA2	60676	genome.wustl.edu	37	1	176738742	176738742	+	Splice_Site	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:176738742G>C	ENST00000367662.3	+	16	5487		c.e16-1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGTTTCTAGAAGGAAATTC	0.453																																						dbGAP											0													112.0	101.0	105.0					1																	176738742		1874	4100	5974	-	-	-	SO:0001630	splice_region_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4324-1G>C	1.37:g.176738742G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	-	e15-1	ENST00000367662.3	37	c.4324-1	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375482	0.61735	.	.	ENSG00000116183	ENST00000367662	.	.	.	6.17	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3707	0.16138	0.0673:0.1284:0.5382:0.2661	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	175005365	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	5.788000	0.69020	0.894000	0.36317	-0.181000	0.13052	.	PAPPA2	-	-	ENSG00000116183		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	39	0.00	0	G		Intron	176738742	176738742	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	splice_site	35	22.22	10	SNP	1.000	C
PAPPA2	60676	genome.wustl.edu	37	1	176738742	176738742	+	Splice_Site	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:176738742G>C	ENST00000367662.3	+	16	5487		c.e16-1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTGTTTCTAGAAGGAAATTC	0.453																																						dbGAP											0													112.0	101.0	105.0					1																	176738742		1874	4100	5974	-	-	-	SO:0001630	splice_region_variant	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4324-1G>C	1.37:g.176738742G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	-	e15-1	ENST00000367662.3	37	c.4324-1	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375482	0.61735	.	.	ENSG00000116183	ENST00000367662	.	.	.	6.17	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3707	0.16138	0.0673:0.1284:0.5382:0.2661	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	175005365	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	5.788000	0.69020	0.894000	0.36317	-0.181000	0.13052	.	PAPPA2	-	-	ENSG00000116183		0.453	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	48	0.00	0	G		Intron	176738742	176738742	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	splice_site	35	22.22	10	SNP	1.000	C
PARD6G	84552	genome.wustl.edu	37	18	77917708	77917708	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:77917708G>A	ENST00000353265.3	-	3	1274	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	359					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGCGCCAGGCTGTGACGGG	0.736																																						dbGAP											0													3.0	3.0	3.0					18																	77917708		1531	2808	4339	-	-	-	SO:0001819	synonymous_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.1077C>T	18.37:g.77917708G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.S359	ENST00000353265.3	37	c.1077	CCDS12022.1	18																																																																																			PARD6G	-	NULL	ENSG00000178184		0.736	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	23	0.00	0	G	NM_032510		77917708	77917708	-1	no_errors	ENST00000353265	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	A
PARD6G	84552	genome.wustl.edu	37	18	77917708	77917708	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:77917708G>A	ENST00000353265.3	-	3	1274	c.1077C>T	c.(1075-1077)agC>agT	p.S359S	AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	359					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GCAGCGCCAGGCTGTGACGGG	0.736																																						dbGAP											0													3.0	3.0	3.0					18																	77917708		1531	2808	4339	-	-	-	SO:0001819	synonymous_variant	0				CCDS12022.1	18q23	2013-08-28	2013-08-28		ENSG00000178184	ENSG00000178184			16076	protein-coding gene	gene with protein product		608976	"""par-6 (partitioning defective 6, C.elegans) homolog gamma"", ""par-6 partitioning defective 6 homolog gamma (C. elegans)"""			11260256	Standard	NM_032510		Approved	PAR-6G, PAR6gamma	uc002lny.3	Q9BYG4	OTTHUMG00000132922	ENST00000353265.3:c.1077C>T	18.37:g.77917708G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8QM57	Silent	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.S359	ENST00000353265.3	37	c.1077	CCDS12022.1	18																																																																																			PARD6G	-	NULL	ENSG00000178184		0.736	PARD6G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARD6G	HGNC	protein_coding	OTTHUMT00000256435.2	13	0.00	0	G	NM_032510		77917708	77917708	-1	no_errors	ENST00000353265	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	1.000	A
PARP4	143	genome.wustl.edu	37	13	25052268	25052268	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:25052268C>G	ENST00000381989.3	-	13	1700	c.1595G>C	c.(1594-1596)gGa>gCa	p.G532A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	532	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGCGAAACTCCATGCACACT	0.448																																						dbGAP											0													80.0	69.0	73.0					13																	25052268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1595G>C	13.37:g.25052268C>G	ENSP00000371419:p.Gly532Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.G532A	ENST00000381989.3	37	c.1595	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032834	0.75504	.	.	ENSG00000102699	ENST00000381989	T	0.17054	2.3	3.91	3.91	0.45181	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.77313	2.365	0.51012	D	0.999904	D	0.89917	1.0	D	0.91635	0.999	T	0.45527	-0.9255	10	0.87932	D	0	-14.2691	13.5035	0.61471	0.0:1.0:0.0:0.0	.	532	Q9UKK3	PARP4_HUMAN	A	532	ENSP00000371419:G532A	ENSP00000371419:G532A	G	-	2	0	PARP4	23950268	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	6.483000	0.73617	2.031000	0.59945	0.644000	0.83932	GGA	PARP4	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000102699		0.448	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	36	0.00	0	C	NM_006437		25052268	25052268	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	G
PARP4	143	genome.wustl.edu	37	13	25052268	25052268	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:25052268C>G	ENST00000381989.3	-	13	1700	c.1595G>C	c.(1594-1596)gGa>gCa	p.G532A		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	532	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGCGAAACTCCATGCACACT	0.448																																						dbGAP											0													80.0	69.0	73.0					13																	25052268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1595G>C	13.37:g.25052268C>G	ENSP00000371419:p.Gly532Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.G532A	ENST00000381989.3	37	c.1595	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032834	0.75504	.	.	ENSG00000102699	ENST00000381989	T	0.17054	2.3	3.91	3.91	0.45181	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.42063	0.1186	M	0.77313	2.365	0.51012	D	0.999904	D	0.89917	1.0	D	0.91635	0.999	T	0.45527	-0.9255	10	0.87932	D	0	-14.2691	13.5035	0.61471	0.0:1.0:0.0:0.0	.	532	Q9UKK3	PARP4_HUMAN	A	532	ENSP00000371419:G532A	ENSP00000371419:G532A	G	-	2	0	PARP4	23950268	1.000000	0.71417	0.996000	0.52242	0.938000	0.57974	6.483000	0.73617	2.031000	0.59945	0.644000	0.83932	GGA	PARP4	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	ENSG00000102699		0.448	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	25	0.00	0	C	NM_006437		25052268	25052268	-1	no_errors	ENST00000381989	ensembl	human	known	69_37n	missense	28	26.32	10	SNP	1.000	G
PCDH1	5097	genome.wustl.edu	37	5	141244620	141244620	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:141244620C>G	ENST00000394536.3	-	3	1415	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	PCDH1_ENST00000536585.1_Missense_Mutation_p.E404Q|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.E414Q|PCDH1_ENST00000287008.3_Missense_Mutation_p.E426Q	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTGCATTCTCTCCCTCATCT	0.562																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													128.0	107.0	114.0					5																	141244620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1276G>C	5.37:g.141244620C>G	ENSP00000378043:p.Glu426Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E426Q	ENST00000394536.3	37	c.1276	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	15.79	2.938330	0.52972	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000077	T	0.45216	0.1331	N	0.26092	0.79	0.80722	D	1	P;P	0.41131	0.688;0.739	P;B	0.45712	0.491;0.343	T	0.26643	-1.0097	10	0.38643	T	0.18	.	17.7556	0.88447	0.0:1.0:0.0:0.0	.	426;426	Q08174;Q08174-2	PCDH1_HUMAN;.	Q	426;426;414;437;404	ENSP00000287008:E426Q;ENSP00000378043:E426Q;ENSP00000403497:E414Q;ENSP00000350122:E437Q;ENSP00000438825:E404Q	ENSP00000287008:E426Q	E	-	1	0	PCDH1	141224804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.804000	0.96469	0.645000	0.84053	GAG	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.562	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	40	0.00	0	C	NM_032420		141244620	141244620	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	G
PCDH1	5097	genome.wustl.edu	37	5	141244620	141244620	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:141244620C>G	ENST00000394536.3	-	3	1415	c.1276G>C	c.(1276-1278)Gag>Cag	p.E426Q	PCDH1_ENST00000536585.1_Missense_Mutation_p.E404Q|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.E414Q|PCDH1_ENST00000287008.3_Missense_Mutation_p.E426Q	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GCTGCATTCTCTCCCTCATCT	0.562																																					Ovarian(132;1609 1739 4190 14731 45037)	dbGAP											0													128.0	107.0	114.0					5																	141244620		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.1276G>C	5.37:g.141244620C>G	ENSP00000378043:p.Glu426Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E426Q	ENST00000394536.3	37	c.1276	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	15.79	2.938330	0.52972	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	5.88	5.88	0.94601	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000077	T	0.45216	0.1331	N	0.26092	0.79	0.80722	D	1	P;P	0.41131	0.688;0.739	P;B	0.45712	0.491;0.343	T	0.26643	-1.0097	10	0.38643	T	0.18	.	17.7556	0.88447	0.0:1.0:0.0:0.0	.	426;426	Q08174;Q08174-2	PCDH1_HUMAN;.	Q	426;426;414;437;404	ENSP00000287008:E426Q;ENSP00000378043:E426Q;ENSP00000403497:E414Q;ENSP00000350122:E437Q;ENSP00000438825:E404Q	ENSP00000287008:E426Q	E	-	1	0	PCDH1	141224804	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.804000	0.96469	0.645000	0.84053	GAG	PCDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000156453		0.562	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	23	0.00	0	C	NM_032420		141244620	141244620	-1	no_errors	ENST00000287008	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	1.000	G
PCDH9	5101	genome.wustl.edu	37	13	67205389	67205389	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:67205389G>A	ENST00000377865.2	-	3	3427	c.3293C>T	c.(3292-3294)tCt>tTt	p.S1098F	PCDH9_ENST00000328454.5_Missense_Mutation_p.S1064F|PCDH9_ENST00000456367.1_Missense_Mutation_p.S1064F|PCDH9_ENST00000544246.1_Missense_Mutation_p.S1098F|RNU7-87P_ENST00000459343.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1098					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTTGTCCGGAGAGGCCTGGTC	0.517																																						dbGAP											0													117.0	113.0	114.0					13																	67205389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3293C>T	13.37:g.67205389G>A	ENSP00000367096:p.Ser1098Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1098F	ENST00000377865.2	37	c.3293	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649255	0.87958	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55930	0.52;0.52;0.49;0.49	5.49	5.49	0.81192	.	0.901075	0.09459	N	0.799336	T	0.67887	0.2941	L	0.38175	1.15	0.50632	D	0.999886	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.68192	0.905;0.956;0.931	T	0.65833	-0.6072	10	0.87932	D	0	.	19.3656	0.94460	0.0:0.0:1.0:0.0	.	1056;1064;1098	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	F	1098;1098;1064;1064	ENSP00000442186:S1098F;ENSP00000367096:S1098F;ENSP00000401699:S1064F;ENSP00000332060:S1064F	ENSP00000332060:S1064F	S	-	2	0	PCDH9	66103390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.429000	0.97481	2.573000	0.86826	0.655000	0.94253	TCT	PCDH9	-	NULL	ENSG00000184226		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	55	0.00	0	G	NM_203487		67205389	67205389	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	A
PCDH9	5101	genome.wustl.edu	37	13	67205389	67205389	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:67205389G>A	ENST00000377865.2	-	3	3427	c.3293C>T	c.(3292-3294)tCt>tTt	p.S1098F	PCDH9_ENST00000328454.5_Missense_Mutation_p.S1064F|PCDH9_ENST00000456367.1_Missense_Mutation_p.S1064F|PCDH9_ENST00000544246.1_Missense_Mutation_p.S1098F|RNU7-87P_ENST00000459343.1_RNA			Q9HC56	PCDH9_HUMAN	protocadherin 9	1098					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTTGTCCGGAGAGGCCTGGTC	0.517																																						dbGAP											0													117.0	113.0	114.0					13																	67205389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3293C>T	13.37:g.67205389G>A	ENSP00000367096:p.Ser1098Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1098F	ENST00000377865.2	37	c.3293	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	25.5	4.649255	0.87958	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55930	0.52;0.52;0.49;0.49	5.49	5.49	0.81192	.	0.901075	0.09459	N	0.799336	T	0.67887	0.2941	L	0.38175	1.15	0.50632	D	0.999886	D;D;D	0.71674	0.997;0.998;0.998	P;D;D	0.68192	0.905;0.956;0.931	T	0.65833	-0.6072	10	0.87932	D	0	.	19.3656	0.94460	0.0:0.0:1.0:0.0	.	1056;1064;1098	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	F	1098;1098;1064;1064	ENSP00000442186:S1098F;ENSP00000367096:S1098F;ENSP00000401699:S1064F;ENSP00000332060:S1064F	ENSP00000332060:S1064F	S	-	2	0	PCDH9	66103390	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.429000	0.97481	2.573000	0.86826	0.655000	0.94253	TCT	PCDH9	-	NULL	ENSG00000184226		0.517	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	52	0.00	0	G	NM_203487		67205389	67205389	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	A
PCDHAC2	56134	genome.wustl.edu	37	5	140346930	140346930	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:140346930C>G	ENST00000289269.5	+	1	1111	c.579C>G	c.(577-579)ttC>ttG	p.F193L	PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F193F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCACTTCGAGCTGGACC	0.627																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											30.0	26.0	28.0					5																	140346930		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.579C>G	5.37:g.140346930C>G	ENSP00000289269:p.Phe193Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F193L	ENST00000289269.5	37	c.579	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829261	0.32329	.	.	ENSG00000243232	ENST00000289269	T	0.70749	-0.51	5.44	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000524	D	0.84995	0.5596	M	0.93375	3.41	0.46823	D	0.999219	D;P	0.67145	0.996;0.475	D;B	0.69654	0.965;0.312	D	0.84080	0.0384	10	0.62326	D	0.03	.	7.4865	0.27437	0.0:0.5791:0.0:0.4209	.	193;193	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	L	193	ENSP00000289269:F193L	ENSP00000289269:F193L	F	+	3	2	PCDHAC2	140327114	0.001000	0.12720	1.000000	0.80357	0.990000	0.78478	-0.266000	0.08631	0.529000	0.28599	0.561000	0.74099	TTC	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.627	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	41	0.00	0	C	NM_018899		140346930	140346930	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	1.000	G
PCDHAC2	56134	genome.wustl.edu	37	5	140346930	140346930	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:140346930C>G	ENST00000289269.5	+	1	1111	c.579C>G	c.(577-579)ttC>ttG	p.F193L	PCDHAC1_ENST00000253807.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.F193F(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCACTTCGAGCTGGACC	0.627																																					Melanoma(190;638 2083 3390 11909 52360)	dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											30.0	26.0	28.0					5																	140346930		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.579C>G	5.37:g.140346930C>G	ENSP00000289269:p.Phe193Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F193L	ENST00000289269.5	37	c.579	CCDS4242.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829261	0.32329	.	.	ENSG00000243232	ENST00000289269	T	0.70749	-0.51	5.44	3.52	0.40303	Cadherin (4);Cadherin-like (1);	0.000000	0.43747	D	0.000524	D	0.84995	0.5596	M	0.93375	3.41	0.46823	D	0.999219	D;P	0.67145	0.996;0.475	D;B	0.69654	0.965;0.312	D	0.84080	0.0384	10	0.62326	D	0.03	.	7.4865	0.27437	0.0:0.5791:0.0:0.4209	.	193;193	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	L	193	ENSP00000289269:F193L	ENSP00000289269:F193L	F	+	3	2	PCDHAC2	140327114	0.001000	0.12720	1.000000	0.80357	0.990000	0.78478	-0.266000	0.08631	0.529000	0.28599	0.561000	0.74099	TTC	PCDHAC2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000243232		0.627	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHAC2	HGNC	protein_coding	OTTHUMT00000251802.2	36	0.00	0	C	NM_018899		140346930	140346930	+1	no_errors	ENST00000289269	ensembl	human	known	69_37n	missense	10	44.44	8	SNP	1.000	G
PDE1B	5153	genome.wustl.edu	37	12	54964046	54964046	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:54964046G>C	ENST00000243052.3	+	6	935	c.499G>C	c.(499-501)Gat>Cat	p.D167H	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.D126H|PDE1B_ENST00000550620.1_Missense_Mutation_p.D147H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	167					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTGGTGCTTTGATGTCTTTTC	0.473																																						dbGAP											0													211.0	169.0	183.0					12																	54964046		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.499G>C	12.37:g.54964046G>C	ENSP00000243052:p.Asp167His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.D167H	ENST00000243052.3	37	c.499	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134183	0.77662	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.73469	-0.75;-0.71;-0.73	3.84	3.84	0.44239	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.058389	0.64402	D	0.000004	D	0.84316	0.5445	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	D	0.84925	0.0856	10	0.48119	T	0.1	.	14.0587	0.64786	0.0:0.0:1.0:0.0	.	147;167	Q01064-2;Q01064	.;PDE1B_HUMAN	H	167;126;147	ENSP00000243052:D167H;ENSP00000442559:D126H;ENSP00000448519:D147H	ENSP00000243052:D167H	D	+	1	0	PDE1B	53250313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.433000	0.82419	0.561000	0.74099	GAT	PDE1B	-	NULL	ENSG00000123360		0.473	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	45	0.00	0	G			54964046	54964046	+1	no_errors	ENST00000243052	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	C
PDE1B	5153	genome.wustl.edu	37	12	54964046	54964046	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:54964046G>C	ENST00000243052.3	+	6	935	c.499G>C	c.(499-501)Gat>Cat	p.D167H	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.D126H|PDE1B_ENST00000550620.1_Missense_Mutation_p.D147H	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	167					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	CTGGTGCTTTGATGTCTTTTC	0.473																																						dbGAP											0													211.0	169.0	183.0					12																	54964046		2203	4300	6503	-	-	-	SO:0001583	missense	0			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.499G>C	12.37:g.54964046G>C	ENSP00000243052:p.Asp167His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q92825|Q96KP3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.D167H	ENST00000243052.3	37	c.499	CCDS8882.1	12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134183	0.77662	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.73469	-0.75;-0.71;-0.73	3.84	3.84	0.44239	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.058389	0.64402	D	0.000004	D	0.84316	0.5445	M	0.74389	2.26	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76575	0.988;0.98	D	0.84925	0.0856	10	0.48119	T	0.1	.	14.0587	0.64786	0.0:0.0:1.0:0.0	.	147;167	Q01064-2;Q01064	.;PDE1B_HUMAN	H	167;126;147	ENSP00000243052:D167H;ENSP00000442559:D126H;ENSP00000448519:D147H	ENSP00000243052:D167H	D	+	1	0	PDE1B	53250313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.597000	0.82733	2.433000	0.82419	0.561000	0.74099	GAT	PDE1B	-	NULL	ENSG00000123360		0.473	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	28	0.00	0	G			54964046	54964046	+1	no_errors	ENST00000243052	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	C
PDZD7	79955	genome.wustl.edu	37	10	102778591	102778591	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:102778591G>C	ENST00000370215.3	-	8	1537	c.1312C>G	c.(1312-1314)Ctg>Gtg	p.L438V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	438						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACAAGGTCAGATAGCTCTGG	0.657											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													10.0	13.0	12.0					10																	102778591		2196	4286	6482	-	-	-	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1312C>G	10.37:g.102778591G>C	ENSP00000359234:p.Leu438Val	Somatic	1369	WXS	Illumina GAIIx	Phase_IV	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L438V	ENST00000370215.3	37	c.1312	CCDS31269.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.810077|1.810077	0.32053|0.32053	.|.	.|.	ENSG00000186862|ENSG00000186862	ENST00000433616|ENST00000393462;ENST00000370215	.|T	.|0.12879	.|2.64	5.12|5.12	3.27|3.27	0.37495|0.37495	.|.	.|0.976477	.|0.08373	.|N	.|0.955844	T|T	0.12561|0.12561	0.0305|0.0305	L|L	0.41710|0.41710	1.295|1.295	0.32809|0.32809	D|D	0.501158|0.501158	.|B;B	.|0.33448	.|0.412;0.347	.|B;B	.|0.31686	.|0.134;0.12	T|T	0.22626|0.22626	-1.0211|-1.0211	5|10	.|0.19147	.|T	.|0.46	.|.	11.2779|11.2779	0.49178|0.49178	0.1491:0.0:0.8509:0.0|0.1491:0.0:0.8509:0.0	.|.	.|438;438	.|Q9H5P4;Q9H5P4-2	.|PDZD7_HUMAN;.	M|V	12|438	.|ENSP00000359234:L438V	.|ENSP00000359234:L438V	I|L	-|-	3|1	3|2	PDZD7|PDZD7	102768581|102768581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.073000|2.073000	0.41519|0.41519	0.561000|0.561000	0.29186|0.29186	0.561000|0.561000	0.74099|0.74099	ATC|CTG	PDZD7	-	NULL	ENSG00000186862		0.657	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	52	0.00	0	G	NM_024895		102778591	102778591	-1	no_errors	ENST00000370215	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	C
PDZD7	79955	genome.wustl.edu	37	10	102778591	102778591	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:102778591G>C	ENST00000370215.3	-	8	1537	c.1312C>G	c.(1312-1314)Ctg>Gtg	p.L438V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	438						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CACAAGGTCAGATAGCTCTGG	0.657											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													10.0	13.0	12.0					10																	102778591		2196	4286	6482	-	-	-	SO:0001583	missense	0			AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1312C>G	10.37:g.102778591G>C	ENSP00000359234:p.Leu438Val	Somatic	1369	WXS	Illumina GAIIx	Phase_IV	D5FJ77|Q8N321	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L438V	ENST00000370215.3	37	c.1312	CCDS31269.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.01|12.01	1.810077|1.810077	0.32053|0.32053	.|.	.|.	ENSG00000186862|ENSG00000186862	ENST00000433616|ENST00000393462;ENST00000370215	.|T	.|0.12879	.|2.64	5.12|5.12	3.27|3.27	0.37495|0.37495	.|.	.|0.976477	.|0.08373	.|N	.|0.955844	T|T	0.12561|0.12561	0.0305|0.0305	L|L	0.41710|0.41710	1.295|1.295	0.32809|0.32809	D|D	0.501158|0.501158	.|B;B	.|0.33448	.|0.412;0.347	.|B;B	.|0.31686	.|0.134;0.12	T|T	0.22626|0.22626	-1.0211|-1.0211	5|10	.|0.19147	.|T	.|0.46	.|.	11.2779|11.2779	0.49178|0.49178	0.1491:0.0:0.8509:0.0|0.1491:0.0:0.8509:0.0	.|.	.|438;438	.|Q9H5P4;Q9H5P4-2	.|PDZD7_HUMAN;.	M|V	12|438	.|ENSP00000359234:L438V	.|ENSP00000359234:L438V	I|L	-|-	3|1	3|2	PDZD7|PDZD7	102768581|102768581	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	2.073000|2.073000	0.41519|0.41519	0.561000|0.561000	0.29186|0.29186	0.561000|0.561000	0.74099|0.74099	ATC|CTG	PDZD7	-	NULL	ENSG00000186862		0.657	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD7	HGNC	protein_coding	OTTHUMT00000049883.1	58	0.00	0	G	NM_024895		102778591	102778591	-1	no_errors	ENST00000370215	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	C
PDZRN4	29951	genome.wustl.edu	37	12	41967239	41967239	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:41967239G>A	ENST00000402685.2	+	10	2666	c.2658G>A	c.(2656-2658)aaG>aaA	p.K886K	PDZRN4_ENST00000298919.7_Silent_p.K626K|PDZRN4_ENST00000539469.2_Silent_p.K628K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	886							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGAGCCCAAGATGGAATGGA	0.488																																						dbGAP											0													114.0	105.0	108.0					12																	41967239		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2658G>A	12.37:g.41967239G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.K886	ENST00000402685.2	37	c.2658	CCDS53777.1	12																																																																																			PDZRN4	-	NULL	ENSG00000165966		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	28	0.00	0	G	NM_013377		41967239	41967239	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	1.000	A
PDZRN4	29951	genome.wustl.edu	37	12	41967239	41967239	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:41967239G>A	ENST00000402685.2	+	10	2666	c.2658G>A	c.(2656-2658)aaG>aaA	p.K886K	PDZRN4_ENST00000298919.7_Silent_p.K626K|PDZRN4_ENST00000539469.2_Silent_p.K628K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	886							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGAGCCCAAGATGGAATGGA	0.488																																						dbGAP											0													114.0	105.0	108.0					12																	41967239		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2658G>A	12.37:g.41967239G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Silent	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.K886	ENST00000402685.2	37	c.2658	CCDS53777.1	12																																																																																			PDZRN4	-	NULL	ENSG00000165966		0.488	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	39	0.00	0	G	NM_013377		41967239	41967239	+1	no_errors	ENST00000402685	ensembl	human	known	69_37n	silent	12	33.33	6	SNP	1.000	A
PELI3	246330	genome.wustl.edu	37	11	66238754	66238754	+	Missense_Mutation	SNP	G	G	A	rs541571878		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:66238754G>A	ENST00000320740.7	+	4	426	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.R65Q|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	89					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R89Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCCGGCGAAGCCGCCTG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12020	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	81.0	78.0					11																	66238754		2200	4295	6495	-	-	-	SO:0001583	missense	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.266G>A	11.37:g.66238754G>A	ENSP00000322532:p.Arg89Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino	p.R89Q	ENST00000320740.7	37	c.266	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038870	0.93630	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000527230	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.56411	0.1983	L	0.55213	1.73	0.46149	D	0.998897	D;D;D	0.64830	0.967;0.99;0.994	B;P;P	0.58928	0.388;0.657;0.848	T	0.56547	-0.7961	10	0.54805	T	0.06	-9.5914	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	65;89;89	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Q	65;89;89;89	ENSP00000309848:R65Q;ENSP00000322532:R89Q;ENSP00000434677:R89Q;ENSP00000432449:R89Q	ENSP00000322532:R89Q	R	+	2	0	PELI3	65995330	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	1.231000	0.32624	2.735000	0.93741	0.655000	0.94253	CGA	PELI3	-	pfam_Pellino	ENSG00000174516		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	68	0.00	0	G	NM_145065		66238754	66238754	+1	no_errors	ENST00000320740	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.988	A
PELI3	246330	genome.wustl.edu	37	11	66238754	66238754	+	Missense_Mutation	SNP	G	G	A	rs541571878		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:66238754G>A	ENST00000320740.7	+	4	426	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	PELI3_ENST00000524466.1_Missense_Mutation_p.R89Q|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.R65Q|PELI3_ENST00000531856.1_Intron|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	89					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R89Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCCGGCGAAGCCGCCTG	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		12020	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											72.0	81.0	78.0					11																	66238754		2200	4295	6495	-	-	-	SO:0001583	missense	0			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.266G>A	11.37:g.66238754G>A	ENSP00000322532:p.Arg89Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino	p.R89Q	ENST00000320740.7	37	c.266	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038870	0.93630	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000527230	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000002	T	0.56411	0.1983	L	0.55213	1.73	0.46149	D	0.998897	D;D;D	0.64830	0.967;0.99;0.994	B;P;P	0.58928	0.388;0.657;0.848	T	0.56547	-0.7961	10	0.54805	T	0.06	-9.5914	9.7476	0.40457	0.0907:0.0:0.9093:0.0	.	65;89;89	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	Q	65;89;89;89	ENSP00000309848:R65Q;ENSP00000322532:R89Q;ENSP00000434677:R89Q;ENSP00000432449:R89Q	ENSP00000322532:R89Q	R	+	2	0	PELI3	65995330	0.986000	0.35501	1.000000	0.80357	0.995000	0.86356	1.231000	0.32624	2.735000	0.93741	0.655000	0.94253	CGA	PELI3	-	pfam_Pellino	ENSG00000174516		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	44	0.00	0	G	NM_145065		66238754	66238754	+1	no_errors	ENST00000320740	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.988	A
PGLYRP3	114771	genome.wustl.edu	37	1	153276357	153276357	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:153276357G>C	ENST00000290722.1	-	4	557	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	169					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGGATGTTGAGGGTCCAGG	0.542																																						dbGAP											0													117.0	118.0	118.0					1																	153276357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.505C>G	1.37:g.153276357G>C	ENSP00000290722:p.Gln169Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.Q169E	ENST00000290722.1	37	c.505	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091763	0.07053	.	.	ENSG00000159527	ENST00000290722	T	0.29655	1.56	4.3	2.41	0.29592	N-acetylmuramoyl-L-alanine amidase domain (2);	0.542805	0.16976	N	0.191885	T	0.09202	0.0227	L	0.50919	1.6	0.09310	N	1	P	0.36086	0.536	B	0.37550	0.253	T	0.20840	-1.0263	10	0.10377	T	0.69	-45.7643	5.9632	0.19310	0.2324:0.0:0.7676:0.0	.	169	Q96LB9	PGRP3_HUMAN	E	169	ENSP00000290722:Q169E	ENSP00000290722:Q169E	Q	-	1	0	PGLYRP3	151542981	0.532000	0.26346	0.200000	0.23457	0.095000	0.18619	1.072000	0.30678	1.166000	0.42689	0.650000	0.86243	CAA	PGLYRP3	-	pfam_Amidase_domain,smart_Amidase_domain	ENSG00000159527		0.542	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	83	0.00	0	G	NM_052891		153276357	153276357	-1	no_errors	ENST00000290722	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	0.030	C
PGLYRP3	114771	genome.wustl.edu	37	1	153276357	153276357	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:153276357G>C	ENST00000290722.1	-	4	557	c.505C>G	c.(505-507)Caa>Gaa	p.Q169E		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	169					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGGATGTTGAGGGTCCAGG	0.542																																						dbGAP											0													117.0	118.0	118.0					1																	153276357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.505C>G	1.37:g.153276357G>C	ENSP00000290722:p.Gln169Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A4U8|Q5SY65	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.Q169E	ENST00000290722.1	37	c.505	CCDS1035.1	1	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091763	0.07053	.	.	ENSG00000159527	ENST00000290722	T	0.29655	1.56	4.3	2.41	0.29592	N-acetylmuramoyl-L-alanine amidase domain (2);	0.542805	0.16976	N	0.191885	T	0.09202	0.0227	L	0.50919	1.6	0.09310	N	1	P	0.36086	0.536	B	0.37550	0.253	T	0.20840	-1.0263	10	0.10377	T	0.69	-45.7643	5.9632	0.19310	0.2324:0.0:0.7676:0.0	.	169	Q96LB9	PGRP3_HUMAN	E	169	ENSP00000290722:Q169E	ENSP00000290722:Q169E	Q	-	1	0	PGLYRP3	151542981	0.532000	0.26346	0.200000	0.23457	0.095000	0.18619	1.072000	0.30678	1.166000	0.42689	0.650000	0.86243	CAA	PGLYRP3	-	pfam_Amidase_domain,smart_Amidase_domain	ENSG00000159527		0.542	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP3	HGNC	protein_coding	OTTHUMT00000039488.1	97	0.00	0	G	NM_052891		153276357	153276357	-1	no_errors	ENST00000290722	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	0.030	C
PHRF1	57661	genome.wustl.edu	37	11	607938	607938	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:607938G>A	ENST00000264555.5	+	14	2610	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	PHRF1_ENST00000533464.1_Missense_Mutation_p.E824K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E827K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E826K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	828					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGCGAGGTCTACGA	0.642																																						dbGAP											0													59.0	68.0	65.0					11																	607938		2021	4163	6184	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2482G>A	11.37:g.607938G>A	ENSP00000264555:p.Glu828Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E828K	ENST00000264555.5	37	c.2482		11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468149	0.63625	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.55	4.55	0.56014	.	0.000000	0.42821	D	0.000649	D	0.88757	0.6523	L	0.54323	1.7	0.45580	D	0.998526	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.68621	0.912;0.959;0.959;0.912	D	0.89901	0.4044	10	0.66056	D	0.02	-40.1938	17.5148	0.87770	0.0:0.0:1.0:0.0	.	824;826;827;828	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	828;826;827;824	ENSP00000264555:E828K;ENSP00000388589:E826K;ENSP00000410626:E827K;ENSP00000431870:E824K	ENSP00000264555:E828K	E	+	1	0	PHRF1	597938	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	4.889000	0.63171	2.356000	0.79943	0.555000	0.69702	GAG	PHRF1	-	NULL	ENSG00000070047		0.642	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	55	0.00	0	G	NM_020901		607938	607938	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
PHRF1	57661	genome.wustl.edu	37	11	607938	607938	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:607938G>A	ENST00000264555.5	+	14	2610	c.2482G>A	c.(2482-2484)Gag>Aag	p.E828K	PHRF1_ENST00000533464.1_Missense_Mutation_p.E824K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E827K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E826K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	828					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGCGAGGTCTACGA	0.642																																						dbGAP											0													59.0	68.0	65.0					11																	607938		2021	4163	6184	-	-	-	SO:0001583	missense	0			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2482G>A	11.37:g.607938G>A	ENSP00000264555:p.Glu828Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E828K	ENST00000264555.5	37	c.2482		11	.	.	.	.	.	.	.	.	.	.	G	17.76	3.468149	0.63625	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75	4.55	4.55	0.56014	.	0.000000	0.42821	D	0.000649	D	0.88757	0.6523	L	0.54323	1.7	0.45580	D	0.998526	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.68621	0.912;0.959;0.959;0.912	D	0.89901	0.4044	10	0.66056	D	0.02	-40.1938	17.5148	0.87770	0.0:0.0:1.0:0.0	.	824;826;827;828	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	828;826;827;824	ENSP00000264555:E828K;ENSP00000388589:E826K;ENSP00000410626:E827K;ENSP00000431870:E824K	ENSP00000264555:E828K	E	+	1	0	PHRF1	597938	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	4.889000	0.63171	2.356000	0.79943	0.555000	0.69702	GAG	PHRF1	-	NULL	ENSG00000070047		0.642	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	38	0.00	0	G	NM_020901		607938	607938	+1	no_errors	ENST00000264555	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
PIGC	5279	genome.wustl.edu	37	1	172413028	172413028	+	5'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:172413028C>T	ENST00000367728.1	-	0	198				PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGGTGGGCCTCCCACTTCCGC	0.662											OREG0013986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.-1266G>A	1.37:g.172413028C>T		Somatic	1900	WXS	Illumina GAIIx	Phase_IV	O14491	RNA	SNP	-	NULL	ENST00000367728.1	37	NULL	CCDS1302.1	1																																																																																			PIGC	-	-	ENSG00000135845		0.662	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	42	0.00	0	C	NM_153747		172413028	172413028	-1	no_errors	ENST00000478184	ensembl	human	known	69_37n	rna	50	10.71	6	SNP	0.001	T
PIGC	5279	genome.wustl.edu	37	1	172413028	172413028	+	5'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:172413028C>T	ENST00000367728.1	-	0	198				PIGC_ENST00000484368.1_Intron|PIGC_ENST00000258324.1_Intron|C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GGGTGGGCCTCCCACTTCCGC	0.662											OREG0013986	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.-1266G>A	1.37:g.172413028C>T		Somatic	1900	WXS	Illumina GAIIx	Phase_IV	O14491	RNA	SNP	-	NULL	ENST00000367728.1	37	NULL	CCDS1302.1	1																																																																																			PIGC	-	-	ENSG00000135845		0.662	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIGC	HGNC	protein_coding	OTTHUMT00000084068.1	27	0.00	0	C	NM_153747		172413028	172413028	-1	no_errors	ENST00000478184	ensembl	human	known	69_37n	rna	50	10.71	6	SNP	0.001	T
PIK3C2B	5287	genome.wustl.edu	37	1	204411714	204411714	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:204411714G>C	ENST00000367187.3	-	21	3652	c.3096C>G	c.(3094-3096)ctC>ctG	p.L1032L	PIK3C2B_ENST00000424712.2_Silent_p.L1004L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1032					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACGAGCCATTGAGGGCAAAGA	0.592																																						dbGAP											0													41.0	34.0	37.0					1																	204411714		2181	4258	6439	-	-	-	SO:0001819	synonymous_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3096C>G	1.37:g.204411714G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1032	ENST00000367187.3	37	c.3096	CCDS1446.1	1																																																																																			PIK3C2B	-	superfamily_Kinase-like_dom	ENSG00000133056		0.592	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	58	0.00	0	G	NM_002646		204411714	204411714	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	silent	36	12.20	5	SNP	0.980	C
PIK3C2B	5287	genome.wustl.edu	37	1	204411714	204411714	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:204411714G>C	ENST00000367187.3	-	21	3652	c.3096C>G	c.(3094-3096)ctC>ctG	p.L1032L	PIK3C2B_ENST00000424712.2_Silent_p.L1004L	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1032					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ACGAGCCATTGAGGGCAAAGA	0.592																																						dbGAP											0													41.0	34.0	37.0					1																	204411714		2181	4258	6439	-	-	-	SO:0001819	synonymous_variant	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.3096C>G	1.37:g.204411714G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95666|Q5SW99	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.L1032	ENST00000367187.3	37	c.3096	CCDS1446.1	1																																																																																			PIK3C2B	-	superfamily_Kinase-like_dom	ENSG00000133056		0.592	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	40	0.00	0	G	NM_002646		204411714	204411714	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	silent	36	12.20	5	SNP	0.980	C
PIK3C3	5289	genome.wustl.edu	37	18	39537606	39537606	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:39537606C>T	ENST00000262039.4	+	2	226	c.140C>T	c.(139-141)tCa>tTa	p.S47L	PIK3C3_ENST00000586545.1_Missense_Mutation_p.S47L|PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000398870.3_Intron	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	47	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTGAAGTTCTCAGGACTATAT	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	dbGAP											0													145.0	146.0	146.0					18																	39537606		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.140C>T	18.37:g.39537606C>T	ENSP00000262039:p.Ser47Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.S47L	ENST00000262039.4	37	c.140	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521222	0.64747	.	.	ENSG00000078142	ENST00000262039	T	0.68765	-0.35	4.44	4.44	0.53790	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.46157	1.445	0.80722	D	1	B	0.21688	0.059	B	0.24155	0.051	T	0.57694	-0.7767	9	.	.	.	.	17.4576	0.87611	0.0:1.0:0.0:0.0	.	47	Q8NEB9	PK3C3_HUMAN	L	47	ENSP00000262039:S47L	.	S	+	2	0	PIK3C3	37791604	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.469000	0.80959	2.182000	0.69389	0.585000	0.79938	TCA	PIK3C3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,pirsf_PI3K_Vps34	ENSG00000078142		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	74	0.00	0	C	NM_002647		39537606	39537606	+1	no_errors	ENST00000262039	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	T
PIK3C3	5289	genome.wustl.edu	37	18	39537606	39537606	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:39537606C>T	ENST00000262039.4	+	2	226	c.140C>T	c.(139-141)tCa>tTa	p.S47L	PIK3C3_ENST00000586545.1_Missense_Mutation_p.S47L|PIK3C3_ENST00000590220.1_Intron|PIK3C3_ENST00000398870.3_Intron	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	47	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTGAAGTTCTCAGGACTATAT	0.423										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	dbGAP											0													145.0	146.0	146.0					18																	39537606		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.140C>T	18.37:g.39537606C>T	ENSP00000262039:p.Ser47Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.S47L	ENST00000262039.4	37	c.140	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521222	0.64747	.	.	ENSG00000078142	ENST00000262039	T	0.68765	-0.35	4.44	4.44	0.53790	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.61123	0.2322	L	0.46157	1.445	0.80722	D	1	B	0.21688	0.059	B	0.24155	0.051	T	0.57694	-0.7767	9	.	.	.	.	17.4576	0.87611	0.0:1.0:0.0:0.0	.	47	Q8NEB9	PK3C3_HUMAN	L	47	ENSP00000262039:S47L	.	S	+	2	0	PIK3C3	37791604	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.469000	0.80959	2.182000	0.69389	0.585000	0.79938	TCA	PIK3C3	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,pirsf_PI3K_Vps34	ENSG00000078142		0.423	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	48	0.00	0	C	NM_002647		39537606	39537606	+1	no_errors	ENST00000262039	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178922364	178922364	+	Missense_Mutation	SNP	G	G	T	rs397514565		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:178922364G>T	ENST00000263967.3	+	6	1290	c.1133G>T	c.(1132-1134)tGt>tTt	p.C378F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> Y (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.C378Y(2)|p.C378F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	3	Substitution - Missense(3)	endometrium(2)|central_nervous_system(1)											190.0	150.0	162.0					3																	178922364		1837	4093	5930	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1133G>T	3.37:g.178922364G>T	ENSP00000263967:p.Cys378Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.C378F	ENST00000263967.3	37	c.1133	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403669	0.42613	.	.	ENSG00000121879	ENST00000263967	T	0.73363	-0.74	5.61	5.61	0.85477	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.56499	0.1989	N	0.11064	0.09	0.80722	D	1	B	0.19935	0.04	B	0.17722	0.019	T	0.56098	-0.8035	10	0.06625	T	0.88	-17.9134	19.6274	0.95684	0.0:0.0:1.0:0.0	.	378	P42336	PK3CA_HUMAN	F	378	ENSP00000263967:C378F	ENSP00000263967:C378F	C	+	2	0	PIK3CA	180405058	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.382000	0.97209	2.643000	0.89663	0.650000	0.86243	TGT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	G			178922364	178922364	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936092	+	Missense_Mutation	DNP	GA	GA	AG	rs104886003|rs121913274		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:178936091_178936092GA>AG	ENST00000263967.3	+	10	1790_1791	c.1633_1634GA>AG	c.(1633-1635)GAg>AGg	p.E545R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545A(96)|p.E545G(78)|p.E545Q(18)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAAA	0.351	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1077	Substitution - Missense(1077)	breast(348)|large_intestine(325)|urinary_tract(105)|ovary(55)|endometrium(54)|lung(46)|skin(23)|stomach(21)|upper_aerodigestive_tract(20)|central_nervous_system(17)|cervix(13)|oesophagus(11)|thyroid(10)|soft_tissue(5)|penis(4)|liver(4)|kidney(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|NS(2)|pituitary(2)|eye(1)|biliary_tract(1)|prostate(1)																																								-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	Exception_encountered	3.37:g.178936091_178936092delinsAG	ENSP00000263967:p.Glu545Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K|p.E545G	ENST00000263967.3	37	c.1633|c.1634	CCDS43171.1	3																																																																																			PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.351	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	58	0.00	0	G|A			178936091|178936092	178936091|178936092	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	29	52.46|51.67	32|31	SNP	1.000	A|G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936092	+	Missense_Mutation	DNP	GA	GA	AG	rs104886003|rs121913274		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:178936091_178936092GA>AG	ENST00000263967.3	+	10	1790_1791	c.1633_1634GA>AG	c.(1633-1635)GAg>AGg	p.E545R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545A(96)|p.E545G(78)|p.E545Q(18)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAAA	0.351	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1077	Substitution - Missense(1077)	breast(348)|large_intestine(325)|urinary_tract(105)|ovary(55)|endometrium(54)|lung(46)|skin(23)|stomach(21)|upper_aerodigestive_tract(20)|central_nervous_system(17)|cervix(13)|oesophagus(11)|thyroid(10)|soft_tissue(5)|penis(4)|liver(4)|kidney(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(3)|NS(2)|pituitary(2)|eye(1)|biliary_tract(1)|prostate(1)																																								-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	Exception_encountered	3.37:g.178936091_178936092delinsAG	ENSP00000263967:p.Glu545Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K|p.E545G	ENST00000263967.3	37	c.1633|c.1634	CCDS43171.1	3																																																																																			PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.351	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	49|50	0.00	0	G|A			178936091|178936092	178936091|178936092	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	29	52.46|51.67	32|31	SNP	1.000	A|G
PKD1	5310	genome.wustl.edu	37	16	2140187	2140187	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:2140187G>C	ENST00000262304.4	-	46	12661	c.12453C>G	c.(12451-12453)caC>caG	p.H4151Q	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.H4150Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4151					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGACTTTGTGGCGGAACT	0.697																																						dbGAP											0													36.0	48.0	44.0					16																	2140187		2157	4232	6389	-	-	-	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12453C>G	16.37:g.2140187G>C	ENSP00000262304:p.His4151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.H4151Q	ENST00000262304.4	37	c.12453	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455396	0.43634	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39592	1.07;1.07	4.36	2.32	0.28847	.	0.000000	0.85682	U	0.000000	T	0.60728	0.2291	M	0.80746	2.51	0.38433	D	0.946495	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64824	-0.6316	10	0.66056	D	0.02	.	7.7788	0.29054	0.1573:0.1325:0.7102:0.0	.	4150;4151	P98161-3;P98161	.;PKD1_HUMAN	Q	4151;4150;3485	ENSP00000262304:H4151Q;ENSP00000399501:H4150Q	ENSP00000262304:H4151Q	H	-	3	2	PKD1	2080188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.697000	0.37784	1.044000	0.40200	0.491000	0.48974	CAC	PKD1	-	NULL	ENSG00000008710		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	17	0.00	0	G			2140187	2140187	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	C
PKD1	5310	genome.wustl.edu	37	16	2140187	2140187	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:2140187G>C	ENST00000262304.4	-	46	12661	c.12453C>G	c.(12451-12453)caC>caG	p.H4151Q	MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.H4150Q	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4151					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCGGACTTTGTGGCGGAACT	0.697																																						dbGAP											0													36.0	48.0	44.0					16																	2140187		2157	4232	6389	-	-	-	SO:0001583	missense	0			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.12453C>G	16.37:g.2140187G>C	ENSP00000262304:p.His4151Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat	p.H4151Q	ENST00000262304.4	37	c.12453	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455396	0.43634	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.39592	1.07;1.07	4.36	2.32	0.28847	.	0.000000	0.85682	U	0.000000	T	0.60728	0.2291	M	0.80746	2.51	0.38433	D	0.946495	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64824	-0.6316	10	0.66056	D	0.02	.	7.7788	0.29054	0.1573:0.1325:0.7102:0.0	.	4150;4151	P98161-3;P98161	.;PKD1_HUMAN	Q	4151;4150;3485	ENSP00000262304:H4151Q;ENSP00000399501:H4150Q	ENSP00000262304:H4151Q	H	-	3	2	PKD1	2080188	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.697000	0.37784	1.044000	0.40200	0.491000	0.48974	CAC	PKD1	-	NULL	ENSG00000008710		0.697	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	13	0.00	0	G			2140187	2140187	-1	no_errors	ENST00000262304	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	C
PKHD1	5314	genome.wustl.edu	37	6	51893112	51893112	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:51893112C>T	ENST00000371117.3	-	30	3677	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M1134I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1134	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCGTATAGTTCATCAGCCTCG	0.562																																						dbGAP											0													87.0	90.0	89.0					6																	51893112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3402G>A	6.37:g.51893112C>T	ENSP00000360158:p.Met1134Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.M1134I	ENST00000371117.3	37	c.3402	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365491	0.24684	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-1.93;-2.14	5.7	2.89	0.33648	Cell surface receptor IPT/TIG (1);	1.280330	0.05227	N	0.509646	T	0.58722	0.2142	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54629	-0.8265	10	0.40728	T	0.16	.	7.4397	0.27176	0.0:0.5994:0.2738:0.1268	.	1134;1134	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1134	ENSP00000360158:M1134I;ENSP00000341097:M1134I	ENSP00000341097:M1134I	M	-	3	0	PKHD1	52001071	0.000000	0.05858	0.018000	0.16275	0.042000	0.13812	-0.195000	0.09546	1.369000	0.46134	0.655000	0.94253	ATG	PKHD1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000170927		0.562	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	53	0.00	0	C	NM_138694		51893112	51893112	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	0.003	T
PKHD1	5314	genome.wustl.edu	37	6	51893112	51893112	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:51893112C>T	ENST00000371117.3	-	30	3677	c.3402G>A	c.(3400-3402)atG>atA	p.M1134I	PKHD1_ENST00000340994.4_Missense_Mutation_p.M1134I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1134	IPT/TIG 6; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCGTATAGTTCATCAGCCTCG	0.562																																						dbGAP											0													87.0	90.0	89.0					6																	51893112		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.3402G>A	6.37:g.51893112C>T	ENSP00000360158:p.Met1134Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.M1134I	ENST00000371117.3	37	c.3402	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	10.49	1.365491	0.24684	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86562	-1.93;-2.14	5.7	2.89	0.33648	Cell surface receptor IPT/TIG (1);	1.280330	0.05227	N	0.509646	T	0.58722	0.2142	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54629	-0.8265	10	0.40728	T	0.16	.	7.4397	0.27176	0.0:0.5994:0.2738:0.1268	.	1134;1134	P08F94-2;P08F94	.;PKHD1_HUMAN	I	1134	ENSP00000360158:M1134I;ENSP00000341097:M1134I	ENSP00000341097:M1134I	M	-	3	0	PKHD1	52001071	0.000000	0.05858	0.018000	0.16275	0.042000	0.13812	-0.195000	0.09546	1.369000	0.46134	0.655000	0.94253	ATG	PKHD1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000170927		0.562	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	48	0.00	0	C	NM_138694		51893112	51893112	-1	no_errors	ENST00000371117	ensembl	human	known	69_37n	missense	27	35.71	15	SNP	0.003	T
PKP3	11187	genome.wustl.edu	37	11	400018	400018	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:400018G>A	ENST00000331563.2	+	6	1401	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	442					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCCTGGCCAGAGACACGCTG	0.657																																						dbGAP											0													26.0	26.0	26.0					11																	400018		2171	4276	6447	-	-	-	SO:0001583	missense	0			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1325G>A	11.37:g.400018G>A	ENSP00000331678:p.Arg442Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R442K	ENST00000331563.2	37	c.1325	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	g	10.58	1.390098	0.25118	.	.	ENSG00000184363	ENST00000331563	T	0.46063	0.88	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.084484	0.45867	U	0.000337	T	0.34571	0.0902	L	0.40543	1.245	0.40970	D	0.984698	B	0.20459	0.045	B	0.13407	0.009	T	0.16630	-1.0396	10	0.17832	T	0.49	-4.7541	16.9419	0.86220	0.0:0.0:1.0:0.0	.	442	Q9Y446	PKP3_HUMAN	K	442	ENSP00000331678:R442K	ENSP00000331678:R442K	R	+	2	0	PKP3	390018	0.939000	0.31865	0.629000	0.29254	0.450000	0.32258	4.055000	0.57441	2.061000	0.61500	0.543000	0.68304	AGA	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000184363		0.657	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	48	0.00	0	G	NM_007183		400018	400018	+1	no_errors	ENST00000331563	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.801	A
PKP3	11187	genome.wustl.edu	37	11	400018	400018	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:400018G>A	ENST00000331563.2	+	6	1401	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	442					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCCTGGCCAGAGACACGCTG	0.657																																						dbGAP											0													26.0	26.0	26.0					11																	400018		2171	4276	6447	-	-	-	SO:0001583	missense	0			Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1325G>A	11.37:g.400018G>A	ENSP00000331678:p.Arg442Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8J390|Q53EX8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R442K	ENST00000331563.2	37	c.1325	CCDS7695.1	11	.	.	.	.	.	.	.	.	.	.	g	10.58	1.390098	0.25118	.	.	ENSG00000184363	ENST00000331563	T	0.46063	0.88	4.19	4.19	0.49359	Armadillo-like helical (1);Armadillo-type fold (1);	0.084484	0.45867	U	0.000337	T	0.34571	0.0902	L	0.40543	1.245	0.40970	D	0.984698	B	0.20459	0.045	B	0.13407	0.009	T	0.16630	-1.0396	10	0.17832	T	0.49	-4.7541	16.9419	0.86220	0.0:0.0:1.0:0.0	.	442	Q9Y446	PKP3_HUMAN	K	442	ENSP00000331678:R442K	ENSP00000331678:R442K	R	+	2	0	PKP3	390018	0.939000	0.31865	0.629000	0.29254	0.450000	0.32258	4.055000	0.57441	2.061000	0.61500	0.543000	0.68304	AGA	PKP3	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000184363		0.657	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP3	HGNC	protein_coding	OTTHUMT00000239281.1	50	0.00	0	G	NM_007183		400018	400018	+1	no_errors	ENST00000331563	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.801	A
PKP4	8502	genome.wustl.edu	37	2	159481554	159481554	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:159481554G>A	ENST00000389759.3	+	7	880	c.768G>A	c.(766-768)ctG>ctA	p.L256L	PKP4_ENST00000389757.3_Silent_p.L256L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	256					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCGACCTCTGAACCCCAGTG	0.572										HNSCC(62;0.18)																												dbGAP											0													81.0	84.0	83.0					2																	159481554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.768G>A	2.37:g.159481554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L256	ENST00000389759.3	37	c.768	CCDS33305.1	2																																																																																			PKP4	-	NULL	ENSG00000144283		0.572	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	48	0.00	0	G			159481554	159481554	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	0.998	A
PKP4	8502	genome.wustl.edu	37	2	159481554	159481554	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:159481554G>A	ENST00000389759.3	+	7	880	c.768G>A	c.(766-768)ctG>ctA	p.L256L	PKP4_ENST00000389757.3_Silent_p.L256L	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	256					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						CCCGACCTCTGAACCCCAGTG	0.572										HNSCC(62;0.18)																												dbGAP											0													81.0	84.0	83.0					2																	159481554		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.768G>A	2.37:g.159481554G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86W91	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.L256	ENST00000389759.3	37	c.768	CCDS33305.1	2																																																																																			PKP4	-	NULL	ENSG00000144283		0.572	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PKP4	HGNC	protein_coding	OTTHUMT00000333250.1	35	0.00	0	G			159481554	159481554	+1	no_errors	ENST00000389759	ensembl	human	known	69_37n	silent	21	32.26	10	SNP	0.998	A
PLA2G4D	283748	genome.wustl.edu	37	15	42362917	42362917	+	Missense_Mutation	SNP	C	C	G	rs148217224	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:42362917C>G	ENST00000290472.3	-	18	2135	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	681	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGGTACCTCGAAGGGCGCA	0.672																																						dbGAP											0													43.0	36.0	38.0					15																	42362917		2173	4246	6419	-	-	-	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2041G>C	15.37:g.42362917C>G	ENSP00000290472:p.Glu681Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E681Q	ENST00000290472.3	37	c.2041	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	C	2.129	-0.399591	0.04865	.	.	ENSG00000159337	ENST00000290472	T	0.15603	2.41	4.48	1.44	0.22558	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.546765	0.16864	N	0.196401	T	0.07908	0.0198	N	0.17082	0.46	0.22975	N	0.998489	B	0.02656	0.0	B	0.08055	0.003	T	0.37033	-0.9723	10	0.18710	T	0.47	-14.0173	4.1954	0.10441	0.0:0.5898:0.1923:0.2179	.	681	Q86XP0	PA24D_HUMAN	Q	681	ENSP00000290472:E681Q	ENSP00000290472:E681Q	E	-	1	0	PLA2G4D	40150209	1.000000	0.71417	0.995000	0.50966	0.176000	0.22953	0.708000	0.25719	0.205000	0.20568	0.585000	0.79938	GAG	PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.672	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	40	0.00	0	C	NM_178034		42362917	42362917	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.999	G
PLA2G4D	283748	genome.wustl.edu	37	15	42362917	42362917	+	Missense_Mutation	SNP	C	C	G	rs148217224	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:42362917C>G	ENST00000290472.3	-	18	2135	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	681	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGGTACCTCGAAGGGCGCA	0.672																																						dbGAP											0													43.0	36.0	38.0					15																	42362917		2173	4246	6419	-	-	-	SO:0001583	missense	0			AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.2041G>C	15.37:g.42362917C>G	ENSP00000290472:p.Glu681Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N176	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E681Q	ENST00000290472.3	37	c.2041	CCDS32203.1	15	.	.	.	.	.	.	.	.	.	.	C	2.129	-0.399591	0.04865	.	.	ENSG00000159337	ENST00000290472	T	0.15603	2.41	4.48	1.44	0.22558	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.546765	0.16864	N	0.196401	T	0.07908	0.0198	N	0.17082	0.46	0.22975	N	0.998489	B	0.02656	0.0	B	0.08055	0.003	T	0.37033	-0.9723	10	0.18710	T	0.47	-14.0173	4.1954	0.10441	0.0:0.5898:0.1923:0.2179	.	681	Q86XP0	PA24D_HUMAN	Q	681	ENSP00000290472:E681Q	ENSP00000290472:E681Q	E	-	1	0	PLA2G4D	40150209	1.000000	0.71417	0.995000	0.50966	0.176000	0.22953	0.708000	0.25719	0.205000	0.20568	0.585000	0.79938	GAG	PLA2G4D	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000159337		0.672	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4D	HGNC	protein_coding	OTTHUMT00000419317.1	36	0.00	0	C	NM_178034		42362917	42362917	-1	no_errors	ENST00000290472	ensembl	human	known	69_37n	missense	18	25.00	6	SNP	0.999	G
PLD4	122618	genome.wustl.edu	37	14	105397278	105397278	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:105397278C>G	ENST00000392593.4	+	7	1085	c.917C>G	c.(916-918)tCa>tGa	p.S306*	PLD4_ENST00000540372.1_Splice_Site_p.S313*|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	306					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCCTACTTCTCAGTAAGACGG	0.607																																						dbGAP											0													64.0	66.0	65.0					14																	105397278		1828	4082	5910	-	-	-	SO:0001630	splice_region_variant	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.918+1C>G	14.37:g.105397278C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWD2	Nonsense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.S306*	ENST00000392593.4	37	c.917	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	C	38	7.220458	0.98143	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	.	.	.	4.46	4.46	0.54185	.	0.336527	0.28772	N	0.014190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.7022	15.2504	0.73539	0.0:1.0:0.0:0.0	.	.	.	.	X	313;306	.	ENSP00000376372:S306X	S	+	2	0	PLD4	104468323	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	5.126000	0.64721	2.174000	0.68829	0.655000	0.94253	TCA	PLD4	-	NULL	ENSG00000166428		0.607	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2	46	0.00	0	C	NM_138790	Nonsense_Mutation	105397278	105397278	+1	no_errors	ENST00000392593	ensembl	human	known	69_37n	nonsense	21	25.00	7	SNP	1.000	G
PLD4	122618	genome.wustl.edu	37	14	105397278	105397278	+	Splice_Site	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:105397278C>G	ENST00000392593.4	+	7	1085	c.917C>G	c.(916-918)tCa>tGa	p.S306*	PLD4_ENST00000540372.1_Splice_Site_p.S313*|PLD4_ENST00000553861.1_5'Flank	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	306					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCCTACTTCTCAGTAAGACGG	0.607																																						dbGAP											0													64.0	66.0	65.0					14																	105397278		1828	4082	5910	-	-	-	SO:0001630	splice_region_variant	0				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.918+1C>G	14.37:g.105397278C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UWD2	Nonsense_Mutation	SNP	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase	p.S306*	ENST00000392593.4	37	c.917	CCDS9995.2	14	.	.	.	.	.	.	.	.	.	.	C	38	7.220458	0.98143	.	.	ENSG00000166428	ENST00000540372;ENST00000392593	.	.	.	4.46	4.46	0.54185	.	0.336527	0.28772	N	0.014190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.7022	15.2504	0.73539	0.0:1.0:0.0:0.0	.	.	.	.	X	313;306	.	ENSP00000376372:S306X	S	+	2	0	PLD4	104468323	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	5.126000	0.64721	2.174000	0.68829	0.655000	0.94253	TCA	PLD4	-	NULL	ENSG00000166428		0.607	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLD4	HGNC	protein_coding	OTTHUMT00000291348.2	38	0.00	0	C	NM_138790	Nonsense_Mutation	105397278	105397278	+1	no_errors	ENST00000392593	ensembl	human	known	69_37n	nonsense	21	25.00	7	SNP	1.000	G
PLVAP	83483	genome.wustl.edu	37	19	17487789	17487789	+	Silent	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:17487789C>A	ENST00000252590.4	-	1	370	c.309G>T	c.(307-309)ctG>ctT	p.L103L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	103					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGAGCATTCAGCCACATCT	0.622																																						dbGAP											0													113.0	97.0	103.0					19																	17487789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.309G>T	19.37:g.17487789C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	pfam_PV-1	p.L103	ENST00000252590.4	37	c.309	CCDS32952.1	19																																																																																			PLVAP	-	pfam_PV-1	ENSG00000130300		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	52	0.00	0	C	NM_031310		17487789	17487789	-1	no_errors	ENST00000252590	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.000	A
PLVAP	83483	genome.wustl.edu	37	19	17487789	17487789	+	Silent	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:17487789C>A	ENST00000252590.4	-	1	370	c.309G>T	c.(307-309)ctG>ctT	p.L103L		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	103					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCGAGCATTCAGCCACATCT	0.622																																						dbGAP											0													113.0	97.0	103.0					19																	17487789		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.309G>T	19.37:g.17487789C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	pfam_PV-1	p.L103	ENST00000252590.4	37	c.309	CCDS32952.1	19																																																																																			PLVAP	-	pfam_PV-1	ENSG00000130300		0.622	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLVAP	HGNC	protein_coding	OTTHUMT00000463655.1	37	0.00	0	C	NM_031310		17487789	17487789	-1	no_errors	ENST00000252590	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.000	A
PLXNB1	5364	genome.wustl.edu	37	3	48459322	48459322	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:48459322G>A	ENST00000358536.4	-	16	3641	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.S941S|PLXNB1_ENST00000296440.6_Silent_p.S1124S|PLXNB1_ENST00000358459.4_Silent_p.S941S|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1124	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTTACCTGCTGGAGACCT	0.687																																						dbGAP											0													40.0	39.0	39.0					3																	48459322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3372C>T	3.37:g.48459322G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1124	ENST00000358536.4	37	c.3372	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000164050		0.687	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	51	0.00	0	G	NM_002673		48459322	48459322	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	1.000	A
PLXNB1	5364	genome.wustl.edu	37	3	48459322	48459322	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:48459322G>A	ENST00000358536.4	-	16	3641	c.3372C>T	c.(3370-3372)agC>agT	p.S1124S	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Silent_p.S941S|PLXNB1_ENST00000296440.6_Silent_p.S1124S|PLXNB1_ENST00000358459.4_Silent_p.S941S|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1124	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCTTACCTGCTGGAGACCT	0.687																																						dbGAP											0													40.0	39.0	39.0					3																	48459322		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3372C>T	3.37:g.48459322G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1124	ENST00000358536.4	37	c.3372	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000164050		0.687	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	34	0.00	0	G	NM_002673		48459322	48459322	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	1.000	A
PMS2P3	5387	genome.wustl.edu	37	7	75155308	75155308	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:75155308C>G	ENST00000418756.1	-	0	559					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						GGGGCAGAAGCAGGTCACTGA	0.468																																					NSCLC(70;602 1339 5301 18528 38453)	dbGAP											0													23.0	22.0	22.0					7																	75155308		692	1590	2282	-	-	-			0			D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75155308C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG70|Q3MJ29	RNA	SNP	-	NULL	ENST00000418756.1	37	NULL		7																																																																																			PMS2P3	-	-	ENSG00000127957		0.468	PMS2P3-002	KNOWN	basic	processed_transcript	PMS2P3	HGNC	pseudogene	OTTHUMT00000342862.2	102	0.00	0	C	NR_028059		75155308	75155308	-1	no_errors	ENST00000437568	ensembl	human	known	69_37n	rna	59	27.16	22	SNP	0.080	G
PMS2P3	5387	genome.wustl.edu	37	7	75155308	75155308	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:75155308C>G	ENST00000418756.1	-	0	559					NR_028059.1		Q13401	PM2P3_HUMAN	postmeiotic segregation increased 2 pseudogene 3						mismatch repair (GO:0006298)|regulation of transcription, DNA-templated (GO:0006355)	mismatch repair complex (GO:0032300)	nucleic acid binding (GO:0003676)			lung(1)	1						GGGGCAGAAGCAGGTCACTGA	0.468																																					NSCLC(70;602 1339 5301 18528 38453)	dbGAP											0													23.0	22.0	22.0					7																	75155308		692	1590	2282	-	-	-			0			D38437		7q11.23	2010-10-26	2010-10-26	2010-10-26	ENSG00000127957	ENSG00000127957			9128	pseudogene	pseudogene			"""postmeiotic segregation increased 2-like 3"", ""postmeiotic segregation increased 2-like 3, pseudogene"""	PMS2L9, PMS2L3		8586419	Standard	NR_028059		Approved	PMS5, PMSR3	uc022agi.1	Q13401	OTTHUMG00000156049		7.37:g.75155308C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG70|Q3MJ29	RNA	SNP	-	NULL	ENST00000418756.1	37	NULL		7																																																																																			PMS2P3	-	-	ENSG00000127957		0.468	PMS2P3-002	KNOWN	basic	processed_transcript	PMS2P3	HGNC	pseudogene	OTTHUMT00000342862.2	82	0.00	0	C	NR_028059		75155308	75155308	-1	no_errors	ENST00000437568	ensembl	human	known	69_37n	rna	59	27.16	22	SNP	0.080	G
POLRMT	5442	genome.wustl.edu	37	19	630136	630136	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:630136C>T	ENST00000588649.2	-	3	310	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	76					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACGCTCTCAGCCTGCAGC	0.652																																						dbGAP											0													44.0	49.0	48.0					19																	630136		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.226G>A	19.37:g.630136C>T	ENSP00000465759:p.Glu76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.E91K	ENST00000588649.2	37	c.271	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521270	0.64747	.	.	ENSG00000099821	ENST00000215591	T	0.47177	0.85	4.4	4.4	0.53042	.	0.291545	0.31438	N	0.007646	T	0.32941	0.0846	L	0.34521	1.04	0.09310	N	1	P	0.37781	0.608	B	0.37047	0.24	T	0.14117	-1.0484	10	0.16420	T	0.52	-22.3702	9.7945	0.40726	0.0:0.892:0.0:0.108	.	76	O00411	RPOM_HUMAN	K	76	ENSP00000215591:E76K	ENSP00000215591:E76K	E	-	1	0	POLRMT	581136	0.004000	0.15560	0.098000	0.21074	0.430000	0.31655	1.305000	0.33493	2.020000	0.59435	0.485000	0.47835	GAG	POLRMT	-	NULL	ENSG00000099821		0.652	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	82	0.00	0	C	NM_005035		630136	630136	-1	no_errors	ENST00000588649	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.086	T
POLRMT	5442	genome.wustl.edu	37	19	630136	630136	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:630136C>T	ENST00000588649.2	-	3	310	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	76					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACACGCTCTCAGCCTGCAGC	0.652																																						dbGAP											0													44.0	49.0	48.0					19																	630136		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.226G>A	19.37:g.630136C>T	ENSP00000465759:p.Glu76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60370	Missense_Mutation	SNP	pfam_DNA-dir_Rpol_phage-type	p.E91K	ENST00000588649.2	37	c.271	CCDS12036.1	19	.	.	.	.	.	.	.	.	.	.	C	17.98	3.521270	0.64747	.	.	ENSG00000099821	ENST00000215591	T	0.47177	0.85	4.4	4.4	0.53042	.	0.291545	0.31438	N	0.007646	T	0.32941	0.0846	L	0.34521	1.04	0.09310	N	1	P	0.37781	0.608	B	0.37047	0.24	T	0.14117	-1.0484	10	0.16420	T	0.52	-22.3702	9.7945	0.40726	0.0:0.892:0.0:0.108	.	76	O00411	RPOM_HUMAN	K	76	ENSP00000215591:E76K	ENSP00000215591:E76K	E	-	1	0	POLRMT	581136	0.004000	0.15560	0.098000	0.21074	0.430000	0.31655	1.305000	0.33493	2.020000	0.59435	0.485000	0.47835	GAG	POLRMT	-	NULL	ENSG00000099821		0.652	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	HGNC	protein_coding	OTTHUMT00000452172.3	49	0.00	0	C	NM_005035		630136	630136	-1	no_errors	ENST00000588649	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.086	T
POTEC	388468	genome.wustl.edu	37	18	14543280	14543280	+	5'Flank	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:14543280C>G	ENST00000358970.5	-	0	0				POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C											NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AACTTGCCAACCCCAGCAAGG	0.587																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963		18.37:g.14543280C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000358970.5	37	NULL	CCDS45835.1	18																																																																																			POTEC	-	-	ENSG00000183206		0.587	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	53	0.00	0	C	XM_496269		14543280	14543280	-1	no_errors	ENST00000389891	ensembl	human	known	69_37n	rna	34	12.82	5	SNP	0.033	G
POU2F2	5452	genome.wustl.edu	37	19	42599709	42599709	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:42599709C>T	ENST00000526816.2	-	10	957	c.942G>A	c.(940-942)aaG>aaA	p.K314K	POU2F2_ENST00000389341.5_Silent_p.K298K|POU2F2_ENST00000529067.1_Silent_p.K298K|POU2F2_ENST00000533720.1_Silent_p.K298K|POU2F2_ENST00000342301.4_Silent_p.K314K|POU2F2_ENST00000560558.1_Silent_p.K259K|POU2F2_ENST00000529952.1_Silent_p.K314K|POU2F2_ENST00000560398.1_Silent_p.K320K			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	314					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CTAGAAAACTCTTCTCTAAGG	0.662																																						dbGAP											0													31.0	33.0	32.0					19																	42599709		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.942G>A	19.37:g.42599709C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.K314	ENST00000526816.2	37	c.942	CCDS56095.1	19																																																																																			POU2F2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000028277		0.662	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	23	0.00	0	C			42599709	42599709	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	1.000	T
POU2F2	5452	genome.wustl.edu	37	19	42599709	42599709	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:42599709C>T	ENST00000526816.2	-	10	957	c.942G>A	c.(940-942)aaG>aaA	p.K314K	POU2F2_ENST00000389341.5_Silent_p.K298K|POU2F2_ENST00000529067.1_Silent_p.K298K|POU2F2_ENST00000533720.1_Silent_p.K298K|POU2F2_ENST00000342301.4_Silent_p.K314K|POU2F2_ENST00000560558.1_Silent_p.K259K|POU2F2_ENST00000529952.1_Silent_p.K314K|POU2F2_ENST00000560398.1_Silent_p.K320K			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	314					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	CTAGAAAACTCTTCTCTAAGG	0.662																																						dbGAP											0													31.0	33.0	32.0					19																	42599709		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.942G>A	19.37:g.42599709C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.K314	ENST00000526816.2	37	c.942	CCDS56095.1	19																																																																																			POU2F2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000028277		0.662	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	28	0.00	0	C			42599709	42599709	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	1.000	T
POU2F2	5452	genome.wustl.edu	37	19	42599751	42599751	+	Missense_Mutation	SNP	C	C	G	rs373724008		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:42599751C>G	ENST00000526816.2	-	10	915	c.900G>C	c.(898-900)aaG>aaC	p.K300N	POU2F2_ENST00000389341.5_Missense_Mutation_p.K284N|POU2F2_ENST00000529067.1_Missense_Mutation_p.K284N|POU2F2_ENST00000533720.1_Missense_Mutation_p.K284N|POU2F2_ENST00000342301.4_Missense_Mutation_p.K300N|POU2F2_ENST00000560558.1_Missense_Mutation_p.K245N|POU2F2_ENST00000529952.1_Missense_Mutation_p.K300N|POU2F2_ENST00000560398.1_Missense_Mutation_p.K306N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	300					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGCTGGTCCTCTTCTTGCGTC	0.642																																						dbGAP											0													33.0	35.0	35.0					19																	42599751		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.900G>C	19.37:g.42599751C>G	ENSP00000431603:p.Lys300Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.K300N	ENST00000526816.2	37	c.900	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125549	0.77436	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D;D	0.97041	-4.08;-4.08;-4.08;-4.22;-4.08;-4.08	4.09	4.09	0.47781	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	9.4236	0.38565	0.0:0.8995:0.0:0.1005	.	284;300;284	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	N	284;300;300;284;299;284;300	ENSP00000373992:K284N;ENSP00000339369:K300N;ENSP00000437221:K284N;ENSP00000431603:K299N;ENSP00000437224:K284N;ENSP00000436988:K300N	ENSP00000292077:K300N	K	-	3	2	POU2F2	47291591	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	0.256000	0.18351	2.271000	0.75665	0.655000	0.94253	AAG	POU2F2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000028277		0.642	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	32	0.00	0	C			42599751	42599751	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	G
POU2F2	5452	genome.wustl.edu	37	19	42599751	42599751	+	Missense_Mutation	SNP	C	C	G	rs373724008		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:42599751C>G	ENST00000526816.2	-	10	915	c.900G>C	c.(898-900)aaG>aaC	p.K300N	POU2F2_ENST00000389341.5_Missense_Mutation_p.K284N|POU2F2_ENST00000529067.1_Missense_Mutation_p.K284N|POU2F2_ENST00000533720.1_Missense_Mutation_p.K284N|POU2F2_ENST00000342301.4_Missense_Mutation_p.K300N|POU2F2_ENST00000560558.1_Missense_Mutation_p.K245N|POU2F2_ENST00000529952.1_Missense_Mutation_p.K300N|POU2F2_ENST00000560398.1_Missense_Mutation_p.K306N			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	300					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	TGCTGGTCCTCTTCTTGCGTC	0.642																																						dbGAP											0													33.0	35.0	35.0					19																	42599751		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.900G>C	19.37:g.42599751C>G	ENSP00000431603:p.Lys300Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer	p.K300N	ENST00000526816.2	37	c.900	CCDS56095.1	19	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125549	0.77436	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529067;ENST00000529952	D;D;D;D;D;D	0.97041	-4.08;-4.08;-4.08;-4.22;-4.08;-4.08	4.09	4.09	0.47781	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.97798	0.9277	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.99;1.0	D	0.97680	1.0172	10	0.87932	D	0	.	9.4236	0.38565	0.0:0.8995:0.0:0.1005	.	284;300;284	P09086-4;P09086;P09086-3	.;PO2F2_HUMAN;.	N	284;300;300;284;299;284;300	ENSP00000373992:K284N;ENSP00000339369:K300N;ENSP00000437221:K284N;ENSP00000431603:K299N;ENSP00000437224:K284N;ENSP00000436988:K300N	ENSP00000292077:K300N	K	-	3	2	POU2F2	47291591	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	0.256000	0.18351	2.271000	0.75665	0.655000	0.94253	AAG	POU2F2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_POU	ENSG00000028277		0.642	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POU2F2	HGNC	protein_coding	OTTHUMT00000387329.3	28	0.00	0	C			42599751	42599751	-1	no_errors	ENST00000342301	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	G
PPP2R5D	5528	genome.wustl.edu	37	6	42978724	42978724	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:42978724G>C	ENST00000485511.1	+	15	1839	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E522Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E448Q|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E546Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	554					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557																																					Melanoma(63;587 1613 29742 31770)	dbGAP											0													82.0	83.0	83.0					6																	42978724		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1660G>C	6.37:g.42978724G>C	ENSP00000417963:p.Glu554Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E554Q	ENST00000485511.1	37	c.1660	CCDS4878.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.640228|2.640228	0.47153|0.47153	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.84|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.054996|.	0.64402|.	D|.	0.000001|.	T|.	0.64091|.	0.2567|.	L|L	0.59436|0.59436	1.845|1.845	0.45403|0.45403	D|D	0.998386|0.998386	B;B;B;B|.	0.17465|.	0.004;0.016;0.022;0.016|.	B;B;B;B|.	0.25405|.	0.021;0.06;0.027;0.06|.	T|.	0.62215|.	-0.6901|.	10|.	0.30078|.	T|.	0.28|.	-18.4129|-18.4129	16.9003|16.9003	0.86112|0.86112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	448;536;554;522|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	Q|S	554;522;546;536;448|455	ENSP00000417963:E554Q;ENSP00000377669:E522Q;ENSP00000420550:E546Q;ENSP00000420674:E448Q|.	ENSP00000377669:E522Q|.	E|X	+|+	1|2	0|2	PPP2R5D|PPP2R5D	43086702|43086702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.571000|7.571000	0.82399|0.82399	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GAG|TGA	PPP2R5D	-	pirsf_PP2A_B56	ENSG00000112640		0.557	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	47	0.00	0	G	NM_006245		42978724	42978724	+1	no_errors	ENST00000485511	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	C
PPP2R5D	5528	genome.wustl.edu	37	6	42978724	42978724	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:42978724G>C	ENST00000485511.1	+	15	1839	c.1660G>C	c.(1660-1662)Gag>Cag	p.E554Q	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E522Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E448Q|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E546Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	554					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTGGAGACTGAGGCTGTTCA	0.557																																					Melanoma(63;587 1613 29742 31770)	dbGAP											0													82.0	83.0	83.0					6																	42978724		2203	4300	6503	-	-	-	SO:0001583	missense	0			L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1660G>C	6.37:g.42978724G>C	ENSP00000417963:p.Glu554Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E554Q	ENST00000485511.1	37	c.1660	CCDS4878.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.640228|2.640228	0.47153|0.47153	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.84|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.054996|.	0.64402|.	D|.	0.000001|.	T|.	0.64091|.	0.2567|.	L|L	0.59436|0.59436	1.845|1.845	0.45403|0.45403	D|D	0.998386|0.998386	B;B;B;B|.	0.17465|.	0.004;0.016;0.022;0.016|.	B;B;B;B|.	0.25405|.	0.021;0.06;0.027;0.06|.	T|.	0.62215|.	-0.6901|.	10|.	0.30078|.	T|.	0.28|.	-18.4129|-18.4129	16.9003|16.9003	0.86112|0.86112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	448;536;554;522|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	Q|S	554;522;546;536;448|455	ENSP00000417963:E554Q;ENSP00000377669:E522Q;ENSP00000420550:E546Q;ENSP00000420674:E448Q|.	ENSP00000377669:E522Q|.	E|X	+|+	1|2	0|2	PPP2R5D|PPP2R5D	43086702|43086702	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	7.571000|7.571000	0.82399|0.82399	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GAG|TGA	PPP2R5D	-	pirsf_PP2A_B56	ENSG00000112640		0.557	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP2R5D	HGNC	protein_coding	OTTHUMT00000040573.3	47	0.00	0	G	NM_006245		42978724	42978724	+1	no_errors	ENST00000485511	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	1.000	C
PREX2	80243	genome.wustl.edu	37	8	69104584	69104584	+	Silent	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:69104584C>A	ENST00000288368.4	+	37	4705	c.4428C>A	c.(4426-4428)ctC>ctA	p.L1476L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1476					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAGGCCTCTCAACGCTTTGG	0.433																																						dbGAP											0													83.0	72.0	76.0					8																	69104584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4428C>A	8.37:g.69104584C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1476	ENST00000288368.4	37	c.4428	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.433	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	43	0.00	0	C	NM_025170		69104584	69104584	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	1.000	A
PREX2	80243	genome.wustl.edu	37	8	69104584	69104584	+	Silent	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:69104584C>A	ENST00000288368.4	+	37	4705	c.4428C>A	c.(4426-4428)ctC>ctA	p.L1476L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1476					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGAGGCCTCTCAACGCTTTGG	0.433																																						dbGAP											0													83.0	72.0	76.0					8																	69104584		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.4428C>A	8.37:g.69104584C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Silent	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L1476	ENST00000288368.4	37	c.4428	CCDS6201.1	8																																																																																			PREX2	-	NULL	ENSG00000046889		0.433	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	50	0.00	0	C	NM_025170		69104584	69104584	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	silent	27	18.18	6	SNP	1.000	A
PRH1	5554	genome.wustl.edu	37	12	11036778	11036778	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:11036778G>A	ENST00000428168.2	-	1	76	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	13						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGCTGAGCTGAAGGCCAGCA	0.488																																						dbGAP											0													80.0	80.0	80.0					12																	11036778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.39C>T	12.37:g.11036778G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	NULL	p.F13	ENST00000428168.2	37	c.39		12																																																																																			PRH1	-	NULL	ENSG00000231887		0.488	PRH1-201	KNOWN	basic|appris_principal	protein_coding	PRH1	HGNC	protein_coding		90	0.00	0	G	NM_006250		11036778	11036778	-1	no_errors	ENST00000428168	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.721	A
PRH1	5554	genome.wustl.edu	37	12	11036778	11036778	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:11036778G>A	ENST00000428168.2	-	1	76	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PRR4_ENST00000536668.1_5'UTR	NM_006250.3	NP_006241.2	P02810	PRPC_HUMAN	proline-rich protein HaeIII subfamily 1	13						extracellular space (GO:0005615)				endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(232;0.245)		GAGCTGAGCTGAAGGCCAGCA	0.488																																						dbGAP											0													80.0	80.0	80.0					12																	11036778		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0					12p13.2	2013-05-10			ENSG00000231887	ENSG00000231887			9366	protein-coding gene	gene with protein product		168730				3009472	Standard	NM_001291314		Approved	Pa	uc021qvf.1	P02810		ENST00000428168.2:c.39C>T	12.37:g.11036778G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCM0|A3KN66|A5D902|B2RMW2|Q4VBP2|Q53XA2|Q6P2F6	Silent	SNP	NULL	p.F13	ENST00000428168.2	37	c.39		12																																																																																			PRH1	-	NULL	ENSG00000231887		0.488	PRH1-201	KNOWN	basic|appris_principal	protein_coding	PRH1	HGNC	protein_coding		79	0.00	0	G	NM_006250		11036778	11036778	-1	no_errors	ENST00000428168	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.721	A
PRKAG1	5571	genome.wustl.edu	37	12	49397660	49397660	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:49397660C>T	ENST00000548065.1	-	9	1039	c.583G>A	c.(583-585)Gag>Aag	p.E195K	PRKAG1_ENST00000395170.3_Missense_Mutation_p.E111K|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.E204K|PRKAG1_ENST00000547306.1_Missense_Mutation_p.E144K|PRKAG1_ENST00000552212.1_Missense_Mutation_p.E163K|RP11-386G11.5_ENST00000552284.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	195					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	ATCTGTAGCTCTTCCAGAGAC	0.498																																						dbGAP											0													125.0	127.0	127.0					12																	49397660		2203	4300	6503	-	-	-	SO:0001583	missense	0			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.583G>A	12.37:g.49397660C>T	ENSP00000447433:p.Glu195Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDT7|Q8N7V9	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.E195K	ENST00000548065.1	37	c.583	CCDS8777.1	12	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856515	0.71834	.	.	ENSG00000181929	ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000548950	D;D;D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04	5.12	4.24	0.50183	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (1);	0.101661	0.64402	D	0.000003	D	0.92567	0.7639	M	0.83483	2.645	0.80722	D	1	B;B	0.30406	0.278;0.177	B;B	0.35813	0.211;0.201	D	0.91946	0.5567	10	0.56958	D	0.05	-10.4805	12.8428	0.57813	0.0:0.9198:0.0:0.0802	.	204;195	Q8N7V9;P54619	.;AAKG1_HUMAN	K	111;144;204;195;163;111	ENSP00000378599:E111K;ENSP00000448873:E144K;ENSP00000323867:E204K;ENSP00000447433:E195K;ENSP00000448972:E163K;ENSP00000450112:E111K	ENSP00000323867:E204K	E	-	1	0	PRKAG1	47683927	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.667000	0.61561	1.392000	0.46585	0.591000	0.81541	GAG	PRKAG1	-	pfam_Cysta_beta_synth_core	ENSG00000181929		0.498	PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG1	HGNC	protein_coding	OTTHUMT00000408946.1	41	0.00	0	C	NM_002733		49397660	49397660	-1	no_errors	ENST00000548065	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48843275	48843275	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:48843275G>T	ENST00000314191.2	-	17	1905	c.1849C>A	c.(1849-1851)Cct>Act	p.P617T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P617T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	617					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATCTTTAGGTTTAGCTGGA	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													57.0	56.0	56.0					8																	48843275		1835	4082	5917	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1849C>A	8.37:g.48843275G>T	ENSP00000313420:p.Pro617Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P617T	ENST00000314191.2	37	c.1849		8	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000664	0.35320	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03212	4.07;4.01	5.81	5.81	0.92471	Armadillo-type fold (1);	0.349959	0.31123	N	0.008210	T	0.07234	0.0183	.	.	.	0.45330	D	0.998321	P;P;P	0.45902	0.735;0.616;0.868	B;B;B	0.41036	0.284;0.147;0.346	T	0.05716	-1.0868	9	0.66056	D	0.02	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	617;617;617	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	617	ENSP00000313420:P617T;ENSP00000345182:P617T	ENSP00000313420:P617T	P	-	1	0	PRKDC	49005828	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.931000	0.56529	2.749000	0.94314	0.460000	0.39030	CCT	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		62	0.00	0	G	NM_001081640		48843275	48843275	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48843275	48843275	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:48843275G>T	ENST00000314191.2	-	17	1905	c.1849C>A	c.(1849-1851)Cct>Act	p.P617T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P617T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	617					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AAATCTTTAGGTTTAGCTGGA	0.368								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													57.0	56.0	56.0					8																	48843275		1835	4082	5917	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1849C>A	8.37:g.48843275G>T	ENSP00000313420:p.Pro617Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P617T	ENST00000314191.2	37	c.1849		8	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000664	0.35320	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.03212	4.07;4.01	5.81	5.81	0.92471	Armadillo-type fold (1);	0.349959	0.31123	N	0.008210	T	0.07234	0.0183	.	.	.	0.45330	D	0.998321	P;P;P	0.45902	0.735;0.616;0.868	B;B;B	0.41036	0.284;0.147;0.346	T	0.05716	-1.0868	9	0.66056	D	0.02	.	20.0755	0.97742	0.0:0.0:1.0:0.0	.	617;617;617	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	T	617	ENSP00000313420:P617T;ENSP00000345182:P617T	ENSP00000313420:P617T	P	-	1	0	PRKDC	49005828	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	3.931000	0.56529	2.749000	0.94314	0.460000	0.39030	CCT	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.368	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		53	0.00	0	G	NM_001081640		48843275	48843275	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	T
PRODH2	58510	genome.wustl.edu	37	19	36303267	36303267	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:36303267C>G	ENST00000301175.3	-	3	611	c.594G>C	c.(592-594)aaG>aaC	p.K198N		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	198					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCCACTCTTGGCAGCAG	0.677																																						dbGAP											0													69.0	72.0	71.0					19																	36303267		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.594G>C	19.37:g.36303267C>G	ENSP00000301175:p.Lys198Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Proline_DH	p.K198N	ENST00000301175.3	37	c.594	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	7.950	0.744650	0.15710	.	.	ENSG00000250799	ENST00000301175	T	0.26067	1.76	5.56	1.02	0.19986	.	.	.	.	.	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.28808	-1.0032	9	0.22109	T	0.4	.	4.6219	0.12460	0.0:0.5361:0.162:0.3019	.	198	Q9UF12	PROD2_HUMAN	N	198	ENSP00000301175:K198N	ENSP00000301175:K198N	K	-	3	2	PRODH2	40995107	0.891000	0.30450	0.762000	0.31397	0.072000	0.16883	1.681000	0.37618	0.681000	0.31386	-0.137000	0.14449	AAG	PRODH2	-	NULL	ENSG00000250799		0.677	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	67	0.00	0	C	NM_021232		36303267	36303267	-1	no_errors	ENST00000301175	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.001	G
PRODH2	58510	genome.wustl.edu	37	19	36303267	36303267	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:36303267C>G	ENST00000301175.3	-	3	611	c.594G>C	c.(592-594)aaG>aaC	p.K198N		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	198					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCACCCACTCTTGGCAGCAG	0.677																																						dbGAP											0													69.0	72.0	71.0					19																	36303267		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.594G>C	19.37:g.36303267C>G	ENSP00000301175:p.Lys198Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Proline_DH	p.K198N	ENST00000301175.3	37	c.594	CCDS12478.1	19	.	.	.	.	.	.	.	.	.	.	C	7.950	0.744650	0.15710	.	.	ENSG00000250799	ENST00000301175	T	0.26067	1.76	5.56	1.02	0.19986	.	.	.	.	.	T	0.15003	0.0362	L	0.29908	0.895	0.09310	N	0.999999	B	0.12630	0.006	B	0.10450	0.005	T	0.28808	-1.0032	9	0.22109	T	0.4	.	4.6219	0.12460	0.0:0.5361:0.162:0.3019	.	198	Q9UF12	PROD2_HUMAN	N	198	ENSP00000301175:K198N	ENSP00000301175:K198N	K	-	3	2	PRODH2	40995107	0.891000	0.30450	0.762000	0.31397	0.072000	0.16883	1.681000	0.37618	0.681000	0.31386	-0.137000	0.14449	AAG	PRODH2	-	NULL	ENSG00000250799		0.677	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	66	0.00	0	C	NM_021232		36303267	36303267	-1	no_errors	ENST00000301175	ensembl	human	known	69_37n	missense	32	20.00	8	SNP	0.001	G
PROX2	283571	genome.wustl.edu	37	14	75329873	75329873	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:75329873G>A	ENST00000445876.1	-	1	664	c.665C>T	c.(664-666)tCa>tTa	p.S222L	PROX2_ENST00000556489.2_Missense_Mutation_p.S222L|PROX2_ENST00000556084.2_Missense_Mutation_p.S222L			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AATCTCTAGTGAAGCTGGTGC	0.537																																						dbGAP											0													61.0	59.0	60.0					14																	75329873		1937	4138	6075	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.665C>T	14.37:g.75329873G>A	ENSP00000405932:p.Ser222Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S222L	ENST00000445876.1	37	c.665	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.011|0.011	-1.735277|-1.735277	0.00681|0.00681	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.35973	.|1.28;1.28	5.81|5.81	2.07|2.07	0.26955|0.26955	.|.	.|0.615116	.|0.15578	.|N	.|0.255083	T|T	0.12646|0.12646	0.0307|0.0307	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.34378|0.34378	-0.9831|-0.9831	5|10	.|0.02654	.|T	.|1	-0.1391|-0.1391	7.7096|7.7096	0.28669|0.28669	0.6665:0.2643:0.0692:0.0|0.6665:0.2643:0.0692:0.0	.|.	.|222;222	.|G3V3G0;Q3B8N5-2	.|.;.	Y|L	222|222	.|ENSP00000451223:S222L;ENSP00000405932:S222L	.|ENSP00000374315:S222L	H|S	-|-	1|2	0|0	PROX2|PROX2	74399626|74399626	0.240000|0.240000	0.23847|0.23847	0.049000|0.049000	0.19019|0.19019	0.002000|0.002000	0.02628|0.02628	3.761000|3.761000	0.55242|0.55242	0.104000|0.104000	0.17725|0.17725	-0.378000|-0.378000	0.06908|0.06908	CAC|TCA	PROX2	-	NULL	ENSG00000119608		0.537	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		52	0.00	0	G			75329873	75329873	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.104	A
PROX2	283571	genome.wustl.edu	37	14	75329873	75329873	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:75329873G>A	ENST00000445876.1	-	1	664	c.665C>T	c.(664-666)tCa>tTa	p.S222L	PROX2_ENST00000556489.2_Missense_Mutation_p.S222L|PROX2_ENST00000556084.2_Missense_Mutation_p.S222L			Q3B8N5	PROX2_HUMAN	prospero homeobox 2	222					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AATCTCTAGTGAAGCTGGTGC	0.537																																						dbGAP											0													61.0	59.0	60.0					14																	75329873		1937	4138	6075	-	-	-	SO:0001583	missense	0				CCDS45136.1, CCDS45136.2, CCDS73663.1	14q24.3	2012-10-02			ENSG00000119608	ENSG00000119608		"""Homeoboxes / PROS class"""	26715	protein-coding gene	gene with protein product		615094					Standard	NM_001080408		Approved	FLJ36749	uc031qpi.1	Q3B8N5	OTTHUMG00000171481	ENST00000445876.1:c.665C>T	14.37:g.75329873G>A	ENSP00000405932:p.Ser222Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J5W1|Q8N9Q3	Missense_Mutation	SNP	pfam_Prox1,superfamily_Homeodomain-like	p.S222L	ENST00000445876.1	37	c.665	CCDS45136.2	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.011|0.011	-1.735277|-1.735277	0.00681|0.00681	.|.	.|.	ENSG00000119608|ENSG00000119608	ENST00000556084|ENST00000556489;ENST00000389664;ENST00000424024;ENST00000445876	.|T;T	.|0.35973	.|1.28;1.28	5.81|5.81	2.07|2.07	0.26955|0.26955	.|.	.|0.615116	.|0.15578	.|N	.|0.255083	T|T	0.12646|0.12646	0.0307|0.0307	N|N	0.03608|0.03608	-0.345|-0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.34378|0.34378	-0.9831|-0.9831	5|10	.|0.02654	.|T	.|1	-0.1391|-0.1391	7.7096|7.7096	0.28669|0.28669	0.6665:0.2643:0.0692:0.0|0.6665:0.2643:0.0692:0.0	.|.	.|222;222	.|G3V3G0;Q3B8N5-2	.|.;.	Y|L	222|222	.|ENSP00000451223:S222L;ENSP00000405932:S222L	.|ENSP00000374315:S222L	H|S	-|-	1|2	0|0	PROX2|PROX2	74399626|74399626	0.240000|0.240000	0.23847|0.23847	0.049000|0.049000	0.19019|0.19019	0.002000|0.002000	0.02628|0.02628	3.761000|3.761000	0.55242|0.55242	0.104000|0.104000	0.17725|0.17725	-0.378000|-0.378000	0.06908|0.06908	CAC|TCA	PROX2	-	NULL	ENSG00000119608		0.537	PROX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROX2	HGNC	protein_coding		39	0.00	0	G			75329873	75329873	-1	no_errors	ENST00000445876	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.104	A
PRR5L	79899	genome.wustl.edu	37	11	36472831	36472831	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:36472831C>G	ENST00000378867.3	+	9	1013	c.658C>G	c.(658-660)Cct>Gct	p.P220A	PRR5L_ENST00000530639.1_Missense_Mutation_p.P220A|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.P147A	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	220					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGTGGTTTCTCCTTTCCTCGG	0.532																																						dbGAP											0													179.0	147.0	158.0					11																	36472831		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.658C>G	11.37:g.36472831C>G	ENSP00000368144:p.Pro220Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.P220A	ENST00000378867.3	37	c.658	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956306	0.73902	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.74526	-0.23;-0.85;-0.23	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.80982	2.52	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	D	0.88950	0.3386	10	0.87932	D	0	-12.4442	18.2305	0.89934	0.0:1.0:0.0:0.0	.	92;220	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	A	220;147;220	ENSP00000435050:P220A;ENSP00000310103:P147A;ENSP00000368144:P220A	ENSP00000310103:P147A	P	+	1	0	PRR5L	36429407	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.761000	0.68801	2.417000	0.82017	0.313000	0.20887	CCT	PRR5L	-	NULL	ENSG00000135362		0.532	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	129	0.00	0	C	NM_024841		36472831	36472831	+1	no_errors	ENST00000378867	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	1.000	G
PRR5L	79899	genome.wustl.edu	37	11	36472831	36472831	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:36472831C>G	ENST00000378867.3	+	9	1013	c.658C>G	c.(658-660)Cct>Gct	p.P220A	PRR5L_ENST00000530639.1_Missense_Mutation_p.P220A|PRR5L_ENST00000527487.1_Intron|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000311599.5_Missense_Mutation_p.P147A	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	220					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of signal transduction (GO:0009968)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|regulation of fibroblast migration (GO:0010762)|TORC2 signaling (GO:0038203)	mitochondrion (GO:0005739)|TORC2 complex (GO:0031932)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						AGTGGTTTCTCCTTTCCTCGG	0.532																																						dbGAP											0													179.0	147.0	158.0					11																	36472831		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS31463.1, CCDS53617.1	11p13-p12	2009-07-09				ENSG00000135362			25878	protein-coding gene	gene with protein product	"""protein observed with Rictor-2"""	611728				17461779	Standard	NM_024841		Approved	FLJ14213, PROTOR-2	uc001mwp.3	Q6MZQ0		ENST00000378867.3:c.658C>G	11.37:g.36472831C>G	ENSP00000368144:p.Pro220Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN22|E9PKY1|Q96H46|Q9H7V4	Missense_Mutation	SNP	pfam_HbrB	p.P220A	ENST00000378867.3	37	c.658	CCDS31463.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956306	0.73902	.	.	ENSG00000135362	ENST00000530639;ENST00000311599;ENST00000378867	T;T;T	0.74526	-0.23;-0.85;-0.23	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.87188	0.6115	M	0.80982	2.52	0.58432	D	0.999998	D;D	0.89917	0.999;1.0	D;D	0.83275	0.996;0.996	D	0.88950	0.3386	10	0.87932	D	0	-12.4442	18.2305	0.89934	0.0:1.0:0.0:0.0	.	92;220	Q6MZQ0-3;Q6MZQ0	.;PRR5L_HUMAN	A	220;147;220	ENSP00000435050:P220A;ENSP00000310103:P147A;ENSP00000368144:P220A	ENSP00000310103:P147A	P	+	1	0	PRR5L	36429407	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	5.761000	0.68801	2.417000	0.82017	0.313000	0.20887	CCT	PRR5L	-	NULL	ENSG00000135362		0.532	PRR5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR5L	HGNC	protein_coding	OTTHUMT00000389209.1	105	0.00	0	C	NM_024841		36472831	36472831	+1	no_errors	ENST00000378867	ensembl	human	known	69_37n	missense	67	22.99	20	SNP	1.000	G
PRRC2A	7916	genome.wustl.edu	37	6	31598541	31598541	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:31598541C>G	ENST00000376033.2	+	15	2662	c.2428C>G	c.(2428-2430)Ctg>Gtg	p.L810V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L810V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	810	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TACCTCACCTCTGCGCCAGGC	0.582																																						dbGAP											0													59.0	52.0	54.0					6																	31598541		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2428C>G	6.37:g.31598541C>G	ENSP00000365201:p.Leu810Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.L810V	ENST00000376033.2	37	c.2428	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	8.154	0.787949	0.16258	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.07800	3.16;3.16	5.08	0.252	0.15545	.	0.000000	0.42053	D	0.000764	T	0.01592	0.0051	N	0.24115	0.695	0.09310	N	1	B	0.27559	0.181	B	0.26310	0.068	T	0.42464	-0.9450	10	0.87932	D	0	-3.2892	5.1943	0.15227	0.1296:0.4951:0.0:0.3753	.	810	P48634	PRC2A_HUMAN	V	810;799;810;810;35	ENSP00000365175:L810V;ENSP00000365201:L810V	ENSP00000365175:L810V	L	+	1	2	PRRC2A	31706520	0.225000	0.23685	0.234000	0.24042	0.940000	0.58332	0.811000	0.27198	0.076000	0.16826	-0.794000	0.03295	CTG	PRRC2A	-	NULL	ENSG00000204469		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	40	0.00	0	C	NM_080686		31598541	31598541	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.012	G
PRRC2A	7916	genome.wustl.edu	37	6	31598541	31598541	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:31598541C>G	ENST00000376033.2	+	15	2662	c.2428C>G	c.(2428-2430)Ctg>Gtg	p.L810V	PRRC2A_ENST00000376007.4_Missense_Mutation_p.L810V	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	810	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						TACCTCACCTCTGCGCCAGGC	0.582																																						dbGAP											0													59.0	52.0	54.0					6																	31598541		2203	4300	6503	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2428C>G	6.37:g.31598541C>G	ENSP00000365201:p.Leu810Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.L810V	ENST00000376033.2	37	c.2428	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	C	8.154	0.787949	0.16258	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.07800	3.16;3.16	5.08	0.252	0.15545	.	0.000000	0.42053	D	0.000764	T	0.01592	0.0051	N	0.24115	0.695	0.09310	N	1	B	0.27559	0.181	B	0.26310	0.068	T	0.42464	-0.9450	10	0.87932	D	0	-3.2892	5.1943	0.15227	0.1296:0.4951:0.0:0.3753	.	810	P48634	PRC2A_HUMAN	V	810;799;810;810;35	ENSP00000365175:L810V;ENSP00000365201:L810V	ENSP00000365175:L810V	L	+	1	2	PRRC2A	31706520	0.225000	0.23685	0.234000	0.24042	0.940000	0.58332	0.811000	0.27198	0.076000	0.16826	-0.794000	0.03295	CTG	PRRC2A	-	NULL	ENSG00000204469		0.582	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	37	0.00	0	C	NM_080686		31598541	31598541	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	33	25.00	11	SNP	0.012	G
PRRC2A	7916	genome.wustl.edu	37	6	31599061	31599061	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:31599061G>A	ENST00000376033.2	+	16	2845	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D871N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	871	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAGGCAGTGATGAAGTGGC	0.622																																						dbGAP											0													58.0	57.0	57.0					6																	31599061		1511	2709	4220	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2611G>A	6.37:g.31599061G>A	ENSP00000365201:p.Asp871Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.D871N	ENST00000376033.2	37	c.2611	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	8.821	0.937599	0.18206	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01725	4.67;4.67	4.93	4.93	0.64822	.	0.224099	0.31531	N	0.007481	T	0.00998	0.0033	L	0.27053	0.805	0.46849	D	0.999227	B	0.23058	0.079	B	0.20955	0.032	T	0.58651	-0.7599	10	0.87932	D	0	-2.8957	17.0646	0.86556	0.0:0.0:1.0:0.0	.	871	P48634	PRC2A_HUMAN	N	871;860;871;871;96	ENSP00000365175:D871N;ENSP00000365201:D871N	ENSP00000365175:D871N	D	+	1	0	PRRC2A	31707040	1.000000	0.71417	0.821000	0.32701	0.234000	0.25298	3.507000	0.53371	2.566000	0.86566	0.561000	0.74099	GAT	PRRC2A	-	NULL	ENSG00000204469		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	22	0.00	0	G	NM_080686		31599061	31599061	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	0.972	A
PRRC2A	7916	genome.wustl.edu	37	6	31599061	31599061	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:31599061G>A	ENST00000376033.2	+	16	2845	c.2611G>A	c.(2611-2613)Gat>Aat	p.D871N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.D871N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	871	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAGGCAGTGATGAAGTGGC	0.622																																						dbGAP											0													58.0	57.0	57.0					6																	31599061		1511	2709	4220	-	-	-	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2611G>A	6.37:g.31599061G>A	ENSP00000365201:p.Asp871Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.D871N	ENST00000376033.2	37	c.2611	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	8.821	0.937599	0.18206	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.01725	4.67;4.67	4.93	4.93	0.64822	.	0.224099	0.31531	N	0.007481	T	0.00998	0.0033	L	0.27053	0.805	0.46849	D	0.999227	B	0.23058	0.079	B	0.20955	0.032	T	0.58651	-0.7599	10	0.87932	D	0	-2.8957	17.0646	0.86556	0.0:0.0:1.0:0.0	.	871	P48634	PRC2A_HUMAN	N	871;860;871;871;96	ENSP00000365175:D871N;ENSP00000365201:D871N	ENSP00000365175:D871N	D	+	1	0	PRRC2A	31707040	1.000000	0.71417	0.821000	0.32701	0.234000	0.25298	3.507000	0.53371	2.566000	0.86566	0.561000	0.74099	GAT	PRRC2A	-	NULL	ENSG00000204469		0.622	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	21	0.00	0	G	NM_080686		31599061	31599061	+1	no_errors	ENST00000376007	ensembl	human	known	69_37n	missense	38	15.56	7	SNP	0.972	A
PRX	57716	genome.wustl.edu	37	19	40900850	40900850	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:40900850C>T	ENST00000324001.7	-	7	3679	c.3409G>A	c.(3409-3411)Gag>Aag	p.E1137K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1137	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCATGGCCCTCAGTGACCACC	0.692																																						dbGAP											0													47.0	44.0	45.0					19																	40900850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3409G>A	19.37:g.40900850C>T	ENSP00000326018:p.Glu1137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1137K	ENST00000324001.7	37	c.3409	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802604	0.31869	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.00633	6.08	4.9	4.9	0.64082	.	0.244630	0.29066	N	0.013241	T	0.01092	0.0036	L	0.41573	1.285	0.48632	D	0.99968	P	0.50528	0.936	P	0.50405	0.64	T	0.77731	-0.2478	10	0.36615	T	0.2	-28.7738	9.0861	0.36581	0.0:0.9023:0.0:0.0977	.	1137	Q9BXM0	PRAX_HUMAN	K	1137;1072	ENSP00000326018:E1137K	ENSP00000326018:E1137K	E	-	1	0	PRX	45592690	0.202000	0.23423	0.879000	0.34478	0.394000	0.30568	0.802000	0.27069	2.558000	0.86282	0.491000	0.48974	GAG	PRX	-	NULL	ENSG00000105227		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	92	0.00	0	C	NM_020956		40900850	40900850	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.589	T
PRX	57716	genome.wustl.edu	37	19	40900850	40900850	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:40900850C>T	ENST00000324001.7	-	7	3679	c.3409G>A	c.(3409-3411)Gag>Aag	p.E1137K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1137	Glu-rich (acidic).				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCATGGCCCTCAGTGACCACC	0.692																																						dbGAP											0													47.0	44.0	45.0					19																	40900850		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3409G>A	19.37:g.40900850C>T	ENSP00000326018:p.Glu1137Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1137K	ENST00000324001.7	37	c.3409	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	C	11.99	1.802604	0.31869	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.00633	6.08	4.9	4.9	0.64082	.	0.244630	0.29066	N	0.013241	T	0.01092	0.0036	L	0.41573	1.285	0.48632	D	0.99968	P	0.50528	0.936	P	0.50405	0.64	T	0.77731	-0.2478	10	0.36615	T	0.2	-28.7738	9.0861	0.36581	0.0:0.9023:0.0:0.0977	.	1137	Q9BXM0	PRAX_HUMAN	K	1137;1072	ENSP00000326018:E1137K	ENSP00000326018:E1137K	E	-	1	0	PRX	45592690	0.202000	0.23423	0.879000	0.34478	0.394000	0.30568	0.802000	0.27069	2.558000	0.86282	0.491000	0.48974	GAG	PRX	-	NULL	ENSG00000105227		0.692	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	73	0.00	0	C	NM_020956		40900850	40900850	-1	no_errors	ENST00000324001	ensembl	human	known	69_37n	missense	41	18.00	9	SNP	0.589	T
PSMA7	5688	genome.wustl.edu	37	20	60714153	60714153	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:60714153G>C	ENST00000370873.4	-	4	575	c.449C>G	c.(448-450)tCg>tGg	p.S150W	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.S80W	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTATGTGCCCGAGGGGTCAGT	0.567																																						dbGAP											0													123.0	121.0	122.0					20																	60714153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.449C>G	20.37:g.60714153G>C	ENSP00000359910:p.Ser150Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.S150W	ENST00000370873.4	37	c.449	CCDS13489.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.6|22.6	4.307758|4.307758	0.81247|0.81247	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000442551|ENST00000370873;ENST00000370861	.|T;T	.|0.27890	.|1.64;1.64	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.113150	.|0.64402	.|D	.|0.000007	T|T	0.78253|0.78253	0.4254|0.4254	H|H	0.99959|0.99959	5.06|5.06	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89903|0.89903	0.4046|0.4046	5|10	.|0.87932	.|D	.|0	.|.	18.6822|18.6822	0.91549|0.91549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150	.|O14818	.|PSA7_HUMAN	G|W	76|150;80	.|ENSP00000359910:S150W;ENSP00000359898:S80W	.|ENSP00000359898:S80W	R|S	-|-	1|2	2|0	PSMA7|PSMA7	60147548|60147548	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.728000|0.728000	0.41692|0.41692	9.281000|9.281000	0.95811|0.95811	2.431000|2.431000	0.82371|0.82371	0.491000|0.491000	0.48974|0.48974	CGG|TCG	PSMA7	-	pfam_Proteasome_sua/b	ENSG00000101182		0.567	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA7	HGNC	protein_coding	OTTHUMT00000079975.1	105	0.00	0	G	NM_002792		60714153	60714153	-1	no_errors	ENST00000370873	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	C
PSMA7	5688	genome.wustl.edu	37	20	60714153	60714153	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:60714153G>C	ENST00000370873.4	-	4	575	c.449C>G	c.(448-450)tCg>tGg	p.S150W	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370861.1_Missense_Mutation_p.S80W	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	identical protein binding (GO:0042802)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GTATGTGCCCGAGGGGTCAGT	0.567																																						dbGAP											0													123.0	121.0	122.0					20																	60714153		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF022815	CCDS13489.1	20q13.33	2008-07-02			ENSG00000101182	ENSG00000101182		"""Proteasome (prosome, macropain) subunits"""	9536	protein-coding gene	gene with protein product	"""proteasome subunit XAPC7"", ""proteasome subunit RC6-1"""	606607				8764072	Standard	NM_002792		Approved	XAPC7, C6, HSPC, RC6-1	uc002ybx.2	O14818	OTTHUMG00000032895	ENST00000370873.4:c.449C>G	20.37:g.60714153G>C	ENSP00000359910:p.Ser150Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R515|Q5JXJ2|Q9BR53|Q9H4K5|Q9UEU8	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.S150W	ENST00000370873.4	37	c.449	CCDS13489.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	22.6|22.6	4.307758|4.307758	0.81247|0.81247	.|.	.|.	ENSG00000101182|ENSG00000101182	ENST00000442551|ENST00000370873;ENST00000370861	.|T;T	.|0.27890	.|1.64;1.64	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.113150	.|0.64402	.|D	.|0.000007	T|T	0.78253|0.78253	0.4254|0.4254	H|H	0.99959|0.99959	5.06|5.06	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.89903|0.89903	0.4046|0.4046	5|10	.|0.87932	.|D	.|0	.|.	18.6822|18.6822	0.91549|0.91549	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|150	.|O14818	.|PSA7_HUMAN	G|W	76|150;80	.|ENSP00000359910:S150W;ENSP00000359898:S80W	.|ENSP00000359898:S80W	R|S	-|-	1|2	2|0	PSMA7|PSMA7	60147548|60147548	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.728000|0.728000	0.41692|0.41692	9.281000|9.281000	0.95811|0.95811	2.431000|2.431000	0.82371|0.82371	0.491000|0.491000	0.48974|0.48974	CGG|TCG	PSMA7	-	pfam_Proteasome_sua/b	ENSG00000101182		0.567	PSMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMA7	HGNC	protein_coding	OTTHUMT00000079975.1	75	0.00	0	G	NM_002792		60714153	60714153	-1	no_errors	ENST00000370873	ensembl	human	known	69_37n	missense	46	22.03	13	SNP	1.000	C
PSPH	5723	genome.wustl.edu	37	7	56088902	56088902	+	Missense_Mutation	SNP	C	C	T	rs77329757	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:56088902C>T	ENST00000395471.3	-	4	809	c.4G>A	c.(4-6)Gtc>Atc	p.V2I	PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Missense_Mutation_p.V2I			P78330	SERB_HUMAN	phosphoserine phosphatase	2				V -> I (in Ref. 1; CAA71318). {ECO:0000305}.	cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGTGGGAGACCATCGCTGGA	0.403																																						dbGAP											0													59.0	49.0	53.0					7																	56088902		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.4G>A	7.37:g.56088902C>T	ENSP00000378854:p.Val2Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.V2I	ENST00000395471.3	37	c.4	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870338	0.33069	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596;ENST00000413218;ENST00000416592	D;D;D;T;T	0.82619	-1.63;-1.63;-1.63;-1.11;-1.11	5.5	4.62	0.57501	.	0.498508	0.22451	N	0.059892	T	0.76586	0.4008	L	0.43152	1.355	0.25991	N	0.982243	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.62821	-0.6773	10	0.26408	T	0.33	-18.3475	13.3091	0.60370	0.0:0.9237:0.0:0.0763	.	2;2	Q53EY1;P78330	.;SERB_HUMAN	I	2	ENSP00000275605:V2I;ENSP00000378854:V2I;ENSP00000398653:V2I;ENSP00000399660:V2I;ENSP00000390952:V2I	ENSP00000275605:V2I	V	-	1	0	PSPH	56056396	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.602000	0.36783	1.325000	0.45301	0.591000	0.81541	GTC	PSPH	-	tigrfam_SerB	ENSG00000146733		0.403	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	26	0.00	0	C	NM_004577		56088902	56088902	-1	no_errors	ENST00000275605	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	T
PTBP1	5725	genome.wustl.edu	37	19	806554	806554	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:806554G>A	ENST00000349038.4	+	9	1112	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.E373K|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.E366K	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	347	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAACCCAGAGGTACGTGG	0.706																																						dbGAP											0													53.0	39.0	44.0					19																	806554		2201	4300	6501	-	-	-	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1039G>A	19.37:g.806554G>A	ENSP00000014112:p.Glu347Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E373K	ENST00000349038.4	37	c.1117	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038989	0.75617	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50001	0.76;3.34;1.13	4.27	4.27	0.50696	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.059217	0.64402	D	0.000003	T	0.46502	0.1396	L	0.46819	1.47	0.80722	D	1	B;B;B	0.20368	0.029;0.044;0.024	B;B;B	0.32149	0.049;0.141;0.081	T	0.44892	-0.9298	10	0.39692	T	0.17	-34.3856	15.7112	0.77629	0.0:0.0:1.0:0.0	.	347;366;373	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	K	373;366;347	ENSP00000349428:E373K;ENSP00000408096:E366K;ENSP00000014112:E347K	ENSP00000014112:E347K	E	+	1	0	PTBP1	757554	1.000000	0.71417	0.982000	0.44146	0.791000	0.44710	9.285000	0.95894	1.928000	0.55862	0.563000	0.77884	GAG	PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000011304		0.706	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	70	0.00	0	G			806554	806554	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.999	A
PTBP1	5725	genome.wustl.edu	37	19	806554	806554	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:806554G>A	ENST00000349038.4	+	9	1112	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000356948.6_Missense_Mutation_p.E373K|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.E366K	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	347	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCAACCCAGAGGTACGTGG	0.706																																						dbGAP											0													53.0	39.0	44.0					19																	806554		2201	4300	6501	-	-	-	SO:0001583	missense	0			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1039G>A	19.37:g.806554G>A	ENSP00000014112:p.Glu347Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E373K	ENST00000349038.4	37	c.1117	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	20.7	4.038989	0.75617	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50001	0.76;3.34;1.13	4.27	4.27	0.50696	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.059217	0.64402	D	0.000003	T	0.46502	0.1396	L	0.46819	1.47	0.80722	D	1	B;B;B	0.20368	0.029;0.044;0.024	B;B;B	0.32149	0.049;0.141;0.081	T	0.44892	-0.9298	10	0.39692	T	0.17	-34.3856	15.7112	0.77629	0.0:0.0:1.0:0.0	.	347;366;373	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	K	373;366;347	ENSP00000349428:E373K;ENSP00000408096:E366K;ENSP00000014112:E347K	ENSP00000014112:E347K	E	+	1	0	PTBP1	757554	1.000000	0.71417	0.982000	0.44146	0.791000	0.44710	9.285000	0.95894	1.928000	0.55862	0.563000	0.77884	GAG	PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000011304		0.706	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	62	0.00	0	G			806554	806554	+1	no_errors	ENST00000356948	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	0.999	A
PTBP2	58155	genome.wustl.edu	37	1	97243418	97243418	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:97243418G>A	ENST00000426398.2	+	7	667	c.624G>A	c.(622-624)ttG>ttA	p.L208L	PTBP2_ENST00000370198.1_Silent_p.L208L|PTBP2_ENST00000541987.1_Silent_p.L177L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L208L|PTBP2_ENST00000394184.3_Silent_p.L219L|PTBP2_ENST00000370197.1_Silent_p.L208L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	208	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGCTGTATTGAAGATAATCA	0.269																																						dbGAP											0													62.0	69.0	67.0					1																	97243418		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.624G>A	1.37:g.97243418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L219	ENST00000426398.2	37	c.657	CCDS754.1	1																																																																																			PTBP2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000117569		0.269	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	62	0.00	0	G			97243418	97243418	+1	no_errors	ENST00000394184	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	1.000	A
PTBP2	58155	genome.wustl.edu	37	1	97243418	97243418	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:97243418G>A	ENST00000426398.2	+	7	667	c.624G>A	c.(622-624)ttG>ttA	p.L208L	PTBP2_ENST00000370198.1_Silent_p.L208L|PTBP2_ENST00000541987.1_Silent_p.L177L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L208L|PTBP2_ENST00000394184.3_Silent_p.L219L|PTBP2_ENST00000370197.1_Silent_p.L208L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	208	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTGCTGTATTGAAGATAATCA	0.269																																						dbGAP											0													62.0	69.0	67.0					1																	97243418		2200	4297	6497	-	-	-	SO:0001819	synonymous_variant	0			AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.624G>A	1.37:g.97243418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.L219	ENST00000426398.2	37	c.657	CCDS754.1	1																																																																																			PTBP2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	ENSG00000117569		0.269	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP2	HGNC	protein_coding	OTTHUMT00000029453.1	63	0.00	0	G			97243418	97243418	+1	no_errors	ENST00000394184	ensembl	human	known	69_37n	silent	35	16.67	7	SNP	1.000	A
PTCD1	26024	genome.wustl.edu	37	7	99022941	99022941	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:99022941C>G	ENST00000292478.4	-	6	1464	c.1214G>C	c.(1213-1215)aGa>aCa	p.R405T	PTCD1_ENST00000555673.1_Missense_Mutation_p.R454T|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R454T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	405					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCGGGCACTCTGGCTTCCGG	0.637																																						dbGAP											0													98.0	97.0	97.0					7																	99022941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1214G>C	7.37:g.99022941C>G	ENSP00000292478:p.Arg405Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.R454T	ENST00000292478.4	37	c.1361	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486148	0.04352	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.64260	-0.09;-0.06;-0.06	5.72	-0.612	0.11597	.	1.010710	0.07883	N	0.969861	T	0.46870	0.1415	L	0.55990	1.75	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.09377	0.004;0.003	T	0.25813	-1.0121	10	0.09843	T	0.71	-1.2554	1.5067	0.02488	0.2243:0.41:0.11:0.2558	.	454;405	G3V325;O75127	.;PTCD1_HUMAN	T	405;187;454;454	ENSP00000292478:R405T;ENSP00000450995:R454T;ENSP00000400168:R454T	ENSP00000400168:R454T	R	-	2	0	ATP5J2-PTCD1;PTCD1	98860877	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.577000	0.05847	-0.169000	0.10834	-0.258000	0.10820	AGA	PTCD1	-	NULL	ENSG00000106246		0.637	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	48	0.00	0	C	NM_015545		99022941	99022941	-1	no_errors	ENST00000555673	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.000	G
PTCD1	26024	genome.wustl.edu	37	7	99022941	99022941	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:99022941C>G	ENST00000292478.4	-	6	1464	c.1214G>C	c.(1213-1215)aGa>aCa	p.R405T	PTCD1_ENST00000555673.1_Missense_Mutation_p.R454T|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.R454T	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	405					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCGGGCACTCTGGCTTCCGG	0.637																																						dbGAP											0													98.0	97.0	97.0					7																	99022941		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1214G>C	7.37:g.99022941C>G	ENSP00000292478:p.Arg405Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.R454T	ENST00000292478.4	37	c.1361	CCDS34691.1	7	.	.	.	.	.	.	.	.	.	.	C	1.764	-0.486148	0.04352	.	.	ENSG00000106246;ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000438524;ENST00000555673;ENST00000413834	T;T;T	0.64260	-0.09;-0.06;-0.06	5.72	-0.612	0.11597	.	1.010710	0.07883	N	0.969861	T	0.46870	0.1415	L	0.55990	1.75	0.09310	N	1	B;B	0.13594	0.005;0.008	B;B	0.09377	0.004;0.003	T	0.25813	-1.0121	10	0.09843	T	0.71	-1.2554	1.5067	0.02488	0.2243:0.41:0.11:0.2558	.	454;405	G3V325;O75127	.;PTCD1_HUMAN	T	405;187;454;454	ENSP00000292478:R405T;ENSP00000450995:R454T;ENSP00000400168:R454T	ENSP00000400168:R454T	R	-	2	0	ATP5J2-PTCD1;PTCD1	98860877	0.000000	0.05858	0.001000	0.08648	0.065000	0.16274	-0.577000	0.05847	-0.169000	0.10834	-0.258000	0.10820	AGA	PTCD1	-	NULL	ENSG00000106246		0.637	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	44	0.00	0	C	NM_015545		99022941	99022941	-1	no_errors	ENST00000555673	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	0.000	G
PTGER4	5734	genome.wustl.edu	37	5	40692106	40692106	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:40692106G>T	ENST00000302472.3	+	3	2117	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	365					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCACTGCTCAGACAGTCAAAG	0.557																																						dbGAP											0													48.0	48.0	48.0					5																	40692106		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1093G>T	5.37:g.40692106G>T	ENSP00000302846:p.Asp365Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.D365Y	ENST00000302472.3	37	c.1093	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411096	0.42817	.	.	ENSG00000171522	ENST00000302472	T	0.38240	1.15	5.03	5.03	0.67393	.	0.369681	0.29900	N	0.010920	T	0.28300	0.0699	L	0.34521	1.04	0.43819	D	0.996383	P	0.39624	0.681	B	0.30179	0.112	T	0.17592	-1.0364	10	0.59425	D	0.04	-11.1011	18.5531	0.91072	0.0:0.0:1.0:0.0	.	365	P35408	PE2R4_HUMAN	Y	365	ENSP00000302846:D365Y	ENSP00000302846:D365Y	D	+	1	0	PTGER4	40727863	1.000000	0.71417	0.167000	0.22817	0.701000	0.40568	6.069000	0.71209	2.613000	0.88420	0.467000	0.42956	GAC	PTGER4	-	prints_Prost_EP4_rcpt	ENSG00000171522		0.557	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	19	0.00	0	G	NM_000958		40692106	40692106	+1	no_errors	ENST00000302472	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.913	T
PTGER4	5734	genome.wustl.edu	37	5	40692106	40692106	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:40692106G>T	ENST00000302472.3	+	3	2117	c.1093G>T	c.(1093-1095)Gac>Tac	p.D365Y		NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	365					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|bone development (GO:0060348)|cellular response to mechanical stimulus (GO:0071260)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|JNK cascade (GO:0007254)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of eosinophil extravasation (GO:2000420)|negative regulation of inflammatory response (GO:0050728)|negative regulation of integrin activation (GO:0033624)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of inflammatory response (GO:0050729)|regulation of ossification (GO:0030278)|regulation of stress fiber assembly (GO:0051492)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|T-helper cell differentiation (GO:0042093)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin E receptor activity (GO:0004957)			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23					Dinoprostone(DB00917)|Misoprostol(DB00929)	GCACTGCTCAGACAGTCAAAG	0.557																																						dbGAP											0													48.0	48.0	48.0					5																	40692106		2203	4300	6503	-	-	-	SO:0001583	missense	0			L28175	CCDS3930.1	5p13.1	2012-08-08			ENSG00000171522	ENSG00000171522		"""GPCR / Class A : Prostanoid receptors"""	9596	protein-coding gene	gene with protein product		601586				7759114, 8661119	Standard	NM_000958		Approved	EP4	uc003jlz.3	P35408	OTTHUMG00000094769	ENST00000302472.3:c.1093G>T	5.37:g.40692106G>T	ENSP00000302846:p.Asp365Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJ87	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt	p.D365Y	ENST00000302472.3	37	c.1093	CCDS3930.1	5	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411096	0.42817	.	.	ENSG00000171522	ENST00000302472	T	0.38240	1.15	5.03	5.03	0.67393	.	0.369681	0.29900	N	0.010920	T	0.28300	0.0699	L	0.34521	1.04	0.43819	D	0.996383	P	0.39624	0.681	B	0.30179	0.112	T	0.17592	-1.0364	10	0.59425	D	0.04	-11.1011	18.5531	0.91072	0.0:0.0:1.0:0.0	.	365	P35408	PE2R4_HUMAN	Y	365	ENSP00000302846:D365Y	ENSP00000302846:D365Y	D	+	1	0	PTGER4	40727863	1.000000	0.71417	0.167000	0.22817	0.701000	0.40568	6.069000	0.71209	2.613000	0.88420	0.467000	0.42956	GAC	PTGER4	-	prints_Prost_EP4_rcpt	ENSG00000171522		0.557	PTGER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGER4	HGNC	protein_coding	OTTHUMT00000211578.2	29	0.00	0	G	NM_000958		40692106	40692106	+1	no_errors	ENST00000302472	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	0.913	T
PTGES2	80142	genome.wustl.edu	37	9	130887650	130887650	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:130887650C>T	ENST00000338961.6	-	2	1094	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	AL590708.2_ENST00000443493.1_5'Flank|PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	117	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GAGGAAGGCTCGGACCTTGCT	0.602																																						dbGAP											0													89.0	78.0	82.0					9																	130887650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.350G>A	9.37:g.130887650C>T	ENSP00000345341:p.Arg117Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.R117Q	ENST00000338961.6	37	c.350	CCDS6891.1	9	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027285	0.93518	.	.	ENSG00000148334	ENST00000338961	T	0.36878	1.23	4.88	3.98	0.46160	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76380	-0.2980	10	0.72032	D	0.01	-1.184	12.1394	0.53989	0.0:0.9164:0.0:0.0836	.	117	Q9H7Z7	PGES2_HUMAN	Q	117	ENSP00000345341:R117Q	ENSP00000345341:R117Q	R	-	2	0	PTGES2	129927471	1.000000	0.71417	0.911000	0.35937	0.791000	0.44710	7.487000	0.81328	1.035000	0.39972	0.561000	0.74099	CGA	PTGES2	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000148334		0.602	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1	103	0.96	1	C			130887650	130887650	-1	no_errors	ENST00000338961	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	0.998	T
PTGES2	80142	genome.wustl.edu	37	9	130887650	130887650	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:130887650C>T	ENST00000338961.6	-	2	1094	c.350G>A	c.(349-351)cGa>cAa	p.R117Q	AL590708.2_ENST00000443493.1_5'Flank|PTGES2_ENST00000277462.5_5'UTR|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	117	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GAGGAAGGCTCGGACCTTGCT	0.602																																						dbGAP											0													89.0	78.0	82.0					9																	130887650		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.350G>A	9.37:g.130887650C>T	ENSP00000345341:p.Arg117Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.R117Q	ENST00000338961.6	37	c.350	CCDS6891.1	9	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027285	0.93518	.	.	ENSG00000148334	ENST00000338961	T	0.36878	1.23	4.88	3.98	0.46160	Glutaredoxin (2);Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.68366	0.2993	H	0.94222	3.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76380	-0.2980	10	0.72032	D	0.01	-1.184	12.1394	0.53989	0.0:0.9164:0.0:0.0836	.	117	Q9H7Z7	PGES2_HUMAN	Q	117	ENSP00000345341:R117Q	ENSP00000345341:R117Q	R	-	2	0	PTGES2	129927471	1.000000	0.71417	0.911000	0.35937	0.791000	0.44710	7.487000	0.81328	1.035000	0.39972	0.561000	0.74099	CGA	PTGES2	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold	ENSG00000148334		0.602	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1	64	0.00	0	C			130887650	130887650	-1	no_errors	ENST00000338961	ensembl	human	known	69_37n	missense	43	24.56	14	SNP	0.998	T
PVRL2	5819	genome.wustl.edu	37	19	45375215	45375215	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:45375215C>T	ENST00000252483.5	+	3	584	c.584C>T	c.(583-585)tCc>tTc	p.S195F	PVRL2_ENST00000252485.4_Missense_Mutation_p.S195F	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	195	Ig-like C2-type 1.				acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GCCCGGATCTCCTGGCTCTCA	0.627																																						dbGAP											0													42.0	40.0	40.0					19																	45375215		2203	4300	6503	-	-	-	SO:0001583	missense	0			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.584C>T	19.37:g.45375215C>T	ENSP00000252483:p.Ser195Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.S195F	ENST00000252483.5	37	c.584	CCDS42576.1	19	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597503	0.46318	.	.	ENSG00000130202	ENST00000252483;ENST00000252485	T;T	0.78816	-1.21;-1.21	4.42	3.36	0.38483	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.119675	0.38326	N	0.001732	D	0.86875	0.6038	M	0.84846	2.72	0.30225	N	0.796445	D;D	0.67145	0.979;0.996	D;D	0.68621	0.951;0.959	D	0.84130	0.0411	10	0.87932	D	0	.	10.0505	0.42212	0.0:0.7953:0.2047:0.0	.	195;195	Q92692;Q92692-2	PVRL2_HUMAN;.	F	195	ENSP00000252483:S195F;ENSP00000252485:S195F	ENSP00000252483:S195F	S	+	2	0	PVRL2	50067055	1.000000	0.71417	0.994000	0.49952	0.419000	0.31324	1.695000	0.37763	1.044000	0.40200	0.561000	0.74099	TCC	PVRL2	-	pfam_CD80_C2-set,pfscan_Ig-like	ENSG00000130202		0.627	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVRL2	HGNC	protein_coding	OTTHUMT00000453231.1	84	0.00	0	C	NM_002856		45375215	45375215	+1	no_errors	ENST00000252483	ensembl	human	known	69_37n	missense	46	11.32	6	SNP	1.000	T
RASAL2	9462	genome.wustl.edu	37	1	178427263	178427263	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:178427263G>A	ENST00000462775.1	+	12	2538	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	RASAL2_ENST00000367649.3_Missense_Mutation_p.E946K|RASAL2_ENST00000448150.3_Missense_Mutation_p.E935K	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	805					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTCCAGTTTGGAGAACCTAAG	0.488																																						dbGAP											0													82.0	84.0	83.0					1																	178427263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2413G>A	1.37:g.178427263G>A	ENSP00000420558:p.Glu805Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E946K	ENST00000462775.1	37	c.2836	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.643107|4.643107	0.87859|0.87859	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.13089|.	2.62;2.62;2.62|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.304651|.	0.36555|.	N|.	0.002537|.	T|T	0.77824|0.77824	0.4188|0.4188	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.994;0.996|.	D;D;D|.	0.80764|.	0.994;0.973;0.987|.	T|T	0.77955|0.77955	-0.2393|-0.2393	10|5	0.72032|.	D|.	0.01|.	.|.	19.0028|19.0028	0.92841|0.92841	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	935;805;946|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	K|E	935;946;805|355	ENSP00000407768:E935K;ENSP00000356621:E946K;ENSP00000420558:E805K|.	ENSP00000356621:E946K|.	E|G	+|+	1|2	0|0	RASAL2|RASAL2	176693886|176693886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.050000|9.050000	0.93843|0.93843	2.480000|2.480000	0.83734|0.83734	0.655000|0.655000	0.94253|0.94253	GAG|GGA	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.488	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	31	0.00	0	G	NM_170692		178427263	178427263	+1	no_errors	ENST00000367649	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	A
RASAL2	9462	genome.wustl.edu	37	1	178427263	178427263	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:178427263G>A	ENST00000462775.1	+	12	2538	c.2413G>A	c.(2413-2415)Gag>Aag	p.E805K	RASAL2_ENST00000367649.3_Missense_Mutation_p.E946K|RASAL2_ENST00000448150.3_Missense_Mutation_p.E935K	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	805					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTCCAGTTTGGAGAACCTAAG	0.488																																						dbGAP											0													82.0	84.0	83.0					1																	178427263		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2413G>A	1.37:g.178427263G>A	ENSP00000420558:p.Glu805Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.E946K	ENST00000462775.1	37	c.2836	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.643107|4.643107	0.87859|0.87859	.|.	.|.	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.13089|.	2.62;2.62;2.62|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.304651|.	0.36555|.	N|.	0.002537|.	T|T	0.77824|0.77824	0.4188|0.4188	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.994;0.996|.	D;D;D|.	0.80764|.	0.994;0.973;0.987|.	T|T	0.77955|0.77955	-0.2393|-0.2393	10|5	0.72032|.	D|.	0.01|.	.|.	19.0028|19.0028	0.92841|0.92841	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	935;805;946|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	K|E	935;946;805|355	ENSP00000407768:E935K;ENSP00000356621:E946K;ENSP00000420558:E805K|.	ENSP00000356621:E946K|.	E|G	+|+	1|2	0|0	RASAL2|RASAL2	176693886|176693886	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.050000|9.050000	0.93843|0.93843	2.480000|2.480000	0.83734|0.83734	0.655000|0.655000	0.94253|0.94253	GAG|GGA	RASAL2	-	pfam_DUF3498	ENSG00000075391		0.488	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	HGNC	protein_coding	OTTHUMT00000084758.3	32	0.00	0	G	NM_170692		178427263	178427263	+1	no_errors	ENST00000367649	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	A
RBM27	54439	genome.wustl.edu	37	5	145650535	145650535	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:145650535G>C	ENST00000265271.5	+	18	2876	c.2710G>C	c.(2710-2712)Gat>Cat	p.D904H	RBM27_ENST00000506502.1_Missense_Mutation_p.D849H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	904					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTTATTAGATACTGAACT	0.378																																						dbGAP											0													76.0	66.0	69.0					5																	145650535		1568	3582	5150	-	-	-	SO:0001583	missense	0			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2710G>C	5.37:g.145650535G>C	ENSP00000265271:p.Asp904His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D904H	ENST00000265271.5	37	c.2710	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451171	0.84209	.	.	ENSG00000091009	ENST00000265271	T	0.68479	-0.33	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82637	0.5080	M	0.79258	2.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85000	0.0899	10	0.87932	D	0	-16.171	18.7883	0.91964	0.0:0.0:1.0:0.0	.	904	Q9P2N5	RBM27_HUMAN	H	904	ENSP00000265271:D904H	ENSP00000265271:D904H	D	+	1	0	RBM27	145630728	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.997000	0.93544	2.521000	0.84997	0.655000	0.94253	GAT	RBM27	-	NULL	ENSG00000091009		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	24	0.00	0	G	XM_291128		145650535	145650535	+1	no_errors	ENST00000265271	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	1.000	C
RESP18	389075	genome.wustl.edu	37	2	220193888	220193888	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:220193888G>C	ENST00000333527.5	-	5	551	c.552C>G	c.(550-552)gtC>gtG	p.V184V	RESP18_ENST00000392083.1_Silent_p.V74V	NM_001007089.3	NP_001007090.3	Q5W5W9	RES18_HUMAN	regulated endocrine-specific protein 18	156					in utero embryonic development (GO:0001701)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|rough endoplasmic reticulum lumen (GO:0048237)|secretory granule (GO:0030141)				endometrium(1)|prostate(1)	2						CCCTCACCTTGACAGGGTTGG	0.542																																						dbGAP											0													63.0	59.0	61.0					2																	220193888		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF437883	CCDS33382.2	2q35	2012-12-07	2012-12-07		ENSG00000182698	ENSG00000182698			33762	protein-coding gene	gene with protein product		612721	"""regulated endocrine-specific protein 18 homolog (rat)"""			17951542, 7988462	Standard	NM_001007089		Approved		uc002vlc.4	Q5W5W9	OTTHUMG00000150223	ENST00000333527.5:c.552C>G	2.37:g.220193888G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ49|Q38I23|Q5W5X0	Silent	SNP	NULL	p.V184	ENST00000333527.5	37	c.552	CCDS33382.2	2																																																																																			RESP18	-	NULL	ENSG00000182698		0.542	RESP18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	RESP18	HGNC	protein_coding	OTTHUMT00000316885.1	34	0.00	0	G	NM_001007089		220193888	220193888	-1	no_errors	ENST00000333527	ensembl	human	putative	69_37n	silent	23	23.33	7	SNP	0.066	C
RESP18	389075	genome.wustl.edu	37	2	220193888	220193888	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:220193888G>C	ENST00000333527.5	-	5	551	c.552C>G	c.(550-552)gtC>gtG	p.V184V	RESP18_ENST00000392083.1_Silent_p.V74V	NM_001007089.3	NP_001007090.3	Q5W5W9	RES18_HUMAN	regulated endocrine-specific protein 18	156					in utero embryonic development (GO:0001701)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|rough endoplasmic reticulum lumen (GO:0048237)|secretory granule (GO:0030141)				endometrium(1)|prostate(1)	2						CCCTCACCTTGACAGGGTTGG	0.542																																						dbGAP											0													63.0	59.0	61.0					2																	220193888		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF437883	CCDS33382.2	2q35	2012-12-07	2012-12-07		ENSG00000182698	ENSG00000182698			33762	protein-coding gene	gene with protein product		612721	"""regulated endocrine-specific protein 18 homolog (rat)"""			17951542, 7988462	Standard	NM_001007089		Approved		uc002vlc.4	Q5W5W9	OTTHUMG00000150223	ENST00000333527.5:c.552C>G	2.37:g.220193888G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ49|Q38I23|Q5W5X0	Silent	SNP	NULL	p.V184	ENST00000333527.5	37	c.552	CCDS33382.2	2																																																																																			RESP18	-	NULL	ENSG00000182698		0.542	RESP18-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	RESP18	HGNC	protein_coding	OTTHUMT00000316885.1	26	0.00	0	G	NM_001007089		220193888	220193888	-1	no_errors	ENST00000333527	ensembl	human	putative	69_37n	silent	23	23.33	7	SNP	0.066	C
RGS7BP	401190	genome.wustl.edu	37	5	63803631	63803631	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:63803631G>A	ENST00000334025.2	+	2	585	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	87					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACTCCGGGCGGAAATGCACAA	0.517																																						dbGAP											0													66.0	66.0	66.0					5																	63803631		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.259G>A	5.37:g.63803631G>A	ENSP00000334851:p.Glu87Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3X1	Missense_Mutation	SNP	NULL	p.E87K	ENST00000334025.2	37	c.259	CCDS34170.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.776758	0.96929	.	.	ENSG00000186479	ENST00000334025	T	0.38722	1.12	5.6	5.6	0.85130	.	0.090463	0.85682	D	0.000000	T	0.37812	0.1017	L	0.27053	0.805	0.58432	D	0.999999	P	0.48162	0.906	P	0.45971	0.499	T	0.05007	-1.0912	10	0.15952	T	0.53	-3.7208	19.6182	0.95643	0.0:0.0:1.0:0.0	.	87	Q6MZT1	R7BP_HUMAN	K	87	ENSP00000334851:E87K	ENSP00000334851:E87K	E	+	1	0	RGS7BP	63839387	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	5.247000	0.65416	2.626000	0.88956	0.650000	0.86243	GAA	RGS7BP	-	NULL	ENSG00000186479		0.517	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	21	0.00	0	G	NM_001029875		63803631	63803631	+1	no_errors	ENST00000334025	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	A
RGS7BP	401190	genome.wustl.edu	37	5	63803631	63803631	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:63803631G>A	ENST00000334025.2	+	2	585	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	RGS7BP_ENST00000508162.1_Intron	NM_001029875.1|NM_001271890.1|NM_001271891.1	NP_001025046.1|NP_001258819.1|NP_001258820.1	Q6MZT1	R7BP_HUMAN	regulator of G-protein signaling 7 binding protein	87					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1)	11		Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186)		Lung(70;0.147)		ACTCCGGGCGGAAATGCACAA	0.517																																						dbGAP											0													66.0	66.0	66.0					5																	63803631		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640900	CCDS34170.1	5q12.3	2008-02-05	2007-08-14		ENSG00000186479	ENSG00000186479			23271	protein-coding gene	gene with protein product		610890	"""regulator of G-protein signalling 7 binding protein"""			15632198	Standard	NM_001271890		Approved	R7BP	uc003jtj.4	Q6MZT1	OTTHUMG00000162293	ENST00000334025.2:c.259G>A	5.37:g.63803631G>A	ENSP00000334851:p.Glu87Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3X1	Missense_Mutation	SNP	NULL	p.E87K	ENST00000334025.2	37	c.259	CCDS34170.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.776758	0.96929	.	.	ENSG00000186479	ENST00000334025	T	0.38722	1.12	5.6	5.6	0.85130	.	0.090463	0.85682	D	0.000000	T	0.37812	0.1017	L	0.27053	0.805	0.58432	D	0.999999	P	0.48162	0.906	P	0.45971	0.499	T	0.05007	-1.0912	10	0.15952	T	0.53	-3.7208	19.6182	0.95643	0.0:0.0:1.0:0.0	.	87	Q6MZT1	R7BP_HUMAN	K	87	ENSP00000334851:E87K	ENSP00000334851:E87K	E	+	1	0	RGS7BP	63839387	1.000000	0.71417	0.918000	0.36340	0.992000	0.81027	5.247000	0.65416	2.626000	0.88956	0.650000	0.86243	GAA	RGS7BP	-	NULL	ENSG00000186479		0.517	RGS7BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS7BP	HGNC	protein_coding	OTTHUMT00000368464.1	30	0.00	0	G	NM_001029875		63803631	63803631	+1	no_errors	ENST00000334025	ensembl	human	known	69_37n	missense	19	20.83	5	SNP	1.000	A
RHBDD1	84236	genome.wustl.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:227729702G>C	ENST00000341329.3	+	2	535	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R98T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	98					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											188.0	178.0	182.0					2																	227729702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.293G>C	2.37:g.227729702G>C	ENSP00000344779:p.Arg98Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.R98T	ENST00000341329.3	37	c.293	CCDS2464.1	2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925624	0.73213	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.110324	0.64402	D	0.000002	T	0.30103	0.0754	M	0.73319	2.225	0.40383	D	0.979467	D;D	0.69078	0.997;0.996	D;D	0.66602	0.945;0.928	T	0.03673	-1.1014	10	0.16896	T	0.51	-20.9831	10.5305	0.44973	0.1463:0.0:0.8537:0.0	.	98;98	C9K011;Q8TEB9	.;RHBD1_HUMAN	T	98	ENSP00000400765:R98T;ENSP00000344779:R98T;ENSP00000375914:R98T;ENSP00000399694:R98T;ENSP00000388847:R98T	ENSP00000344779:R98T	R	+	2	0	RHBDD1	227437946	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.373000	0.59537	2.873000	0.98535	0.563000	0.77884	AGA	RHBDD1	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000144468		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD1	HGNC	protein_coding	OTTHUMT00000256885.2	51	0.00	0	G			227729702	227729702	+1	no_errors	ENST00000341329	ensembl	human	known	69_37n	missense	45	30.30	20	SNP	1.000	C
RHBDD1	84236	genome.wustl.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:227729702G>C	ENST00000341329.3	+	2	535	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R98T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	98					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											188.0	178.0	182.0					2																	227729702		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.293G>C	2.37:g.227729702G>C	ENSP00000344779:p.Arg98Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	pfam_Peptidase_S54_rhomboid_dom	p.R98T	ENST00000341329.3	37	c.293	CCDS2464.1	2	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925624	0.73213	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.110324	0.64402	D	0.000002	T	0.30103	0.0754	M	0.73319	2.225	0.40383	D	0.979467	D;D	0.69078	0.997;0.996	D;D	0.66602	0.945;0.928	T	0.03673	-1.1014	10	0.16896	T	0.51	-20.9831	10.5305	0.44973	0.1463:0.0:0.8537:0.0	.	98;98	C9K011;Q8TEB9	.;RHBD1_HUMAN	T	98	ENSP00000400765:R98T;ENSP00000344779:R98T;ENSP00000375914:R98T;ENSP00000399694:R98T;ENSP00000388847:R98T	ENSP00000344779:R98T	R	+	2	0	RHBDD1	227437946	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.373000	0.59537	2.873000	0.98535	0.563000	0.77884	AGA	RHBDD1	-	pfam_Peptidase_S54_rhomboid_dom	ENSG00000144468		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDD1	HGNC	protein_coding	OTTHUMT00000256885.2	78	0.00	0	G			227729702	227729702	+1	no_errors	ENST00000341329	ensembl	human	known	69_37n	missense	45	30.30	20	SNP	1.000	C
RHCG	51458	genome.wustl.edu	37	15	90026415	90026415	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:90026415G>A	ENST00000268122.4	-	3	473	c.405C>T	c.(403-405)gtC>gtT	p.V135V	RHCG_ENST00000544600.1_Silent_p.V135V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	135					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGGCCACGCAGACAGAGGCCA	0.552																																						dbGAP											0													49.0	42.0	44.0					15																	90026415		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.405C>T	15.37:g.90026415G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4D4|Q6X3Y4	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.V135	ENST00000268122.4	37	c.405	CCDS10351.1	15																																																																																			RHCG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	ENSG00000140519		0.552	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	90	0.00	0	G	NM_016321		90026415	90026415	-1	no_errors	ENST00000268122	ensembl	human	known	69_37n	silent	30	22.50	9	SNP	1.000	A
RHCG	51458	genome.wustl.edu	37	15	90026415	90026415	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:90026415G>A	ENST00000268122.4	-	3	473	c.405C>T	c.(403-405)gtC>gtT	p.V135V	RHCG_ENST00000544600.1_Silent_p.V135V	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	135					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AGGCCACGCAGACAGAGGCCA	0.552																																						dbGAP											0													49.0	42.0	44.0					15																	90026415		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.405C>T	15.37:g.90026415G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4D4|Q6X3Y4	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.V135	ENST00000268122.4	37	c.405	CCDS10351.1	15																																																																																			RHCG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	ENSG00000140519		0.552	RHCG-001	KNOWN	basic|CCDS	protein_coding	RHCG	HGNC	protein_coding	OTTHUMT00000312855.2	49	0.00	0	G	NM_016321		90026415	90026415	-1	no_errors	ENST00000268122	ensembl	human	known	69_37n	silent	30	22.50	9	SNP	1.000	A
RIMBP2	23504	genome.wustl.edu	37	12	130884256	130884256	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:130884256G>C	ENST00000261655.4	-	18	3263	c.3100C>G	c.(3100-3102)Caa>Gaa	p.Q1034E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1034					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q1034E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTATCTTGAGAGTAGTGG	0.448																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											147.0	128.0	134.0					12																	130884256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3100C>G	12.37:g.130884256G>C	ENSP00000261655:p.Gln1034Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.Q1034E	ENST00000261655.4	37	c.3100	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702022	0.48307	.	.	ENSG00000060709	ENST00000261655	T	0.20069	2.1	4.89	4.89	0.63831	.	0.218423	0.40222	N	0.001150	T	0.15349	0.0370	L	0.29908	0.895	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.06110	-1.0845	10	0.02654	T	1	-3.1439	18.1007	0.89505	0.0:0.0:1.0:0.0	.	1034	O15034	RIMB2_HUMAN	E	1034	ENSP00000261655:Q1034E	ENSP00000261655:Q1034E	Q	-	1	0	RIMBP2	129450209	1.000000	0.71417	0.015000	0.15790	0.573000	0.36030	9.226000	0.95229	2.279000	0.76181	0.478000	0.44815	CAA	RIMBP2	-	NULL	ENSG00000060709		0.448	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	69	0.00	0	G	NM_015347		130884256	130884256	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	C
RIMBP2	23504	genome.wustl.edu	37	12	130884256	130884256	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:130884256G>C	ENST00000261655.4	-	18	3263	c.3100C>G	c.(3100-3102)Caa>Gaa	p.Q1034E		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	1034					negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.Q1034E(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCGTATCTTGAGAGTAGTGG	0.448																																						dbGAP											1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											147.0	128.0	134.0					12																	130884256		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.3100C>G	12.37:g.130884256G>C	ENSP00000261655:p.Gln1034Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96ID2	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain	p.Q1034E	ENST00000261655.4	37	c.3100	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702022	0.48307	.	.	ENSG00000060709	ENST00000261655	T	0.20069	2.1	4.89	4.89	0.63831	.	0.218423	0.40222	N	0.001150	T	0.15349	0.0370	L	0.29908	0.895	0.80722	D	1	B	0.17465	0.022	B	0.14023	0.01	T	0.06110	-1.0845	10	0.02654	T	1	-3.1439	18.1007	0.89505	0.0:0.0:1.0:0.0	.	1034	O15034	RIMB2_HUMAN	E	1034	ENSP00000261655:Q1034E	ENSP00000261655:Q1034E	Q	-	1	0	RIMBP2	129450209	1.000000	0.71417	0.015000	0.15790	0.573000	0.36030	9.226000	0.95229	2.279000	0.76181	0.478000	0.44815	CAA	RIMBP2	-	NULL	ENSG00000060709		0.448	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	HGNC	protein_coding	OTTHUMT00000399520.1	58	0.00	0	G	NM_015347		130884256	130884256	-1	no_errors	ENST00000261655	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	72892561	72892561	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:72892561G>C	ENST00000521978.1	+	6	1387	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	RIMS1_ENST00000522291.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.E463Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.E463Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.E463Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.E463Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	463					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAAGCCCCGGAGCTCAAAGC	0.692																																						dbGAP											0													5.0	7.0	7.0					6																	72892561		1853	3984	5837	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1387G>C	6.37:g.72892561G>C	ENSP00000428417:p.Glu463Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.E463Q	ENST00000521978.1	37	c.1387	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.844212|2.844212	0.51164|0.51164	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978|ENST00000517433	T;T;T;T;T;T;T;T|.	0.14391|.	2.51;2.67;2.59;2.67;2.67;2.66;2.67;2.59|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	0.398778|.	0.20111|.	U|.	0.099013|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;P|.	0.39391|.	0.201;0.261;0.671|.	B;B;B|.	0.32211|.	0.039;0.051;0.142|.	T|T	0.50964|0.50964	-0.8765|-0.8765	10|5	0.72032|.	D|.	0.01|.	0.8751|0.8751	15.9178|15.9178	0.79535|0.79535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;463|.	E9PHR1;C9JNW6;Q86UR5|.	.;.;RIMS1_HUMAN|.	Q|A	463|36	ENSP00000430101:E463Q;ENSP00000275037:E463Q;ENSP00000264839:E463Q;ENSP00000429959:E463Q;ENSP00000430408:E463Q;ENSP00000430502:E463Q;ENSP00000430932:E463Q;ENSP00000428417:E463Q|.	ENSP00000264839:E463Q|.	E|G	+|+	1|2	0|0	RIMS1|RIMS1	72949282|72949282	1.000000|1.000000	0.71417|0.71417	0.024000|0.024000	0.17045|0.17045	0.715000|0.715000	0.41141|0.41141	8.678000|8.678000	0.91211|0.91211	1.736000|1.736000	0.51660|0.51660	0.455000|0.455000	0.32223|0.32223	GAG|GGA	RIMS1	-	NULL	ENSG00000079841		0.692	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	28	0.00	0	G			72892561	72892561	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.962	C
RIMS1	22999	genome.wustl.edu	37	6	72892561	72892561	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:72892561G>C	ENST00000521978.1	+	6	1387	c.1387G>C	c.(1387-1389)Gag>Cag	p.E463Q	RIMS1_ENST00000522291.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.E463Q|RIMS1_ENST00000264839.7_Missense_Mutation_p.E463Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.E463Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.E463Q|RIMS1_ENST00000518273.1_Missense_Mutation_p.E463Q	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	463					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGAAGCCCCGGAGCTCAAAGC	0.692																																						dbGAP											0													5.0	7.0	7.0					6																	72892561		1853	3984	5837	-	-	-	SO:0001583	missense	0			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1387G>C	6.37:g.72892561G>C	ENSP00000428417:p.Glu463Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.E463Q	ENST00000521978.1	37	c.1387	CCDS47449.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.47|15.47	2.844212|2.844212	0.51164|0.51164	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978|ENST00000517433	T;T;T;T;T;T;T;T|.	0.14391|.	2.51;2.67;2.59;2.67;2.67;2.66;2.67;2.59|.	3.92|3.92	3.92|3.92	0.45320|0.45320	.|.	0.398778|.	0.20111|.	U|.	0.099013|.	T|T	0.50667|0.50667	0.1629|0.1629	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;P|.	0.39391|.	0.201;0.261;0.671|.	B;B;B|.	0.32211|.	0.039;0.051;0.142|.	T|T	0.50964|0.50964	-0.8765|-0.8765	10|5	0.72032|.	D|.	0.01|.	0.8751|0.8751	15.9178|15.9178	0.79535|0.79535	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	463;463;463|.	E9PHR1;C9JNW6;Q86UR5|.	.;.;RIMS1_HUMAN|.	Q|A	463|36	ENSP00000430101:E463Q;ENSP00000275037:E463Q;ENSP00000264839:E463Q;ENSP00000429959:E463Q;ENSP00000430408:E463Q;ENSP00000430502:E463Q;ENSP00000430932:E463Q;ENSP00000428417:E463Q|.	ENSP00000264839:E463Q|.	E|G	+|+	1|2	0|0	RIMS1|RIMS1	72949282|72949282	1.000000|1.000000	0.71417|0.71417	0.024000|0.024000	0.17045|0.17045	0.715000|0.715000	0.41141|0.41141	8.678000|8.678000	0.91211|0.91211	1.736000|1.736000	0.51660|0.51660	0.455000|0.455000	0.32223|0.32223	GAG|GGA	RIMS1	-	NULL	ENSG00000079841		0.692	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	20	0.00	0	G			72892561	72892561	+1	no_errors	ENST00000521978	ensembl	human	known	69_37n	missense	15	25.00	5	SNP	0.962	C
RLF	6018	genome.wustl.edu	37	1	40704442	40704442	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:40704442C>T	ENST00000372771.4	+	8	4095	c.4068C>T	c.(4066-4068)gtC>gtT	p.V1356V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1356					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTGTCAAATGTAAAA	0.353																																						dbGAP											0													74.0	77.0	76.0					1																	40704442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4068C>T	1.37:g.40704442C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1356	ENST00000372771.4	37	c.4068	CCDS448.1	1																																																																																			RLF	-	NULL	ENSG00000117000		0.353	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	25	0.00	0	C	NM_012421		40704442	40704442	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	T
RLF	6018	genome.wustl.edu	37	1	40704442	40704442	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:40704442C>T	ENST00000372771.4	+	8	4095	c.4068C>T	c.(4066-4068)gtC>gtT	p.V1356V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1356					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GGGAACTTGTCAAATGTAAAA	0.353																																						dbGAP											0													74.0	77.0	76.0					1																	40704442		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.4068C>T	1.37:g.40704442C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CQ1|Q9NU60	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V1356	ENST00000372771.4	37	c.4068	CCDS448.1	1																																																																																			RLF	-	NULL	ENSG00000117000		0.353	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	34	0.00	0	C	NM_012421		40704442	40704442	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	1.000	T
ROBO3	64221	genome.wustl.edu	37	11	124748572	124748572	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:124748572G>T	ENST00000397801.1	+	23	3605	c.3413G>T	c.(3412-3414)cGa>cTa	p.R1138L	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1116L|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1138					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCCCATCCCGAAGGGAAACC	0.632																																						dbGAP											0													58.0	67.0	64.0					11																	124748572		2016	4170	6186	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3413G>T	11.37:g.124748572G>T	ENSP00000380903:p.Arg1138Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1138L	ENST00000397801.1	37	c.3413	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	7.372	0.627108	0.14257	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.69561	-0.41;-0.41	4.59	-5.3	0.02738	.	2.264570	0.02793	N	0.122263	T	0.55226	0.1907	L	0.57536	1.79	0.27951	N	0.937158	B	0.28350	0.208	B	0.20384	0.029	T	0.41680	-0.9495	10	0.72032	D	0.01	.	1.9325	0.03330	0.3091:0.2071:0.3777:0.1061	.	1138	Q96MS0	ROBO3_HUMAN	L	1138;1116	ENSP00000380903:R1138L;ENSP00000441797:R1116L	ENSP00000380903:R1138L	R	+	2	0	ROBO3	124253782	0.722000	0.28017	0.088000	0.20740	0.091000	0.18340	0.461000	0.21940	-0.972000	0.03559	-0.233000	0.12211	CGA	ROBO3	-	NULL	ENSG00000154134		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	39	0.00	0	G	XM_370663		124748572	124748572	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.006	T
ROBO3	64221	genome.wustl.edu	37	11	124748572	124748572	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:124748572G>T	ENST00000397801.1	+	23	3605	c.3413G>T	c.(3412-3414)cGa>cTa	p.R1138L	ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.R1116L|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1138					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCCCATCCCGAAGGGAAACC	0.632																																						dbGAP											0													58.0	67.0	64.0					11																	124748572		2016	4170	6186	-	-	-	SO:0001583	missense	0			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3413G>T	11.37:g.124748572G>T	ENSP00000380903:p.Arg1138Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1138L	ENST00000397801.1	37	c.3413	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	7.372	0.627108	0.14257	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.69561	-0.41;-0.41	4.59	-5.3	0.02738	.	2.264570	0.02793	N	0.122263	T	0.55226	0.1907	L	0.57536	1.79	0.27951	N	0.937158	B	0.28350	0.208	B	0.20384	0.029	T	0.41680	-0.9495	10	0.72032	D	0.01	.	1.9325	0.03330	0.3091:0.2071:0.3777:0.1061	.	1138	Q96MS0	ROBO3_HUMAN	L	1138;1116	ENSP00000380903:R1138L;ENSP00000441797:R1116L	ENSP00000380903:R1138L	R	+	2	0	ROBO3	124253782	0.722000	0.28017	0.088000	0.20740	0.091000	0.18340	0.461000	0.21940	-0.972000	0.03559	-0.233000	0.12211	CGA	ROBO3	-	NULL	ENSG00000154134		0.632	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	29	0.00	0	G	XM_370663		124748572	124748572	+1	no_errors	ENST00000397801	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.006	T
ROR2	4920	genome.wustl.edu	37	9	94484948	94484948	+	3'UTR	SNP	G	G	A	rs181673474	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:94484948G>A	ENST00000375708.3	-	0	4026				ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAATGTGTGCGGGGCACAGAC	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.*996C>T	9.37:g.94484948G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	RNA	SNP	-	NULL	ENST00000375708.3	37	NULL	CCDS6691.1	9																																																																																			ROR2	-	-	ENSG00000169071		0.488	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	27	0.00	0	G			94484948	94484948	-1	no_errors	ENST00000550066	ensembl	human	known	69_37n	rna	32	13.51	5	SNP	0.000	A
ROR2	4920	genome.wustl.edu	37	9	94484948	94484948	+	3'UTR	SNP	G	G	A	rs181673474	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:94484948G>A	ENST00000375708.3	-	0	4026				ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CAATGTGTGCGGGGCACAGAC	0.488													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17694	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.*996C>T	9.37:g.94484948G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	RNA	SNP	-	NULL	ENST00000375708.3	37	NULL	CCDS6691.1	9																																																																																			ROR2	-	-	ENSG00000169071		0.488	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	27	0.00	0	G			94484948	94484948	-1	no_errors	ENST00000550066	ensembl	human	known	69_37n	rna	32	13.51	5	SNP	0.000	A
ROR2	4920	genome.wustl.edu	37	9	94486604	94486604	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:94486604G>A	ENST00000375708.3	-	9	2370	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.L584L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACTCGATCATGAGGGCATACA	0.627																																						dbGAP											0													52.0	48.0	49.0					9																	94486604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2172C>T	9.37:g.94486604G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L724	ENST00000375708.3	37	c.2172	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169071		0.627	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	52	0.00	0	G			94486604	94486604	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	1.000	A
ROR2	4920	genome.wustl.edu	37	9	94486604	94486604	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:94486604G>A	ENST00000375708.3	-	9	2370	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Silent_p.L584L	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ACTCGATCATGAGGGCATACA	0.627																																						dbGAP											0													52.0	48.0	49.0					9																	94486604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2172C>T	9.37:g.94486604G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Silent	SNP	pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L724	ENST00000375708.3	37	c.2172	CCDS6691.1	9																																																																																			ROR2	-	pirsf_Tyr_kinase_rcpt_ROR,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169071		0.627	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	51	0.00	0	G			94486604	94486604	-1	no_errors	ENST00000375708	ensembl	human	known	69_37n	silent	25	16.67	5	SNP	1.000	A
RPN2	6185	genome.wustl.edu	37	20	35858460	35858460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:35858460C>T	ENST00000237530.6	+	13	1890	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Nonsense_Mutation_p.Q495*	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	527					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACAGGAAATTCAGGTATATCC	0.468																																						dbGAP											0													95.0	93.0	94.0					20																	35858460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1579C>T	20.37:g.35858460C>T	ENSP00000237530:p.Gln527*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Nonsense_Mutation	SNP	pfam_Ribophorin_II	p.Q527*	ENST00000237530.6	37	c.1579	CCDS13291.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.284332|9.284332	0.99125|0.99125	.|.	.|.	ENSG00000118705|ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329|ENST00000456400	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.107185|.	0.64402|.	D|.	0.000003|.	.|T	.|0.72985	.|0.3529	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70824	.|-0.4767	.|3	0.02654|.	T|.	1|.	-12.3374|-12.3374	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	527;495;66;51;66|51	.|.	ENSP00000237530:Q527X|.	Q|S	+|+	1|2	0|0	RPN2|RPN2	35291874|35291874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.229000|3.229000	0.51278|0.51278	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	RPN2	-	pfam_Ribophorin_II	ENSG00000118705		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	57	0.00	0	C	NM_002951		35858460	35858460	+1	no_errors	ENST00000237530	ensembl	human	known	69_37n	nonsense	35	27.08	13	SNP	1.000	T
RPN2	6185	genome.wustl.edu	37	20	35858460	35858460	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:35858460C>T	ENST00000237530.6	+	13	1890	c.1579C>T	c.(1579-1581)Cag>Tag	p.Q527*	RPN2_ENST00000470352.1_3'UTR|RPN2_ENST00000373622.5_Nonsense_Mutation_p.Q495*	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	527					aging (GO:0007568)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	ribosome binding (GO:0043022)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				ACAGGAAATTCAGGTATATCC	0.468																																						dbGAP											0													95.0	93.0	94.0					20																	35858460		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Y00282	CCDS13291.1, CCDS46599.1	20q12-q13.1	2013-03-06			ENSG00000118705	ENSG00000118705			10382	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	180490					Standard	NM_002951		Approved	SWP1, RPNII, RIBIIR, RPN-II	uc002xgp.3	P04844	OTTHUMG00000032409	ENST00000237530.6:c.1579C>T	20.37:g.35858460C>T	ENSP00000237530:p.Gln527*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JYR6|Q6IBA5|Q96E21|Q9BUQ3|Q9UBE1	Nonsense_Mutation	SNP	pfam_Ribophorin_II	p.Q527*	ENST00000237530.6	37	c.1579	CCDS13291.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.284332|9.284332	0.99125|0.99125	.|.	.|.	ENSG00000118705|ENSG00000118705	ENST00000237530;ENST00000373622;ENST00000397161;ENST00000373623;ENST00000437329|ENST00000456400	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.107185|.	0.64402|.	D|.	0.000003|.	.|T	.|0.72985	.|0.3529	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70824	.|-0.4767	.|3	0.02654|.	T|.	1|.	-12.3374|-12.3374	17.2626|17.2626	0.87075|0.87075	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	527;495;66;51;66|51	.|.	ENSP00000237530:Q527X|.	Q|S	+|+	1|2	0|0	RPN2|RPN2	35291874|35291874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	3.229000|3.229000	0.51278|0.51278	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA	RPN2	-	pfam_Ribophorin_II	ENSG00000118705		0.468	RPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN2	HGNC	protein_coding	OTTHUMT00000079076.2	59	0.00	0	C	NM_002951		35858460	35858460	+1	no_errors	ENST00000237530	ensembl	human	known	69_37n	nonsense	35	27.08	13	SNP	1.000	T
RSRC2	65117	genome.wustl.edu	37	12	122995686	122995686	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:122995686C>T	ENST00000331738.7	-	7	920	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	RSRC2_ENST00000354654.2_Missense_Mutation_p.E211K|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	259							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTTGTTTTTCAACCATTTCC	0.294																																						dbGAP											0													77.0	71.0	73.0					12																	122995686		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.775G>A	12.37:g.122995686C>T	ENSP00000330188:p.Glu259Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E259K	ENST00000331738.7	37	c.775	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898759	0.91962	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.49139	1.99;0.79;1.99	5.35	5.35	0.76521	.	0.043726	0.85682	D	0.000000	T	0.31949	0.0813	L	0.27053	0.805	0.58432	D	0.999998	P;P;P;B;B	0.40731	0.728;0.476;0.728;0.328;0.097	B;B;B;B;B	0.32980	0.156;0.111;0.156;0.111;0.006	T	0.12708	-1.0537	10	0.10902	T	0.67	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	259;211;259;200;27	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	K	259;211;259;200	ENSP00000330188:E259K;ENSP00000346678:E211K;ENSP00000343315:E200K	ENSP00000330188:E259K	E	-	1	0	RSRC2	121561639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GAA	RSRC2	-	NULL	ENSG00000111011		0.294	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	36	0.00	0	C	NM_023012		122995686	122995686	-1	no_errors	ENST00000331738	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
RSRC2	65117	genome.wustl.edu	37	12	122995686	122995686	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:122995686C>T	ENST00000331738.7	-	7	920	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	RSRC2_ENST00000354654.2_Missense_Mutation_p.E211K|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	259							poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		TTTTGTTTTTCAACCATTTCC	0.294																																						dbGAP											0													77.0	71.0	73.0					12																	122995686		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF161432	CCDS31920.1	12q24.31	2007-02-13			ENSG00000111011	ENSG00000111011			30559	protein-coding gene	gene with protein product						17203224	Standard	NM_023012		Approved	FLJ11021	uc001ucr.3	Q7L4I2	OTTHUMG00000167572	ENST00000331738.7:c.775G>A	12.37:g.122995686C>T	ENSP00000330188:p.Glu259Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6N040|Q6NW16|Q9H864	Missense_Mutation	SNP	NULL	p.E259K	ENST00000331738.7	37	c.775	CCDS31920.1	12	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898759	0.91962	.	.	ENSG00000111011	ENST00000331738;ENST00000354654;ENST00000418773;ENST00000344591	T;T;T	0.49139	1.99;0.79;1.99	5.35	5.35	0.76521	.	0.043726	0.85682	D	0.000000	T	0.31949	0.0813	L	0.27053	0.805	0.58432	D	0.999998	P;P;P;B;B	0.40731	0.728;0.476;0.728;0.328;0.097	B;B;B;B;B	0.32980	0.156;0.111;0.156;0.111;0.006	T	0.12708	-1.0537	10	0.10902	T	0.67	.	17.9941	0.89177	0.0:1.0:0.0:0.0	.	259;211;259;200;27	F5GXM2;Q7L4I2-2;Q7L4I2;E1B6W4;B3KMH4	.;.;RSRC2_HUMAN;.;.	K	259;211;259;200	ENSP00000330188:E259K;ENSP00000346678:E211K;ENSP00000343315:E200K	ENSP00000330188:E259K	E	-	1	0	RSRC2	121561639	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.920000	0.70017	2.656000	0.90262	0.591000	0.81541	GAA	RSRC2	-	NULL	ENSG00000111011		0.294	RSRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSRC2	HGNC	protein_coding	OTTHUMT00000395096.3	35	0.00	0	C	NM_023012		122995686	122995686	-1	no_errors	ENST00000331738	ensembl	human	known	69_37n	missense	23	20.69	6	SNP	1.000	T
RUFY4	285180	genome.wustl.edu	37	2	218947953	218947953	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:218947953G>A	ENST00000344321.7	+	11	1994	c.1476G>A	c.(1474-1476)atG>atA	p.M492I	RUFY4_ENST00000374155.3_Missense_Mutation_p.M512I|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	492							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAGGCCATGAAGAGGCGGG	0.597																																						dbGAP											0													96.0	97.0	97.0					2																	218947953		2057	4193	6250	-	-	-	SO:0001583	missense	0			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1476G>A	2.37:g.218947953G>A	ENSP00000345900:p.Met492Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.M512I	ENST00000344321.7	37	c.1536		2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497161	0.44352	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.75477	-0.94;0.33	4.27	4.27	0.50696	Zinc finger, FYVE/PHD-type (1);	0.327366	0.26366	N	0.024782	T	0.66973	0.2844	L	0.48362	1.52	0.80722	D	1	P	0.47034	0.889	B	0.41036	0.346	T	0.69176	-0.5214	10	0.42905	T	0.14	-4.077	12.0492	0.53498	0.0:0.0:1.0:0.0	.	492	Q6ZNE9	RUFY4_HUMAN	I	492;512	ENSP00000345900:M492I;ENSP00000363270:M512I	ENSP00000345900:M492I	M	+	3	0	RUFY4	218656198	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	4.452000	0.60054	2.184000	0.69523	0.555000	0.69702	ATG	RUFY4	-	superfamily_Znf_FYVE_PHD	ENSG00000188282		0.597	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		56	0.00	0	G	NM_198483		218947953	218947953	+1	no_errors	ENST00000374155	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
RUFY4	285180	genome.wustl.edu	37	2	218947953	218947953	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:218947953G>A	ENST00000344321.7	+	11	1994	c.1476G>A	c.(1474-1476)atG>atA	p.M492I	RUFY4_ENST00000374155.3_Missense_Mutation_p.M512I|RUFY4_ENST00000441828.2_3'UTR	NM_198483.3	NP_940885.2	Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	492							metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCCAGGCCATGAAGAGGCGGG	0.597																																						dbGAP											0													96.0	97.0	97.0					2																	218947953		2057	4193	6250	-	-	-	SO:0001583	missense	0			AK128393		2q35	2007-01-29			ENSG00000188282	ENSG00000188282		"""Zinc fingers, FYVE domain containing"""	24804	protein-coding gene	gene with protein product							Standard	NM_198483		Approved	FLJ46536	uc010fvl.2	Q6ZNE9	OTTHUMG00000155235	ENST00000344321.7:c.1476G>A	2.37:g.218947953G>A	ENSP00000345900:p.Met492Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZR96	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run	p.M512I	ENST00000344321.7	37	c.1536		2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497161	0.44352	.	.	ENSG00000188282	ENST00000344321;ENST00000374155	T;T	0.75477	-0.94;0.33	4.27	4.27	0.50696	Zinc finger, FYVE/PHD-type (1);	0.327366	0.26366	N	0.024782	T	0.66973	0.2844	L	0.48362	1.52	0.80722	D	1	P	0.47034	0.889	B	0.41036	0.346	T	0.69176	-0.5214	10	0.42905	T	0.14	-4.077	12.0492	0.53498	0.0:0.0:1.0:0.0	.	492	Q6ZNE9	RUFY4_HUMAN	I	492;512	ENSP00000345900:M492I;ENSP00000363270:M512I	ENSP00000345900:M492I	M	+	3	0	RUFY4	218656198	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	4.452000	0.60054	2.184000	0.69523	0.555000	0.69702	ATG	RUFY4	-	superfamily_Znf_FYVE_PHD	ENSG00000188282		0.597	RUFY4-201	KNOWN	basic|appris_principal	protein_coding	RUFY4	HGNC	protein_coding		52	0.00	0	G	NM_198483		218947953	218947953	+1	no_errors	ENST00000374155	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	A
RYR1	6261	genome.wustl.edu	37	19	38993249	38993249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:38993249G>C	ENST00000359596.3	+	48	7717	c.7717G>C	c.(7717-7719)Gaa>Caa	p.E2573Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E2573Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E2573Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2573	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCGGGCACAGAACACCGCGC	0.632																																						dbGAP											0													74.0	57.0	63.0					19																	38993249		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7717G>C	19.37:g.38993249G>C	ENSP00000352608:p.Glu2573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2573Q	ENST00000359596.3	37	c.7717	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353846	0.41700	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93019	-3.15;-3.15;-3.15	3.89	3.89	0.44902	.	0.074610	0.51477	U	0.000091	D	0.94814	0.8325	M	0.82323	2.585	0.48288	D	0.999629	P;P	0.48162	0.906;0.61	P;B	0.49192	0.602;0.19	D	0.95780	0.8816	10	0.87932	D	0	.	15.128	0.72497	0.0:0.0:1.0:0.0	.	2573;2573	P21817-2;P21817	.;RYR1_HUMAN	Q	2573	ENSP00000352608:E2573Q;ENSP00000347667:E2573Q;ENSP00000354254:E2573Q	ENSP00000347667:E2573Q	E	+	1	0	RYR1	43685089	1.000000	0.71417	0.933000	0.37362	0.813000	0.45954	9.456000	0.97628	2.159000	0.67721	0.313000	0.20887	GAA	RYR1	-	NULL	ENSG00000196218		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	57	0.00	0	G			38993249	38993249	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	C
RYR1	6261	genome.wustl.edu	37	19	38993249	38993249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:38993249G>C	ENST00000359596.3	+	48	7717	c.7717G>C	c.(7717-7719)Gaa>Caa	p.E2573Q	RYR1_ENST00000360985.3_Missense_Mutation_p.E2573Q|RYR1_ENST00000355481.4_Missense_Mutation_p.E2573Q			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2573	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGCGGGCACAGAACACCGCGC	0.632																																						dbGAP											0													74.0	57.0	63.0					19																	38993249		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7717G>C	19.37:g.38993249G>C	ENSP00000352608:p.Glu2573Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.E2573Q	ENST00000359596.3	37	c.7717	CCDS33011.1	19	.	.	.	.	.	.	.	.	.	.	G	13.83	2.353846	0.41700	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.93019	-3.15;-3.15;-3.15	3.89	3.89	0.44902	.	0.074610	0.51477	U	0.000091	D	0.94814	0.8325	M	0.82323	2.585	0.48288	D	0.999629	P;P	0.48162	0.906;0.61	P;B	0.49192	0.602;0.19	D	0.95780	0.8816	10	0.87932	D	0	.	15.128	0.72497	0.0:0.0:1.0:0.0	.	2573;2573	P21817-2;P21817	.;RYR1_HUMAN	Q	2573	ENSP00000352608:E2573Q;ENSP00000347667:E2573Q;ENSP00000354254:E2573Q	ENSP00000347667:E2573Q	E	+	1	0	RYR1	43685089	1.000000	0.71417	0.933000	0.37362	0.813000	0.45954	9.456000	0.97628	2.159000	0.67721	0.313000	0.20887	GAA	RYR1	-	NULL	ENSG00000196218		0.632	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	30	0.00	0	G			38993249	38993249	+1	no_errors	ENST00000359596	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237948218	237948218	+	Silent	SNP	C	C	T	rs397516509		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:237948218C>T	ENST00000366574.2	+	90	13523	c.13206C>T	c.(13204-13206)ctC>ctT	p.L4402L	RYR2_ENST00000360064.6_Silent_p.L4408L|RYR2_ENST00000542537.1_Silent_p.L4386L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4402					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCTGGGCTCAGTGACCTCA	0.468																																						dbGAP											0													28.0	26.0	27.0					1																	237948218		1924	4138	6062	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13206C>T	1.37:g.237948218C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L4408	ENST00000366574.2	37	c.13224	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	40	0.00	0	C	NM_001035		237948218	237948218	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	39	20.41	10	SNP	0.975	T
RYR2	6262	genome.wustl.edu	37	1	237948218	237948218	+	Silent	SNP	C	C	T	rs397516509		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:237948218C>T	ENST00000366574.2	+	90	13523	c.13206C>T	c.(13204-13206)ctC>ctT	p.L4402L	RYR2_ENST00000360064.6_Silent_p.L4408L|RYR2_ENST00000542537.1_Silent_p.L4386L|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4402					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCTGGGCTCAGTGACCTCA	0.468																																						dbGAP											0													28.0	26.0	27.0					1																	237948218		1924	4138	6062	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13206C>T	1.37:g.237948218C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.L4408	ENST00000366574.2	37	c.13224	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.468	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	50	0.00	0	C	NM_001035		237948218	237948218	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	39	20.41	10	SNP	0.975	T
SACS	26278	genome.wustl.edu	37	13	23911546	23911546	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:23911546C>A	ENST00000382292.3	-	9	6742	c.6469G>T	c.(6469-6471)Gat>Tat	p.D2157Y	SACS_ENST00000382298.3_Missense_Mutation_p.D2157Y|SACS_ENST00000402364.1_Missense_Mutation_p.D1407Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2157					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATAAAATATCATCTTTTGCC	0.333																																						dbGAP											0													66.0	66.0	66.0					13																	23911546		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6469G>T	13.37:g.23911546C>A	ENSP00000371729:p.Asp2157Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.D2157Y	ENST00000382292.3	37	c.6469	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466771	0.63625	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	L	0.59436	1.845	0.58432	D	0.999996	D	0.71674	0.998	D	0.69824	0.966	D	0.92676	0.6154	10	0.51188	T	0.08	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	2157	Q9NZJ4	SACS_HUMAN	Y	2157;1407;2157	ENSP00000371729:D2157Y;ENSP00000385844:D1407Y;ENSP00000371735:D2157Y	ENSP00000371729:D2157Y	D	-	1	0	SACS	22809546	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	GAT	SACS	-	NULL	ENSG00000151835		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	34	0.00	0	C	NM_014363		23911546	23911546	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	A
SACS	26278	genome.wustl.edu	37	13	23911546	23911546	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:23911546C>A	ENST00000382292.3	-	9	6742	c.6469G>T	c.(6469-6471)Gat>Tat	p.D2157Y	SACS_ENST00000382298.3_Missense_Mutation_p.D2157Y|SACS_ENST00000402364.1_Missense_Mutation_p.D1407Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2157					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CATAAAATATCATCTTTTGCC	0.333																																						dbGAP											0													66.0	66.0	66.0					13																	23911546		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.6469G>T	13.37:g.23911546C>A	ENSP00000371729:p.Asp2157Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.D2157Y	ENST00000382292.3	37	c.6469	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466771	0.63625	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88431	-2.24;-2.38;-2.24	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.93527	0.7934	L	0.59436	1.845	0.58432	D	0.999996	D	0.71674	0.998	D	0.69824	0.966	D	0.92676	0.6154	10	0.51188	T	0.08	.	20.3311	0.98718	0.0:1.0:0.0:0.0	.	2157	Q9NZJ4	SACS_HUMAN	Y	2157;1407;2157	ENSP00000371729:D2157Y;ENSP00000385844:D1407Y;ENSP00000371735:D2157Y	ENSP00000371729:D2157Y	D	-	1	0	SACS	22809546	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	7.487000	0.81328	2.803000	0.96430	0.650000	0.86243	GAT	SACS	-	NULL	ENSG00000151835		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	38	0.00	0	C	NM_014363		23911546	23911546	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	1.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39866466	39866466	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:39866466G>A	ENST00000314471.6	+	7	1879	c.844G>A	c.(844-846)Gag>Aag	p.E282K	SAMD4B_ENST00000598913.1_Missense_Mutation_p.E282K|SAMD4B_ENST00000596368.1_Missense_Mutation_p.E282K	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTCTGGCAGTGAGCAGACAGA	0.632																																						dbGAP											0													58.0	57.0	57.0					19																	39866466		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.844G>A	19.37:g.39866466G>A	ENSP00000317224:p.Glu282Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E282K	ENST00000314471.6	37	c.844	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.706999	0.96821	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.64521	-0.6388	9	0.40728	T	0.16	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	282;282	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	K	282	.	ENSP00000317224:E282K	E	+	1	0	SAMD4B	44558306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.521000	0.98029	2.608000	0.88229	0.462000	0.41574	GAG	SAMD4B	-	NULL	ENSG00000179134		0.632	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	75	0.00	0	G	NM_018028		39866466	39866466	+1	no_errors	ENST00000314471	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39866466	39866466	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:39866466G>A	ENST00000314471.6	+	7	1879	c.844G>A	c.(844-846)Gag>Aag	p.E282K	SAMD4B_ENST00000598913.1_Missense_Mutation_p.E282K|SAMD4B_ENST00000596368.1_Missense_Mutation_p.E282K	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTCTGGCAGTGAGCAGACAGA	0.632																																						dbGAP											0													58.0	57.0	57.0					19																	39866466		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.844G>A	19.37:g.39866466G>A	ENSP00000317224:p.Glu282Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5Z0M6|Q6P194	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.E282K	ENST00000314471.6	37	c.844	CCDS33020.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.706999	0.96821	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66297	0.2775	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.63880	0.993;0.993	D;D	0.68192	0.956;0.956	T	0.64521	-0.6388	9	0.40728	T	0.16	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	282;282	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	K	282	.	ENSP00000317224:E282K	E	+	1	0	SAMD4B	44558306	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.521000	0.98029	2.608000	0.88229	0.462000	0.41574	GAG	SAMD4B	-	NULL	ENSG00000179134		0.632	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	49	0.00	0	G	NM_018028		39866466	39866466	+1	no_errors	ENST00000314471	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	1.000	A
SAP30BP	29115	genome.wustl.edu	37	17	73686772	73686772	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:73686772G>C	ENST00000584667.1	+	4	521				SAP30BP_ENST00000579864.1_Intron|SAP30BP_ENST00000355423.3_Intron	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACAGTGACAGAGGCACCCAG	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.265-2748G>C	17.37:g.73686772G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCNGP	p.R78T	ENST00000584667.1	37	c.233	CCDS11726.1	17																																																																																			SAP30BP	-	NULL	ENSG00000161526		0.522	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1	40	0.00	0	G	NM_013260		73686772	73686772	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583536	ensembl	human	novel	69_37n	missense	18	28.00	7	SNP	0.000	C
SAP30BP	29115	genome.wustl.edu	37	17	73686772	73686772	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:73686772G>C	ENST00000584667.1	+	4	521				SAP30BP_ENST00000579864.1_Intron|SAP30BP_ENST00000355423.3_Intron	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACAGTGACAGAGGCACCCAG	0.522																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.265-2748G>C	17.37:g.73686772G>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_HCNGP	p.R78T	ENST00000584667.1	37	c.233	CCDS11726.1	17																																																																																			SAP30BP	-	NULL	ENSG00000161526		0.522	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP30BP	HGNC	protein_coding	OTTHUMT00000448227.1	29	0.00	0	G	NM_013260		73686772	73686772	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000583536	ensembl	human	novel	69_37n	missense	18	28.00	7	SNP	0.000	C
SCAPER	49855	genome.wustl.edu	37	15	77046211	77046211	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:77046211C>T	ENST00000563290.1	-	15	1899	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	SCAPER_ENST00000324767.7_Missense_Mutation_p.E602K|SCAPER_ENST00000538941.2_Missense_Mutation_p.E356K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	602	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGCTTAAACTCAGCATGAAGT	0.383																																						dbGAP											0													231.0	219.0	223.0					15																	77046211		1872	4091	5963	-	-	-	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1804G>A	15.37:g.77046211C>T	ENSP00000454973:p.Glu602Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E602K	ENST00000563290.1	37	c.1804	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.719171	0.96839	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.33865	1.43;1.39	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.60342	-0.7282	10	0.49607	T	0.09	.	19.9716	0.97286	0.0:1.0:0.0:0.0	.	623;356	Q9BY12-2;F5H7X8	.;.	K	602;356;624	ENSP00000326924:E602K;ENSP00000442190:E356K	ENSP00000303560:E624K	E	-	1	0	SCAPER	74833266	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.596000	0.82721	2.718000	0.92993	0.655000	0.94253	GAG	SCAPER	-	NULL	ENSG00000140386		0.383	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	66	0.00	0	C	NM_020843		77046211	77046211	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	T
SCAPER	49855	genome.wustl.edu	37	15	77046211	77046211	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:77046211C>T	ENST00000563290.1	-	15	1899	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	SCAPER_ENST00000324767.7_Missense_Mutation_p.E602K|SCAPER_ENST00000538941.2_Missense_Mutation_p.E356K			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	602	Glu-rich.					endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGCTTAAACTCAGCATGAAGT	0.383																																						dbGAP											0													231.0	219.0	223.0					15																	77046211		1872	4091	5963	-	-	-	SO:0001583	missense	0			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.1804G>A	15.37:g.77046211C>T	ENSP00000454973:p.Glu602Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Missense_Mutation	SNP	smart_Znf_U1	p.E602K	ENST00000563290.1	37	c.1804	CCDS53962.1	15	.	.	.	.	.	.	.	.	.	.	C	36	5.719171	0.96839	.	.	ENSG00000140386	ENST00000324767;ENST00000538941;ENST00000303521	T;T	0.33865	1.43;1.39	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62368	0.2422	M	0.73217	2.22	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.60342	-0.7282	10	0.49607	T	0.09	.	19.9716	0.97286	0.0:1.0:0.0:0.0	.	623;356	Q9BY12-2;F5H7X8	.;.	K	602;356;624	ENSP00000326924:E602K;ENSP00000442190:E356K	ENSP00000303560:E624K	E	-	1	0	SCAPER	74833266	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.596000	0.82721	2.718000	0.92993	0.655000	0.94253	GAG	SCAPER	-	NULL	ENSG00000140386		0.383	SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAPER	HGNC	protein_coding	OTTHUMT00000419698.1	76	0.00	0	C	NM_020843		77046211	77046211	-1	no_errors	ENST00000324767	ensembl	human	known	69_37n	missense	24	29.41	10	SNP	1.000	T
SCD5	79966	genome.wustl.edu	37	4	83552510	83552510	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:83552510C>G	ENST00000319540.4	-	5	1282	c.963G>C	c.(961-963)cgG>cgC	p.R321R		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	321					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCCTGGCCTTCCGGGCCTCGA	0.537																																						dbGAP											0													70.0	51.0	57.0					4																	83552510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.963G>C	4.37:g.83552510C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R321	ENST00000319540.4	37	c.963	CCDS34024.1	4																																																																																			SCD5	-	NULL	ENSG00000145284		0.537	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	96	0.00	0	C	NM_024906		83552510	83552510	-1	no_errors	ENST00000319540	ensembl	human	known	69_37n	silent	20	42.86	15	SNP	0.949	G
SCD5	79966	genome.wustl.edu	37	4	83552510	83552510	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:83552510C>G	ENST00000319540.4	-	5	1282	c.963G>C	c.(961-963)cgG>cgC	p.R321R		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	321					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCCTGGCCTTCCGGGCCTCGA	0.537																																						dbGAP											0													70.0	51.0	57.0					4																	83552510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.963G>C	4.37:g.83552510C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Silent	SNP	pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core	p.R321	ENST00000319540.4	37	c.963	CCDS34024.1	4																																																																																			SCD5	-	NULL	ENSG00000145284		0.537	SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCD5	HGNC	protein_coding	OTTHUMT00000252635.1	77	0.00	0	C	NM_024906		83552510	83552510	-1	no_errors	ENST00000319540	ensembl	human	known	69_37n	silent	20	42.86	15	SNP	0.949	G
SCLT1	132320	genome.wustl.edu	37	4	129867259	129867259	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:129867259C>G	ENST00000281142.5	-	16	1845	c.1342G>C	c.(1342-1344)Gaa>Caa	p.E448Q	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	448					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGGTGCATTTCTTCCAGTTTT	0.353																																						dbGAP											0													107.0	100.0	102.0					4																	129867259		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1342G>C	4.37:g.129867259C>G	ENSP00000281142:p.Glu448Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E448Q	ENST00000281142.5	37	c.1342	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300709	0.60195	.	.	ENSG00000151466	ENST00000281142	T	0.09630	2.96	4.15	4.15	0.48705	.	0.119193	0.56097	D	0.000038	T	0.25044	0.0608	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.01162	-1.1432	9	.	.	.	-12.3631	15.5841	0.76468	0.0:1.0:0.0:0.0	.	448	Q96NL6	SCLT1_HUMAN	Q	448	ENSP00000281142:E448Q	.	E	-	1	0	SCLT1	130086709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	2.015000	0.59207	0.555000	0.69702	GAA	SCLT1	-	NULL	ENSG00000151466		0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	61	0.00	0	C	NM_144643		129867259	129867259	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	G
SCLT1	132320	genome.wustl.edu	37	4	129867259	129867259	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:129867259C>G	ENST00000281142.5	-	16	1845	c.1342G>C	c.(1342-1344)Gaa>Caa	p.E448Q	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	448					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TGGTGCATTTCTTCCAGTTTT	0.353																																						dbGAP											0													107.0	100.0	102.0					4																	129867259		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.1342G>C	4.37:g.129867259C>G	ENSP00000281142:p.Glu448Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN04|Q0VAH2|Q6P2M4	Missense_Mutation	SNP	NULL	p.E448Q	ENST00000281142.5	37	c.1342	CCDS3740.1	4	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300709	0.60195	.	.	ENSG00000151466	ENST00000281142	T	0.09630	2.96	4.15	4.15	0.48705	.	0.119193	0.56097	D	0.000038	T	0.25044	0.0608	L	0.50333	1.59	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.01162	-1.1432	9	.	.	.	-12.3631	15.5841	0.76468	0.0:1.0:0.0:0.0	.	448	Q96NL6	SCLT1_HUMAN	Q	448	ENSP00000281142:E448Q	.	E	-	1	0	SCLT1	130086709	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.514000	0.53422	2.015000	0.59207	0.555000	0.69702	GAA	SCLT1	-	NULL	ENSG00000151466		0.353	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCLT1	HGNC	protein_coding	OTTHUMT00000257176.2	49	0.00	0	C	NM_144643		129867259	129867259	-1	no_errors	ENST00000281142	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	G
SCN8A	6334	genome.wustl.edu	37	12	52163658	52163658	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:52163658G>T	ENST00000354534.6	+	18	3557	c.3379G>T	c.(3379-3381)Gat>Tat	p.D1127Y	SCN8A_ENST00000545061.1_Missense_Mutation_p.D1127Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1127					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTAGAAACTAGATGACACCAG	0.527																																						dbGAP											0													48.0	49.0	48.0					12																	52163658		2059	4217	6276	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3379G>T	12.37:g.52163658G>T	ENSP00000346534:p.Asp1127Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D1127Y	ENST00000354534.6	37	c.3379	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297445	0.81025	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84070	-1.8;-1.8;-1.8	5.21	5.21	0.72293	Sodium ion transport-associated (1);	0.279029	0.34338	N	0.004042	D	0.91459	0.7304	M	0.87682	2.9	0.80722	D	1	D;D	0.64830	0.994;0.979	P;P	0.60789	0.879;0.767	D	0.91426	0.5162	10	0.49607	T	0.09	.	19.3432	0.94352	0.0:0.0:1.0:0.0	.	1127;1127	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	Y	1127;1127;1127;1040	ENSP00000346534:D1127Y;ENSP00000440360:D1127Y;ENSP00000347255:D1127Y	ENSP00000346534:D1127Y	D	+	1	0	SCN8A	50449925	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.807000	0.86032	2.884000	0.98904	0.655000	0.94253	GAT	SCN8A	-	pfam_Na_trans_assoc	ENSG00000196876		0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	60	0.00	0	G	NM_014191		52163658	52163658	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	T
SCN8A	6334	genome.wustl.edu	37	12	52163658	52163658	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:52163658G>T	ENST00000354534.6	+	18	3557	c.3379G>T	c.(3379-3381)Gat>Tat	p.D1127Y	SCN8A_ENST00000545061.1_Missense_Mutation_p.D1127Y	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1127					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CTAGAAACTAGATGACACCAG	0.527																																						dbGAP											0													48.0	49.0	48.0					12																	52163658		2059	4217	6276	-	-	-	SO:0001583	missense	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.3379G>T	12.37:g.52163658G>T	ENSP00000346534:p.Asp1127Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.D1127Y	ENST00000354534.6	37	c.3379	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297445	0.81025	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D	0.84070	-1.8;-1.8;-1.8	5.21	5.21	0.72293	Sodium ion transport-associated (1);	0.279029	0.34338	N	0.004042	D	0.91459	0.7304	M	0.87682	2.9	0.80722	D	1	D;D	0.64830	0.994;0.979	P;P	0.60789	0.879;0.767	D	0.91426	0.5162	10	0.49607	T	0.09	.	19.3432	0.94352	0.0:0.0:1.0:0.0	.	1127;1127	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	Y	1127;1127;1127;1040	ENSP00000346534:D1127Y;ENSP00000440360:D1127Y;ENSP00000347255:D1127Y	ENSP00000346534:D1127Y	D	+	1	0	SCN8A	50449925	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.807000	0.86032	2.884000	0.98904	0.655000	0.94253	GAT	SCN8A	-	pfam_Na_trans_assoc	ENSG00000196876		0.527	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	43	0.00	0	G	NM_014191		52163658	52163658	+1	no_errors	ENST00000354534	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	1.000	T
TMEM199	147007	genome.wustl.edu	37	17	26691951	26691951	+	IGR	SNP	G	G	A	rs538721924		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:26691951G>A	ENST00000292114.3	+	0	3148				CTB-96E2.7_ENST00000577850.1_RNA|VTN_ENST00000438614.1_Missense_Mutation_p.R45W|CTB-96E2.2_ENST00000555059.2_Missense_Mutation_p.P119L|VTN_ENST00000431468.1_Missense_Mutation_p.R46W|VTN_ENST00000536498.1_Missense_Mutation_p.R45W|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGCTTTCTCCGGTGGGAACCC	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17648	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													39.0	46.0	44.0					17																	26691951		2184	4279	6463	-	-	-	SO:0001628	intergenic_variant	0			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26691951G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R46W	ENST00000292114.3	37	c.136	CCDS11228.1	17	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388179	0.42308	.	.	ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000109072;ENSG00000258852	ENST00000431468;ENST00000536498;ENST00000438614;ENST00000247029;ENST00000555059	D;D;D	0.97352	-4.35;-4.35;-4.35	5.31	2.19	0.27852	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.152844	0.30260	N	0.010039	D	0.95903	0.8666	M	0.92122	3.275	0.09310	N	0.999999	P;B	0.35551	0.509;0.087	B;B	0.27608	0.081;0.048	D	0.91813	0.5461	10	0.87932	D	0	.	5.9389	0.19181	0.1466:0.0:0.6968:0.1566	.	46;45	Q9HB31;C9JDG5	SEBOX_HUMAN;.	W	46;45;45;50;71	ENSP00000416240:R46W;ENSP00000444503:R45W;ENSP00000395142:R45W	ENSP00000247029:R50W	R	-	1	2	VTN;CTB-96E2.2	23716078	0.003000	0.15002	0.618000	0.29105	0.283000	0.27025	1.172000	0.31908	0.357000	0.24183	0.561000	0.74099	CGG	SEBOX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000109072		0.627	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEBOX	HGNC	protein_coding	OTTHUMT00000255676.2	43	0.00	0	G	NM_152464		26691951	26691951	-1	no_errors	ENST00000431468	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.057	A
SEL1L3	23231	genome.wustl.edu	37	4	25785868	25785868	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:25785868C>T	ENST00000399878.3	-	14	2384	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	754						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTTTCTTCATCAGCTCTA	0.443																																						dbGAP											0													225.0	227.0	226.0					4																	25785868		2022	4177	6199	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2262G>A	4.37:g.25785868C>T	ENSP00000382767:p.Met754Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.M754I	ENST00000399878.3	37	c.2262	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308561	0.81247	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.49720	0.77;0.77;0.77	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048817	0.85682	D	0.000000	T	0.50309	0.1608	N	0.14661	0.345	0.44531	D	0.997481	P;D	0.54047	0.884;0.964	P;P	0.58660	0.761;0.843	T	0.53613	-0.8414	10	0.48119	T	0.1	-28.5897	19.1718	0.93581	0.0:1.0:0.0:0.0	.	161;754	B4DTH5;Q68CR1	.;SE1L3_HUMAN	I	754;719;601	ENSP00000382767:M754I;ENSP00000264868:M719I;ENSP00000425438:M601I	ENSP00000264868:M719I	M	-	3	0	SEL1L3	25394966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.403000	0.66338	2.643000	0.89663	0.555000	0.69702	ATG	SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	85	0.00	0	C	NM_015187		25785868	25785868	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	T
SEL1L3	23231	genome.wustl.edu	37	4	25785868	25785868	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:25785868C>T	ENST00000399878.3	-	14	2384	c.2262G>A	c.(2260-2262)atG>atA	p.M754I	SEL1L3_ENST00000502949.1_Missense_Mutation_p.M601I|SEL1L3_ENST00000264868.5_Missense_Mutation_p.M719I	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	754						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTGCTTTCTTCATCAGCTCTA	0.443																																						dbGAP											0													225.0	227.0	226.0					4																	25785868		2022	4177	6199	-	-	-	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.2262G>A	4.37:g.25785868C>T	ENSP00000382767:p.Met754Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	pfam_Sel1-like,superfamily_ConA-like_lec_gl,smart_Sel1-like	p.M754I	ENST00000399878.3	37	c.2262	CCDS47037.1	4	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308561	0.81247	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.49720	0.77;0.77;0.77	5.58	5.58	0.84498	Tetratricopeptide-like helical (1);	0.048817	0.85682	D	0.000000	T	0.50309	0.1608	N	0.14661	0.345	0.44531	D	0.997481	P;D	0.54047	0.884;0.964	P;P	0.58660	0.761;0.843	T	0.53613	-0.8414	10	0.48119	T	0.1	-28.5897	19.1718	0.93581	0.0:1.0:0.0:0.0	.	161;754	B4DTH5;Q68CR1	.;SE1L3_HUMAN	I	754;719;601	ENSP00000382767:M754I;ENSP00000264868:M719I;ENSP00000425438:M601I	ENSP00000264868:M719I	M	-	3	0	SEL1L3	25394966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.403000	0.66338	2.643000	0.89663	0.555000	0.69702	ATG	SEL1L3	-	pfam_Sel1-like,smart_Sel1-like	ENSG00000091490		0.443	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEL1L3	HGNC	protein_coding	OTTHUMT00000360261.1	71	0.00	0	C	NM_015187		25785868	25785868	-1	no_errors	ENST00000399878	ensembl	human	known	69_37n	missense	53	11.67	7	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47098919	47098919	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:47098919C>T	ENST00000409792.3	-	15	6397	c.6355G>A	c.(6355-6357)Gag>Aag	p.E2119K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2119					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGGCGTTCCTCTGTAGAAAGT	0.428			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													74.0	75.0	75.0					3																	47098919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6355G>A	3.37:g.47098919C>T	ENSP00000386759:p.Glu2119Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.E2119K	ENST00000409792.3	37	c.6355	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	31	5.083327	0.94050	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23348	1.91	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000013	T	0.48259	0.1490	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.41716	-0.9493	10	0.59425	D	0.04	.	18.7956	0.91993	0.0:1.0:0.0:0.0	.	2119;2119	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2119	ENSP00000386759:E2119K	ENSP00000386759:E2119K	E	-	1	0	SETD2	47073923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.250000	0.78287	2.755000	0.94549	0.655000	0.94253	GAG	SETD2	-	NULL	ENSG00000181555		0.428	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	81	0.00	0	C	NM_014159		47098919	47098919	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47098919	47098919	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:47098919C>T	ENST00000409792.3	-	15	6397	c.6355G>A	c.(6355-6357)Gag>Aag	p.E2119K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2119					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CGGCGTTCCTCTGTAGAAAGT	0.428			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													74.0	75.0	75.0					3																	47098919		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6355G>A	3.37:g.47098919C>T	ENSP00000386759:p.Glu2119Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.E2119K	ENST00000409792.3	37	c.6355	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	C	31	5.083327	0.94050	.	.	ENSG00000181555	ENST00000451092;ENST00000409792	T	0.23348	1.91	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000013	T	0.48259	0.1490	L	0.53249	1.67	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.41716	-0.9493	10	0.59425	D	0.04	.	18.7956	0.91993	0.0:1.0:0.0:0.0	.	2119;2119	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	2119	ENSP00000386759:E2119K	ENSP00000386759:E2119K	E	-	1	0	SETD2	47073923	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.250000	0.78287	2.755000	0.94549	0.655000	0.94253	GAG	SETD2	-	NULL	ENSG00000181555		0.428	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	78	0.00	0	C	NM_014159		47098919	47098919	-1	no_errors	ENST00000409792	ensembl	human	known	69_37n	missense	42	22.22	12	SNP	1.000	T
SEMA5B	54437	genome.wustl.edu	37	3	122641112	122641112	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:122641112G>A	ENST00000357599.3	-	11	1841	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	SEMA5B_ENST00000195173.4_Silent_p.L485L|SEMA5B_ENST00000451055.2_Silent_p.L539L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667																																						dbGAP											0													68.0	59.0	62.0					3																	122641112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1455C>T	3.37:g.122641112G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.L539	ENST00000357599.3	37	c.1617	CCDS35491.1	3																																																																																			SEMA5B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000082684		0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	63	0.00	0	G	NM_001031702		122641112	122641112	-1	no_errors	ENST00000451055	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.999	A
SEMA5B	54437	genome.wustl.edu	37	3	122641112	122641112	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:122641112G>A	ENST00000357599.3	-	11	1841	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	SEMA5B_ENST00000195173.4_Silent_p.L485L|SEMA5B_ENST00000451055.2_Silent_p.L539L	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667																																						dbGAP											0													68.0	59.0	62.0					3																	122641112		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1455C>T	3.37:g.122641112G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt	p.L539	ENST00000357599.3	37	c.1617	CCDS35491.1	3																																																																																			SEMA5B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000082684		0.667	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	SEMA5B	HGNC	protein_coding	OTTHUMT00000277165.1	55	0.00	0	G	NM_001031702		122641112	122641112	-1	no_errors	ENST00000451055	ensembl	human	known	69_37n	silent	28	34.88	15	SNP	0.999	A
SGIP1	84251	genome.wustl.edu	37	1	67147978	67147978	+	Missense_Mutation	SNP	C	C	T	rs369259312		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:67147978C>T	ENST00000371037.4	+	15	1318	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	SGIP1_ENST00000237247.6_Missense_Mutation_p.P418L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	414	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCACCTCCCCCACCACCACCC	0.522																																						dbGAP											0													91.0	104.0	100.0					1																	67147978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1241C>T	1.37:g.67147978C>T	ENSP00000360076:p.Pro414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P418L	ENST00000371037.4	37	c.1253	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401585	0.62288	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03035	4.07;4.07	5.19	4.21	0.49690	.	0.058512	0.64402	D	0.000001	T	0.05502	0.0145	L	0.38531	1.155	0.80722	D	1	D;P	0.89917	1.0;0.622	D;B	0.85130	0.997;0.193	T	0.57642	-0.7776	10	0.20046	T	0.44	-10.5829	14.8178	0.70048	0.1445:0.8554:0.0:0.0	.	417;414	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	418;417;417;414	ENSP00000237247:P418L;ENSP00000360076:P414L	ENSP00000237247:P418L	P	+	2	0	SGIP1	66920566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.246000	0.58740	2.570000	0.86706	0.455000	0.32223	CCA	SGIP1	-	NULL	ENSG00000118473		0.522	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	26	0.00	0	C	NM_032291		67147978	67147978	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	T
SGIP1	84251	genome.wustl.edu	37	1	67147978	67147978	+	Missense_Mutation	SNP	C	C	T	rs369259312		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:67147978C>T	ENST00000371037.4	+	15	1318	c.1241C>T	c.(1240-1242)cCa>cTa	p.P414L	SGIP1_ENST00000237247.6_Missense_Mutation_p.P418L|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	414	Pro-rich.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCACCTCCCCCACCACCACCC	0.522																																						dbGAP											0													91.0	104.0	100.0					1																	67147978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.1241C>T	1.37:g.67147978C>T	ENSP00000360076:p.Pro414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Missense_Mutation	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P418L	ENST00000371037.4	37	c.1253	CCDS30744.1	1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401585	0.62288	.	.	ENSG00000118473	ENST00000237247;ENST00000371038;ENST00000407289;ENST00000371037	T;T	0.03035	4.07;4.07	5.19	4.21	0.49690	.	0.058512	0.64402	D	0.000001	T	0.05502	0.0145	L	0.38531	1.155	0.80722	D	1	D;P	0.89917	1.0;0.622	D;B	0.85130	0.997;0.193	T	0.57642	-0.7776	10	0.20046	T	0.44	-10.5829	14.8178	0.70048	0.1445:0.8554:0.0:0.0	.	417;414	A6NEV3;Q9BQI5	.;SGIP1_HUMAN	L	418;417;417;414	ENSP00000237247:P418L;ENSP00000360076:P414L	ENSP00000237247:P418L	P	+	2	0	SGIP1	66920566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.246000	0.58740	2.570000	0.86706	0.455000	0.32223	CCA	SGIP1	-	NULL	ENSG00000118473		0.522	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4	28	0.00	0	C	NM_032291		67147978	67147978	+1	no_errors	ENST00000237247	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	T
SGPL1	8879	genome.wustl.edu	37	10	72576606	72576606	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:72576606G>A	ENST00000373202.3	+	0	197				SGPL1_ENST00000486993.1_3'UTR	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCTGGAAGAGGAAGATGCCTA	0.498																																					Colon(151;1054 2458 6676 40971)	dbGAP											0													377.0	352.0	360.0					10																	72576606		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.-4G>A	10.37:g.72576606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	RNA	SNP	-	NULL	ENST00000373202.3	37	NULL	CCDS31216.1	10																																																																																			SGPL1	-	-	ENSG00000166224		0.498	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	76	0.00	0	G	NM_003901		72576606	72576606	+1	no_errors	ENST00000486993	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	0.968	A
SGPL1	8879	genome.wustl.edu	37	10	72576606	72576606	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:72576606G>A	ENST00000373202.3	+	0	197				SGPL1_ENST00000486993.1_3'UTR	NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1						androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)			large_intestine(4)	4						GCTGGAAGAGGAAGATGCCTA	0.498																																					Colon(151;1054 2458 6676 40971)	dbGAP											0													377.0	352.0	360.0					10																	72576606		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.-4G>A	10.37:g.72576606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	RNA	SNP	-	NULL	ENST00000373202.3	37	NULL	CCDS31216.1	10																																																																																			SGPL1	-	-	ENSG00000166224		0.498	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	50	0.00	0	G	NM_003901		72576606	72576606	+1	no_errors	ENST00000486993	ensembl	human	known	69_37n	rna	32	17.95	7	SNP	0.968	A
SH2B1	25970	genome.wustl.edu	37	16	28884771	28884771	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:28884771C>T	ENST00000322610.8	+	11	2340	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_Silent_p.T667T|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000538342.1_Silent_p.T331T|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000395532.4_Silent_p.T667T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	634					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TATCCAGAACCGACCACCTCC	0.632																																						dbGAP											0													52.0	46.0	48.0					16																	28884771		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1901C>T	16.37:g.28884771C>T	ENSP00000321221:p.Pro634Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.P634L	ENST00000322610.8	37	c.1901	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056392	0.55325	.	.	ENSG00000178188	ENST00000322610	T	0.50548	0.74	5.32	4.33	0.51752	.	1.210760	0.06188	N	0.680738	T	0.35653	0.0939	N	0.14661	0.345	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.01360	-1.1375	10	0.40728	T	0.16	1.2317	12.8885	0.58057	0.0:0.8359:0.1641:0.0	.	634	Q9NRF2	SH2B1_HUMAN	L	634	ENSP00000321221:P634L	ENSP00000321221:P634L	P	+	2	0	SH2B1	28792272	0.999000	0.42202	0.484000	0.27391	0.923000	0.55619	1.696000	0.37773	1.171000	0.42768	0.591000	0.81541	CCG	SH2B1	-	NULL	ENSG00000178188		0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	51	0.00	0	C	NM_015503		28884771	28884771	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.841	T
SH2B1	25970	genome.wustl.edu	37	16	28884771	28884771	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:28884771C>T	ENST00000322610.8	+	11	2340	c.1901C>T	c.(1900-1902)cCg>cTg	p.P634L	SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_Silent_p.T667T|SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000538342.1_Silent_p.T331T|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000395532.4_Silent_p.T667T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	634					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TATCCAGAACCGACCACCTCC	0.632																																						dbGAP											0													52.0	46.0	48.0					16																	28884771		2197	4300	6497	-	-	-	SO:0001583	missense	0			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1901C>T	16.37:g.28884771C>T	ENSP00000321221:p.Pro634Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,prints_SH2,pfscan_SH2	p.P634L	ENST00000322610.8	37	c.1901	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056392	0.55325	.	.	ENSG00000178188	ENST00000322610	T	0.50548	0.74	5.32	4.33	0.51752	.	1.210760	0.06188	N	0.680738	T	0.35653	0.0939	N	0.14661	0.345	0.80722	D	1	B	0.23249	0.082	B	0.14023	0.01	T	0.01360	-1.1375	10	0.40728	T	0.16	1.2317	12.8885	0.58057	0.0:0.8359:0.1641:0.0	.	634	Q9NRF2	SH2B1_HUMAN	L	634	ENSP00000321221:P634L	ENSP00000321221:P634L	P	+	2	0	SH2B1	28792272	0.999000	0.42202	0.484000	0.27391	0.923000	0.55619	1.696000	0.37773	1.171000	0.42768	0.591000	0.81541	CCG	SH2B1	-	NULL	ENSG00000178188		0.632	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	50	0.00	0	C	NM_015503		28884771	28884771	+1	no_errors	ENST00000322610	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.841	T
SH2D3A	10045	genome.wustl.edu	37	19	6754647	6754647	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:6754647C>G	ENST00000245908.6	-	6	1346	c.1077G>C	c.(1075-1077)ttG>ttC	p.L359F	SH2D3A_ENST00000437152.3_Missense_Mutation_p.L237F|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	359					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTTCCAACCTCAAGTGGTGTC	0.587																																						dbGAP											0													75.0	67.0	69.0					19																	6754647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1077G>C	19.37:g.6754647C>G	ENSP00000245908:p.Leu359Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.L359F	ENST00000245908.6	37	c.1077	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020935	0.35606	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.42900	1.98;0.96	4.45	0.736	0.18307	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.217437	0.21398	N	0.075182	T	0.46983	0.1421	L	0.46885	1.475	0.31316	N	0.686579	D;P	0.89917	1.0;0.795	D;B	0.91635	0.999;0.437	T	0.47195	-0.9136	10	0.29301	T	0.29	-1.3327	3.7675	0.08629	0.1748:0.5702:0.1525:0.1024	.	237;359	B4DRS7;Q9BRG2	.;SH23A_HUMAN	F	359;237	ENSP00000245908:L359F;ENSP00000393303:L237F	ENSP00000245908:L359F	L	-	3	2	SH2D3A	6705647	0.990000	0.36364	0.958000	0.39756	0.178000	0.23041	0.196000	0.17176	0.456000	0.26937	0.462000	0.41574	TTG	SH2D3A	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25	ENSG00000125731		0.587	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	56	0.00	0	C	NM_005490		6754647	6754647	-1	no_errors	ENST00000245908	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.983	G
SH2D3A	10045	genome.wustl.edu	37	19	6754647	6754647	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:6754647C>G	ENST00000245908.6	-	6	1346	c.1077G>C	c.(1075-1077)ttG>ttC	p.L359F	SH2D3A_ENST00000437152.3_Missense_Mutation_p.L237F|SH2D3A_ENST00000599563.1_5'Flank	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	359					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GTTCCAACCTCAAGTGGTGTC	0.587																																						dbGAP											0													75.0	67.0	69.0					19																	6754647		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.1077G>C	19.37:g.6754647C>G	ENSP00000245908:p.Leu359Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.L359F	ENST00000245908.6	37	c.1077	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	C	12.71	2.020935	0.35606	.	.	ENSG00000125731	ENST00000245908;ENST00000437152	T;T	0.42900	1.98;0.96	4.45	0.736	0.18307	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.217437	0.21398	N	0.075182	T	0.46983	0.1421	L	0.46885	1.475	0.31316	N	0.686579	D;P	0.89917	1.0;0.795	D;B	0.91635	0.999;0.437	T	0.47195	-0.9136	10	0.29301	T	0.29	-1.3327	3.7675	0.08629	0.1748:0.5702:0.1525:0.1024	.	237;359	B4DRS7;Q9BRG2	.;SH23A_HUMAN	F	359;237	ENSP00000245908:L359F;ENSP00000393303:L237F	ENSP00000245908:L359F	L	-	3	2	SH2D3A	6705647	0.990000	0.36364	0.958000	0.39756	0.178000	0.23041	0.196000	0.17176	0.456000	0.26937	0.462000	0.41574	TTG	SH2D3A	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25	ENSG00000125731		0.587	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	41	0.00	0	C	NM_005490		6754647	6754647	-1	no_errors	ENST00000245908	ensembl	human	known	69_37n	missense	24	36.84	14	SNP	0.983	G
SLC12A8	84561	genome.wustl.edu	37	3	124807179	124807179	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:124807179T>A	ENST00000393469.4	-	12	2006	c.1957A>T	c.(1957-1959)Agg>Tgg	p.R653W	SLC12A8_ENST00000469902.1_Missense_Mutation_p.R653W|SLC12A8_ENST00000423114.2_Missense_Mutation_p.R682W|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R454W|SLC12A8_ENST00000465475.1_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	653					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						AAGAGAGACCTCATCCACCGG	0.498																																						dbGAP											0													83.0	89.0	87.0					3																	124807179		1978	4147	6125	-	-	-	SO:0001583	missense	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1957A>T	3.37:g.124807179T>A	ENSP00000377112:p.Arg653Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.R682W	ENST00000393469.4	37	c.2044	CCDS43143.1	3	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856745	0.71834	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.90324	-2.18;-2.63;-2.65;-2.63	4.99	2.51	0.30379	.	.	.	.	.	D	0.90964	0.7159	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.992;0.992;0.999	D;P;D	0.69654	0.925;0.844;0.965	D	0.88199	0.2882	9	0.87932	D	0	.	5.4743	0.16688	0.1748:0.0:0.1828:0.6425	.	682;653;454	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	W	454;653;682;653	ENSP00000415713:R454W;ENSP00000377112:R653W;ENSP00000404243:R682W;ENSP00000418783:R653W	ENSP00000377112:R653W	R	-	1	2	SLC12A8	126289869	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	1.731000	0.38135	0.338000	0.23692	0.460000	0.39030	AGG	SLC12A8	-	NULL	ENSG00000221955		0.498	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	30	0.00	0	T	NM_024628		124807179	124807179	-1	no_errors	ENST00000423114	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.998	A
SLC12A8	84561	genome.wustl.edu	37	3	124807179	124807179	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:124807179T>A	ENST00000393469.4	-	12	2006	c.1957A>T	c.(1957-1959)Agg>Tgg	p.R653W	SLC12A8_ENST00000469902.1_Missense_Mutation_p.R653W|SLC12A8_ENST00000423114.2_Missense_Mutation_p.R682W|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000430155.2_Missense_Mutation_p.R454W|SLC12A8_ENST00000465475.1_Intron	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	653					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(12)	16						AAGAGAGACCTCATCCACCGG	0.498																																						dbGAP											0													83.0	89.0	87.0					3																	124807179		1978	4147	6125	-	-	-	SO:0001583	missense	0				CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.1957A>T	3.37:g.124807179T>A	ENSP00000377112:p.Arg653Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Missense_Mutation	SNP	pfam_AA-permease_dom,superfamily_ABC_transptrTM_dom_typ1	p.R682W	ENST00000393469.4	37	c.2044	CCDS43143.1	3	.	.	.	.	.	.	.	.	.	.	T	19.59	3.856745	0.71834	.	.	ENSG00000221955	ENST00000430155;ENST00000393469;ENST00000423114;ENST00000469902	D;D;D;D	0.90324	-2.18;-2.63;-2.65;-2.63	4.99	2.51	0.30379	.	.	.	.	.	D	0.90964	0.7159	L	0.43152	1.355	0.80722	D	1	D;D;D	0.76494	0.992;0.992;0.999	D;P;D	0.69654	0.925;0.844;0.965	D	0.88199	0.2882	9	0.87932	D	0	.	5.4743	0.16688	0.1748:0.0:0.1828:0.6425	.	682;653;454	A0AV02-2;A0AV02;A0AV02-3	.;S12A8_HUMAN;.	W	454;653;682;653	ENSP00000415713:R454W;ENSP00000377112:R653W;ENSP00000404243:R682W;ENSP00000418783:R653W	ENSP00000377112:R653W	R	-	1	2	SLC12A8	126289869	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	1.731000	0.38135	0.338000	0.23692	0.460000	0.39030	AGG	SLC12A8	-	NULL	ENSG00000221955		0.498	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A8	HGNC	protein_coding	OTTHUMT00000355711.4	30	0.00	0	T	NM_024628		124807179	124807179	-1	no_errors	ENST00000423114	ensembl	human	known	69_37n	missense	14	22.22	4	SNP	0.998	A
SLC39A12	221074	genome.wustl.edu	37	10	18250621	18250621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:18250621C>T	ENST00000377369.2	+	3	646	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.Q125*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.Q125*|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	125					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTATTCATCAGGAAGAGAT	0.378																																						dbGAP											0													93.0	99.0	97.0					10																	18250621		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.373C>T	10.37:g.18250621C>T	ENSP00000366586:p.Gln125*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	pfam_ZIP	p.Q125*	ENST00000377369.2	37	c.373	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.143559	0.98092	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	.	.	.	5.43	3.54	0.40534	.	0.970769	0.08534	N	0.931528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.5396	9.8764	0.41207	0.1403:0.7875:0.0:0.0722	.	.	.	.	X	125;125;125;45	.	ENSP00000366586:Q125X	Q	+	1	0	SLC39A12	18290627	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	2.796000	0.47869	1.258000	0.44101	0.650000	0.86243	CAG	SLC39A12	-	NULL	ENSG00000148482		0.378	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		39	0.00	0	C	NM_152725		18250621	18250621	+1	no_errors	ENST00000377369	ensembl	human	known	69_37n	nonsense	27	22.86	8	SNP	0.998	T
SLC39A12	221074	genome.wustl.edu	37	10	18250621	18250621	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:18250621C>T	ENST00000377369.2	+	3	646	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.Q125*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.Q125*|SLC39A12_ENST00000539911.1_5'UTR	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	125					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATTATTCATCAGGAAGAGAT	0.378																																						dbGAP											0													93.0	99.0	97.0					10																	18250621		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.373C>T	10.37:g.18250621C>T	ENSP00000366586:p.Gln125*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Nonsense_Mutation	SNP	pfam_ZIP	p.Q125*	ENST00000377369.2	37	c.373	CCDS44362.1	10	.	.	.	.	.	.	.	.	.	.	C	38	7.143559	0.98092	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	.	.	.	5.43	3.54	0.40534	.	0.970769	0.08534	N	0.931528	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-0.5396	9.8764	0.41207	0.1403:0.7875:0.0:0.0722	.	.	.	.	X	125;125;125;45	.	ENSP00000366586:Q125X	Q	+	1	0	SLC39A12	18290627	0.992000	0.36948	0.998000	0.56505	0.887000	0.51463	2.796000	0.47869	1.258000	0.44101	0.650000	0.86243	CAG	SLC39A12	-	NULL	ENSG00000148482		0.378	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A12	HGNC	protein_coding		39	0.00	0	C	NM_152725		18250621	18250621	+1	no_errors	ENST00000377369	ensembl	human	known	69_37n	nonsense	27	22.86	8	SNP	0.998	T
SLC39A7	7922	genome.wustl.edu	37	6	33169119	33169119	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:33169119G>A	ENST00000374677.3	+	1	470	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Missense_Mutation_p.D33N	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	33	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTCATGACGACCTGCACGA	0.647																																						dbGAP											0													62.0	70.0	67.0					6																	33169119		2114	4235	6349	-	-	-	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.97G>A	6.37:g.33169119G>A	ENSP00000363809:p.Asp33Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.D33N	ENST00000374677.3	37	c.97	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829370	0.50845	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.59906	0.23;0.23	4.3	4.3	0.51218	.	0.795685	0.11695	N	0.538527	T	0.31451	0.0797	N	0.24115	0.695	0.28909	N	0.892841	D	0.61697	0.99	B	0.43508	0.422	T	0.13361	-1.0512	10	0.66056	D	0.02	-4.2727	12.2079	0.54363	0.0:0.0:1.0:0.0	.	33	Q92504	S39A7_HUMAN	N	33	ENSP00000363807:D33N;ENSP00000363809:D33N	ENSP00000363807:D33N	D	+	1	0	SLC39A7	33277097	1.000000	0.71417	0.983000	0.44433	0.764000	0.43329	1.943000	0.40253	2.253000	0.74438	0.289000	0.19496	GAC	SLC39A7	-	NULL	ENSG00000112473		0.647	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	80	0.00	0	G	NM_006979		33169119	33169119	+1	no_errors	ENST00000374675	ensembl	human	known	69_37n	missense	66	23.26	20	SNP	0.982	A
SLC39A7	7922	genome.wustl.edu	37	6	33169119	33169119	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:33169119G>A	ENST00000374677.3	+	1	470	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|RNY4P10_ENST00000365571.1_RNA|SLC39A7_ENST00000374675.3_Missense_Mutation_p.D33N	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	33	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTCATGACGACCTGCACGA	0.647																																						dbGAP											0													62.0	70.0	67.0					6																	33169119		2114	4235	6349	-	-	-	SO:0001583	missense	0			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.97G>A	6.37:g.33169119G>A	ENSP00000363809:p.Asp33Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.D33N	ENST00000374677.3	37	c.97	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	15.42	2.829370	0.50845	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.59906	0.23;0.23	4.3	4.3	0.51218	.	0.795685	0.11695	N	0.538527	T	0.31451	0.0797	N	0.24115	0.695	0.28909	N	0.892841	D	0.61697	0.99	B	0.43508	0.422	T	0.13361	-1.0512	10	0.66056	D	0.02	-4.2727	12.2079	0.54363	0.0:0.0:1.0:0.0	.	33	Q92504	S39A7_HUMAN	N	33	ENSP00000363807:D33N;ENSP00000363809:D33N	ENSP00000363807:D33N	D	+	1	0	SLC39A7	33277097	1.000000	0.71417	0.983000	0.44433	0.764000	0.43329	1.943000	0.40253	2.253000	0.74438	0.289000	0.19496	GAC	SLC39A7	-	NULL	ENSG00000112473		0.647	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	51	0.00	0	G	NM_006979		33169119	33169119	+1	no_errors	ENST00000374675	ensembl	human	known	69_37n	missense	66	23.26	20	SNP	0.982	A
SLC43A2	124935	genome.wustl.edu	37	17	1516496	1516496	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:1516496G>A	ENST00000301335.5	-	5	582	c.494C>T	c.(493-495)tCa>tTa	p.S165L	SLC43A2_ENST00000382147.4_Missense_Mutation_p.S165L|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S165L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	165					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CACTGTTAATGAGGTGAAGGT	0.458																																						dbGAP											0													81.0	70.0	74.0					17																	1516496		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.494C>T	17.37:g.1516496G>A	ENSP00000301335:p.Ser165Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165L	ENST00000301335.5	37	c.494	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541265	0.85917	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.48201	0.82;0.82	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.131262	0.53938	D	0.000056	T	0.57946	0.2088	M	0.65498	2.005	0.80722	D	1	P;P;D	0.55172	0.952;0.89;0.97	P;P;P	0.53224	0.591;0.596;0.721	T	0.52094	-0.8621	10	0.19147	T	0.46	-21.2161	17.6719	0.88221	0.0:0.0:1.0:0.0	.	165;165;165	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	L	165	ENSP00000301335:S165L;ENSP00000371582:S165L	ENSP00000301335:S165L	S	-	2	0	SLC43A2	1463246	1.000000	0.71417	0.962000	0.40283	0.597000	0.36814	9.042000	0.93793	2.737000	0.93849	0.563000	0.77884	TCA	SLC43A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.458	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4	32	0.00	0	G	NM_152346		1516496	1516496	-1	no_errors	ENST00000382147	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	A
SLC43A2	124935	genome.wustl.edu	37	17	1516496	1516496	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:1516496G>A	ENST00000301335.5	-	5	582	c.494C>T	c.(493-495)tCa>tTa	p.S165L	SLC43A2_ENST00000382147.4_Missense_Mutation_p.S165L|snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Missense_Mutation_p.S165L	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	165					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CACTGTTAATGAGGTGAAGGT	0.458																																						dbGAP											0													81.0	70.0	74.0					17																	1516496		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.494C>T	17.37:g.1516496G>A	ENSP00000301335:p.Ser165Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S165L	ENST00000301335.5	37	c.494	CCDS11006.1	17	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541265	0.85917	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	T;T	0.48201	0.82;0.82	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.131262	0.53938	D	0.000056	T	0.57946	0.2088	M	0.65498	2.005	0.80722	D	1	P;P;D	0.55172	0.952;0.89;0.97	P;P;P	0.53224	0.591;0.596;0.721	T	0.52094	-0.8621	10	0.19147	T	0.46	-21.2161	17.6719	0.88221	0.0:0.0:1.0:0.0	.	165;165;165	Q8N370-2;Q8N370;Q8N370-3	.;LAT4_HUMAN;.	L	165	ENSP00000301335:S165L;ENSP00000371582:S165L	ENSP00000301335:S165L	S	-	2	0	SLC43A2	1463246	1.000000	0.71417	0.962000	0.40283	0.597000	0.36814	9.042000	0.93793	2.737000	0.93849	0.563000	0.77884	TCA	SLC43A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000167703		0.458	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	SLC43A2	HGNC	protein_coding	OTTHUMT00000206717.4	23	0.00	0	G	NM_152346		1516496	1516496	-1	no_errors	ENST00000382147	ensembl	human	known	69_37n	missense	18	18.18	4	SNP	1.000	A
SLC46A3	283537	genome.wustl.edu	37	13	29275113	29275113	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:29275113C>T	ENST00000266943.6	-	0	2276				SLC46A3_ENST00000380814.4_Intron|RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATTACCAAGTATAGGT	0.313																																						dbGAP											0													66.0	57.0	60.0					13																	29275113		692	1586	2278	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*521G>A	13.37:g.29275113C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	RNA	SNP	-	NULL	ENST00000266943.6	37	NULL	CCDS9332.1	13																																																																																			SLC46A3	-	-	ENSG00000139508		0.313	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	43	0.00	0	C	NM_181785		29275113	29275113	-1	no_errors	ENST00000475385	ensembl	human	known	69_37n	rna	25	26.47	9	SNP	0.028	T
SLC46A3	283537	genome.wustl.edu	37	13	29275113	29275113	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:29275113C>T	ENST00000266943.6	-	0	2276				SLC46A3_ENST00000380814.4_Intron|RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATTACCAAGTATAGGT	0.313																																						dbGAP											0													66.0	57.0	60.0					13																	29275113		692	1586	2278	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*521G>A	13.37:g.29275113C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	RNA	SNP	-	NULL	ENST00000266943.6	37	NULL	CCDS9332.1	13																																																																																			SLC46A3	-	-	ENSG00000139508		0.313	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	47	0.00	0	C	NM_181785		29275113	29275113	-1	no_errors	ENST00000475385	ensembl	human	known	69_37n	rna	25	26.47	9	SNP	0.028	T
SLC6A15	55117	genome.wustl.edu	37	12	85277802	85277802	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:85277802C>T	ENST00000266682.5	-	5	1133	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SLC6A15_ENST00000450363.3_Missense_Mutation_p.E198K|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.E91K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	198					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAACTTTGTTCACATTCTGGT	0.373																																						dbGAP											0													77.0	75.0	76.0					12																	85277802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.592G>A	12.37:g.85277802C>T	ENSP00000266682:p.Glu198Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	p.E198K	ENST00000266682.5	37	c.592	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730070	0.69074	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000450363	T;T;T	0.75154	-0.91;-0.91;-0.91	6.02	6.02	0.97574	.	0.045326	0.85682	D	0.000000	T	0.73289	0.3568	L	0.39633	1.23	0.58432	D	0.999996	B;P	0.38148	0.062;0.62	B;B	0.43658	0.099;0.426	T	0.66268	-0.5966	10	0.19147	T	0.46	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	198;198	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	K	198;91;198	ENSP00000266682:E198K;ENSP00000450145:E91K;ENSP00000390706:E198K	ENSP00000266682:E198K	E	-	1	0	SLC6A15	83801933	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GAA	SLC6A15	-	pfam_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	ENSG00000072041		0.373	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	38	0.00	0	C	NM_018057, NM_182767		85277802	85277802	-1	no_errors	ENST00000266682	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	T
SLC6A15	55117	genome.wustl.edu	37	12	85277802	85277802	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:85277802C>T	ENST00000266682.5	-	5	1133	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	SLC6A15_ENST00000450363.3_Missense_Mutation_p.E198K|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.E91K	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	198					amino acid transport (GO:0006865)|ion transport (GO:0006811)|leucine transport (GO:0015820)|neurotransmitter transport (GO:0006836)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)|proline:sodium symporter activity (GO:0005298)			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAACTTTGTTCACATTCTGGT	0.373																																						dbGAP											0													77.0	75.0	76.0					12																	85277802		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265577	CCDS9026.1, CCDS9027.1, CCDS53816.1	12q21.31	2013-07-15	2008-09-02		ENSG00000072041	ENSG00000072041		"""Solute carriers"""	13621	protein-coding gene	gene with protein product	"""homolog of rat orphan transporter v7-3"", ""sodium/chloride dependent neurotransmitter transporter Homo sapiens orphan neurotransmitter transporter NTT7"""	607971	"""solute carrier family 6 (neurotransmitter transporter), member 15"""			10471414, 11112352, 16185194	Standard	NM_182767		Approved	hv7-3, NTT73, FLJ10316, V7-3, SBAT1	uc001szv.4	Q9H2J7	OTTHUMG00000169742	ENST00000266682.5:c.592G>A	12.37:g.85277802C>T	ENSP00000266682:p.Glu198Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K592|B7Z2P7|E7ESJ5|Q9H9F5	Missense_Mutation	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	p.E198K	ENST00000266682.5	37	c.592	CCDS9026.1	12	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730070	0.69074	.	.	ENSG00000072041	ENST00000266682;ENST00000552192;ENST00000450363	T;T;T	0.75154	-0.91;-0.91;-0.91	6.02	6.02	0.97574	.	0.045326	0.85682	D	0.000000	T	0.73289	0.3568	L	0.39633	1.23	0.58432	D	0.999996	B;P	0.38148	0.062;0.62	B;B	0.43658	0.099;0.426	T	0.66268	-0.5966	10	0.19147	T	0.46	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	198;198	Q9H9F5;Q9H2J7	.;S6A15_HUMAN	K	198;91;198	ENSP00000266682:E198K;ENSP00000450145:E91K;ENSP00000390706:E198K	ENSP00000266682:E198K	E	-	1	0	SLC6A15	83801933	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	GAA	SLC6A15	-	pfam_Na/ntran_symport,prints_Na/ntran_symport_orphan,pfscan_Na/ntran_symport	ENSG00000072041		0.373	SLC6A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A15	HGNC	protein_coding	OTTHUMT00000405678.1	39	0.00	0	C	NM_018057, NM_182767		85277802	85277802	-1	no_errors	ENST00000266682	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	T
SLC6A9	6536	genome.wustl.edu	37	1	44466611	44466611	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:44466611G>A	ENST00000360584.2	-	11	1846				SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Silent_p.L484L|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000357730.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGGGAGGCCGGAGGCTCGAGT	0.622																																						dbGAP											0													68.0	77.0	74.0					1																	44466611		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1654+16C>T	1.37:g.44466611G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1,pfscan_Na/ntran_symport	p.L484	ENST00000360584.2	37	c.1452	CCDS41317.1	1																																																																																			SLC6A9	-	pfscan_Na/ntran_symport	ENSG00000196517		0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	48	0.00	0	G	NM_201649		44466611	44466611	-1	no_errors	ENST00000372306	ensembl	human	putative	69_37n	silent	16	46.67	14	SNP	0.001	A
SLC6A9	6536	genome.wustl.edu	37	1	44466611	44466611	+	Intron	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:44466611G>A	ENST00000360584.2	-	11	1846				SLC6A9_ENST00000372307.3_Intron|SLC6A9_ENST00000372306.3_Silent_p.L484L|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000372310.3_Intron|SLC6A9_ENST00000357730.2_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9						transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CGGGAGGCCGGAGGCTCGAGT	0.622																																						dbGAP											0													68.0	77.0	74.0					1																	44466611		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1654+16C>T	1.37:g.44466611G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1,pfscan_Na/ntran_symport	p.L484	ENST00000360584.2	37	c.1452	CCDS41317.1	1																																																																																			SLC6A9	-	pfscan_Na/ntran_symport	ENSG00000196517		0.622	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	38	0.00	0	G	NM_201649		44466611	44466611	-1	no_errors	ENST00000372306	ensembl	human	putative	69_37n	silent	16	46.67	14	SNP	0.001	A
SLC7A6OS	84138	genome.wustl.edu	37	16	68336329	68336329	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:68336329C>G	ENST00000263997.6	-	4	772	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	252					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCTGGGTACTCATTGCGCCAG	0.512																																						dbGAP											0													337.0	257.0	284.0					16																	68336329		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.754G>C	16.37:g.68336329C>G	ENSP00000263997:p.Glu252Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.E252Q	ENST00000263997.6	37	c.754	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154403	0.78114	.	.	ENSG00000103061	ENST00000263997	T	0.21031	2.03	5.76	5.76	0.90799	.	0.044602	0.85682	D	0.000000	T	0.47783	0.1464	M	0.71581	2.175	0.47476	D	0.999433	D	0.89917	1.0	D	0.76575	0.988	T	0.41998	-0.9477	10	0.72032	D	0.01	-17.2744	17.4698	0.87642	0.0:1.0:0.0:0.0	.	252	Q96CW6	S7A6O_HUMAN	Q	252	ENSP00000263997:E252Q	ENSP00000263997:E252Q	E	-	1	0	SLC7A6OS	66893830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.995000	0.70631	2.713000	0.92767	0.655000	0.94253	GAG	SLC7A6OS	-	NULL	ENSG00000103061		0.512	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	141	0.00	0	C	NM_032178		68336329	68336329	-1	no_errors	ENST00000263997	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	G
SLC7A6OS	84138	genome.wustl.edu	37	16	68336329	68336329	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:68336329C>G	ENST00000263997.6	-	4	772	c.754G>C	c.(754-756)Gag>Cag	p.E252Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	252					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		TCTGGGTACTCATTGCGCCAG	0.512																																						dbGAP											0													337.0	257.0	284.0					16																	68336329		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.754G>C	16.37:g.68336329C>G	ENSP00000263997:p.Glu252Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.E252Q	ENST00000263997.6	37	c.754	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	C	21.5	4.154403	0.78114	.	.	ENSG00000103061	ENST00000263997	T	0.21031	2.03	5.76	5.76	0.90799	.	0.044602	0.85682	D	0.000000	T	0.47783	0.1464	M	0.71581	2.175	0.47476	D	0.999433	D	0.89917	1.0	D	0.76575	0.988	T	0.41998	-0.9477	10	0.72032	D	0.01	-17.2744	17.4698	0.87642	0.0:1.0:0.0:0.0	.	252	Q96CW6	S7A6O_HUMAN	Q	252	ENSP00000263997:E252Q	ENSP00000263997:E252Q	E	-	1	0	SLC7A6OS	66893830	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.995000	0.70631	2.713000	0.92767	0.655000	0.94253	GAG	SLC7A6OS	-	NULL	ENSG00000103061		0.512	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	91	0.00	0	C	NM_032178		68336329	68336329	-1	no_errors	ENST00000263997	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	G
SLC9C2	284525	genome.wustl.edu	37	1	173472458	173472458	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:173472458G>C	ENST00000367714.3	-	27	3740	c.3318C>G	c.(3316-3318)gtC>gtG	p.V1106V	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1106					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGACCGTGTTGACTGAGGCTA	0.299																																						dbGAP											0													113.0	103.0	106.0					1																	173472458		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.3318C>G	1.37:g.173472458G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V1106	ENST00000367714.3	37	c.3318	CCDS1308.1	1																																																																																			SLC9C2	-	NULL	ENSG00000162753		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	83	0.00	0	G	NM_178527		173472458	173472458	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	silent	92	20.69	24	SNP	0.042	C
SLC9C2	284525	genome.wustl.edu	37	1	173472458	173472458	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:173472458G>C	ENST00000367714.3	-	27	3740	c.3318C>G	c.(3316-3318)gtC>gtG	p.V1106V	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	1106					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AGACCGTGTTGACTGAGGCTA	0.299																																						dbGAP											0													113.0	103.0	106.0					1																	173472458		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.3318C>G	1.37:g.173472458G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V1106	ENST00000367714.3	37	c.3318	CCDS1308.1	1																																																																																			SLC9C2	-	NULL	ENSG00000162753		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	84	0.00	0	G	NM_178527		173472458	173472458	-1	no_errors	ENST00000367714	ensembl	human	known	69_37n	silent	92	20.69	24	SNP	0.042	C
SMO	6608	genome.wustl.edu	37	7	128852289	128852289	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:128852289C>T	ENST00000249373.3	+	12	2641	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	787					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ACTCGGACTTCTGAGCCTGCA	0.592			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													40.0	44.0	43.0					7																	128852289		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2361C>T	7.37:g.128852289C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K5	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F787	ENST00000249373.3	37	c.2361	CCDS5811.1	7																																																																																			SMO	-	NULL	ENSG00000128602		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	22	0.00	0	C	NM_005631		128852289	128852289	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	1.000	T
SMO	6608	genome.wustl.edu	37	7	128852289	128852289	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:128852289C>T	ENST00000249373.3	+	12	2641	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F	RP11-286H14.8_ENST00000466717.1_RNA	NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled class receptor	787					adenohypophysis development (GO:0021984)|anterior/posterior pattern specification (GO:0009952)|atrial septum morphogenesis (GO:0060413)|axon extension involved in axon guidance (GO:0048846)|canonical Wnt signaling pathway (GO:0060070)|cardioblast differentiation (GO:0010002)|cell fate specification (GO:0001708)|cellular response to cholesterol (GO:0071397)|central nervous system neuron differentiation (GO:0021953)|cerebellar cortex morphogenesis (GO:0021696)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|detection of cell density by contact stimulus involved in contact inhibition (GO:0060248)|determination of left/right asymmetry in lateral mesoderm (GO:0003140)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|epithelial-mesenchymal cell signaling (GO:0060684)|exocrine pancreas development (GO:0031017)|facial nerve development (GO:0021561)|floor plate formation (GO:0021508)|forebrain morphogenesis (GO:0048853)|gonad development (GO:0008406)|hair follicle morphogenesis (GO:0031069)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal to epithelial transition involved in metanephric renal vesicle formation (GO:0072285)|midgut development (GO:0007494)|multicellular organism growth (GO:0035264)|muscle cell fate commitment (GO:0042693)|myoblast migration (GO:0051451)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of gene expression (GO:0010629)|negative regulation of hair follicle development (GO:0051799)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neuron fate commitment (GO:0048663)|neuron projection regeneration (GO:0031102)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|otolith morphogenesis (GO:0032474)|pancreas morphogenesis (GO:0061113)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of hh target transcription factor activity (GO:0007228)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of heart morphogenesis (GO:2000826)|regulation of stem cell maintenance (GO:2000036)|renal system development (GO:0072001)|semicircular canal morphogenesis (GO:0048752)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021910)|somite development (GO:0061053)|spermatogenesis (GO:0007283)|thalamus development (GO:0021794)|type B pancreatic cell development (GO:0003323)|vasculogenesis (GO:0001570)|ventral midline determination (GO:0007371)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	drug binding (GO:0008144)|G-protein coupled receptor activity (GO:0004930)|patched binding (GO:0005113)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64					Fluocinonide(DB01047)|Vismodegib(DB08828)	ACTCGGACTTCTGAGCCTGCA	0.592			Mis		skin basal cell																																	dbGAP		Dom	yes		7	7q31-q32	6608	smoothened homolog (Drosophila)		E	0													40.0	44.0	43.0					7																	128852289		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			U84401	CCDS5811.1	7q32.1	2014-01-29	2014-01-29	2003-01-17	ENSG00000128602	ENSG00000128602		"""GPCR / Class F : Frizzled receptors"""	11119	protein-coding gene	gene with protein product	"""frizzled family member 11"""	601500	"""smoothened (Drosophila) homolog"", ""smoothened homolog (Drosophila)"", ""smoothened, seven transmembrane spanning receptor"", ""smoothened, frizzled family receptor"""	SMOH		9628830	Standard	NM_005631		Approved	FZD11	uc003vor.3	Q99835	OTTHUMG00000158421	ENST00000249373.3:c.2361C>T	7.37:g.128852289C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1K5	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.F787	ENST00000249373.3	37	c.2361	CCDS5811.1	7																																																																																			SMO	-	NULL	ENSG00000128602		0.592	SMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMO	HGNC	protein_coding	OTTHUMT00000350986.1	13	0.00	0	C	NM_005631		128852289	128852289	+1	no_errors	ENST00000249373	ensembl	human	known	69_37n	silent	7	41.67	5	SNP	1.000	T
SMTNL1	219537	genome.wustl.edu	37	11	57314114	57314114	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:57314114C>T	ENST00000399154.2	+	7	1218	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	SMTNL1_ENST00000527972.1_Silent_p.F443F|SMTNL1_ENST00000457912.1_Silent_p.F461F			A8MU46	SMTL1_HUMAN	smoothelin-like 1	406	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CCCTGGCCTTCTCCACAGCAG	0.587																																						dbGAP											0													36.0	38.0	37.0					11																	57314114		2177	4281	6458	-	-	-	SO:0001819	synonymous_variant	0			BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.1218C>T	11.37:g.57314114C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.F461	ENST00000399154.2	37	c.1383		11																																																																																			SMTNL1	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000214872		0.587	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	SMTNL1	HGNC	protein_coding		42	0.00	0	C	XM_166203		57314114	57314114	+1	no_errors	ENST00000457912	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.984	T
SNAPIN	23557	genome.wustl.edu	37	1	153631470	153631470	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:153631470G>C	ENST00000368685.5	+	1	233				SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACTGATTCGAGGCGGGGAG	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.143+108G>C	1.37:g.153631470G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV56|Q5SXU8	RNA	SNP	-	NULL	ENST00000368685.5	37	NULL	CCDS1049.1	1																																																																																			SNAPIN	-	-	ENSG00000143553		0.597	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPIN	HGNC	protein_coding	OTTHUMT00000090036.1	66	0.00	0	G	NM_012437		153631470	153631470	+1	no_errors	ENST00000474959	ensembl	human	known	69_37n	rna	36	25.00	12	SNP	0.000	C
SNAPIN	23557	genome.wustl.edu	37	1	153631470	153631470	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:153631470G>C	ENST00000368685.5	+	1	233				SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|negative regulation of neuron projection development (GO:0010977)|neuron projection development (GO:0031175)|neurotransmitter secretion (GO:0007269)|positive regulation of late endosome to lysosome transport (GO:1902824)|regulation of protein binding (GO:0043393)|synaptic vesicle exocytosis (GO:0016079)|synaptic vesicle fusion to presynaptic membrane (GO:0031629)|synaptic vesicle maturation (GO:0016188)|synaptic vesicle transport (GO:0048489)|terminal button organization (GO:0072553)|viral process (GO:0016032)	BLOC-1 complex (GO:0031083)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAACTGATTCGAGGCGGGGAG	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF086837	CCDS1049.1	1q22	2013-09-27		2007-11-14	ENSG00000143553	ENSG00000143553		"""Biogenesis of lysosomal organelles complex-1 subunits"""	17145	protein-coding gene	gene with protein product	"""snapin"", ""SNAP-25-binding protein"", ""biogenesis of lysosomal organelles complex-1, subunit 7"""	607007		SNAPAP		10195194, 12659861	Standard	NM_012437		Approved	BLOC1S7	uc001fcq.4	O95295	OTTHUMG00000037086	ENST00000368685.5:c.143+108G>C	1.37:g.153631470G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DV56|Q5SXU8	RNA	SNP	-	NULL	ENST00000368685.5	37	NULL	CCDS1049.1	1																																																																																			SNAPIN	-	-	ENSG00000143553		0.597	SNAPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPIN	HGNC	protein_coding	OTTHUMT00000090036.1	62	0.00	0	G	NM_012437		153631470	153631470	+1	no_errors	ENST00000474959	ensembl	human	known	69_37n	rna	36	25.00	12	SNP	0.000	C
SNAP47	116841	genome.wustl.edu	37	1	227968278	227968278	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:227968278G>C	ENST00000366759.4	+	5	1713	c.1299G>C	c.(1297-1299)gaG>gaC	p.E433D	SNAP47_ENST00000366760.1_Missense_Mutation_p.E191D	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	433	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTGAGCTGGAGAGACAAGACG	0.592																																						dbGAP											0													132.0	110.0	118.0					1																	227968278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1299G>C	1.37:g.227968278G>C	ENSP00000355721:p.Glu433Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.E433D	ENST00000366759.4	37	c.1299	CCDS1562.1	1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314448	0.23908	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.50001	0.76;2.11	4.67	1.75	0.24633	Target SNARE coiled-coil domain (1);	0.055880	0.64402	D	0.000001	T	0.58163	0.2103	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	T	0.55075	-0.8197	10	0.18710	T	0.47	-19.65	7.8802	0.29618	0.2835:0.0:0.7165:0.0	.	433	Q5SQN1	SNP47_HUMAN	D	191;433	ENSP00000355722:E191D;ENSP00000355721:E433D	ENSP00000355721:E433D	E	+	3	2	SNAP47	226034901	1.000000	0.71417	0.974000	0.42286	0.005000	0.04900	0.478000	0.22212	0.198000	0.20407	-1.036000	0.02392	GAG	SNAP47	-	pfscan_T_SNARE_dom	ENSG00000143740		0.592	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1	114	0.00	0	G	NM_053052		227968278	227968278	+1	no_errors	ENST00000366759	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	0.998	C
SNAP47	116841	genome.wustl.edu	37	1	227968278	227968278	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:227968278G>C	ENST00000366759.4	+	5	1713	c.1299G>C	c.(1297-1299)gaG>gaC	p.E433D	SNAP47_ENST00000366760.1_Missense_Mutation_p.E191D	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	433	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTGAGCTGGAGAGACAAGACG	0.592																																						dbGAP											0													132.0	110.0	118.0					1																	227968278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1299G>C	1.37:g.227968278G>C	ENSP00000355721:p.Glu433Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	pfscan_T_SNARE_dom	p.E433D	ENST00000366759.4	37	c.1299	CCDS1562.1	1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.314448	0.23908	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.50001	0.76;2.11	4.67	1.75	0.24633	Target SNARE coiled-coil domain (1);	0.055880	0.64402	D	0.000001	T	0.58163	0.2103	M	0.76574	2.34	0.80722	D	1	D	0.64830	0.994	D	0.63488	0.915	T	0.55075	-0.8197	10	0.18710	T	0.47	-19.65	7.8802	0.29618	0.2835:0.0:0.7165:0.0	.	433	Q5SQN1	SNP47_HUMAN	D	191;433	ENSP00000355722:E191D;ENSP00000355721:E433D	ENSP00000355721:E433D	E	+	3	2	SNAP47	226034901	1.000000	0.71417	0.974000	0.42286	0.005000	0.04900	0.478000	0.22212	0.198000	0.20407	-1.036000	0.02392	GAG	SNAP47	-	pfscan_T_SNARE_dom	ENSG00000143740		0.592	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091961.1	60	0.00	0	G	NM_053052		227968278	227968278	+1	no_errors	ENST00000366759	ensembl	human	known	69_37n	missense	67	14.10	11	SNP	0.998	C
SNRNP200	23020	genome.wustl.edu	37	2	96959226	96959226	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:96959226C>T	ENST00000323853.5	-	15	1941	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	622	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTCTGTCATCGTGGAGAAGA	0.473																																						dbGAP											0													127.0	129.0	128.0					2																	96959226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1864G>A	2.37:g.96959226C>T	ENSP00000317123:p.Asp622Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D622N	ENST00000323853.5	37	c.1864	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.718256	0.96839	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.16457	2.34	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.49960	-0.8883	10	0.87932	D	0	-18.7724	19.6509	0.95805	0.0:1.0:0.0:0.0	.	622	O75643	U520_HUMAN	N	622;297	ENSP00000317123:D622N	ENSP00000317123:D622N	D	-	1	0	SNRNP200	96322953	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.300000	0.78841	2.941000	0.99782	0.655000	0.94253	GAT	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.473	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	63	0.00	0	C	NM_014014		96959226	96959226	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	T
SNRNP200	23020	genome.wustl.edu	37	2	96959226	96959226	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:96959226C>T	ENST00000323853.5	-	15	1941	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	622	Helicase ATP-binding 1. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTCTGTCATCGTGGAGAAGA	0.473																																						dbGAP											0													127.0	129.0	128.0					2																	96959226		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL831994	CCDS2020.1	2q11.2	2013-05-13	2008-10-29	2008-10-29	ENSG00000144028	ENSG00000144028			30859	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 200 KD"""	601664	"""activating signal cointegrator 1 complex subunit 3-like 1"", ""retinitis pigmentosa 33 (autosomal dominant)"""	ASCC3L1, RP33		9872452, 8670905, 9774689, 9539711, 16612614, 19878916	Standard	NM_014014		Approved	U5-200KD, HELIC2, KIAA0788, BRR2	uc002svu.3	O75643	OTTHUMG00000130455	ENST00000323853.5:c.1864G>A	2.37:g.96959226C>T	ENSP00000317123:p.Asp622Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94884|Q6NZY0|Q6PX59|Q8NBE6|Q96IF2|Q9H7S0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D622N	ENST00000323853.5	37	c.1864	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.718256	0.96839	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.16457	2.34	6.17	6.17	0.99709	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49575	0.1565	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.49960	-0.8883	10	0.87932	D	0	-18.7724	19.6509	0.95805	0.0:1.0:0.0:0.0	.	622	O75643	U520_HUMAN	N	622;297	ENSP00000317123:D622N	ENSP00000317123:D622N	D	-	1	0	SNRNP200	96322953	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	7.300000	0.78841	2.941000	0.99782	0.655000	0.94253	GAT	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.473	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	72	0.00	0	C	NM_014014		96959226	96959226	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	33	15.38	6	SNP	1.000	T
SNED1	25992	genome.wustl.edu	37	2	241976303	241976303	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:241976303C>G	ENST00000310397.8	+	5	902	c.902C>G	c.(901-903)tCg>tGg	p.S301W	SNED1_ENST00000405547.3_Missense_Mutation_p.S301W|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S301W|SNED1_ENST00000342631.6_Missense_Mutation_p.S301W	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	301	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCCTGCCTCTCGGGCTTCACG	0.711																																						dbGAP											0													23.0	29.0	27.0					2																	241976303		2138	4243	6381	-	-	-	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.902C>G	2.37:g.241976303C>G	ENSP00000308893:p.Ser301Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.S301W	ENST00000310397.8	37	c.902	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177475	0.78564	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.71	4.71	0.59529	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.449376	0.17276	N	0.180184	D	0.93074	0.7795	M	0.69185	2.1	0.21627	N	0.999612	D	0.76494	0.999	D	0.71870	0.975	D	0.86609	0.1871	10	0.72032	D	0.01	.	13.439	0.61101	0.0:0.8427:0.1573:0.0	.	301	Q8TER0	SNED1_HUMAN	W	301	ENSP00000384871:S301W;ENSP00000386007:S301W;ENSP00000308893:S301W;ENSP00000342992:S301W	ENSP00000308893:S301W	S	+	2	0	SNED1	241624976	0.975000	0.34042	0.052000	0.19188	0.865000	0.49528	5.626000	0.67777	2.177000	0.69029	0.561000	0.74099	TCG	SNED1	-	pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000162804		0.711	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	26	0.00	0	C	XM_059482		241976303	241976303	+1	no_errors	ENST00000310397	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.198	G
SNED1	25992	genome.wustl.edu	37	2	241976303	241976303	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:241976303C>G	ENST00000310397.8	+	5	902	c.902C>G	c.(901-903)tCg>tGg	p.S301W	SNED1_ENST00000405547.3_Missense_Mutation_p.S301W|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.S301W|SNED1_ENST00000342631.6_Missense_Mutation_p.S301W	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	301	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCCTGCCTCTCGGGCTTCACG	0.711																																						dbGAP											0													23.0	29.0	27.0					2																	241976303		2138	4243	6381	-	-	-	SO:0001583	missense	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.902C>G	2.37:g.241976303C>G	ENSP00000308893:p.Ser301Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	pfam_EGF-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.S301W	ENST00000310397.8	37	c.902	CCDS46562.1	2	.	.	.	.	.	.	.	.	.	.	C	21.6	4.177475	0.78564	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	4.71	4.71	0.59529	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.449376	0.17276	N	0.180184	D	0.93074	0.7795	M	0.69185	2.1	0.21627	N	0.999612	D	0.76494	0.999	D	0.71870	0.975	D	0.86609	0.1871	10	0.72032	D	0.01	.	13.439	0.61101	0.0:0.8427:0.1573:0.0	.	301	Q8TER0	SNED1_HUMAN	W	301	ENSP00000384871:S301W;ENSP00000386007:S301W;ENSP00000308893:S301W;ENSP00000342992:S301W	ENSP00000308893:S301W	S	+	2	0	SNED1	241624976	0.975000	0.34042	0.052000	0.19188	0.865000	0.49528	5.626000	0.67777	2.177000	0.69029	0.561000	0.74099	TCG	SNED1	-	pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	ENSG00000162804		0.711	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2	30	0.00	0	C	XM_059482		241976303	241976303	+1	no_errors	ENST00000310397	ensembl	human	known	69_37n	missense	8	33.33	4	SNP	0.198	G
SNX4	8723	genome.wustl.edu	37	3	125172706	125172706	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:125172706C>G	ENST00000251775.4	-	12	1162	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	SNX4_ENST00000536067.1_Missense_Mutation_p.E235Q	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	380					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTTATTTGTTCTTCTAGCACC	0.398																																						dbGAP											0													150.0	146.0	148.0					3																	125172706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1138G>C	3.37:g.125172706C>G	ENSP00000251775:p.Glu380Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E380Q	ENST00000251775.4	37	c.1138	CCDS3032.1	3	.	.	.	.	.	.	.	.	.	.	C	8.078	0.771853	0.16051	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.46063	0.88;1.97	5.44	4.55	0.56014	.	0.159749	0.53938	D	0.000044	T	0.28764	0.0713	L	0.27053	0.805	0.35566	D	0.805079	B	0.12630	0.006	B	0.09377	0.004	T	0.21314	-1.0249	10	0.12766	T	0.61	-18.0954	14.583	0.68305	0.0:0.9282:0.0:0.0718	.	380	O95219	SNX4_HUMAN	Q	380;235	ENSP00000251775:E380Q;ENSP00000440824:E235Q	ENSP00000251775:E380Q	E	-	1	0	SNX4	126655396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.352000	0.44080	2.535000	0.85469	0.557000	0.71058	GAA	SNX4	-	NULL	ENSG00000114520		0.398	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX4	HGNC	protein_coding	OTTHUMT00000356299.1	71	0.00	0	C	NM_003794		125172706	125172706	-1	no_errors	ENST00000251775	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	1.000	G
SNX4	8723	genome.wustl.edu	37	3	125172706	125172706	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:125172706C>G	ENST00000251775.4	-	12	1162	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	SNX4_ENST00000536067.1_Missense_Mutation_p.E235Q	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	380					endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TTTATTTGTTCTTCTAGCACC	0.398																																						dbGAP											0													150.0	146.0	148.0					3																	125172706		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.1138G>C	3.37:g.125172706C>G	ENSP00000251775:p.Glu380Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMH0|B4DQV4|D3DNA3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E380Q	ENST00000251775.4	37	c.1138	CCDS3032.1	3	.	.	.	.	.	.	.	.	.	.	C	8.078	0.771853	0.16051	.	.	ENSG00000114520	ENST00000251775;ENST00000536067	T;T	0.46063	0.88;1.97	5.44	4.55	0.56014	.	0.159749	0.53938	D	0.000044	T	0.28764	0.0713	L	0.27053	0.805	0.35566	D	0.805079	B	0.12630	0.006	B	0.09377	0.004	T	0.21314	-1.0249	10	0.12766	T	0.61	-18.0954	14.583	0.68305	0.0:0.9282:0.0:0.0718	.	380	O95219	SNX4_HUMAN	Q	380;235	ENSP00000251775:E380Q;ENSP00000440824:E235Q	ENSP00000251775:E380Q	E	-	1	0	SNX4	126655396	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.352000	0.44080	2.535000	0.85469	0.557000	0.71058	GAA	SNX4	-	NULL	ENSG00000114520		0.398	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX4	HGNC	protein_coding	OTTHUMT00000356299.1	83	0.00	0	C	NM_003794		125172706	125172706	-1	no_errors	ENST00000251775	ensembl	human	known	69_37n	missense	49	25.76	17	SNP	1.000	G
SP3	6670	genome.wustl.edu	37	2	174774887	174774887	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:174774887G>A	ENST00000310015.6	-	7	2658	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y	SP3_ENST00000418194.2_Missense_Mutation_p.H642Y|SP3_ENST00000455789.2_Missense_Mutation_p.H657Y	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	710					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGCTAGAGTGAATACCTTTT	0.403																																						dbGAP											0													111.0	108.0	109.0					2																	174774887		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2128C>T	2.37:g.174774887G>A	ENSP00000310301:p.His710Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H710Y	ENST00000310015.6	37	c.2128	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098133	0.37048	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05580	3.44;3.43;3.42	5.14	5.14	0.70334	.	0.222774	0.46145	D	0.000313	T	0.09598	0.0236	N	0.22421	0.69	0.38122	D	0.937892	P;P;D	0.56035	0.946;0.937;0.974	B;P;P	0.49301	0.326;0.579;0.606	T	0.17048	-1.0382	10	0.49607	T	0.09	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	707;710;657	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	Y	710;657;642	ENSP00000310301:H710Y;ENSP00000388903:H657Y;ENSP00000406140:H642Y	ENSP00000310301:H710Y	H	-	1	0	SP3	174483133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.172000	0.65003	2.559000	0.86315	0.557000	0.71058	CAC	SP3	-	NULL	ENSG00000172845		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	62	0.00	0	G	NM_003111		174774887	174774887	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	A
SP3	6670	genome.wustl.edu	37	2	174774887	174774887	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:174774887G>A	ENST00000310015.6	-	7	2658	c.2128C>T	c.(2128-2130)Cac>Tac	p.H710Y	SP3_ENST00000418194.2_Missense_Mutation_p.H642Y|SP3_ENST00000455789.2_Missense_Mutation_p.H657Y	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	710					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGCTAGAGTGAATACCTTTT	0.403																																						dbGAP											0													111.0	108.0	109.0					2																	174774887		2203	4300	6503	-	-	-	SO:0001583	missense	0			M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2128C>T	2.37:g.174774887G>A	ENSP00000310301:p.His710Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H710Y	ENST00000310015.6	37	c.2128	CCDS2254.1	2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098133	0.37048	.	.	ENSG00000172845	ENST00000310015;ENST00000455789;ENST00000418194	T;T;T	0.05580	3.44;3.43;3.42	5.14	5.14	0.70334	.	0.222774	0.46145	D	0.000313	T	0.09598	0.0236	N	0.22421	0.69	0.38122	D	0.937892	P;P;D	0.56035	0.946;0.937;0.974	B;P;P	0.49301	0.326;0.579;0.606	T	0.17048	-1.0382	10	0.49607	T	0.09	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	707;710;657	B7ZLN9;Q02447;Q02447-6	.;SP3_HUMAN;.	Y	710;657;642	ENSP00000310301:H710Y;ENSP00000388903:H657Y;ENSP00000406140:H642Y	ENSP00000310301:H710Y	H	-	1	0	SP3	174483133	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.172000	0.65003	2.559000	0.86315	0.557000	0.71058	CAC	SP3	-	NULL	ENSG00000172845		0.403	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP3	HGNC	protein_coding	OTTHUMT00000255452.1	48	0.00	0	G	NM_003111		174774887	174774887	-1	no_errors	ENST00000310015	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	1.000	A
SPAG16	79582	genome.wustl.edu	37	2	214149243	214149243	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:214149243G>C	ENST00000331683.5	+	1	131	c.36G>C	c.(34-36)gtG>gtC	p.V12V	SPAG16_ENST00000272898.7_Silent_p.V12V|SPAG16_ENST00000432529.2_Silent_p.V12V|SPAG16_ENST00000447990.1_Silent_p.V12V|SPAG16_ENST00000413312.1_5'UTR|AC079610.2_ENST00000360083.3_lincRNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	12					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCTCCGCCGTGAGGGTCCTGG	0.701																																						dbGAP											0													15.0	16.0	16.0					2																	214149243		2185	4286	6471	-	-	-	SO:0001819	synonymous_variant	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.36G>C	2.37:g.214149243G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V12	ENST00000331683.5	37	c.36	CCDS2396.1	2																																																																																			SPAG16	-	NULL	ENSG00000144451		0.701	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	120	0.00	0	G	NM_024532		214149243	214149243	+1	no_errors	ENST00000331683	ensembl	human	known	69_37n	silent	59	23.38	18	SNP	0.005	C
SPAG16	79582	genome.wustl.edu	37	2	214149243	214149243	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:214149243G>C	ENST00000331683.5	+	1	131	c.36G>C	c.(34-36)gtG>gtC	p.V12V	SPAG16_ENST00000272898.7_Silent_p.V12V|SPAG16_ENST00000432529.2_Silent_p.V12V|SPAG16_ENST00000447990.1_Silent_p.V12V|SPAG16_ENST00000413312.1_5'UTR|AC079610.2_ENST00000360083.3_lincRNA	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	12					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GCTCCGCCGTGAGGGTCCTGG	0.701																																						dbGAP											0													15.0	16.0	16.0					2																	214149243		2185	4286	6471	-	-	-	SO:0001819	synonymous_variant	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.36G>C	2.37:g.214149243G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V12	ENST00000331683.5	37	c.36	CCDS2396.1	2																																																																																			SPAG16	-	NULL	ENSG00000144451		0.701	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	89	0.00	0	G	NM_024532		214149243	214149243	+1	no_errors	ENST00000331683	ensembl	human	known	69_37n	silent	59	23.38	18	SNP	0.005	C
SP100	6672	genome.wustl.edu	37	2	231307769	231307769	+	Silent	SNP	C	C	G	rs149925213	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:231307769C>G	ENST00000264052.5	+	3	580	c.225C>G	c.(223-225)ctC>ctG	p.L75L	SP100_ENST00000409897.1_Silent_p.L40L|SP100_ENST00000409824.1_Silent_p.L50L|SP100_ENST00000341950.4_Silent_p.L75L|SP100_ENST00000427101.2_Silent_p.L50L|SP100_ENST00000409341.1_Silent_p.L75L|SP100_ENST00000409112.1_Silent_p.L75L|SP100_ENST00000340126.4_Silent_p.L75L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	75	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCCATTCCTCGAGGGCCTCC	0.368																																						dbGAP											0													106.0	110.0	108.0					2																	231307769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.225C>G	2.37:g.231307769C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.L75	ENST00000264052.5	37	c.225	CCDS2477.1	2																																																																																			SP100	-	pfam_Sp100	ENSG00000067066		0.368	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	41	0.00	0	C	NM_003113		231307769	231307769	+1	no_errors	ENST00000340126	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.047	G
SP100	6672	genome.wustl.edu	37	2	231307769	231307769	+	Silent	SNP	C	C	G	rs149925213	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:231307769C>G	ENST00000264052.5	+	3	580	c.225C>G	c.(223-225)ctC>ctG	p.L75L	SP100_ENST00000409897.1_Silent_p.L40L|SP100_ENST00000409824.1_Silent_p.L50L|SP100_ENST00000341950.4_Silent_p.L75L|SP100_ENST00000427101.2_Silent_p.L50L|SP100_ENST00000409341.1_Silent_p.L75L|SP100_ENST00000409112.1_Silent_p.L75L|SP100_ENST00000340126.4_Silent_p.L75L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	75	HSR. {ECO:0000255|PROSITE- ProRule:PRU00747}.				cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTCCATTCCTCGAGGGCCTCC	0.368																																						dbGAP											0													106.0	110.0	108.0					2																	231307769		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.225C>G	2.37:g.231307769C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.L75	ENST00000264052.5	37	c.225	CCDS2477.1	2																																																																																			SP100	-	pfam_Sp100	ENSG00000067066		0.368	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	28	0.00	0	C	NM_003113		231307769	231307769	+1	no_errors	ENST00000340126	ensembl	human	known	69_37n	silent	37	11.90	5	SNP	0.047	G
SPATA13	221178	genome.wustl.edu	37	13	24797426	24797426	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:24797426C>T	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.S120L|SPATA13_ENST00000424834.2_Missense_Mutation_p.S120L|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.S120L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTGAAGTCCTCAGTCCTGAAA	0.567																																						dbGAP											0													33.0	38.0	36.0					13																	24797426		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26189C>T	13.37:g.24797426C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S120L	ENST00000382095.4	37	c.359	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159656	0.78226	.	.	ENSG00000182957	ENST00000382108	D	0.82803	-1.65	5.25	5.25	0.73442	.	0.000000	0.34245	U	0.004122	D	0.86715	0.5999	L	0.47190	1.495	0.80722	D	1	.	.	.	.	.	.	D	0.87772	0.2606	8	0.87932	D	0	.	18.2627	0.90041	0.0:1.0:0.0:0.0	.	.	.	.	L	120	ENSP00000371542:S120L	ENSP00000371542:S120L	S	+	2	0	SPATA13	23695426	0.999000	0.42202	0.094000	0.20943	0.545000	0.35147	6.585000	0.74062	2.644000	0.89710	0.478000	0.44815	TCA	SPATA13	-	NULL	ENSG00000182957		0.567	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	72	0.00	0	C	NM_153023		24797426	24797426	+1	no_errors	ENST00000382108	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.788	T
SPATA13	221178	genome.wustl.edu	37	13	24797426	24797426	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:24797426C>T	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.S120L|SPATA13_ENST00000424834.2_Missense_Mutation_p.S120L|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.S120L	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CTGAAGTCCTCAGTCCTGAAA	0.567																																						dbGAP											0													33.0	38.0	36.0					13																	24797426		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-26189C>T	13.37:g.24797426C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S120L	ENST00000382095.4	37	c.359	CCDS9305.1	13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159656	0.78226	.	.	ENSG00000182957	ENST00000382108	D	0.82803	-1.65	5.25	5.25	0.73442	.	0.000000	0.34245	U	0.004122	D	0.86715	0.5999	L	0.47190	1.495	0.80722	D	1	.	.	.	.	.	.	D	0.87772	0.2606	8	0.87932	D	0	.	18.2627	0.90041	0.0:1.0:0.0:0.0	.	.	.	.	L	120	ENSP00000371542:S120L	ENSP00000371542:S120L	S	+	2	0	SPATA13	23695426	0.999000	0.42202	0.094000	0.20943	0.545000	0.35147	6.585000	0.74062	2.644000	0.89710	0.478000	0.44815	TCA	SPATA13	-	NULL	ENSG00000182957		0.567	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	73	0.00	0	C	NM_153023		24797426	24797426	+1	no_errors	ENST00000382108	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	0.788	T
SPECC1L	23384	genome.wustl.edu	37	22	24765209	24765209	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:24765209C>G	ENST00000314328.9	+	14	3293	c.3008C>G	c.(3007-3009)tCa>tGa	p.S1003*	SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S1003*|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S1003*	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1003					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S1003L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACCCTCTCTCAGCATTGGCC	0.378																																						dbGAP											1	Substitution - Missense(1)	lung(1)											110.0	102.0	105.0					22																	24765209		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3008C>G	22.37:g.24765209C>G	ENSP00000325785:p.Ser1003*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.S1003*	ENST00000314328.9	37	c.3008	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	C	43	9.923947	0.99297	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	0.073744	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3951	18.5081	0.90905	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000325785:S1003X	S	+	2	0	SPECC1L	23095209	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.177000	0.77650	2.607000	0.88179	0.563000	0.77884	TCA	SPECC1L	-	NULL	ENSG00000100014		0.378	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	59	0.00	0	C	NM_015330		24765209	24765209	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	nonsense	13	35.00	7	SNP	0.999	G
SPECC1L	23384	genome.wustl.edu	37	22	24765209	24765209	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:24765209C>G	ENST00000314328.9	+	14	3293	c.3008C>G	c.(3007-3009)tCa>tGa	p.S1003*	SPECC1L_ENST00000541492.1_Nonsense_Mutation_p.S1003*|SPECC1L-ADORA2A_ENST00000358654.2_3'UTR|SPECC1L_ENST00000437398.1_Nonsense_Mutation_p.S1003*	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1003					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)		p.S1003L(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						GACCCTCTCTCAGCATTGGCC	0.378																																						dbGAP											1	Substitution - Missense(1)	lung(1)											110.0	102.0	105.0					22																	24765209		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	ENST00000314328.9:c.3008C>G	22.37:g.24765209C>G	ENSP00000325785:p.Ser1003*	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z758|F5H1H6|O15081	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain	p.S1003*	ENST00000314328.9	37	c.3008	CCDS33619.1	22	.	.	.	.	.	.	.	.	.	.	C	43	9.923947	0.99297	.	.	ENSG00000100014	ENST00000437398;ENST00000314328;ENST00000541492	.	.	.	5.56	5.56	0.83823	.	0.073744	0.56097	D	0.000022	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3951	18.5081	0.90905	0.0:1.0:0.0:0.0	.	.	.	.	X	1003	.	ENSP00000325785:S1003X	S	+	2	0	SPECC1L	23095209	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.177000	0.77650	2.607000	0.88179	0.563000	0.77884	TCA	SPECC1L	-	NULL	ENSG00000100014		0.378	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1L	HGNC	protein_coding	OTTHUMT00000319986.2	47	0.00	0	C	NM_015330		24765209	24765209	+1	no_errors	ENST00000314328	ensembl	human	known	69_37n	nonsense	13	35.00	7	SNP	0.999	G
SPG11	80208	genome.wustl.edu	37	15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:44865858C>T	ENST00000261866.7	-	32	6108	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2031					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547																																						dbGAP											0													98.0	78.0	85.0					15																	44865858		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6092G>A	15.37:g.44865858C>T	ENSP00000261866:p.Arg2031Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.R2031Q	ENST00000261866.7	37	c.6092	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.573181	0.96553	.	.	ENSG00000104133	ENST00000261866;ENST00000427534	T;T	0.78364	-1.17;-0.91	6.17	6.17	0.99709	.	0.053398	0.85682	D	0.000000	D	0.86606	0.5973	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.809	D	0.84558	0.0648	10	0.38643	T	0.18	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2031;2031	C4B7M2;Q96JI7	.;SPTCS_HUMAN	Q	2031	ENSP00000261866:R2031Q;ENSP00000396110:R2031Q	ENSP00000261866:R2031Q	R	-	2	0	SPG11	42653150	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	4.236000	0.58675	2.941000	0.99782	0.655000	0.94253	CGA	SPG11	-	NULL	ENSG00000104133		0.547	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	58	0.00	0	C			44865858	44865858	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	1.000	T
SPG11	80208	genome.wustl.edu	37	15	44865858	44865858	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:44865858C>T	ENST00000261866.7	-	32	6108	c.6092G>A	c.(6091-6093)cGa>cAa	p.R2031Q	SPG11_ENST00000558319.1_Missense_Mutation_p.R2031Q|SPG11_ENST00000427534.2_Missense_Mutation_p.R2031Q|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2031					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCGTTTGCATCGGTCAGGCTG	0.547																																						dbGAP											0													98.0	78.0	85.0					15																	44865858		2198	4298	6496	-	-	-	SO:0001583	missense	0				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6092G>A	15.37:g.44865858C>T	ENSP00000261866:p.Arg2031Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.R2031Q	ENST00000261866.7	37	c.6092	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.573181	0.96553	.	.	ENSG00000104133	ENST00000261866;ENST00000427534	T;T	0.78364	-1.17;-0.91	6.17	6.17	0.99709	.	0.053398	0.85682	D	0.000000	D	0.86606	0.5973	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.61070	0.883;0.809	D	0.84558	0.0648	10	0.38643	T	0.18	.	18.6524	0.91435	0.0:1.0:0.0:0.0	.	2031;2031	C4B7M2;Q96JI7	.;SPTCS_HUMAN	Q	2031	ENSP00000261866:R2031Q;ENSP00000396110:R2031Q	ENSP00000261866:R2031Q	R	-	2	0	SPG11	42653150	0.971000	0.33674	1.000000	0.80357	0.997000	0.91878	4.236000	0.58675	2.941000	0.99782	0.655000	0.94253	CGA	SPG11	-	NULL	ENSG00000104133		0.547	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	31	0.00	0	C			44865858	44865858	-1	no_errors	ENST00000261866	ensembl	human	known	69_37n	missense	34	26.09	12	SNP	1.000	T
SPNS1	83985	genome.wustl.edu	37	16	28995790	28995790	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:28995790G>A	ENST00000311008.11	+	0	2134				LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_3'UTR|LAT_ENST00000360872.5_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000565975.1_3'UTR|SPNS1_ENST00000352260.7_3'UTR|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000334536.8_3'UTR	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGGGTCCAGGAGGGGGATCC	0.622																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.*170G>A	16.37:g.28995790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E523K	ENST00000311008.11	37	c.1567	CCDS10646.1	16																																																																																			SPNS1	-	pfscan_MFS_dom	ENSG00000169682		0.622	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	45	0.00	0	G	NM_032038		28995790	28995790	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566059	ensembl	human	putative	69_37n	missense	37	19.57	9	SNP	0.004	A
SPNS1	83985	genome.wustl.edu	37	16	28995790	28995790	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:28995790G>A	ENST00000311008.11	+	0	2134				LAT_ENST00000564277.1_5'Flank|LAT_ENST00000395461.3_5'Flank|LAT_ENST00000566177.1_5'Flank|LAT_ENST00000354453.4_5'Flank|SPNS1_ENST00000323081.8_3'UTR|LAT_ENST00000360872.5_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000395456.2_5'Flank|SPNS1_ENST00000565975.1_3'UTR|SPNS1_ENST00000352260.7_3'UTR|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000334536.8_3'UTR	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)						lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						GGGGGTCCAGGAGGGGGATCC	0.622																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.*170G>A	16.37:g.28995790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E523K	ENST00000311008.11	37	c.1567	CCDS10646.1	16																																																																																			SPNS1	-	pfscan_MFS_dom	ENSG00000169682		0.622	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS1	HGNC	protein_coding	OTTHUMT00000254690.2	43	0.00	0	G	NM_032038		28995790	28995790	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000566059	ensembl	human	putative	69_37n	missense	37	19.57	9	SNP	0.004	A
SPOP	8405	genome.wustl.edu	37	17	47699344	47699344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:47699344G>C	ENST00000393328.2	-	4	529	c.164C>G	c.(163-165)tCt>tGt	p.S55C	SPOP_ENST00000503676.1_Missense_Mutation_p.S55C|SPOP_ENST00000393331.3_Missense_Mutation_p.S55C|SPOP_ENST00000347630.2_Missense_Mutation_p.S55C|SPOP_ENST00000504102.1_Missense_Mutation_p.S55C|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	55	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAAAATGTAGAACTTTTAAT	0.343										Prostate(2;0.17)																												dbGAP											0													68.0	63.0	65.0					17																	47699344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.164C>G	17.37:g.47699344G>C	ENSP00000377001:p.Ser55Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.S55C	ENST00000393328.2	37	c.164	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545817	0.86022	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.35793	1.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54207	-0.8328	10	0.48119	T	0.1	-5.168	18.8261	0.92119	0.0:0.0:1.0:0.0	.	55	O43791	SPOP_HUMAN	C	55;55;55;55;55;8;55;55;55;55;55;55	ENSP00000377001:S55C;ENSP00000377004:S55C;ENSP00000240327:S55C;ENSP00000425905:S55C;ENSP00000420908:S55C;ENSP00000426986:S55C;ENSP00000420960:S55C;ENSP00000426262:S55C;ENSP00000424119:S55C;ENSP00000426537:S55C;ENSP00000425410:S55C	ENSP00000240327:S55C	S	-	2	0	SPOP	45054343	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	TCT	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000121067		0.343	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	64	0.00	0	G	NM_003563		47699344	47699344	-1	no_errors	ENST00000347630	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	C
SPOP	8405	genome.wustl.edu	37	17	47699344	47699344	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:47699344G>C	ENST00000393328.2	-	4	529	c.164C>G	c.(163-165)tCt>tGt	p.S55C	SPOP_ENST00000503676.1_Missense_Mutation_p.S55C|SPOP_ENST00000393331.3_Missense_Mutation_p.S55C|SPOP_ENST00000347630.2_Missense_Mutation_p.S55C|SPOP_ENST00000504102.1_Missense_Mutation_p.S55C|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	55	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TGAAAATGTAGAACTTTTAAT	0.343										Prostate(2;0.17)																												dbGAP											0													68.0	63.0	65.0					17																	47699344		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.164C>G	17.37:g.47699344G>C	ENSP00000377001:p.Ser55Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.S55C	ENST00000393328.2	37	c.164	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545817	0.86022	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.34	5.34	0.76211	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	L	0.35793	1.09	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54207	-0.8328	10	0.48119	T	0.1	-5.168	18.8261	0.92119	0.0:0.0:1.0:0.0	.	55	O43791	SPOP_HUMAN	C	55;55;55;55;55;8;55;55;55;55;55;55	ENSP00000377001:S55C;ENSP00000377004:S55C;ENSP00000240327:S55C;ENSP00000425905:S55C;ENSP00000420908:S55C;ENSP00000426986:S55C;ENSP00000420960:S55C;ENSP00000426262:S55C;ENSP00000424119:S55C;ENSP00000426537:S55C;ENSP00000425410:S55C	ENSP00000240327:S55C	S	-	2	0	SPOP	45054343	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.657000	0.98554	2.781000	0.95711	0.650000	0.86243	TCT	SPOP	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH	ENSG00000121067		0.343	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	76	0.00	0	G	NM_003563		47699344	47699344	-1	no_errors	ENST00000347630	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	C
SPOP	8405	genome.wustl.edu	37	17	47700145	47700145	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:47700145G>T	ENST00000393328.2	-	3	393	c.28C>A	c.(28-30)Ccg>Acg	p.P10T	SPOP_ENST00000503676.1_Missense_Mutation_p.P10T|SPOP_ENST00000393331.3_Missense_Mutation_p.P10T|SPOP_ENST00000347630.2_Missense_Mutation_p.P10T|SPOP_ENST00000504102.1_Missense_Mutation_p.P10T|SPOP_ENST00000513080.1_5'UTR	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	10					glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						ATTTCTGCCGGAGGTGGAGGA	0.502										Prostate(2;0.17)																												dbGAP											0													119.0	111.0	114.0					17																	47700145		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.28C>A	17.37:g.47700145G>T	ENSP00000377001:p.Pro10Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.P10T	ENST00000393328.2	37	c.28	CCDS11551.1	17	.	.	.	.	.	.	.	.	.	.	G	12.73	2.024824	0.35701	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508;ENST00000510476;ENST00000508805;ENST00000451526	T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.48	4.52	0.55395	.	0.102924	0.64402	D	0.000002	T	0.43299	0.1241	L	0.56769	1.78	0.80722	D	1	B	0.21225	0.053	B	0.28305	0.088	T	0.39981	-0.9587	10	0.49607	T	0.09	-2.9643	14.1786	0.65559	0.0722:0.0:0.9278:0.0	.	10	O43791	SPOP_HUMAN	T	10	ENSP00000377001:P10T;ENSP00000377004:P10T;ENSP00000240327:P10T;ENSP00000425905:P10T;ENSP00000420908:P10T;ENSP00000426986:P10T;ENSP00000420960:P10T;ENSP00000426262:P10T;ENSP00000424119:P10T;ENSP00000426537:P10T;ENSP00000425410:P10T	ENSP00000240327:P10T	P	-	1	0	SPOP	45055144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.561000	0.73955	1.561000	0.49584	0.650000	0.86243	CCG	SPOP	-	NULL	ENSG00000121067		0.502	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOP	HGNC	protein_coding	OTTHUMT00000365154.2	69	0.00	0	G	NM_003563		47700145	47700145	-1	no_errors	ENST00000347630	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54856887	54856887	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:54856887C>T	ENST00000356805.4	+	14	2897	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	SPTBN1_ENST00000333896.5_Silent_p.L859L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	872					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCAGTGGCTCAACAACATGC	0.597																																						dbGAP											0													40.0	40.0	40.0					2																	54856887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2616C>T	2.37:g.54856887C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L872	ENST00000356805.4	37	c.2616	CCDS33198.1	2																																																																																			SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	27	0.00	0	C			54856887	54856887	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.976	T
SPTBN1	6711	genome.wustl.edu	37	2	54856887	54856887	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:54856887C>T	ENST00000356805.4	+	14	2897	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	SPTBN1_ENST00000333896.5_Silent_p.L859L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	872					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCAGTGGCTCAACAACATGC	0.597																																						dbGAP											0													40.0	40.0	40.0					2																	54856887		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2616C>T	2.37:g.54856887C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L872	ENST00000356805.4	37	c.2616	CCDS33198.1	2																																																																																			SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000115306		0.597	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	36	0.00	0	C			54856887	54856887	+1	no_errors	ENST00000356805	ensembl	human	known	69_37n	silent	24	20.00	6	SNP	0.976	T
SPTLC3	55304	genome.wustl.edu	37	20	13140723	13140723	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:13140723G>A	ENST00000399002.2	+	11	1763	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	497					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCCCCTCGCAGAAGCTCGGGC	0.493																																						dbGAP											0													71.0	74.0	73.0					20																	13140723		1829	4095	5924	-	-	-	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1489G>A	20.37:g.13140723G>A	ENSP00000381968:p.Glu497Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E497K	ENST00000399002.2	37	c.1489	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	G	35	5.506550	0.96386	.	.	ENSG00000172296	ENST00000399002	D	0.90955	-2.76	5.84	5.84	0.93424	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.090637	0.85682	D	0.000000	D	0.92443	0.7601	L	0.39147	1.195	0.80722	D	1	D	0.67145	0.996	D	0.63113	0.911	D	0.89404	0.3698	10	0.21014	T	0.42	-11.5721	20.1551	0.98106	0.0:0.0:1.0:0.0	.	497	Q9NUV7	SPTC3_HUMAN	K	497	ENSP00000381968:E497K	ENSP00000381968:E497K	E	+	1	0	SPTLC3	13088723	1.000000	0.71417	0.932000	0.37286	0.972000	0.66771	9.312000	0.96287	2.760000	0.94817	0.655000	0.94253	GAA	SPTLC3	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000172296		0.493	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	41	0.00	0	G	NM_018327		13140723	13140723	+1	no_errors	ENST00000399002	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	A
SPTLC3	55304	genome.wustl.edu	37	20	13140723	13140723	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:13140723G>A	ENST00000399002.2	+	11	1763	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	497					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						TCCCCTCGCAGAAGCTCGGGC	0.493																																						dbGAP											0													71.0	74.0	73.0					20																	13140723		1829	4095	5924	-	-	-	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1489G>A	20.37:g.13140723G>A	ENSP00000381968:p.Glu497Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.E497K	ENST00000399002.2	37	c.1489	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	G	35	5.506550	0.96386	.	.	ENSG00000172296	ENST00000399002	D	0.90955	-2.76	5.84	5.84	0.93424	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.090637	0.85682	D	0.000000	D	0.92443	0.7601	L	0.39147	1.195	0.80722	D	1	D	0.67145	0.996	D	0.63113	0.911	D	0.89404	0.3698	10	0.21014	T	0.42	-11.5721	20.1551	0.98106	0.0:0.0:1.0:0.0	.	497	Q9NUV7	SPTC3_HUMAN	K	497	ENSP00000381968:E497K	ENSP00000381968:E497K	E	+	1	0	SPTLC3	13088723	1.000000	0.71417	0.932000	0.37286	0.972000	0.66771	9.312000	0.96287	2.760000	0.94817	0.655000	0.94253	GAA	SPTLC3	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000172296		0.493	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	48	0.00	0	G	NM_018327		13140723	13140723	+1	no_errors	ENST00000399002	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	A
EIF4EBP3	8637	genome.wustl.edu	37	5	139930428	139930428	+	IGR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:139930428C>T	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.E190K	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGACCTCAGTCACATGG	0.517																																						dbGAP											0													82.0	81.0	82.0					5																	139930428		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139930428C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SRA1-protein/COPII_Sec31	p.E190K	ENST00000310331.2	37	c.568	CCDS4226.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.713805	0.96830	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.55930	0.49	5.74	5.74	0.90152	.	0.000000	0.64402	U	0.000001	T	0.77267	0.4105	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78380	-0.2226	9	.	.	.	.	19.9336	0.97129	0.0:1.0:0.0:0.0	.	190	Q9HD15	SRA1_HUMAN	K	190;116	ENSP00000337513:E190K	.	E	-	1	0	SRA1	139910612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.094000	0.76944	2.717000	0.92951	0.563000	0.77884	GAG	SRA1	-	pfam_SRA1-protein/COPII_Sec31	ENSG00000213523		0.517	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRA1	HGNC	protein_coding	OTTHUMT00000251668.2	51	0.00	0	C	NM_003732		139930428	139930428	-1	no_errors	ENST00000336283	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	1.000	T
EIF4EBP3	8637	genome.wustl.edu	37	5	139930428	139930428	+	IGR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:139930428C>T	ENST00000310331.2	+	0	691				SRA1_ENST00000520427.1_5'UTR|SRA1_ENST00000336283.6_Missense_Mutation_p.E190K	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTGACCTCAGTCACATGG	0.517																																						dbGAP											0													82.0	81.0	82.0					5																	139930428		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139930428C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SRA1-protein/COPII_Sec31	p.E190K	ENST00000310331.2	37	c.568	CCDS4226.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.713805	0.96830	.	.	ENSG00000213523	ENST00000336283;ENST00000520427	T	0.55930	0.49	5.74	5.74	0.90152	.	0.000000	0.64402	U	0.000001	T	0.77267	0.4105	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78380	-0.2226	9	.	.	.	.	19.9336	0.97129	0.0:1.0:0.0:0.0	.	190	Q9HD15	SRA1_HUMAN	K	190;116	ENSP00000337513:E190K	.	E	-	1	0	SRA1	139910612	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.094000	0.76944	2.717000	0.92951	0.563000	0.77884	GAG	SRA1	-	pfam_SRA1-protein/COPII_Sec31	ENSG00000213523		0.517	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRA1	HGNC	protein_coding	OTTHUMT00000251668.2	63	0.00	0	C	NM_003732		139930428	139930428	-1	no_errors	ENST00000336283	ensembl	human	known	69_37n	missense	38	33.33	19	SNP	1.000	T
SRGAP1	57522	genome.wustl.edu	37	12	64485059	64485059	+	Silent	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:64485059T>A	ENST00000355086.3	+	12	1964	c.1440T>A	c.(1438-1440)ccT>ccA	p.P480P	SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	480	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCCTTAGGCCTCCAAATGTTC	0.413																																						dbGAP											0													77.0	79.0	78.0					12																	64485059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1440T>A	12.37:g.64485059T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P480	ENST00000355086.3	37	c.1440	CCDS8967.1	12																																																																																			SRGAP1	-	NULL	ENSG00000196935		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	51	0.00	0	T			64485059	64485059	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	1.000	A
SRGAP1	57522	genome.wustl.edu	37	12	64485059	64485059	+	Silent	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:64485059T>A	ENST00000355086.3	+	12	1964	c.1440T>A	c.(1438-1440)ccT>ccA	p.P480P	SRGAP1_ENST00000357825.3_Intron|SRGAP1_ENST00000543397.1_Intron|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	480	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCCTTAGGCCTCCAAATGTTC	0.413																																						dbGAP											0													77.0	79.0	78.0					12																	64485059		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1440T>A	12.37:g.64485059T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.P480	ENST00000355086.3	37	c.1440	CCDS8967.1	12																																																																																			SRGAP1	-	NULL	ENSG00000196935		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	59	0.00	0	T			64485059	64485059	+1	no_errors	ENST00000355086	ensembl	human	known	69_37n	silent	47	20.34	12	SNP	1.000	A
SRSF2	6427	genome.wustl.edu	37	17	74733087	74733087	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:74733087C>G	ENST00000392485.2	-	1	328	c.156G>C	c.(154-156)aaG>aaC	p.K52N	SRSF2_ENST00000508921.3_Missense_Mutation_p.K52N|SRSF2_ENST00000359995.5_Missense_Mutation_p.K52N|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CGCGGGACTCCTTGGTGTAGC	0.672			Mis		"""MDS, CLL"""																																	dbGAP		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													26.0	31.0	29.0					17																	74733087		2200	4300	6500	-	-	-	SO:0001583	missense	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.156G>C	17.37:g.74733087C>G	ENSP00000376276:p.Lys52Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.K52N	ENST00000392485.2	37	c.156	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709641	0.48517	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.74002	-0.8;-0.8;-0.8	4.95	3.98	0.46160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116383	0.56097	D	0.000032	T	0.67392	0.2888	N	0.21373	0.66	0.80722	D	1	B;B	0.27932	0.194;0.194	B;B	0.39217	0.294;0.294	T	0.67906	-0.5549	10	0.66056	D	0.02	.	12.7212	0.57144	0.0:0.9181:0.0:0.0819	.	52;52	B4DN89;Q01130	.;SRSF2_HUMAN	N	52;52;79;40;52	ENSP00000391278:K52N;ENSP00000376276:K52N;ENSP00000353089:K52N	ENSP00000350877:K40N	K	-	3	2	SRSF2	72244682	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.738000	0.26158	1.079000	0.41038	0.462000	0.41574	AAG	SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000161547		0.672	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	75	0.00	0	C	NM_003016		74733087	74733087	-1	no_errors	ENST00000359995	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	G
SRSF2	6427	genome.wustl.edu	37	17	74733087	74733087	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:74733087C>G	ENST00000392485.2	-	1	328	c.156G>C	c.(154-156)aaG>aaC	p.K52N	SRSF2_ENST00000508921.3_Missense_Mutation_p.K52N|SRSF2_ENST00000359995.5_Missense_Mutation_p.K52N|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000586622.1_5'UTR|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000591864.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	52	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						CGCGGGACTCCTTGGTGTAGC	0.672			Mis		"""MDS, CLL"""																																	dbGAP		Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													26.0	31.0	29.0					17																	74733087		2200	4300	6500	-	-	-	SO:0001583	missense	0			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.156G>C	17.37:g.74733087C>G	ENSP00000376276:p.Lys52Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.K52N	ENST00000392485.2	37	c.156	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709641	0.48517	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.74002	-0.8;-0.8;-0.8	4.95	3.98	0.46160	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.116383	0.56097	D	0.000032	T	0.67392	0.2888	N	0.21373	0.66	0.80722	D	1	B;B	0.27932	0.194;0.194	B;B	0.39217	0.294;0.294	T	0.67906	-0.5549	10	0.66056	D	0.02	.	12.7212	0.57144	0.0:0.9181:0.0:0.0819	.	52;52	B4DN89;Q01130	.;SRSF2_HUMAN	N	52;52;79;40;52	ENSP00000391278:K52N;ENSP00000376276:K52N;ENSP00000353089:K52N	ENSP00000350877:K40N	K	-	3	2	SRSF2	72244682	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	0.738000	0.26158	1.079000	0.41038	0.462000	0.41574	AAG	SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	ENSG00000161547		0.672	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	53	0.00	0	C	NM_003016		74733087	74733087	-1	no_errors	ENST00000359995	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	1.000	G
SSPO	23145	genome.wustl.edu	37	7	149521701	149521701	+	RNA	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:149521701C>T	ENST00000378016.2	+	0	13780							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGCCCCTCACCTCTGCAC	0.701																																						dbGAP											0													12.0	14.0	13.0					7																	149521701		2026	4160	6186	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149521701C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		35	0.00	0	C			149521701	149521701	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	0.000	T
SSPO	23145	genome.wustl.edu	37	7	149521701	149521701	+	RNA	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:149521701C>T	ENST00000378016.2	+	0	13780							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGCCCCTCACCTCTGCAC	0.701																																						dbGAP											0													12.0	14.0	13.0					7																	149521701		2026	4160	6186	-	-	-			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149521701C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		17	0.00	0	C			149521701	149521701	+1	no_errors	ENST00000378016	ensembl	human	known	69_37n	rna	14	22.22	4	SNP	0.000	T
STAB2	55576	genome.wustl.edu	37	12	104056750	104056750	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:104056750G>A	ENST00000388887.2	+	18	2200	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATCGATGTGATGAAACAAA	0.453																																						dbGAP											0													121.0	119.0	120.0					12																	104056750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1996G>A	12.37:g.104056750G>A	ENSP00000373539:p.Asp666Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D666N	ENST00000388887.2	37	c.1996	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703719	0.30232	.	.	ENSG00000136011	ENST00000388887	T	0.63913	-0.07	5.31	4.16	0.48862	.	0.055924	0.64402	N	0.000002	T	0.52917	0.1764	L	0.55103	1.725	0.36929	D	0.891789	B	0.25390	0.125	B	0.20184	0.028	T	0.52260	-0.8599	10	0.19590	T	0.45	.	10.5915	0.45312	0.1208:0.0:0.8792:0.0	.	666	Q8WWQ8	STAB2_HUMAN	N	666	ENSP00000373539:D666N	ENSP00000373539:D666N	D	+	1	0	STAB2	102580880	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	6.352000	0.73027	0.885000	0.36088	0.655000	0.94253	GAT	STAB2	-	NULL	ENSG00000136011		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	70	0.00	0	G			104056750	104056750	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104056750	104056750	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:104056750G>A	ENST00000388887.2	+	18	2200	c.1996G>A	c.(1996-1998)Gat>Aat	p.D666N		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCATCGATGTGATGAAACAAA	0.453																																						dbGAP											0													121.0	119.0	120.0					12																	104056750		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1996G>A	12.37:g.104056750G>A	ENSP00000373539:p.Asp666Asn	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.D666N	ENST00000388887.2	37	c.1996	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	11.66	1.703719	0.30232	.	.	ENSG00000136011	ENST00000388887	T	0.63913	-0.07	5.31	4.16	0.48862	.	0.055924	0.64402	N	0.000002	T	0.52917	0.1764	L	0.55103	1.725	0.36929	D	0.891789	B	0.25390	0.125	B	0.20184	0.028	T	0.52260	-0.8599	10	0.19590	T	0.45	.	10.5915	0.45312	0.1208:0.0:0.8792:0.0	.	666	Q8WWQ8	STAB2_HUMAN	N	666	ENSP00000373539:D666N	ENSP00000373539:D666N	D	+	1	0	STAB2	102580880	1.000000	0.71417	0.993000	0.49108	0.687000	0.40016	6.352000	0.73027	0.885000	0.36088	0.655000	0.94253	GAT	STAB2	-	NULL	ENSG00000136011		0.453	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	64	0.00	0	G			104056750	104056750	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	1.000	A
STARD8	9754	genome.wustl.edu	37	X	67939204	67939204	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:67939204A>C	ENST00000252336.6	+	6	1985	c.1613A>C	c.(1612-1614)gAg>gCg	p.E538A	STARD8_ENST00000374597.3_Missense_Mutation_p.E538A|STARD8_ENST00000374599.3_Missense_Mutation_p.E618A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	538					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCGTTCATGGAGAAGTACACT	0.622																																						dbGAP											0													76.0	45.0	55.0					X																	67939204		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1613A>C	X.37:g.67939204A>C	ENSP00000252336:p.Glu538Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E618A	ENST00000252336.6	37	c.1853	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862718	0.71949	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.09817	2.94;2.94;2.94	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.76170	2.325	0.80722	D	1	D;P	0.56968	0.978;0.614	D;B	0.69824	0.966;0.418	T	0.02728	-1.1118	10	0.87932	D	0	.	10.5257	0.44948	1.0:0.0:0.0:0.0	.	618;538	Q92502-2;Q92502	.;STAR8_HUMAN	A	538;618;538	ENSP00000252336:E538A;ENSP00000363727:E618A;ENSP00000363725:E538A	ENSP00000252336:E538A	E	+	2	0	STARD8	67855929	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.326000	0.90010	1.605000	0.50152	0.430000	0.28490	GAG	STARD8	-	NULL	ENSG00000130052		0.622	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	122	0.00	0	A	NM_014725		67939204	67939204	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	missense	57	17.14	12	SNP	1.000	C
STARD8	9754	genome.wustl.edu	37	X	67939204	67939204	+	Missense_Mutation	SNP	A	A	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:67939204A>C	ENST00000252336.6	+	6	1985	c.1613A>C	c.(1612-1614)gAg>gCg	p.E538A	STARD8_ENST00000374597.3_Missense_Mutation_p.E538A|STARD8_ENST00000374599.3_Missense_Mutation_p.E618A	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	538					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCGTTCATGGAGAAGTACACT	0.622																																						dbGAP											0													76.0	45.0	55.0					X																	67939204		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1613A>C	X.37:g.67939204A>C	ENSP00000252336:p.Glu538Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.E618A	ENST00000252336.6	37	c.1853	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	A	19.63	3.862718	0.71949	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.09817	2.94;2.94;2.94	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.30008	0.0751	M	0.76170	2.325	0.80722	D	1	D;P	0.56968	0.978;0.614	D;B	0.69824	0.966;0.418	T	0.02728	-1.1118	10	0.87932	D	0	.	10.5257	0.44948	1.0:0.0:0.0:0.0	.	618;538	Q92502-2;Q92502	.;STAR8_HUMAN	A	538;618;538	ENSP00000252336:E538A;ENSP00000363727:E618A;ENSP00000363725:E538A	ENSP00000252336:E538A	E	+	2	0	STARD8	67855929	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.326000	0.90010	1.605000	0.50152	0.430000	0.28490	GAG	STARD8	-	NULL	ENSG00000130052		0.622	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	71	0.00	0	A	NM_014725		67939204	67939204	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	missense	57	17.14	12	SNP	1.000	C
STK38	11329	genome.wustl.edu	37	6	36493391	36493391	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:36493391C>T	ENST00000229812.7	-	3	445	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCCTTCTTCTTCCATCACC	0.348																																					Colon(180;997 3561 16158)	dbGAP											0													260.0	220.0	234.0					6																	36493391		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.160G>A	6.37:g.36493391C>T	ENSP00000229812:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	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.E54K	ENST00000229812.7	37	c.160	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390562	0.62066	.	.	ENSG00000112079	ENST00000229812	T	0.49720	0.77	5.69	5.69	0.88448	.	0.046924	0.85682	D	0.000000	T	0.26268	0.0641	L	0.35341	1.055	0.51767	D	0.999939	B	0.12013	0.005	B	0.10450	0.005	T	0.06285	-1.0835	10	0.22109	T	0.4	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	54	Q15208	STK38_HUMAN	K	54	ENSP00000229812:E54K	ENSP00000229812:E54K	E	-	1	0	STK38	36601369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.900000	0.48687	2.683000	0.91414	0.655000	0.94253	GAA	STK38	-	NULL	ENSG00000112079		0.348	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	52	0.00	0	C	NM_007271		36493391	36493391	-1	no_errors	ENST00000229812	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	T
STK38	11329	genome.wustl.edu	37	6	36493391	36493391	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:36493391C>T	ENST00000229812.7	-	3	445	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGGCCTTCTTCTTCCATCACC	0.348																																					Colon(180;997 3561 16158)	dbGAP											0													260.0	220.0	234.0					6																	36493391		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.160G>A	6.37:g.36493391C>T	ENSP00000229812:p.Glu54Lys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	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.E54K	ENST00000229812.7	37	c.160	CCDS4822.1	6	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390562	0.62066	.	.	ENSG00000112079	ENST00000229812	T	0.49720	0.77	5.69	5.69	0.88448	.	0.046924	0.85682	D	0.000000	T	0.26268	0.0641	L	0.35341	1.055	0.51767	D	0.999939	B	0.12013	0.005	B	0.10450	0.005	T	0.06285	-1.0835	10	0.22109	T	0.4	.	19.8165	0.96571	0.0:1.0:0.0:0.0	.	54	Q15208	STK38_HUMAN	K	54	ENSP00000229812:E54K	ENSP00000229812:E54K	E	-	1	0	STK38	36601369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.900000	0.48687	2.683000	0.91414	0.655000	0.94253	GAA	STK38	-	NULL	ENSG00000112079		0.348	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	46	0.00	0	C	NM_007271		36493391	36493391	-1	no_errors	ENST00000229812	ensembl	human	known	69_37n	missense	62	15.07	11	SNP	1.000	T
STRA6	64220	genome.wustl.edu	37	15	74487715	74487715	+	Silent	SNP	G	G	A	rs563498564		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:74487715G>A	ENST00000323940.5	-	7	770	c.525C>T	c.(523-525)ctC>ctT	p.L175L	STRA6_ENST00000449139.2_Silent_p.L175L|STRA6_ENST00000423167.2_Silent_p.L166L|STRA6_ENST00000535552.1_Silent_p.L212L|STRA6_ENST00000432245.2_3'UTR|STRA6_ENST00000563965.1_Silent_p.L214L|STRA6_ENST00000574278.1_Silent_p.L190L|STRA6_ENST00000395105.4_Silent_p.L175L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Silent_p.L167L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	175					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCGTGCTGCCGAGCAGGTGTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18977	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													35.0	38.0	37.0					15																	74487715		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.525C>T	15.37:g.74487715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	NULL	p.L214	ENST00000323940.5	37	c.642	CCDS10261.1	15																																																																																			STRA6	-	NULL	ENSG00000137868		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	53	0.00	0	G			74487715	74487715	-1	no_errors	ENST00000563965	ensembl	human	known	69_37n	silent	24	28.57	10	SNP	0.002	A
STRA6	64220	genome.wustl.edu	37	15	74487715	74487715	+	Silent	SNP	G	G	A	rs563498564		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:74487715G>A	ENST00000323940.5	-	7	770	c.525C>T	c.(523-525)ctC>ctT	p.L175L	STRA6_ENST00000449139.2_Silent_p.L175L|STRA6_ENST00000423167.2_Silent_p.L166L|STRA6_ENST00000535552.1_Silent_p.L212L|STRA6_ENST00000432245.2_3'UTR|STRA6_ENST00000563965.1_Silent_p.L214L|STRA6_ENST00000574278.1_Silent_p.L190L|STRA6_ENST00000395105.4_Silent_p.L175L|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Silent_p.L167L	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	175					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GCGTGCTGCCGAGCAGGTGTG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18977	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													35.0	38.0	37.0					15																	74487715		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.525C>T	15.37:g.74487715G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	NULL	p.L214	ENST00000323940.5	37	c.642	CCDS10261.1	15																																																																																			STRA6	-	NULL	ENSG00000137868		0.627	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STRA6	HGNC	protein_coding	OTTHUMT00000272891.1	37	0.00	0	G			74487715	74487715	-1	no_errors	ENST00000563965	ensembl	human	known	69_37n	silent	24	28.57	10	SNP	0.002	A
SULT1C3	442038	genome.wustl.edu	37	2	108881454	108881454	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:108881454G>A	ENST00000329106.2	+	6	795	c.795G>A	c.(793-795)atG>atA	p.M265I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	265					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCCTTTTATGAGGAAAGGTA	0.408																																						dbGAP											0													128.0	112.0	118.0					2																	108881454		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.795G>A	2.37:g.108881454G>A	ENSP00000333310:p.Met265Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IMI5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M265I	ENST00000329106.2	37	c.795	CCDS33267.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225679	0.79576	.	.	ENSG00000196228	ENST00000329106	T	0.01505	4.82	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	T	0.03520	0.0101	L	0.41906	1.305	0.80722	D	1	P	0.40398	0.716	P	0.44623	0.455	T	0.59941	-0.7359	10	0.42905	T	0.14	.	17.2242	0.86965	0.0:0.0:1.0:0.0	.	265	Q6IMI6	ST1C3_HUMAN	I	265	ENSP00000333310:M265I	ENSP00000333310:M265I	M	+	3	0	SULT1C3	108247886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.200000	0.72118	2.534000	0.85438	0.655000	0.94253	ATG	SULT1C3	-	pfam_Sulfotransferase_dom	ENSG00000196228		0.408	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	29	0.00	0	G	NM_001008743		108881454	108881454	+1	no_errors	ENST00000329106	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	A
SULT1C3	442038	genome.wustl.edu	37	2	108881454	108881454	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:108881454G>A	ENST00000329106.2	+	6	795	c.795G>A	c.(793-795)atG>atA	p.M265I		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	265					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCCTTTTATGAGGAAAGGTA	0.408																																						dbGAP											0													128.0	112.0	118.0					2																	108881454		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.795G>A	2.37:g.108881454G>A	ENSP00000333310:p.Met265Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IMI5	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.M265I	ENST00000329106.2	37	c.795	CCDS33267.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.225679	0.79576	.	.	ENSG00000196228	ENST00000329106	T	0.01505	4.82	4.9	4.9	0.64082	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	T	0.03520	0.0101	L	0.41906	1.305	0.80722	D	1	P	0.40398	0.716	P	0.44623	0.455	T	0.59941	-0.7359	10	0.42905	T	0.14	.	17.2242	0.86965	0.0:0.0:1.0:0.0	.	265	Q6IMI6	ST1C3_HUMAN	I	265	ENSP00000333310:M265I	ENSP00000333310:M265I	M	+	3	0	SULT1C3	108247886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.200000	0.72118	2.534000	0.85438	0.655000	0.94253	ATG	SULT1C3	-	pfam_Sulfotransferase_dom	ENSG00000196228		0.408	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULT1C3	HGNC	protein_coding	OTTHUMT00000330255.1	27	0.00	0	G	NM_001008743		108881454	108881454	+1	no_errors	ENST00000329106	ensembl	human	known	69_37n	missense	24	14.29	4	SNP	1.000	A
SUZ12	23512	genome.wustl.edu	37	17	30274681	30274681	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:30274681G>C	ENST00000322652.5	+	4	661	c.432G>C	c.(430-432)atG>atC	p.M144I	SUZ12_ENST00000580398.1_Intron	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	144					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAGAGAAAATGAAAGGAGAGC	0.294			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													43.0	44.0	44.0					17																	30274681		2191	4288	6479	-	-	-	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.432G>C	17.37:g.30274681G>C	ENSP00000316578:p.Met144Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BD9	Missense_Mutation	SNP	pfam_Polycomb_protein_VEFS-Box	p.M144I	ENST00000322652.5	37	c.432	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095397	0.36952	.	.	ENSG00000178691	ENST00000322652	T	0.21031	2.03	4.61	4.61	0.57282	.	0.038942	0.85682	D	0.000000	T	0.19087	0.0458	L	0.42245	1.32	0.80722	D	1	B	0.22003	0.063	B	0.18871	0.023	T	0.03112	-1.1071	10	0.48119	T	0.1	-8.2991	11.9611	0.53009	0.0853:0.0:0.9147:0.0	.	144	Q15022	SUZ12_HUMAN	I	144	ENSP00000316578:M144I	ENSP00000316578:M144I	M	+	3	0	SUZ12	27298794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.721000	0.74728	2.104000	0.64026	0.536000	0.68110	ATG	SUZ12	-	NULL	ENSG00000178691		0.294	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	65	0.00	0	G	NM_015355		30274681	30274681	+1	no_errors	ENST00000322652	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	1.000	C
SUZ12	23512	genome.wustl.edu	37	17	30274681	30274681	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:30274681G>C	ENST00000322652.5	+	4	661	c.432G>C	c.(430-432)atG>atC	p.M144I	SUZ12_ENST00000580398.1_Intron	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	144					histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TAGAGAAAATGAAAGGAGAGC	0.294			T	JAZF1	endometrial stromal tumours																																	dbGAP		Dom	yes		17	17q11.2	23512	suppressor of zeste 12 homolog (Drosophila)		M	0													43.0	44.0	44.0					17																	30274681		2191	4288	6479	-	-	-	SO:0001583	missense	0			D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	ENST00000322652.5:c.432G>C	17.37:g.30274681G>C	ENSP00000316578:p.Met144Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96BD9	Missense_Mutation	SNP	pfam_Polycomb_protein_VEFS-Box	p.M144I	ENST00000322652.5	37	c.432	CCDS11270.1	17	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095397	0.36952	.	.	ENSG00000178691	ENST00000322652	T	0.21031	2.03	4.61	4.61	0.57282	.	0.038942	0.85682	D	0.000000	T	0.19087	0.0458	L	0.42245	1.32	0.80722	D	1	B	0.22003	0.063	B	0.18871	0.023	T	0.03112	-1.1071	10	0.48119	T	0.1	-8.2991	11.9611	0.53009	0.0853:0.0:0.9147:0.0	.	144	Q15022	SUZ12_HUMAN	I	144	ENSP00000316578:M144I	ENSP00000316578:M144I	M	+	3	0	SUZ12	27298794	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.721000	0.74728	2.104000	0.64026	0.536000	0.68110	ATG	SUZ12	-	NULL	ENSG00000178691		0.294	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUZ12	HGNC	protein_coding	OTTHUMT00000256260.2	50	0.00	0	G	NM_015355		30274681	30274681	+1	no_errors	ENST00000322652	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	1.000	C
SYT16	83851	genome.wustl.edu	37	14	62547604	62547604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:62547604C>G	ENST00000430451.2	+	4	1243	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.Q379E	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	349					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGCCCATCTCAAAGTGTGGT	0.507																																						dbGAP											0													22.0	23.0	22.0					14																	62547604		2008	4177	6185	-	-	-	SO:0001587	stop_gained	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1046C>G	14.37:g.62547604C>G	ENSP00000394700:p.Ser349*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S349*	ENST00000430451.2	37	c.1046	CCDS45121.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.928613|6.928613	0.97940|0.97940	.|.	.|.	ENSG00000139973|ENSG00000139973	ENST00000446982|ENST00000430451	T|.	0.32515|.	1.45|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.236737	.|0.35739	.|N	.|0.003020	T|.	0.55273|.	0.1910|.	.|.	.|.	.|.	0.23210|0.23210	N|N	0.998117|0.998117	P|.	0.41848|.	0.763|.	B|.	0.36608|.	0.229|.	T|.	0.53436|.	-0.8439|.	8|.	0.87932|0.59425	D|D	0|0.04	-19.1821|-19.1821	14.8665|14.8665	0.70419|0.70419	0.0:0.8161:0.1839:0.0|0.0:0.8161:0.1839:0.0	.|.	379|.	B4DZH2|.	.|.	E|X	379|349	ENSP00000388023:Q379E|.	ENSP00000388023:Q379E|ENSP00000394700:S349X	Q|S	+|+	1|2	0|0	SYT16|SYT16	61617357|61617357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.991000|3.991000	0.56973|0.56973	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CAA|TCA	SYT16	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000139973		0.507	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	48	0.00	0	C	NM_031914		62547604	62547604	+1	no_errors	ENST00000430451	ensembl	human	novel	69_37n	nonsense	28	24.32	9	SNP	1.000	G
SYT16	83851	genome.wustl.edu	37	14	62547604	62547604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:62547604C>G	ENST00000430451.2	+	4	1243	c.1046C>G	c.(1045-1047)tCa>tGa	p.S349*	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Missense_Mutation_p.Q379E	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	349					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGCCCATCTCAAAGTGTGGT	0.507																																						dbGAP											0													22.0	23.0	22.0					14																	62547604		2008	4177	6185	-	-	-	SO:0001587	stop_gained	0			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1046C>G	14.37:g.62547604C>G	ENSP00000394700:p.Ser349*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S349*	ENST00000430451.2	37	c.1046	CCDS45121.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.928613|6.928613	0.97940|0.97940	.|.	.|.	ENSG00000139973|ENSG00000139973	ENST00000446982|ENST00000430451	T|.	0.32515|.	1.45|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	.|0.236737	.|0.35739	.|N	.|0.003020	T|.	0.55273|.	0.1910|.	.|.	.|.	.|.	0.23210|0.23210	N|N	0.998117|0.998117	P|.	0.41848|.	0.763|.	B|.	0.36608|.	0.229|.	T|.	0.53436|.	-0.8439|.	8|.	0.87932|0.59425	D|D	0|0.04	-19.1821|-19.1821	14.8665|14.8665	0.70419|0.70419	0.0:0.8161:0.1839:0.0|0.0:0.8161:0.1839:0.0	.|.	379|.	B4DZH2|.	.|.	E|X	379|349	ENSP00000388023:Q379E|.	ENSP00000388023:Q379E|ENSP00000394700:S349X	Q|S	+|+	1|2	0|0	SYT16|SYT16	61617357|61617357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	3.991000|3.991000	0.56973|0.56973	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CAA|TCA	SYT16	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000139973		0.507	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	38	0.00	0	C	NM_031914		62547604	62547604	+1	no_errors	ENST00000430451	ensembl	human	novel	69_37n	nonsense	28	24.32	9	SNP	1.000	G
SYNE3	161176	genome.wustl.edu	37	14	95921859	95921859	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:95921859C>T	ENST00000334258.5	-	5	1006	c.992G>A	c.(991-993)gGa>gAa	p.G331E	SYNE3_ENST00000554873.1_Missense_Mutation_p.G88E|SYNE3_ENST00000557275.1_Missense_Mutation_p.G331E|SYNE3_ENST00000553340.1_Missense_Mutation_p.G331E	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	331					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTCCCAGGCTCCCCTGGACCG	0.642																																						dbGAP											0													46.0	53.0	50.0					14																	95921859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.992G>A	14.37:g.95921859C>T	ENSP00000334308:p.Gly331Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.G331E	ENST00000334258.5	37	c.992	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665938	0.29604	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.32988	3.59;1.43;3.59;3.01	4.99	1.12	0.20585	.	0.213498	0.23930	N	0.043141	T	0.28566	0.0707	M	0.67953	2.075	0.09310	N	1	P;P;P	0.52170	0.905;0.911;0.951	P;B;B	0.45610	0.487;0.392;0.421	T	0.31971	-0.9924	10	0.07644	T	0.81	-7.2265	8.8867	0.35406	0.0:0.5339:0.0:0.4661	.	331;331;331	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	E	331;88;331;331	ENSP00000334308:G331E;ENSP00000452154:G88E;ENSP00000450562:G331E;ENSP00000450774:G331E	ENSP00000334308:G331E	G	-	2	0	C14orf49	94991612	0.050000	0.20438	0.002000	0.10522	0.037000	0.13140	0.498000	0.22530	-0.062000	0.13088	0.455000	0.32223	GGA	SYNE3	-	NULL	ENSG00000176438		0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	47	0.00	0	C	NM_152592		95921859	95921859	-1	no_errors	ENST00000334258	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.000	T
SYNE3	161176	genome.wustl.edu	37	14	95921859	95921859	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:95921859C>T	ENST00000334258.5	-	5	1006	c.992G>A	c.(991-993)gGa>gAa	p.G331E	SYNE3_ENST00000554873.1_Missense_Mutation_p.G88E|SYNE3_ENST00000557275.1_Missense_Mutation_p.G331E|SYNE3_ENST00000553340.1_Missense_Mutation_p.G331E	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	331					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTCCCAGGCTCCCCTGGACCG	0.642																																						dbGAP											0													46.0	53.0	50.0					14																	95921859		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.992G>A	14.37:g.95921859C>T	ENSP00000334308:p.Gly331Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.G331E	ENST00000334258.5	37	c.992	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665938	0.29604	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.32988	3.59;1.43;3.59;3.01	4.99	1.12	0.20585	.	0.213498	0.23930	N	0.043141	T	0.28566	0.0707	M	0.67953	2.075	0.09310	N	1	P;P;P	0.52170	0.905;0.911;0.951	P;B;B	0.45610	0.487;0.392;0.421	T	0.31971	-0.9924	10	0.07644	T	0.81	-7.2265	8.8867	0.35406	0.0:0.5339:0.0:0.4661	.	331;331;331	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	E	331;88;331;331	ENSP00000334308:G331E;ENSP00000452154:G88E;ENSP00000450562:G331E;ENSP00000450774:G331E	ENSP00000334308:G331E	G	-	2	0	C14orf49	94991612	0.050000	0.20438	0.002000	0.10522	0.037000	0.13140	0.498000	0.22530	-0.062000	0.13088	0.455000	0.32223	GGA	SYNE3	-	NULL	ENSG00000176438		0.642	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	35	0.00	0	C	NM_152592		95921859	95921859	-1	no_errors	ENST00000334258	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.000	T
TAF1	6872	genome.wustl.edu	37	X	70586249	70586249	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:70586249G>A	ENST00000373790.4	+	1	136	c.85G>A	c.(85-87)Gat>Aat	p.D29N	TAF1_ENST00000423759.1_Missense_Mutation_p.D29N|TAF1_ENST00000449580.1_Missense_Mutation_p.D29N|TAF1_ENST00000276072.3_Missense_Mutation_p.D29N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	29	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCGACGAAGATTCCGCTGG	0.567																																						dbGAP											0													61.0	57.0	59.0					X																	70586249		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.85G>A	X.37:g.70586249G>A	ENSP00000362895:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D29N	ENST00000373790.4	37	c.85	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.83	3.229959	0.58777	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.11712	2.76;2.82;2.8;2.75	5.14	4.28	0.50868	TAFII-230 TBP-binding (2);	0.301114	0.35207	N	0.003368	T	0.11110	0.0271	L	0.39898	1.24	0.36719	D	0.881075	B;B	0.26708	0.157;0.13	B;B	0.31101	0.124;0.075	T	0.11012	-1.0605	10	0.48119	T	0.1	.	11.0799	0.48053	0.0902:0.0:0.9098:0.0	.	29;29	P21675;P21675-2	TAF1_HUMAN;.	N	29	ENSP00000362895:D29N;ENSP00000389000:D29N;ENSP00000406549:D29N;ENSP00000276072:D29N	ENSP00000276072:D29N	D	+	1	0	TAF1	70502974	1.000000	0.71417	0.946000	0.38457	0.891000	0.51852	8.816000	0.91979	1.095000	0.41419	0.447000	0.29281	GAT	TAF1	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd	ENSG00000147133		0.567	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	107	0.93	1	G	NM_004606		70586249	70586249	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70586249	70586249	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:70586249G>A	ENST00000373790.4	+	1	136	c.85G>A	c.(85-87)Gat>Aat	p.D29N	TAF1_ENST00000423759.1_Missense_Mutation_p.D29N|TAF1_ENST00000449580.1_Missense_Mutation_p.D29N|TAF1_ENST00000276072.3_Missense_Mutation_p.D29N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	29	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCGACGAAGATTCCGCTGG	0.567																																						dbGAP											0													61.0	57.0	59.0					X																	70586249		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.85G>A	X.37:g.70586249G>A	ENSP00000362895:p.Asp29Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D29N	ENST00000373790.4	37	c.85	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.83	3.229959	0.58777	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.11712	2.76;2.82;2.8;2.75	5.14	4.28	0.50868	TAFII-230 TBP-binding (2);	0.301114	0.35207	N	0.003368	T	0.11110	0.0271	L	0.39898	1.24	0.36719	D	0.881075	B;B	0.26708	0.157;0.13	B;B	0.31101	0.124;0.075	T	0.11012	-1.0605	10	0.48119	T	0.1	.	11.0799	0.48053	0.0902:0.0:0.9098:0.0	.	29;29	P21675;P21675-2	TAF1_HUMAN;.	N	29	ENSP00000362895:D29N;ENSP00000389000:D29N;ENSP00000406549:D29N;ENSP00000276072:D29N	ENSP00000276072:D29N	D	+	1	0	TAF1	70502974	1.000000	0.71417	0.946000	0.38457	0.891000	0.51852	8.816000	0.91979	1.095000	0.41419	0.447000	0.29281	GAT	TAF1	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd	ENSG00000147133		0.567	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	117	0.00	0	G	NM_004606		70586249	70586249	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	61	22.78	18	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70643863	70643863	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:70643863C>T	ENST00000373790.4	+	31	4663	c.4612C>T	c.(4612-4614)Cca>Tca	p.P1538S	TAF1_ENST00000423759.1_Missense_Mutation_p.P1559S|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.P1538S|TAF1_ENST00000276072.3_Missense_Mutation_p.P1559S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1538	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAATTTGTTCCAGATTATTA	0.338																																						dbGAP											0													93.0	83.0	86.0					X																	70643863		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4612C>T	X.37:g.70643863C>T	ENSP00000362895:p.Pro1538Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P1538S	ENST00000373790.4	37	c.4612	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	23.4	4.415760	0.83449	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.85	4.85	0.62838	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.83312	2.635	0.80722	D	1	D;D;D	0.59767	0.986;0.977;0.984	P;P;P	0.60789	0.879;0.839;0.664	T	0.78653	-0.2120	10	0.72032	D	0.01	.	17.4158	0.87499	0.0:1.0:0.0:0.0	.	1538;1538;1559	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	S	1538;1538;1559;244;244;1559	ENSP00000362895:P1538S;ENSP00000389000:P1538S;ENSP00000406549:P1559S;ENSP00000276072:P1559S	ENSP00000276072:P1559S	P	+	1	0	TAF1	70560588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.209000	0.77916	2.125000	0.65367	0.600000	0.82982	CCA	TAF1	-	pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000147133		0.338	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	42	0.00	0	C	NM_004606		70643863	70643863	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	T
TAF1	6872	genome.wustl.edu	37	X	70643863	70643863	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:70643863C>T	ENST00000373790.4	+	31	4663	c.4612C>T	c.(4612-4614)Cca>Tca	p.P1538S	TAF1_ENST00000423759.1_Missense_Mutation_p.P1559S|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000449580.1_Missense_Mutation_p.P1538S|TAF1_ENST00000276072.3_Missense_Mutation_p.P1559S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1538	Bromo 2. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAATTTGTTCCAGATTATTA	0.338																																						dbGAP											0													93.0	83.0	86.0					X																	70643863		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4612C>T	X.37:g.70643863C>T	ENSP00000362895:p.Pro1538Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.P1538S	ENST00000373790.4	37	c.4612	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	23.4	4.415760	0.83449	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.85	4.85	0.62838	Bromodomain (6);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	M	0.83312	2.635	0.80722	D	1	D;D;D	0.59767	0.986;0.977;0.984	P;P;P	0.60789	0.879;0.839;0.664	T	0.78653	-0.2120	10	0.72032	D	0.01	.	17.4158	0.87499	0.0:1.0:0.0:0.0	.	1538;1538;1559	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	S	1538;1538;1559;244;244;1559	ENSP00000362895:P1538S;ENSP00000389000:P1538S;ENSP00000406549:P1559S;ENSP00000276072:P1559S	ENSP00000276072:P1559S	P	+	1	0	TAF1	70560588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.209000	0.77916	2.125000	0.65367	0.600000	0.82982	CCA	TAF1	-	pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	ENSG00000147133		0.338	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	54	0.00	0	C	NM_004606		70643863	70643863	+1	no_errors	ENST00000449580	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	T
TAF5	6877	genome.wustl.edu	37	10	105147961	105147961	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:105147961G>C	ENST00000369839.3	+	11	2407	c.2384G>C	c.(2383-2385)gGa>gCa	p.G795A	TAF5_ENST00000351396.4_Missense_Mutation_p.G740A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	795					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTAGCTGCAGGAGCTTATAGT	0.368																																						dbGAP											0													84.0	83.0	84.0					10																	105147961		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2384G>C	10.37:g.105147961G>C	ENSP00000358854:p.Gly795Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G795A	ENST00000369839.3	37	c.2384	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684032	0.68157	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	D;D	0.81996	-1.56;-1.56	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.92265	0.5820	10	0.72032	D	0.01	-11.146	19.7664	0.96346	0.0:0.0:1.0:0.0	.	740;795	Q15542-2;Q15542	.;TAF5_HUMAN	A	795;740	ENSP00000358854:G795A;ENSP00000311024:G740A	ENSP00000311024:G740A	G	+	2	0	TAF5	105137951	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.459000	0.97638	2.671000	0.90904	0.557000	0.71058	GGA	TAF5	-	superfamily_WD40_repeat_dom	ENSG00000148835		0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	56	0.00	0	G			105147961	105147961	+1	no_errors	ENST00000369839	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	C
TAF5	6877	genome.wustl.edu	37	10	105147961	105147961	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:105147961G>C	ENST00000369839.3	+	11	2407	c.2384G>C	c.(2383-2385)gGa>gCa	p.G795A	TAF5_ENST00000351396.4_Missense_Mutation_p.G740A	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	795					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CTAGCTGCAGGAGCTTATAGT	0.368																																						dbGAP											0													84.0	83.0	84.0					10																	105147961		2203	4300	6503	-	-	-	SO:0001583	missense	0			X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.2384G>C	10.37:g.105147961G>C	ENSP00000358854:p.Gly795Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G795A	ENST00000369839.3	37	c.2384	CCDS7547.1	10	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684032	0.68157	.	.	ENSG00000148835	ENST00000369839;ENST00000351396	D;D	0.81996	-1.56;-1.56	5.67	5.67	0.87782	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91928	0.7444	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.92265	0.5820	10	0.72032	D	0.01	-11.146	19.7664	0.96346	0.0:0.0:1.0:0.0	.	740;795	Q15542-2;Q15542	.;TAF5_HUMAN	A	795;740	ENSP00000358854:G795A;ENSP00000311024:G740A	ENSP00000311024:G740A	G	+	2	0	TAF5	105137951	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	9.459000	0.97638	2.671000	0.90904	0.557000	0.71058	GGA	TAF5	-	superfamily_WD40_repeat_dom	ENSG00000148835		0.368	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5	HGNC	protein_coding	OTTHUMT00000050144.1	45	0.00	0	G			105147961	105147961	+1	no_errors	ENST00000369839	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	C
TAF5L	27097	genome.wustl.edu	37	1	229738235	229738235	+	Missense_Mutation	SNP	C	C	G	rs149237715	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:229738235C>G	ENST00000366676.1	-	3	678	c.679G>C	c.(679-681)Gac>Cac	p.D227H	TAF5L_ENST00000366675.3_Missense_Mutation_p.D227H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D227H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	227					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGCATGTCGGGGGGCTCC	0.557																																						dbGAP											0													75.0	76.0	76.0					1																	229738235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.679G>C	1.37:g.229738235C>G	ENSP00000355636:p.Asp227His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D227H	ENST00000366676.1	37	c.679	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833241	0.50951	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58940	0.3;0.3;0.84	5.79	5.79	0.91817	.	0.090538	0.85682	D	0.000000	T	0.48169	0.1485	N	0.17082	0.46	0.58432	D	0.999994	B;P	0.47677	0.013;0.899	B;B	0.44163	0.022;0.443	T	0.39961	-0.9588	9	.	.	.	-23.7082	20.0291	0.97531	0.0:1.0:0.0:0.0	.	227;227	O75529-2;O75529	.;TAF5L_HUMAN	H	227	ENSP00000355636:D227H;ENSP00000258281:D227H;ENSP00000355635:D227H	.	D	-	1	0	TAF5L	227804858	0.999000	0.42202	0.158000	0.22627	0.837000	0.47467	5.646000	0.67916	2.738000	0.93877	0.650000	0.86243	GAC	TAF5L	-	NULL	ENSG00000135801		0.557	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	48	0.00	0	C	NM_014409		229738235	229738235	-1	no_errors	ENST00000258281	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.997	G
TAF5L	27097	genome.wustl.edu	37	1	229738235	229738235	+	Missense_Mutation	SNP	C	C	G	rs149237715	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:229738235C>G	ENST00000366676.1	-	3	678	c.679G>C	c.(679-681)Gac>Cac	p.D227H	TAF5L_ENST00000366675.3_Missense_Mutation_p.D227H|TAF5L_ENST00000258281.2_Missense_Mutation_p.D227H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	227					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGGGCATGTCGGGGGGCTCC	0.557																																						dbGAP											0													75.0	76.0	76.0					1																	229738235		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.679G>C	1.37:g.229738235C>G	ENSP00000355636:p.Asp227His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D227H	ENST00000366676.1	37	c.679	CCDS1581.1	1	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833241	0.50951	.	.	ENSG00000135801	ENST00000366676;ENST00000258281;ENST00000366675	T;T;T	0.58940	0.3;0.3;0.84	5.79	5.79	0.91817	.	0.090538	0.85682	D	0.000000	T	0.48169	0.1485	N	0.17082	0.46	0.58432	D	0.999994	B;P	0.47677	0.013;0.899	B;B	0.44163	0.022;0.443	T	0.39961	-0.9588	9	.	.	.	-23.7082	20.0291	0.97531	0.0:1.0:0.0:0.0	.	227;227	O75529-2;O75529	.;TAF5L_HUMAN	H	227	ENSP00000355636:D227H;ENSP00000258281:D227H;ENSP00000355635:D227H	.	D	-	1	0	TAF5L	227804858	0.999000	0.42202	0.158000	0.22627	0.837000	0.47467	5.646000	0.67916	2.738000	0.93877	0.650000	0.86243	GAC	TAF5L	-	NULL	ENSG00000135801		0.557	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF5L	HGNC	protein_coding	OTTHUMT00000095229.1	57	0.00	0	C	NM_014409		229738235	229738235	-1	no_errors	ENST00000258281	ensembl	human	known	69_37n	missense	37	17.78	8	SNP	0.997	G
TARS2	80222	genome.wustl.edu	37	1	150461672	150461672	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:150461672G>C	ENST00000369064.3	+	3	421				TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTGCAGTTGGGAGGGAGACCT	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.387+109G>C	1.37:g.150461672G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_TGS,superfamily_TGS-like	p.E166Q	ENST00000369064.3	37	c.496	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	5.620	0.299092	0.10622	.	.	ENSG00000143374	ENST00000369053	.	.	.	4.71	0.7	0.18099	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	.	3.4893	0.07632	0.2891:0.0:0.5343:0.1766	.	.	.	.	Q	166	.	.	E	+	1	0	TARS2	148728296	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.563000	0.23547	-0.018000	0.14079	0.484000	0.47621	GAG	TARS2	-	NULL	ENSG00000143374		0.368	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	75	0.00	0	G	NM_025150		150461672	150461672	+1	no_errors	ENST00000369053	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	0.000	C
TARS2	80222	genome.wustl.edu	37	1	150461672	150461672	+	Intron	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:150461672G>C	ENST00000369064.3	+	3	421				TARS2_ENST00000606933.1_Intron|TARS2_ENST00000438568.2_Intron|TARS2_ENST00000369054.2_Intron	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)						gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TTGCAGTTGGGAGGGAGACCT	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.387+109G>C	1.37:g.150461672G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_TGS,superfamily_TGS-like	p.E166Q	ENST00000369064.3	37	c.496	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	5.620	0.299092	0.10622	.	.	ENSG00000143374	ENST00000369053	.	.	.	4.71	0.7	0.18099	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35425	-0.9789	4	.	.	.	.	3.4893	0.07632	0.2891:0.0:0.5343:0.1766	.	.	.	.	Q	166	.	.	E	+	1	0	TARS2	148728296	0.001000	0.12720	0.000000	0.03702	0.009000	0.06853	0.563000	0.23547	-0.018000	0.14079	0.484000	0.47621	GAG	TARS2	-	NULL	ENSG00000143374		0.368	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	62	0.00	0	G	NM_025150		150461672	150461672	+1	no_errors	ENST00000369053	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	0.000	C
TARBP1	6894	genome.wustl.edu	37	1	234529421	234529421	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:234529421G>A	ENST00000040877.1	-	27	4405	c.4406C>T	c.(4405-4407)tCg>tTg	p.S1469L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCGATGAGCGAGGCCACAAC	0.458																																						dbGAP											0													85.0	84.0	85.0					1																	234529421		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4406C>T	1.37:g.234529421G>A	ENSP00000040877:p.Ser1469Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.S1469L	ENST00000040877.1	37	c.4406	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626341	0.66901	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	4.66	4.66	0.58398	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76451	-0.2954	10	0.87932	D	0	-6.7413	17.7183	0.88344	0.0:0.0:1.0:0.0	.	1469	Q13395	TARB1_HUMAN	L	1469	ENSP00000040877:S1469L	ENSP00000040877:S1469L	S	-	2	0	TARBP1	232596044	1.000000	0.71417	0.992000	0.48379	0.049000	0.14656	9.016000	0.93645	2.405000	0.81733	0.650000	0.86243	TCG	TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.458	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	36	0.00	0	G	NM_005646		234529421	234529421	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	1.000	A
TARBP1	6894	genome.wustl.edu	37	1	234529421	234529421	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:234529421G>A	ENST00000040877.1	-	27	4405	c.4406C>T	c.(4405-4407)tCg>tTg	p.S1469L	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1469					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTCGATGAGCGAGGCCACAAC	0.458																																						dbGAP											0													85.0	84.0	85.0					1																	234529421		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.4406C>T	1.37:g.234529421G>A	ENSP00000040877:p.Ser1469Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.S1469L	ENST00000040877.1	37	c.4406	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626341	0.66901	.	.	ENSG00000059588	ENST00000040877	T	0.28454	1.61	4.66	4.66	0.58398	tRNA/rRNA methyltransferase, SpoU (1);	0.000000	0.64402	D	0.000001	T	0.65943	0.2740	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76451	-0.2954	10	0.87932	D	0	-6.7413	17.7183	0.88344	0.0:0.0:1.0:0.0	.	1469	Q13395	TARB1_HUMAN	L	1469	ENSP00000040877:S1469L	ENSP00000040877:S1469L	S	-	2	0	TARBP1	232596044	1.000000	0.71417	0.992000	0.48379	0.049000	0.14656	9.016000	0.93645	2.405000	0.81733	0.650000	0.86243	TCG	TARBP1	-	pfam_SpoU_MeTrfase	ENSG00000059588		0.458	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	39	0.00	0	G	NM_005646		234529421	234529421	-1	no_errors	ENST00000040877	ensembl	human	known	69_37n	missense	55	14.06	9	SNP	1.000	A
TBC1D10C	374403	genome.wustl.edu	37	11	67176587	67176587	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:67176587G>A	ENST00000542590.1	+	8	990	c.976G>A	c.(976-978)Gag>Aag	p.E326K	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.G261E|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.E326K			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	326					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTGCAGGAGGAGGCCTTCAT	0.682																																						dbGAP											0													20.0	20.0	20.0					11																	67176587		2197	4295	6492	-	-	-	SO:0001583	missense	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.976G>A	11.37:g.67176587G>A	ENSP00000443654:p.Glu326Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E326K	ENST00000542590.1	37	c.976	CCDS8162.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.322356|3.322356	0.60634|0.60634	.|.	.|.	ENSG00000175463|ENSG00000175463	ENST00000312390;ENST00000542590|ENST00000526387	T;T|.	0.06933|.	3.24;3.24|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Rab-GAP/TBC domain (1);|.	0.282660|.	0.25236|.	N|.	0.032123|.	T|T	0.64538|0.64538	0.2607|0.2607	L|L	0.48642|0.48642	1.525|1.525	0.51767|0.51767	D|D	0.999936|0.999936	B|D	0.21309|0.63046	0.054|0.992	B|P	0.20184|0.54544	0.028|0.755	T|T	0.64368|0.64368	-0.6424|-0.6424	10|8	0.62326|0.45353	D|T	0.03|0.12	.|.	17.3138|17.3138	0.87217|0.87217	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	326|261	Q8IV04|G3V1D6	TB10C_HUMAN|.	K|E	326|261	ENSP00000310193:E326K;ENSP00000443654:E326K|.	ENSP00000310193:E326K|ENSP00000435543:G261E	E|G	+|+	1|2	0|0	TBC1D10C|TBC1D10C	66933163|66933163	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.938000|0.938000	0.57974|0.57974	6.066000|6.066000	0.71185|0.71185	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GAG|GGA	TBC1D10C	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000175463		0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	120	0.00	0	G	NM_198517		67176587	67176587	+1	no_errors	ENST00000312390	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.992	A
TBC1D10C	374403	genome.wustl.edu	37	11	67176587	67176587	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:67176587G>A	ENST00000542590.1	+	8	990	c.976G>A	c.(976-978)Gag>Aag	p.E326K	TBC1D10C_ENST00000526387.1_Missense_Mutation_p.G261E|TBC1D10C_ENST00000312390.5_Missense_Mutation_p.E326K			Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	326					retrograde transport, endosome to Golgi (GO:0042147)	filopodium membrane (GO:0031527)|membrane (GO:0016020)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCTGCAGGAGGAGGCCTTCAT	0.682																																						dbGAP											0													20.0	20.0	20.0					11																	67176587		2197	4295	6492	-	-	-	SO:0001583	missense	0			BC035630	CCDS8162.1, CCDS58150.1	11q13.1	2013-07-09			ENSG00000175463	ENSG00000175463			24702	protein-coding gene	gene with protein product		610831				17230191, 20404108	Standard	NM_001256508		Approved	FLJ00332, Carabin, EPI64C	uc001ola.4	Q8IV04	OTTHUMG00000167139	ENST00000542590.1:c.976G>A	11.37:g.67176587G>A	ENSP00000443654:p.Glu326Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1D6	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E326K	ENST00000542590.1	37	c.976	CCDS8162.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.17|17.17	3.322356|3.322356	0.60634|0.60634	.|.	.|.	ENSG00000175463|ENSG00000175463	ENST00000312390;ENST00000542590|ENST00000526387	T;T|.	0.06933|.	3.24;3.24|.	5.04|5.04	5.04|5.04	0.67666|0.67666	Rab-GAP/TBC domain (1);|.	0.282660|.	0.25236|.	N|.	0.032123|.	T|T	0.64538|0.64538	0.2607|0.2607	L|L	0.48642|0.48642	1.525|1.525	0.51767|0.51767	D|D	0.999936|0.999936	B|D	0.21309|0.63046	0.054|0.992	B|P	0.20184|0.54544	0.028|0.755	T|T	0.64368|0.64368	-0.6424|-0.6424	10|8	0.62326|0.45353	D|T	0.03|0.12	.|.	17.3138|17.3138	0.87217|0.87217	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	326|261	Q8IV04|G3V1D6	TB10C_HUMAN|.	K|E	326|261	ENSP00000310193:E326K;ENSP00000443654:E326K|.	ENSP00000310193:E326K|ENSP00000435543:G261E	E|G	+|+	1|2	0|0	TBC1D10C|TBC1D10C	66933163|66933163	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.938000|0.938000	0.57974|0.57974	6.066000|6.066000	0.71185|0.71185	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	GAG|GGA	TBC1D10C	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000175463		0.682	TBC1D10C-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10C	HGNC	protein_coding	OTTHUMT00000395492.2	101	0.00	0	G	NM_198517		67176587	67176587	+1	no_errors	ENST00000312390	ensembl	human	known	69_37n	missense	35	32.69	17	SNP	0.992	A
TBC1D21	161514	genome.wustl.edu	37	15	74178433	74178433	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:74178433C>T	ENST00000300504.2	+	7	677	c.594C>T	c.(592-594)gtC>gtT	p.V198V	TBC1D21_ENST00000535547.2_Silent_p.V162V|TBC1D21_ENST00000562056.1_Silent_p.V161V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	198	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACAGCTGTGTCATCAACATTG	0.562																																						dbGAP											0													215.0	144.0	168.0					15																	74178433		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.594C>T	15.37:g.74178433C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V198	ENST00000300504.2	37	c.594	CCDS10252.1	15																																																																																			TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.562	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	67	0.00	0	C	NM_153356		74178433	74178433	+1	no_errors	ENST00000300504	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	1.000	T
TBC1D21	161514	genome.wustl.edu	37	15	74178433	74178433	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:74178433C>T	ENST00000300504.2	+	7	677	c.594C>T	c.(592-594)gtC>gtT	p.V198V	TBC1D21_ENST00000535547.2_Silent_p.V162V|TBC1D21_ENST00000562056.1_Silent_p.V161V	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	198	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						ACAGCTGTGTCATCAACATTG	0.562																																						dbGAP											0													215.0	144.0	168.0					15																	74178433		2198	4297	6495	-	-	-	SO:0001819	synonymous_variant	0			BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.594C>T	15.37:g.74178433C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6M2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V198	ENST00000300504.2	37	c.594	CCDS10252.1	15																																																																																			TBC1D21	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167139		0.562	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D21	HGNC	protein_coding	OTTHUMT00000268994.1	62	0.00	0	C	NM_153356		74178433	74178433	+1	no_errors	ENST00000300504	ensembl	human	known	69_37n	silent	31	20.51	8	SNP	1.000	T
TBC1D4	9882	genome.wustl.edu	37	13	75936434	75936434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr13:75936434C>A	ENST00000377636.3	-	2	1154	c.808G>T	c.(808-810)Gag>Tag	p.E270*	TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.E270*|TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.E270*|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	270					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCGTCAGCCTCCTCCGGCAGG	0.677																																						dbGAP											0													22.0	26.0	25.0					13																	75936434		2048	4185	6233	-	-	-	SO:0001587	stop_gained	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.808G>T	13.37:g.75936434C>A	ENSP00000366863:p.Glu270*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E270*	ENST00000377636.3	37	c.808	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.629654	0.98399	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.28	4.42	0.53409	.	2.573990	0.01612	N	0.022573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.8194	8.8152	0.34991	0.0:0.7684:0.1506:0.081	.	.	.	.	X	270	.	ENSP00000366852:E270X	E	-	1	0	TBC1D4	74834435	1.000000	0.71417	0.983000	0.44433	0.536000	0.34869	3.226000	0.51254	1.192000	0.43071	0.563000	0.77884	GAG	TBC1D4	-	smart_PTyr_interaction_dom	ENSG00000136111		0.677	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	67	0.00	0	C	NM_014832		75936434	75936434	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	nonsense	23	32.35	11	SNP	1.000	A
TBC1D4	9882	genome.wustl.edu	37	13	75936434	75936434	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr13:75936434C>A	ENST00000377636.3	-	2	1154	c.808G>T	c.(808-810)Gag>Tag	p.E270*	TBC1D4_ENST00000431480.2_Nonsense_Mutation_p.E270*|TBC1D4_ENST00000377625.2_Nonsense_Mutation_p.E270*|TBC1D4_ENST00000425511.1_5'UTR	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	270					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CCGTCAGCCTCCTCCGGCAGG	0.677																																						dbGAP											0													22.0	26.0	25.0					13																	75936434		2048	4185	6233	-	-	-	SO:0001587	stop_gained	0			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.808G>T	13.37:g.75936434C>A	ENSP00000366863:p.Glu270*	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Nonsense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.E270*	ENST00000377636.3	37	c.808	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	39	7.629654	0.98399	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625	.	.	.	5.28	4.42	0.53409	.	2.573990	0.01612	N	0.022573	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-3.8194	8.8152	0.34991	0.0:0.7684:0.1506:0.081	.	.	.	.	X	270	.	ENSP00000366852:E270X	E	-	1	0	TBC1D4	74834435	1.000000	0.71417	0.983000	0.44433	0.536000	0.34869	3.226000	0.51254	1.192000	0.43071	0.563000	0.77884	GAG	TBC1D4	-	smart_PTyr_interaction_dom	ENSG00000136111		0.677	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	HGNC	protein_coding	OTTHUMT00000045283.1	82	0.00	0	C	NM_014832		75936434	75936434	-1	no_errors	ENST00000377636	ensembl	human	known	69_37n	nonsense	23	32.35	11	SNP	1.000	A
TBR1	10716	genome.wustl.edu	37	2	162276718	162276718	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:162276718G>A	ENST00000389554.3	+	5	1457	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	TBR1_ENST00000410035.1_Silent_p.L93L|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	380					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TTACACAACTGAAAATAGATC	0.353																																						dbGAP											0													115.0	116.0	116.0					2																	162276718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1140G>A	2.37:g.162276718G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L380	ENST00000389554.3	37	c.1140	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000136535		0.353	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	73	0.00	0	G	NM_006593		162276718	162276718	+1	no_errors	ENST00000389554	ensembl	human	known	69_37n	silent	39	25.00	13	SNP	1.000	A
TBR1	10716	genome.wustl.edu	37	2	162276718	162276718	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:162276718G>A	ENST00000389554.3	+	5	1457	c.1140G>A	c.(1138-1140)ctG>ctA	p.L380L	TBR1_ENST00000410035.1_Silent_p.L93L|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	380					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TTACACAACTGAAAATAGATC	0.353																																						dbGAP											0													115.0	116.0	116.0					2																	162276718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1140G>A	2.37:g.162276718G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.L380	ENST00000389554.3	37	c.1140	CCDS33310.1	2																																																																																			TBR1	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000136535		0.353	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBR1	HGNC	protein_coding	OTTHUMT00000332845.1	78	0.00	0	G	NM_006593		162276718	162276718	+1	no_errors	ENST00000389554	ensembl	human	known	69_37n	silent	39	25.00	13	SNP	1.000	A
TCL6	27004	genome.wustl.edu	37	14	96129889	96129889	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr14:96129889C>G	ENST00000467865.1	+	0	297				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tTCATGCTATCTCAGTTCACC	0.537			T	TRA@	T-ALL																																	dbGAP		Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0													137.0	113.0	121.0					14																	96129889		2203	4300	6503	-	-	-			0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96129889C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.537	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	170	0.00	0	C	NM_012468		96129889	96129889	+1	no_errors	ENST00000352367	ensembl	human	known	69_37n	rna	92	25.20	31	SNP	0.000	G
TCL6	27004	genome.wustl.edu	37	14	96129889	96129889	+	RNA	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr14:96129889C>G	ENST00000467865.1	+	0	297				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		tTCATGCTATCTCAGTTCACC	0.537			T	TRA@	T-ALL																																	dbGAP		Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0													137.0	113.0	121.0					14																	96129889		2203	4300	6503	-	-	-			0			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96129889C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-	ENSG00000187621		0.537	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	163	0.00	0	C	NM_012468		96129889	96129889	+1	no_errors	ENST00000352367	ensembl	human	known	69_37n	rna	92	25.20	31	SNP	0.000	G
TGIF2LX	90316	genome.wustl.edu	37	X	89177796	89177796	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:89177796G>A	ENST00000561129.2	+	1	842	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E238K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E238*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAAGAAGCAAGAGCCTAATCC	0.478																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											43.0	45.0	44.0					X																	89177796		2185	4264	6449	-	-	-	SO:0001583	missense	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.712G>A	X.37:g.89177796G>A	ENSP00000453704:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E238K	ENST00000561129.2	37	c.712	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	G	3.969	-0.008808	0.07727	.	.	ENSG00000153779	ENST00000283891	T	0.63580	-0.05	3.11	-1.11	0.09840	.	.	.	.	.	T	0.54046	0.1834	M	0.73598	2.24	0.09310	N	1	B	0.26635	0.155	B	0.24155	0.051	T	0.44997	-0.9291	8	.	.	.	-14.2973	3.768	0.08630	0.2761:0.4032:0.3208:0.0	.	238	Q8IUE1	TF2LX_HUMAN	K	238	ENSP00000355119:E238K	.	E	+	1	0	TGIF2LX	89064452	0.010000	0.17322	0.000000	0.03702	0.007000	0.05969	0.125000	0.15749	-0.386000	0.07821	-0.577000	0.04142	GAG	TGIF2LX	-	NULL	ENSG00000153779		0.478	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	101	0.00	0	G	NM_138960		89177796	89177796	+1	no_errors	ENST00000283891	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	0.000	A
TGIF2LX	90316	genome.wustl.edu	37	X	89177796	89177796	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:89177796G>A	ENST00000561129.2	+	1	842	c.712G>A	c.(712-714)Gag>Aag	p.E238K	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E238K			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	238					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E238*(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GAAGAAGCAAGAGCCTAATCC	0.478																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											43.0	45.0	44.0					X																	89177796		2185	4264	6449	-	-	-	SO:0001583	missense	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.712G>A	X.37:g.89177796G>A	ENSP00000453704:p.Glu238Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E238K	ENST00000561129.2	37	c.712	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	G	3.969	-0.008808	0.07727	.	.	ENSG00000153779	ENST00000283891	T	0.63580	-0.05	3.11	-1.11	0.09840	.	.	.	.	.	T	0.54046	0.1834	M	0.73598	2.24	0.09310	N	1	B	0.26635	0.155	B	0.24155	0.051	T	0.44997	-0.9291	8	.	.	.	-14.2973	3.768	0.08630	0.2761:0.4032:0.3208:0.0	.	238	Q8IUE1	TF2LX_HUMAN	K	238	ENSP00000355119:E238K	.	E	+	1	0	TGIF2LX	89064452	0.010000	0.17322	0.000000	0.03702	0.007000	0.05969	0.125000	0.15749	-0.386000	0.07821	-0.577000	0.04142	GAG	TGIF2LX	-	NULL	ENSG00000153779		0.478	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	85	0.00	0	G	NM_138960		89177796	89177796	+1	no_errors	ENST00000283891	ensembl	human	known	69_37n	missense	52	26.76	19	SNP	0.000	A
THAP10	56906	genome.wustl.edu	37	15	71174841	71174841	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:71174841C>G	ENST00000249861.4	-	3	1238	c.726G>C	c.(724-726)caG>caC	p.Q242H	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACAAATCACTCTGTTCACTCT	0.368																																						dbGAP											0													189.0	184.0	186.0					15																	71174841		2199	4297	6496	-	-	-	SO:0001583	missense	0			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.726G>C	15.37:g.71174841C>G	ENSP00000249861:p.Gln242His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R0	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q242H	ENST00000249861.4	37	c.726	CCDS10237.1	15	.	.	.	.	.	.	.	.	.	.	C	2.308	-0.358671	0.05138	.	.	ENSG00000129028	ENST00000249861	.	.	.	3.05	-2.43	0.06522	.	.	.	.	.	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	8	0.27785	T	0.31	.	3.6383	0.08157	0.0:0.299:0.321:0.3801	.	242	Q9P2Z0	THA10_HUMAN	H	242	.	ENSP00000249861:Q242H	Q	-	3	2	THAP10	68961895	0.114000	0.22134	0.003000	0.11579	0.563000	0.35712	-0.454000	0.06770	-0.290000	0.09025	0.460000	0.39030	CAG	THAP10	-	NULL	ENSG00000129028		0.368	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP10	HGNC	protein_coding	OTTHUMT00000257242.2	78	0.00	0	C	NM_020147		71174841	71174841	-1	no_errors	ENST00000249861	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.047	G
THAP10	56906	genome.wustl.edu	37	15	71174841	71174841	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:71174841C>G	ENST00000249861.4	-	3	1238	c.726G>C	c.(724-726)caG>caC	p.Q242H	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						ACAAATCACTCTGTTCACTCT	0.368																																						dbGAP											0													189.0	184.0	186.0					15																	71174841		2199	4297	6496	-	-	-	SO:0001583	missense	0			AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.726G>C	15.37:g.71174841C>G	ENSP00000249861:p.Gln242His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8R0	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.Q242H	ENST00000249861.4	37	c.726	CCDS10237.1	15	.	.	.	.	.	.	.	.	.	.	C	2.308	-0.358671	0.05138	.	.	ENSG00000129028	ENST00000249861	.	.	.	3.05	-2.43	0.06522	.	.	.	.	.	T	0.17789	0.0427	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.22034	-1.0228	8	0.27785	T	0.31	.	3.6383	0.08157	0.0:0.299:0.321:0.3801	.	242	Q9P2Z0	THA10_HUMAN	H	242	.	ENSP00000249861:Q242H	Q	-	3	2	THAP10	68961895	0.114000	0.22134	0.003000	0.11579	0.563000	0.35712	-0.454000	0.06770	-0.290000	0.09025	0.460000	0.39030	CAG	THAP10	-	NULL	ENSG00000129028		0.368	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP10	HGNC	protein_coding	OTTHUMT00000257242.2	68	0.00	0	C	NM_020147		71174841	71174841	-1	no_errors	ENST00000249861	ensembl	human	known	69_37n	missense	46	16.36	9	SNP	0.047	G
THBS4	7060	genome.wustl.edu	37	5	79374729	79374729	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr5:79374729C>G	ENST00000350881.2	+	18	2455				THBS4_ENST00000511733.1_Intron|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4						behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGAACTCCCTCAACTCTCTCT	0.507																																						dbGAP											0													87.0	80.0	82.0					5																	79374729		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2266-15C>G	5.37:g.79374729C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	RNA	SNP	-	NULL	ENST00000350881.2	37	NULL	CCDS4049.1	5																																																																																			THBS4	-	-	ENSG00000113296		0.507	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	46	0.00	0	C			79374729	79374729	+1	no_errors	ENST00000504720	ensembl	human	known	69_37n	rna	20	39.39	13	SNP	0.000	G
THBS4	7060	genome.wustl.edu	37	5	79374729	79374729	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr5:79374729C>G	ENST00000350881.2	+	18	2455				THBS4_ENST00000511733.1_Intron|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4						behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGAACTCCCTCAACTCTCTCT	0.507																																						dbGAP											0													87.0	80.0	82.0					5																	79374729		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.2266-15C>G	5.37:g.79374729C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R909|Q86TG2	RNA	SNP	-	NULL	ENST00000350881.2	37	NULL	CCDS4049.1	5																																																																																			THBS4	-	-	ENSG00000113296		0.507	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS4	HGNC	protein_coding	OTTHUMT00000226977.1	60	0.00	0	C			79374729	79374729	+1	no_errors	ENST00000504720	ensembl	human	known	69_37n	rna	20	39.39	13	SNP	0.000	G
THSD4	79875	genome.wustl.edu	37	15	71952935	71952935	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:71952935G>A	ENST00000355327.3	+	8	1353	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.D47N|THSD4_ENST00000261862.6_Missense_Mutation_p.D407N			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	407					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGTGGAGGAGACAACACGGG	0.527																																						dbGAP											0													163.0	171.0	168.0					15																	71952935		2001	4179	6180	-	-	-	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1219G>A	15.37:g.71952935G>A	ENSP00000347484:p.Asp407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.D407N	ENST00000355327.3	37	c.1219	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453021	0.63290	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.63744	-0.06;-0.06;0.12	4.77	4.77	0.60923	.	0.701280	0.13490	N	0.384070	T	0.56514	0.1990	L	0.49256	1.55	0.35190	D	0.773311	P;B;B;B	0.34864	0.473;0.056;0.42;0.236	B;B;B;B	0.28465	0.069;0.014;0.09;0.069	T	0.67883	-0.5555	10	0.51188	T	0.08	.	15.6624	0.77197	0.0:0.0:1.0:0.0	.	47;47;407;407	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	N	407;407;47;47	ENSP00000347484:D407N;ENSP00000261862:D407N;ENSP00000350413:D47N	ENSP00000261862:D407N	D	+	1	0	THSD4	69739989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.453000	0.73488	2.362000	0.80069	0.655000	0.94253	GAC	THSD4	-	NULL	ENSG00000187720		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	74	0.00	0	G	NM_024817		71952935	71952935	+1	no_errors	ENST00000261862	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.998	A
THSD4	79875	genome.wustl.edu	37	15	71952935	71952935	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:71952935G>A	ENST00000355327.3	+	8	1353	c.1219G>A	c.(1219-1221)Gac>Aac	p.D407N	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.D47N|THSD4_ENST00000261862.6_Missense_Mutation_p.D407N			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	407					elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTGTGGAGGAGACAACACGGG	0.527																																						dbGAP											0													163.0	171.0	168.0					15																	71952935		2001	4179	6180	-	-	-	SO:0001583	missense	0			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.1219G>A	15.37:g.71952935G>A	ENSP00000347484:p.Asp407Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.D407N	ENST00000355327.3	37	c.1219	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	17.69	3.453021	0.63290	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769;ENST00000345002	T;T;T	0.63744	-0.06;-0.06;0.12	4.77	4.77	0.60923	.	0.701280	0.13490	N	0.384070	T	0.56514	0.1990	L	0.49256	1.55	0.35190	D	0.773311	P;B;B;B	0.34864	0.473;0.056;0.42;0.236	B;B;B;B	0.28465	0.069;0.014;0.09;0.069	T	0.67883	-0.5555	10	0.51188	T	0.08	.	15.6624	0.77197	0.0:0.0:1.0:0.0	.	47;47;407;407	B4E1J6;B4DR13;Q6ZMP0-2;Q6ZMP0	.;.;.;THSD4_HUMAN	N	407;407;47;47	ENSP00000347484:D407N;ENSP00000261862:D407N;ENSP00000350413:D47N	ENSP00000261862:D407N	D	+	1	0	THSD4	69739989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.453000	0.73488	2.362000	0.80069	0.655000	0.94253	GAC	THSD4	-	NULL	ENSG00000187720		0.527	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	56	0.00	0	G	NM_024817		71952935	71952935	+1	no_errors	ENST00000261862	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.998	A
TM2D1	83941	genome.wustl.edu	37	1	62146817	62146817	+	3'UTR	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:62146817C>G	ENST00000606498.1	-	0	869				TM2D1_ENST00000294613.5_3'UTR|TM2D1_ENST00000371180.2_3'UTR|TM2D1_ENST00000472989.1_5'Flank			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						AGCTATCTCTCATAGAGACAG	0.294																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.*225G>C	1.37:g.62146817C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDA8	RNA	SNP	-	NULL	ENST00000606498.1	37	NULL		1																																																																																			TM2D1	-	-	ENSG00000162604		0.294	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	HGNC	protein_coding	OTTHUMT00000470779.2	32	0.00	0	C	NM_032027		62146817	62146817	-1	no_errors	ENST00000472357	ensembl	human	known	69_37n	rna	27	18.18	6	SNP	0.888	G
TM2D1	83941	genome.wustl.edu	37	1	62146817	62146817	+	3'UTR	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:62146817C>G	ENST00000606498.1	-	0	869				TM2D1_ENST00000294613.5_3'UTR|TM2D1_ENST00000371180.2_3'UTR|TM2D1_ENST00000472989.1_5'Flank			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						AGCTATCTCTCATAGAGACAG	0.294																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.*225G>C	1.37:g.62146817C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDA8	RNA	SNP	-	NULL	ENST00000606498.1	37	NULL		1																																																																																			TM2D1	-	-	ENSG00000162604		0.294	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	HGNC	protein_coding	OTTHUMT00000470779.2	25	0.00	0	C	NM_032027		62146817	62146817	-1	no_errors	ENST00000472357	ensembl	human	known	69_37n	rna	27	18.18	6	SNP	0.888	G
TM6SF2	53345	genome.wustl.edu	37	19	19381207	19381207	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:19381207C>T	ENST00000389363.4	-	3	316	c.244G>A	c.(244-246)Gct>Act	p.A82T	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	82						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TCCTGAAGAGCGATGATGAGG	0.622																																						dbGAP											0													39.0	40.0	40.0					19																	19381207		2005	4179	6184	-	-	-	SO:0001583	missense	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.244G>A	19.37:g.19381207C>T	ENSP00000374014:p.Ala82Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.A82T	ENST00000389363.4	37	c.244	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950457	0.53186	.	.	ENSG00000213996	ENST00000389363;ENST00000431465;ENST00000269990	T	0.52983	0.64	5.31	1.67	0.24075	.	0.222920	0.22324	U	0.061553	T	0.44371	0.1290	M	0.75264	2.295	0.09310	N	0.999995	P	0.40144	0.704	B	0.34385	0.181	T	0.44697	-0.9311	10	0.72032	D	0.01	-4.4519	11.8481	0.52395	0.6508:0.3492:0.0:0.0	.	82	Q9BZW4	TM6S2_HUMAN	T	82	ENSP00000374014:A82T	ENSP00000269990:A82T	A	-	1	0	TM6SF2	19242207	1.000000	0.71417	0.024000	0.17045	0.191000	0.23601	2.713000	0.47194	0.534000	0.28695	0.505000	0.49811	GCT	TM6SF2	-	NULL	ENSG00000213996		0.622	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	71	0.00	0	C	NM_203510		19381207	19381207	-1	no_errors	ENST00000389363	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.183	T
TM6SF2	53345	genome.wustl.edu	37	19	19381207	19381207	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:19381207C>T	ENST00000389363.4	-	3	316	c.244G>A	c.(244-246)Gct>Act	p.A82T	AC138430.4_ENST00000586064.2_RNA|TM6SF2_ENST00000586107.1_Intron	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	82						integral component of membrane (GO:0016021)				breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			TCCTGAAGAGCGATGATGAGG	0.622																																						dbGAP											0													39.0	40.0	40.0					19																	19381207		2005	4179	6184	-	-	-	SO:0001583	missense	0			AF255923	CCDS42528.1	19p13.3-p12	2008-02-05							11861	protein-coding gene	gene with protein product		606563				11124529	Standard	NM_001001524		Approved	Lpr4	uc002nmd.1	Q9BZW4		ENST00000389363.4:c.244G>A	19.37:g.19381207C>T	ENSP00000374014:p.Ala82Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0IJ64	Missense_Mutation	SNP	pfam_Transmembrane_6/97	p.A82T	ENST00000389363.4	37	c.244	CCDS42528.1	19	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950457	0.53186	.	.	ENSG00000213996	ENST00000389363;ENST00000431465;ENST00000269990	T	0.52983	0.64	5.31	1.67	0.24075	.	0.222920	0.22324	U	0.061553	T	0.44371	0.1290	M	0.75264	2.295	0.09310	N	0.999995	P	0.40144	0.704	B	0.34385	0.181	T	0.44697	-0.9311	10	0.72032	D	0.01	-4.4519	11.8481	0.52395	0.6508:0.3492:0.0:0.0	.	82	Q9BZW4	TM6S2_HUMAN	T	82	ENSP00000374014:A82T	ENSP00000269990:A82T	A	-	1	0	TM6SF2	19242207	1.000000	0.71417	0.024000	0.17045	0.191000	0.23601	2.713000	0.47194	0.534000	0.28695	0.505000	0.49811	GCT	TM6SF2	-	NULL	ENSG00000213996		0.622	TM6SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM6SF2	HGNC	protein_coding	OTTHUMT00000460122.2	46	0.00	0	C	NM_203510		19381207	19381207	-1	no_errors	ENST00000389363	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	0.183	T
TMEM136	219902	genome.wustl.edu	37	11	120200956	120200956	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:120200956G>A	ENST00000375095.2	+	3	711	c.470G>A	c.(469-471)gGa>gAa	p.G157E	TMEM136_ENST00000314475.2_Missense_Mutation_p.G179E|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	157	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AGTTTCACTGGAGATGTAGTG	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.470G>A	11.37:g.120200956G>A	ENSP00000364236:p.Gly157Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.G179E	ENST00000375095.2	37	c.536	CCDS55793.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699961	0.88924	.	.	ENSG00000181264	ENST00000375095;ENST00000314475	D;D	0.84944	-1.92;-1.92	6.06	6.06	0.98353	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.89792	0.3969	10	0.36615	T	0.2	-28.635	20.6282	0.99521	0.0:0.0:1.0:0.0	.	179;157	Q6ZRR5-3;Q6ZRR5	.;TM136_HUMAN	E	157;179	ENSP00000364236:G157E;ENSP00000312672:G179E	ENSP00000312672:G179E	G	+	2	0	TMEM136	119706166	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.506000	0.81665	2.871000	0.98454	0.655000	0.94253	GGA	TMEM136	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000181264		0.517	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM136	HGNC	protein_coding	OTTHUMT00000388045.1	86	0.00	0	G	NM_174926		120200956	120200956	+1	no_errors	ENST00000314475	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	A
TMEM136	219902	genome.wustl.edu	37	11	120200956	120200956	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:120200956G>A	ENST00000375095.2	+	3	711	c.470G>A	c.(469-471)gGa>gAa	p.G157E	TMEM136_ENST00000314475.2_Missense_Mutation_p.G179E|TMEM136_ENST00000531346.1_3'UTR|TMEM136_ENST00000529187.1_Intron	NM_001198671.1|NM_001198672.1|NM_001198673.1|NM_001198674.1|NM_001198675.1	NP_001185600.1|NP_001185601.1|NP_001185602.1|NP_001185603.1|NP_001185604.1	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	157	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		AGTTTCACTGGAGATGTAGTG	0.517																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BC015232	CCDS8432.1, CCDS55792.1, CCDS55793.1	11q23.3	2006-11-24				ENSG00000181264			28280	protein-coding gene	gene with protein product						12477932	Standard	NM_174926		Approved	MGC17839	uc001pxj.3	Q6ZRR5		ENST00000375095.2:c.470G>A	11.37:g.120200956G>A	ENSP00000364236:p.Gly157Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DGQ4|B4E230|Q8IZ79	Missense_Mutation	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.G179E	ENST00000375095.2	37	c.536	CCDS55793.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699961	0.88924	.	.	ENSG00000181264	ENST00000375095;ENST00000314475	D;D	0.84944	-1.92;-1.92	6.06	6.06	0.98353	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.85682	D	0.000000	D	0.92133	0.7506	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	D	0.89792	0.3969	10	0.36615	T	0.2	-28.635	20.6282	0.99521	0.0:0.0:1.0:0.0	.	179;157	Q6ZRR5-3;Q6ZRR5	.;TM136_HUMAN	E	157;179	ENSP00000364236:G157E;ENSP00000312672:G179E	ENSP00000312672:G179E	G	+	2	0	TMEM136	119706166	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	7.506000	0.81665	2.871000	0.98454	0.655000	0.94253	GGA	TMEM136	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	ENSG00000181264		0.517	TMEM136-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TMEM136	HGNC	protein_coding	OTTHUMT00000388045.1	95	0.00	0	G	NM_174926		120200956	120200956	+1	no_errors	ENST00000314475	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	1.000	A
TMEM184B	25829	genome.wustl.edu	37	22	38642041	38642041	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr22:38642041G>T	ENST00000361906.3	-	3	466	c.258C>A	c.(256-258)ttC>ttA	p.F86L	TMEM184B_ENST00000361684.4_Missense_Mutation_p.F86L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	86						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGGGCACGATGAAGAGGATGC	0.602																																						dbGAP											0													128.0	98.0	108.0					22																	38642041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.258C>A	22.37:g.38642041G>T	ENSP00000355210:p.Phe86Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	pfam_Ost-alpha	p.F86L	ENST00000361906.3	37	c.258	CCDS13969.2	22	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824424	0.71143	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.37584	1.19;1.19;1.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.21373	0.66	0.80722	D	1	B	0.14805	0.011	B	0.24006	0.05	T	0.06092	-1.0846	10	0.25106	T	0.35	.	11.8465	0.52387	0.085:0.0:0.915:0.0	.	86	Q9Y519	T184B_HUMAN	L	86;86;20	ENSP00000355210:F86L;ENSP00000354441:F86L;ENSP00000385608:F20L	ENSP00000354441:F86L	F	-	3	2	TMEM184B	36971987	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.941000	0.87700	2.060000	0.61445	0.549000	0.68633	TTC	TMEM184B	-	pfam_Ost-alpha	ENSG00000198792		0.602	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	51	0.00	0	G	NM_012264		38642041	38642041	-1	no_errors	ENST00000361684	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
TMEM184B	25829	genome.wustl.edu	37	22	38642041	38642041	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr22:38642041G>T	ENST00000361906.3	-	3	466	c.258C>A	c.(256-258)ttC>ttA	p.F86L	TMEM184B_ENST00000361684.4_Missense_Mutation_p.F86L	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	86						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGGGCACGATGAAGAGGATGC	0.602																																						dbGAP											0													128.0	98.0	108.0					22																	38642041		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.258C>A	22.37:g.38642041G>T	ENSP00000355210:p.Phe86Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	pfam_Ost-alpha	p.F86L	ENST00000361906.3	37	c.258	CCDS13969.2	22	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824424	0.71143	.	.	ENSG00000198792	ENST00000361906;ENST00000361684;ENST00000403210	T;T;T	0.37584	1.19;1.19;1.19	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.21373	0.66	0.80722	D	1	B	0.14805	0.011	B	0.24006	0.05	T	0.06092	-1.0846	10	0.25106	T	0.35	.	11.8465	0.52387	0.085:0.0:0.915:0.0	.	86	Q9Y519	T184B_HUMAN	L	86;86;20	ENSP00000355210:F86L;ENSP00000354441:F86L;ENSP00000385608:F20L	ENSP00000354441:F86L	F	-	3	2	TMEM184B	36971987	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.941000	0.87700	2.060000	0.61445	0.549000	0.68633	TTC	TMEM184B	-	pfam_Ost-alpha	ENSG00000198792		0.602	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMEM184B	HGNC	protein_coding	OTTHUMT00000075445.4	25	0.00	0	G	NM_012264		38642041	38642041	-1	no_errors	ENST00000361684	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
TNFAIP6	7130	genome.wustl.edu	37	2	152220570	152220570	+	Nonsense_Mutation	SNP	C	C	T	rs373889474		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:152220570C>T	ENST00000243347.3	+	2	283	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	70	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AACTTACAAGCAGCTAGAGGC	0.433																																						dbGAP											0													59.0	58.0	58.0					2																	152220570		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.208C>T	2.37:g.152220570C>T	ENSP00000243347:p.Gln70*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI7|Q8WWI9	Nonsense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.Q70*	ENST00000243347.3	37	c.208	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.194722	0.97367	.	.	ENSG00000123610	ENST00000243347	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.1589	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000243347:Q70X	Q	+	1	0	TNFAIP6	151928816	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.175000	0.77632	2.769000	0.95229	0.650000	0.86243	CAG	TNFAIP6	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000123610		0.433	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	42	0.00	0	C	NM_007115		152220570	152220570	+1	no_errors	ENST00000243347	ensembl	human	known	69_37n	nonsense	23	25.81	8	SNP	1.000	T
TNFAIP6	7130	genome.wustl.edu	37	2	152220570	152220570	+	Nonsense_Mutation	SNP	C	C	T	rs373889474		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:152220570C>T	ENST00000243347.3	+	2	283	c.208C>T	c.(208-210)Cag>Tag	p.Q70*		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	70	Link. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AACTTACAAGCAGCTAGAGGC	0.433																																						dbGAP											0													59.0	58.0	58.0					2																	152220570		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.208C>T	2.37:g.152220570C>T	ENSP00000243347:p.Gln70*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI7|Q8WWI9	Nonsense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.Q70*	ENST00000243347.3	37	c.208	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.194722	0.97367	.	.	ENSG00000123610	ENST00000243347	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.1589	0.98128	0.0:1.0:0.0:0.0	.	.	.	.	X	70	.	ENSP00000243347:Q70X	Q	+	1	0	TNFAIP6	151928816	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.175000	0.77632	2.769000	0.95229	0.650000	0.86243	CAG	TNFAIP6	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link	ENSG00000123610		0.433	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	34	0.00	0	C	NM_007115		152220570	152220570	+1	no_errors	ENST00000243347	ensembl	human	known	69_37n	nonsense	23	25.81	8	SNP	1.000	T
TNRC6C	57690	genome.wustl.edu	37	17	76060963	76060963	+	Silent	SNP	G	G	A	rs558966347		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:76060963G>A	ENST00000588061.1	+	6	3283	c.2556G>A	c.(2554-2556)ccG>ccA	p.P852P	TNRC6C_ENST00000541771.1_Silent_p.P852P|TNRC6C_ENST00000301624.4_Silent_p.P852P|TNRC6C_ENST00000588847.1_Silent_p.P849P|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000544502.1_Silent_p.P849P|TNRC6C_ENST00000335749.4_Silent_p.P849P			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	852	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P852P(1)|p.P849P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGAGCCGCCGGTGGCATTTG	0.597																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											18.0	23.0	22.0					17																	76060963		1941	4155	6096	-	-	-	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2556G>A	17.37:g.76060963G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P849	ENST00000588061.1	37	c.2547	CCDS45798.1	17																																																																																			TNRC6C	-	pfam_Argonaute_hook_dom	ENSG00000078687		0.597	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	40	0.00	0	G	NM_018996		76060963	76060963	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	silent	18	35.71	10	SNP	0.000	A
TNRC6C	57690	genome.wustl.edu	37	17	76060963	76060963	+	Silent	SNP	G	G	A	rs558966347		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:76060963G>A	ENST00000588061.1	+	6	3283	c.2556G>A	c.(2554-2556)ccG>ccA	p.P852P	TNRC6C_ENST00000541771.1_Silent_p.P852P|TNRC6C_ENST00000301624.4_Silent_p.P852P|TNRC6C_ENST00000588847.1_Silent_p.P849P|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000544502.1_Silent_p.P849P|TNRC6C_ENST00000335749.4_Silent_p.P849P			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	852	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.P852P(1)|p.P849P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAGAGCCGCCGGTGGCATTTG	0.597																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)											18.0	23.0	22.0					17																	76060963		1941	4155	6096	-	-	-	SO:0001819	synonymous_variant	0			AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2556G>A	17.37:g.76060963G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Silent	SNP	pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.P849	ENST00000588061.1	37	c.2547	CCDS45798.1	17																																																																																			TNRC6C	-	pfam_Argonaute_hook_dom	ENSG00000078687		0.597	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TNRC6C	HGNC	protein_coding	OTTHUMT00000395947.1	31	0.00	0	G	NM_018996		76060963	76060963	+1	no_errors	ENST00000335749	ensembl	human	known	69_37n	silent	18	35.71	10	SNP	0.000	A
TOP1	7150	genome.wustl.edu	37	20	39750723	39750723	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:39750723G>A	ENST00000361337.2	+	20	2373	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	708					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GCCACAGACCGAGAGGAAAAT	0.473			T	NUP98	AML*																																	dbGAP		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													94.0	89.0	91.0					20																	39750723		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.2123G>A	20.37:g.39750723G>A	ENSP00000354522:p.Arg708Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI	p.R708Q	ENST00000361337.2	37	c.2123	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.453413	0.96223	.	.	ENSG00000198900	ENST00000361337	T	0.52754	0.65	5.91	5.91	0.95273	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);	0.105485	0.64402	D	0.000012	T	0.54663	0.1872	M	0.72118	2.19	0.80722	D	1	D	0.59767	0.986	B	0.43623	0.425	T	0.61926	-0.6962	10	0.72032	D	0.01	-5.0241	20.2985	0.98592	0.0:0.0:1.0:0.0	.	708	P11387	TOP1_HUMAN	Q	708	ENSP00000354522:R708Q	ENSP00000354522:R708Q	R	+	2	0	TOP1	39184137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.793000	0.96121	0.655000	0.94253	CGA	TOP1	-	superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk	ENSG00000198900		0.473	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	99	0.00	0	G			39750723	39750723	+1	no_errors	ENST00000361337	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	1.000	A
TOP1	7150	genome.wustl.edu	37	20	39750723	39750723	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:39750723G>A	ENST00000361337.2	+	20	2373	c.2123G>A	c.(2122-2124)cGa>cAa	p.R708Q	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	708					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	GCCACAGACCGAGAGGAAAAT	0.473			T	NUP98	AML*																																	dbGAP		Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													94.0	89.0	91.0					20																	39750723		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.2123G>A	20.37:g.39750723G>A	ENSP00000354522:p.Arg708Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk,prints_TopoI	p.R708Q	ENST00000361337.2	37	c.2123	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.453413	0.96223	.	.	ENSG00000198900	ENST00000361337	T	0.52754	0.65	5.91	5.91	0.95273	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha/beta subdomain, eukaryotic-type (1);DNA topoisomerases I, dispensable insert, eukaryotic-type (1);	0.105485	0.64402	D	0.000012	T	0.54663	0.1872	M	0.72118	2.19	0.80722	D	1	D	0.59767	0.986	B	0.43623	0.425	T	0.61926	-0.6962	10	0.72032	D	0.01	-5.0241	20.2985	0.98592	0.0:0.0:1.0:0.0	.	708	P11387	TOP1_HUMAN	Q	708	ENSP00000354522:R708Q	ENSP00000354522:R708Q	R	+	2	0	TOP1	39184137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.793000	0.96121	0.655000	0.94253	CGA	TOP1	-	superfamily_DNA_brk_join_enz,superfamily_TopoI_insert_euk,smart_TopoI_euk	ENSG00000198900		0.473	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2	72	0.00	0	G			39750723	39750723	+1	no_errors	ENST00000361337	ensembl	human	known	69_37n	missense	76	11.63	10	SNP	1.000	A
TOP3A	7156	genome.wustl.edu	37	17	18205711	18205711	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:18205711C>G	ENST00000321105.5	-	7	895	c.681G>C	c.(679-681)caG>caC	p.Q227H	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q132H|TOP3A_ENST00000540524.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	227					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAAAAATCCTCTGAAGCCGCA	0.542																																						dbGAP											0													40.0	45.0	43.0					17																	18205711		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.681G>C	17.37:g.18205711C>G	ENSP00000321636:p.Gln227His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.Q227H	ENST00000321105.5	37	c.681	CCDS11194.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.438159|2.438159	0.43326|0.43326	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.23552	.|1.9;2.92	6.07|6.07	5.1|5.1	0.69264|0.69264	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55784|0.55784	0.1942|0.1942	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.76575	.|0.981;0.988	T|T	0.64424|0.64424	-0.6411|-0.6411	5|10	.|0.87932	.|D	.|0	-26.7233|-26.7233	15.2543|15.2543	0.73573|0.73573	0.0:0.933:0.0:0.067|0.0:0.933:0.0:0.067	.|.	.|132;227	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	Q|H	207|227;132	.|ENSP00000321636:Q227H;ENSP00000442336:Q132H	.|ENSP00000321636:Q227H	E|Q	-|-	1|3	0|2	TOP3A|TOP3A	18146436|18146436	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	2.142000|2.142000	0.42177|0.42177	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	GAG|CAG	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000177302		0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	54	0.00	0	C			18205711	18205711	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	G
TOP3A	7156	genome.wustl.edu	37	17	18205711	18205711	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:18205711C>G	ENST00000321105.5	-	7	895	c.681G>C	c.(679-681)caG>caC	p.Q227H	TOP3A_ENST00000542570.1_Missense_Mutation_p.Q132H|TOP3A_ENST00000540524.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	227					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAAAAATCCTCTGAAGCCGCA	0.542																																						dbGAP											0													40.0	45.0	43.0					17																	18205711		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.681G>C	17.37:g.18205711C>G	ENSP00000321636:p.Gln227His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.Q227H	ENST00000321105.5	37	c.681	CCDS11194.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.11|14.11	2.438159|2.438159	0.43326|0.43326	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000412083|ENST00000321105;ENST00000542570	.|T;T	.|0.23552	.|1.9;2.92	6.07|6.07	5.1|5.1	0.69264|0.69264	.|DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55784|0.55784	0.1942|0.1942	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.997;0.999	.|D;D	.|0.76575	.|0.981;0.988	T|T	0.64424|0.64424	-0.6411|-0.6411	5|10	.|0.87932	.|D	.|0	-26.7233|-26.7233	15.2543|15.2543	0.73573|0.73573	0.0:0.933:0.0:0.067|0.0:0.933:0.0:0.067	.|.	.|132;227	.|B4DK80;Q13472	.|.;TOP3A_HUMAN	Q|H	207|227;132	.|ENSP00000321636:Q227H;ENSP00000442336:Q132H	.|ENSP00000321636:Q227H	E|Q	-|-	1|3	0|2	TOP3A|TOP3A	18146436|18146436	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	2.142000|2.142000	0.42177|0.42177	1.567000|1.567000	0.49668|0.49668	0.655000|0.655000	0.94253|0.94253	GAG|CAG	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000177302		0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	38	0.00	0	C			18205711	18205711	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	27	30.77	12	SNP	1.000	G
TOP3A	7156	genome.wustl.edu	37	17	18205912	18205912	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr17:18205912C>G	ENST00000321105.5	-	6	839	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E114Q|TOP3A_ENST00000540524.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	209					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGGTCCAGCTCCTGCCTCACA	0.542																																						dbGAP											0													113.0	96.0	102.0					17																	18205912		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.625G>C	17.37:g.18205912C>G	ENSP00000321636:p.Glu209Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.E209Q	ENST00000321105.5	37	c.625	CCDS11194.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470800|3.470800	0.63625|0.63625	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.23552|.	1.9;1.9|.	6.07|6.07	6.07|6.07	0.98685|0.98685	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86192|0.86192	0.5874|0.5874	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75484|.	0.986;0.986|.	D|D	0.87059|0.87059	0.2152|0.2152	10|5	0.72032|.	D|.	0.01|.	-39.0996|-39.0996	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	114;209|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	Q|A	209;114|188	ENSP00000321636:E209Q;ENSP00000442336:E114Q|.	ENSP00000321636:E209Q|.	E|G	-|-	1|2	0|0	TOP3A|TOP3A	18146637|18146637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.678000|7.678000	0.84035|0.84035	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|GGA	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000177302		0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	34	0.00	0	C			18205912	18205912	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	G
TOP3A	7156	genome.wustl.edu	37	17	18205912	18205912	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr17:18205912C>G	ENST00000321105.5	-	6	839	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	TOP3A_ENST00000542570.1_Missense_Mutation_p.E114Q|TOP3A_ENST00000540524.1_5'Flank	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	209					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AGGTCCAGCTCCTGCCTCACA	0.542																																						dbGAP											0													113.0	96.0	102.0					17																	18205912		2203	4300	6503	-	-	-	SO:0001583	missense	0			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.625G>C	17.37:g.18205912C>G	ENSP00000321636:p.Glu209Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.E209Q	ENST00000321105.5	37	c.625	CCDS11194.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.77|17.77	3.470800|3.470800	0.63625|0.63625	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105;ENST00000542570|ENST00000412083	T;T|.	0.23552|.	1.9;1.9|.	6.07|6.07	6.07|6.07	0.98685|0.98685	DNA topoisomerase, type IA, core domain (1);DNA topoisomerase, type IA, central (1);DNA topoisomerase, type IA, domain 2 (1);DNA topoisomerase, type IA, central region, subdomain 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86192|0.86192	0.5874|0.5874	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.75484|.	0.986;0.986|.	D|D	0.87059|0.87059	0.2152|0.2152	10|5	0.72032|.	D|.	0.01|.	-39.0996|-39.0996	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	114;209|.	B4DK80;Q13472|.	.;TOP3A_HUMAN|.	Q|A	209;114|188	ENSP00000321636:E209Q;ENSP00000442336:E114Q|.	ENSP00000321636:E209Q|.	E|G	-|-	1|2	0|0	TOP3A|TOP3A	18146637|18146637	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.678000|7.678000	0.84035|0.84035	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|GGA	TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2	ENSG00000177302		0.542	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	25	0.00	0	C			18205912	18205912	-1	no_errors	ENST00000321105	ensembl	human	known	69_37n	missense	17	26.09	6	SNP	1.000	G
TP53BP1	7158	genome.wustl.edu	37	15	43701232	43701232	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:43701232G>A	ENST00000263801.3	-	26	5700	c.5448C>T	c.(5446-5448)ttC>ttT	p.F1816F	TP53BP1_ENST00000450115.2_Silent_p.F1819F|TP53BP1_ENST00000382039.3_Silent_p.F1771F|TP53BP1_ENST00000382044.4_Silent_p.F1821F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1816	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAAGGCACAGGAAGTACTTCC	0.488								Other conserved DNA damage response genes																														dbGAP											0													163.0	125.0	137.0					15																	43701232		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5448C>T	15.37:g.43701232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	superfamily_BRCT_dom	p.S141F	ENST00000263801.3	37	c.422	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894108	0.17613	.	.	ENSG00000067369	ENST00000434595	.	.	.	5.35	3.48	0.39840	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53330	-0.8454	4	.	.	.	-10.4171	8.7394	0.34547	0.144:0.1328:0.7232:0.0	.	.	.	.	F	141	.	.	S	-	2	0	TP53BP1	41488524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.943000	0.40253	0.757000	0.33036	-0.140000	0.14226	TCC	TP53BP1	-	superfamily_BRCT_dom	ENSG00000067369		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	50	0.00	0	G			43701232	43701232	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434595	ensembl	human	novel	69_37n	missense	35	30.00	15	SNP	1.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43701232	43701232	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:43701232G>A	ENST00000263801.3	-	26	5700	c.5448C>T	c.(5446-5448)ttC>ttT	p.F1816F	TP53BP1_ENST00000450115.2_Silent_p.F1819F|TP53BP1_ENST00000382039.3_Silent_p.F1771F|TP53BP1_ENST00000382044.4_Silent_p.F1821F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1816	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAAGGCACAGGAAGTACTTCC	0.488								Other conserved DNA damage response genes																														dbGAP											0													163.0	125.0	137.0					15																	43701232		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.5448C>T	15.37:g.43701232G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	superfamily_BRCT_dom	p.S141F	ENST00000263801.3	37	c.422	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	G	8.633	0.894108	0.17613	.	.	ENSG00000067369	ENST00000434595	.	.	.	5.35	3.48	0.39840	.	.	.	.	.	T	0.58609	0.2134	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53330	-0.8454	4	.	.	.	-10.4171	8.7394	0.34547	0.144:0.1328:0.7232:0.0	.	.	.	.	F	141	.	.	S	-	2	0	TP53BP1	41488524	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.943000	0.40253	0.757000	0.33036	-0.140000	0.14226	TCC	TP53BP1	-	superfamily_BRCT_dom	ENSG00000067369		0.488	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	48	0.00	0	G			43701232	43701232	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000434595	ensembl	human	novel	69_37n	missense	35	30.00	15	SNP	1.000	A
CROT	54677	genome.wustl.edu	37	7	86974588	86974588	+	5'Flank	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:86974588C>T	ENST00000331536.3	+	0	0				TP53TG1_ENST00000359941.5_lincRNA|CROT_ENST00000442291.1_5'Flank|CROT_ENST00000412227.2_5'Flank|CROT_ENST00000419147.2_5'Flank	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTTAACCATCGCTTCCTGCA	0.607																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653		7.37:g.86974588C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	RNA	SNP	-	NULL	ENST00000331536.3	37	NULL	CCDS5604.1	7																																																																																			TP53TG1	-	-	ENSG00000182165		0.607	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG1	HGNC	protein_coding	OTTHUMT00000253485.1	57	0.00	0	C	NM_021151		86974588	86974588	-1	no_errors	ENST00000359941	ensembl	human	known	69_37n	rna	34	29.17	14	SNP	0.000	T
CROT	54677	genome.wustl.edu	37	7	86974588	86974588	+	5'Flank	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:86974588C>T	ENST00000331536.3	+	0	0				TP53TG1_ENST00000359941.5_lincRNA|CROT_ENST00000442291.1_5'Flank|CROT_ENST00000412227.2_5'Flank|CROT_ENST00000419147.2_5'Flank	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTTAACCATCGCTTCCTGCA	0.607																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653		7.37:g.86974588C>T	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	RNA	SNP	-	NULL	ENST00000331536.3	37	NULL	CCDS5604.1	7																																																																																			TP53TG1	-	-	ENSG00000182165		0.607	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53TG1	HGNC	protein_coding	OTTHUMT00000253485.1	46	0.00	0	C	NM_021151		86974588	86974588	-1	no_errors	ENST00000359941	ensembl	human	known	69_37n	rna	34	29.17	14	SNP	0.000	T
TRBV6-6	28601	genome.wustl.edu	37	7	142161990	142161990	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:142161990G>A	ENST00000390371.3	-	0	328									T cell receptor beta variable 6-6																		ACTCCAGCCTGAGCGGGAAAT	0.493																																						dbGAP											0													200.0	204.0	203.0					7																	142161990		1957	4135	6092	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142161990G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L95	ENST00000390371.3	37	c.285		7																																																																																			TRBV6-6	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211724		0.493	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV6-6	HGNC	TR_V_gene	OTTHUMT00000351215.2	106	0.00	0	G	NG_001333		142161990	142161990	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390371	ensembl	human	known	69_37n	silent	80	21.57	22	SNP	0.009	A
TRBV6-6	28601	genome.wustl.edu	37	7	142161990	142161990	+	RNA	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:142161990G>A	ENST00000390371.3	-	0	328									T cell receptor beta variable 6-6																		ACTCCAGCCTGAGCGGGAAAT	0.493																																						dbGAP											0													200.0	204.0	203.0					7																	142161990		1957	4135	6092	-	-	-			0			L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142161990G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L95	ENST00000390371.3	37	c.285		7																																																																																			TRBV6-6	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000211724		0.493	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV6-6	HGNC	TR_V_gene	OTTHUMT00000351215.2	101	0.00	0	G	NG_001333		142161990	142161990	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390371	ensembl	human	known	69_37n	silent	80	21.57	22	SNP	0.009	A
TRMT1	55621	genome.wustl.edu	37	19	13218430	13218430	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:13218430G>A	ENST00000592062.1	-	15	2111	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	TRMT1_ENST00000221504.8_Missense_Mutation_p.S485L|TRMT1_ENST00000357720.4_Missense_Mutation_p.S514L|TRMT1_ENST00000437766.1_Missense_Mutation_p.S514L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	514							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTAGTCTCTGATAGTCGCTC	0.602																																						dbGAP											0													67.0	41.0	50.0					19																	13218430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1541C>T	19.37:g.13218430G>A	ENSP00000466967:p.Ser514Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1	p.S514L	ENST00000592062.1	37	c.1541	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558629	0.27827	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.08102	3.13;3.13;3.13	4.01	4.01	0.46588	.	0.084489	0.49916	D	0.000126	T	0.11067	0.0270	L	0.51914	1.62	0.58432	D	0.999993	B;B	0.27882	0.151;0.192	B;B	0.33799	0.17;0.118	T	0.10800	-1.0614	10	0.33940	T	0.23	-10.6234	13.6652	0.62391	0.0:0.0:1.0:0.0	.	485;514	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	L	514;514;485	ENSP00000350352:S514L;ENSP00000416149:S514L;ENSP00000221504:S485L	ENSP00000221504:S485L	S	-	2	0	TRMT1	13079430	1.000000	0.71417	0.840000	0.33206	0.032000	0.12392	8.386000	0.90166	2.086000	0.62901	0.462000	0.41574	TCA	TRMT1	-	NULL	ENSG00000104907		0.602	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	63	0.00	0	G	NM_017722		13218430	13218430	-1	no_errors	ENST00000357720	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.992	A
TRMT1	55621	genome.wustl.edu	37	19	13218430	13218430	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:13218430G>A	ENST00000592062.1	-	15	2111	c.1541C>T	c.(1540-1542)tCa>tTa	p.S514L	TRMT1_ENST00000221504.8_Missense_Mutation_p.S485L|TRMT1_ENST00000357720.4_Missense_Mutation_p.S514L|TRMT1_ENST00000437766.1_Missense_Mutation_p.S514L			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	514							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GCTAGTCTCTGATAGTCGCTC	0.602																																						dbGAP											0													67.0	41.0	50.0					19																	13218430		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.1541C>T	19.37:g.13218430G>A	ENSP00000466967:p.Ser514Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_tRNA_MeTrfase_TRM1	p.S514L	ENST00000592062.1	37	c.1541	CCDS12293.1	19	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558629	0.27827	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	T;T;T	0.08102	3.13;3.13;3.13	4.01	4.01	0.46588	.	0.084489	0.49916	D	0.000126	T	0.11067	0.0270	L	0.51914	1.62	0.58432	D	0.999993	B;B	0.27882	0.151;0.192	B;B	0.33799	0.17;0.118	T	0.10800	-1.0614	10	0.33940	T	0.23	-10.6234	13.6652	0.62391	0.0:0.0:1.0:0.0	.	485;514	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	L	514;514;485	ENSP00000350352:S514L;ENSP00000416149:S514L;ENSP00000221504:S485L	ENSP00000221504:S485L	S	-	2	0	TRMT1	13079430	1.000000	0.71417	0.840000	0.33206	0.032000	0.12392	8.386000	0.90166	2.086000	0.62901	0.462000	0.41574	TCA	TRMT1	-	NULL	ENSG00000104907		0.602	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT1	HGNC	protein_coding	OTTHUMT00000452780.2	43	0.00	0	G	NM_017722		13218430	13218430	-1	no_errors	ENST00000357720	ensembl	human	known	69_37n	missense	29	23.68	9	SNP	0.992	A
TRMT13	54482	genome.wustl.edu	37	1	100613473	100613473	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:100613473G>A	ENST00000370141.2	+	10	847	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	281					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATGTTTGGTTGAAACCTATGC	0.348																																						dbGAP											0													57.0	60.0	59.0					1																	100613473		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.841G>A	1.37:g.100613473G>A	ENSP00000359160:p.Glu281Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E281K	ENST00000370141.2	37	c.841	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093252	0.56075	.	.	ENSG00000122435	ENST00000370141	T	0.44083	0.93	5.68	5.68	0.88126	Methyltransferase TRM13 (1);	0.048732	0.85682	D	0.000000	T	0.41419	0.1158	L	0.42245	1.32	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.08764	-1.0706	10	0.18276	T	0.48	-21.4973	15.2815	0.73787	0.0:0.1396:0.8604:0.0	.	281	Q9NUP7	TRM13_HUMAN	K	281	ENSP00000359160:E281K	ENSP00000359160:E281K	E	+	1	0	CCDC76	100386061	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.265000	0.72534	2.675000	0.91044	0.655000	0.94253	GAA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	18	0.00	0	G	NM_019083		100613473	100613473	+1	no_errors	ENST00000370141	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
TRMT13	54482	genome.wustl.edu	37	1	100613473	100613473	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:100613473G>A	ENST00000370141.2	+	10	847	c.841G>A	c.(841-843)Gaa>Aaa	p.E281K		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	281					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										ATGTTTGGTTGAAACCTATGC	0.348																																						dbGAP											0													57.0	60.0	59.0					1																	100613473		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.841G>A	1.37:g.100613473G>A	ENSP00000359160:p.Glu281Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVL0|Q9NW65	Missense_Mutation	SNP	pfam_Methyltransferase_TRM13,pfam_Znf_CCCH-type_TRM13,pfam_TRM13/UPF0224_CHHC_Znf_dom	p.E281K	ENST00000370141.2	37	c.841	CCDS765.1	1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093252	0.56075	.	.	ENSG00000122435	ENST00000370141	T	0.44083	0.93	5.68	5.68	0.88126	Methyltransferase TRM13 (1);	0.048732	0.85682	D	0.000000	T	0.41419	0.1158	L	0.42245	1.32	0.80722	D	1	D	0.63046	0.992	D	0.63283	0.913	T	0.08764	-1.0706	10	0.18276	T	0.48	-21.4973	15.2815	0.73787	0.0:0.1396:0.8604:0.0	.	281	Q9NUP7	TRM13_HUMAN	K	281	ENSP00000359160:E281K	ENSP00000359160:E281K	E	+	1	0	CCDC76	100386061	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	6.265000	0.72534	2.675000	0.91044	0.655000	0.94253	GAA	TRMT13	-	pfam_Methyltransferase_TRM13	ENSG00000122435		0.348	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT13	HGNC	protein_coding	OTTHUMT00000029919.1	24	0.00	0	G	NM_019083		100613473	100613473	+1	no_errors	ENST00000370141	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
TRPM3	80036	genome.wustl.edu	37	9	74061697	74061697	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr9:74061697C>T	ENST00000357533.2	-	1	54	c.55G>A	c.(55-57)Gag>Aag	p.E19K	TRPM3_ENST00000423814.3_Missense_Mutation_p.E19K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1623					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCGTTGTCCTCGCGGTCGGAG	0.667																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.55G>A	9.37:g.74061697C>T	ENSP00000350140:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E19K	ENST00000357533.2	37	c.55		9	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089970	0.55968	.	.	ENSG00000083067	ENST00000357533;ENST00000423814	T;T	0.57595	0.4;0.39	5.08	3.18	0.36537	.	0.230797	0.30649	N	0.009177	T	0.40595	0.1123	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	9	0.59425	D	0.04	-1.7244	7.9067	0.29765	0.0:0.7436:0.1656:0.0908	.	19	Q4VXD2	.	K	19	ENSP00000350140:E19K;ENSP00000389542:E19K	ENSP00000350140:E19K	E	-	1	0	TRPM3	73251517	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	5.555000	0.67301	1.099000	0.41499	0.561000	0.74099	GAG	TRPM3	-	NULL	ENSG00000083067		0.667	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214163.1	53	0.00	0	C	NM_206945		74061697	74061697	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
TRPM3	80036	genome.wustl.edu	37	9	74061697	74061697	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr9:74061697C>T	ENST00000357533.2	-	1	54	c.55G>A	c.(55-57)Gag>Aag	p.E19K	TRPM3_ENST00000423814.3_Missense_Mutation_p.E19K			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1623					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GCGTTGTCCTCGCGGTCGGAG	0.667																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000357533.2:c.55G>A	9.37:g.74061697C>T	ENSP00000350140:p.Glu19Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.E19K	ENST00000357533.2	37	c.55		9	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089970	0.55968	.	.	ENSG00000083067	ENST00000357533;ENST00000423814	T;T	0.57595	0.4;0.39	5.08	3.18	0.36537	.	0.230797	0.30649	N	0.009177	T	0.40595	0.1123	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	9	0.59425	D	0.04	-1.7244	7.9067	0.29765	0.0:0.7436:0.1656:0.0908	.	19	Q4VXD2	.	K	19	ENSP00000350140:E19K;ENSP00000389542:E19K	ENSP00000350140:E19K	E	-	1	0	TRPM3	73251517	1.000000	0.71417	0.997000	0.53966	0.918000	0.54935	5.555000	0.67301	1.099000	0.41499	0.561000	0.74099	GAG	TRPM3	-	NULL	ENSG00000083067		0.667	TRPM3-014	PUTATIVE	not_organism_supported|basic	protein_coding	TRPM3	HGNC	protein_coding	OTTHUMT00000214163.1	43	0.00	0	C	NM_206945		74061697	74061697	-1	no_errors	ENST00000423814	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
TSPAN12	23554	genome.wustl.edu	37	7	120496758	120496758	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:120496758G>A	ENST00000222747.3	-	2	667	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TSPAN12_ENST00000415871.1_Silent_p.L20L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	20					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTACCCAAAAGAGCAGATTGA	0.537																																						dbGAP											0													105.0	89.0	94.0					7																	120496758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.60C>T	7.37:g.120496758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L20	ENST00000222747.3	37	c.60	CCDS5777.1	7																																																																																			TSPAN12	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000106025		0.537	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN12	HGNC	protein_coding	OTTHUMT00000346951.1	63	0.00	0	G	NM_012338		120496758	120496758	-1	no_errors	ENST00000222747	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.987	A
TSPAN12	23554	genome.wustl.edu	37	7	120496758	120496758	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:120496758G>A	ENST00000222747.3	-	2	667	c.60C>T	c.(58-60)ctC>ctT	p.L20L	TSPAN12_ENST00000415871.1_Silent_p.L20L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	20					angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|regulation of angiogenesis (GO:0045765)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					TTACCCAAAAGAGCAGATTGA	0.537																																						dbGAP											0													105.0	89.0	94.0					7																	120496758		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF124522	CCDS5777.1	7q31.31	2013-02-14	2005-03-21	2005-03-21	ENSG00000106025	ENSG00000106025		"""Tetraspanins"""	21641	protein-coding gene	gene with protein product		613138	"""transmembrane 4 superfamily member 12"""	TM4SF12			Standard	NM_012338		Approved	NET-2	uc003vjk.3	O95859	OTTHUMG00000156980	ENST00000222747.3:c.60C>T	7.37:g.120496758G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A4D0V8|B4DRG6|Q549U9|Q8N5Y0	Silent	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.L20	ENST00000222747.3	37	c.60	CCDS5777.1	7																																																																																			TSPAN12	-	pfam_Tetraspanin/Peripherin,prints_Tetraspanin	ENSG00000106025		0.537	TSPAN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN12	HGNC	protein_coding	OTTHUMT00000346951.1	55	0.00	0	G	NM_012338		120496758	120496758	-1	no_errors	ENST00000222747	ensembl	human	known	69_37n	silent	30	14.29	5	SNP	0.987	A
TTC21B	79809	genome.wustl.edu	37	2	166731339	166731339	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:166731339G>A	ENST00000243344.7	-	29	4014	c.3877C>T	c.(3877-3879)Ctt>Ttt	p.L1293F	TTC21B_ENST00000536175.1_Missense_Mutation_p.L231F	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1293					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTGCTTCAAGAACCTGCAAA	0.313																																						dbGAP											0													62.0	62.0	62.0					2																	166731339		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3877C>T	2.37:g.166731339G>A	ENSP00000243344:p.Leu1293Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1293F	ENST00000243344.7	37	c.3877	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943096	0.73672	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.48522	0.81;0.81	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82604	-0.0375	10	0.72032	D	0.01	-17.0014	13.8805	0.63680	0.0728:0.0:0.9272:0.0	.	1293	Q7Z4L5	TT21B_HUMAN	F	231;1293	ENSP00000438692:L231F;ENSP00000243344:L1293F	ENSP00000243344:L1293F	L	-	1	0	TTC21B	166439585	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.712000	0.47186	2.650000	0.89964	0.650000	0.86243	CTT	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	34	0.00	0	G	NM_024753		166731339	166731339	-1	no_errors	ENST00000243344	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
TTC21B	79809	genome.wustl.edu	37	2	166731339	166731339	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:166731339G>A	ENST00000243344.7	-	29	4014	c.3877C>T	c.(3877-3879)Ctt>Ttt	p.L1293F	TTC21B_ENST00000536175.1_Missense_Mutation_p.L231F	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1293					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGTGCTTCAAGAACCTGCAAA	0.313																																						dbGAP											0													62.0	62.0	62.0					2																	166731339		2203	4297	6500	-	-	-	SO:0001583	missense	0			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3877C>T	2.37:g.166731339G>A	ENSP00000243344:p.Leu1293Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1293F	ENST00000243344.7	37	c.3877	CCDS33315.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943096	0.73672	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.48522	0.81;0.81	5.61	5.61	0.85477	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.76593	0.4009	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82604	-0.0375	10	0.72032	D	0.01	-17.0014	13.8805	0.63680	0.0728:0.0:0.9272:0.0	.	1293	Q7Z4L5	TT21B_HUMAN	F	231;1293	ENSP00000438692:L231F;ENSP00000243344:L1293F	ENSP00000243344:L1293F	L	-	1	0	TTC21B	166439585	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.712000	0.47186	2.650000	0.89964	0.650000	0.86243	CTT	TTC21B	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000123607		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	32	0.00	0	G	NM_024753		166731339	166731339	-1	no_errors	ENST00000243344	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
TTC9B	148014	genome.wustl.edu	37	19	40723221	40723221	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:40723221G>C	ENST00000311308.6	-	2	500	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGTACCTTGAGACAGTACT	0.657																																						dbGAP											0													98.0	71.0	80.0					19																	40723221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.483C>G	19.37:g.40723221G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0I5|Q96NP9	Silent	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L161	ENST00000311308.6	37	c.483	CCDS12550.1	19																																																																																			TTC9B	-	pfscan_TPR-contain_dom	ENSG00000174521		0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9B	HGNC	protein_coding	OTTHUMT00000462604.1	98	0.00	0	G	NM_152479		40723221	40723221	-1	no_errors	ENST00000311308	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	1.000	C
TTC9B	148014	genome.wustl.edu	37	19	40723221	40723221	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:40723221G>C	ENST00000311308.6	-	2	500	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	161					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						CCAGTACCTTGAGACAGTACT	0.657																																						dbGAP											0													98.0	71.0	80.0					19																	40723221		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.483C>G	19.37:g.40723221G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0I5|Q96NP9	Silent	SNP	pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L161	ENST00000311308.6	37	c.483	CCDS12550.1	19																																																																																			TTC9B	-	pfscan_TPR-contain_dom	ENSG00000174521		0.657	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC9B	HGNC	protein_coding	OTTHUMT00000462604.1	72	0.00	0	G	NM_152479		40723221	40723221	-1	no_errors	ENST00000311308	ensembl	human	known	69_37n	silent	38	28.30	15	SNP	1.000	C
TTLL2	83887	genome.wustl.edu	37	6	167754552	167754552	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:167754552C>T	ENST00000239587.5	+	3	1252	c.1164C>T	c.(1162-1164)aaC>aaT	p.N388N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	388	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGAGGTCAACTACAGCCCAG	0.403																																						dbGAP											0													158.0	165.0	163.0					6																	167754552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1164C>T	6.37:g.167754552C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	pfam_Tub_tyr_ligase	p.N388	ENST00000239587.5	37	c.1164	CCDS5301.1	6																																																																																			TTLL2	-	pfam_Tub_tyr_ligase	ENSG00000120440		0.403	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	66	0.00	0	C	NM_031949		167754552	167754552	+1	no_errors	ENST00000239587	ensembl	human	known	69_37n	silent	30	40.00	20	SNP	1.000	T
TTLL2	83887	genome.wustl.edu	37	6	167754552	167754552	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:167754552C>T	ENST00000239587.5	+	3	1252	c.1164C>T	c.(1162-1164)aaC>aaT	p.N388N		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	388	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TAGAGGTCAACTACAGCCCAG	0.403																																						dbGAP											0													158.0	165.0	163.0					6																	167754552		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1164C>T	6.37:g.167754552C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB11|B3KS77|Q7Z6R8|Q86X22	Silent	SNP	pfam_Tub_tyr_ligase	p.N388	ENST00000239587.5	37	c.1164	CCDS5301.1	6																																																																																			TTLL2	-	pfam_Tub_tyr_ligase	ENSG00000120440		0.403	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL2	HGNC	protein_coding	OTTHUMT00000043127.3	59	0.00	0	C	NM_031949		167754552	167754552	+1	no_errors	ENST00000239587	ensembl	human	known	69_37n	silent	30	40.00	20	SNP	1.000	T
TTLL7	79739	genome.wustl.edu	37	1	84386979	84386979	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:84386979G>A	ENST00000260505.8	-	11	1618	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	414					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCCCAGTCTGAGGAGCCTGG	0.418																																						dbGAP											0													80.0	83.0	82.0					1																	84386979		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1241C>T	1.37:g.84386979G>A	ENSP00000260505:p.Ser414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S414L	ENST00000260505.8	37	c.1241	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590786	0.86851	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04049	3.72	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.00912	-1.1517	10	0.44086	T	0.13	.	20.542	0.99273	0.0:0.0:1.0:0.0	.	414	Q6ZT98	TTLL7_HUMAN	L	414;191;414	ENSP00000260505:S414L	ENSP00000260505:S414L	S	-	2	0	TTLL7	84159567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.075000	0.94004	2.932000	0.99384	0.643000	0.83706	TCA	TTLL7	-	NULL	ENSG00000137941		0.418	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	102	0.00	0	G	NM_024686		84386979	84386979	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	1.000	A
TTLL7	79739	genome.wustl.edu	37	1	84386979	84386979	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:84386979G>A	ENST00000260505.8	-	11	1618	c.1241C>T	c.(1240-1242)tCa>tTa	p.S414L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	414					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCCCAGTCTGAGGAGCCTGG	0.418																																						dbGAP											0													80.0	83.0	82.0					1																	84386979		2203	4298	6501	-	-	-	SO:0001583	missense	0			AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1241C>T	1.37:g.84386979G>A	ENSP00000260505:p.Ser414Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S414L	ENST00000260505.8	37	c.1241	CCDS690.2	1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590786	0.86851	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.04049	3.72	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	M	0.64997	1.995	0.80722	D	1	D	0.71674	0.998	D	0.63877	0.919	T	0.00912	-1.1517	10	0.44086	T	0.13	.	20.542	0.99273	0.0:0.0:1.0:0.0	.	414	Q6ZT98	TTLL7_HUMAN	L	414;191;414	ENSP00000260505:S414L	ENSP00000260505:S414L	S	-	2	0	TTLL7	84159567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.075000	0.94004	2.932000	0.99384	0.643000	0.83706	TCA	TTLL7	-	NULL	ENSG00000137941		0.418	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL7	HGNC	protein_coding	OTTHUMT00000027498.1	103	0.00	0	G	NM_024686		84386979	84386979	-1	no_errors	ENST00000260505	ensembl	human	known	69_37n	missense	51	22.73	15	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179471903	179471903	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:179471903T>A	ENST00000591111.1	-	228	48727	c.48503A>T	c.(48502-48504)cAt>cTt	p.H16168L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H15241L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H8869L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H17809L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H8936L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8744L			Q8WZ42	TITIN_HUMAN	titin	16168	Fibronectin type-III 17. {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)			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)			TCTCCAAGTATGCATCTTGGC	0.388																																						dbGAP											0													234.0	222.0	225.0					2																	179471903		1881	4130	6011	-	-	-	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.48503A>T	2.37:g.179471903T>A	ENSP00000465570:p.His16168Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H15241L	ENST00000591111.1	37	c.45722		2	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231165	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	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	0.59224	0.2178	N	0.21282	0.65	0.58432	D	0.999997	D;D;D;D	0.69078	0.994;0.994;0.994;0.997	P;P;P;D	0.65233	0.882;0.882;0.882;0.933	T	0.64398	-0.6417	9	0.87932	D	0	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	8744;8869;8936;16168	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15241;8744;8936;8869;8744	ENSP00000343764:H15241L;ENSP00000434586:H8744L;ENSP00000340554:H8936L;ENSP00000352154:H8869L	ENSP00000340554:H8936L	H	-	2	0	TTN	179180148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.228000	0.72767	0.533000	0.62120	CAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	71	0.00	0	T	NM_133378		179471903	179471903	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179471903	179471903	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:179471903T>A	ENST00000591111.1	-	228	48727	c.48503A>T	c.(48502-48504)cAt>cTt	p.H16168L	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H15241L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H8869L|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H17809L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H8936L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H8744L			Q8WZ42	TITIN_HUMAN	titin	16168	Fibronectin type-III 17. {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)			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)			TCTCCAAGTATGCATCTTGGC	0.388																																						dbGAP											0													234.0	222.0	225.0					2																	179471903		1881	4130	6011	-	-	-	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.48503A>T	2.37:g.179471903T>A	ENSP00000465570:p.His16168Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H15241L	ENST00000591111.1	37	c.45722		2	.	.	.	.	.	.	.	.	.	.	T	13.42	2.231165	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	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	0.59224	0.2178	N	0.21282	0.65	0.58432	D	0.999997	D;D;D;D	0.69078	0.994;0.994;0.994;0.997	P;P;P;D	0.65233	0.882;0.882;0.882;0.933	T	0.64398	-0.6417	9	0.87932	D	0	.	16.2302	0.82332	0.0:0.0:0.0:1.0	.	8744;8869;8936;16168	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	15241;8744;8936;8869;8744	ENSP00000343764:H15241L;ENSP00000434586:H8744L;ENSP00000340554:H8936L;ENSP00000352154:H8869L	ENSP00000340554:H8936L	H	-	2	0	TTN	179180148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.991000	0.88244	2.228000	0.72767	0.533000	0.62120	CAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	70	0.00	0	T	NM_133378		179471903	179471903	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	47	11.32	6	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179505325	179505325	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:179505325C>T	ENST00000591111.1	-	171	35967	c.35743G>A	c.(35743-35745)Gag>Aag	p.E11915K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10988K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4616K|TTN_ENST00000589042.1_Missense_Mutation_p.E13556K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4683K|TTN_ENST00000460472.2_Missense_Mutation_p.E4491K			Q8WZ42	TITIN_HUMAN	titin	11915	Glu-rich.|Pro-rich.				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)			ACTTCAACCTCTTCAACAGGT	0.338																																						dbGAP											0													165.0	156.0	159.0					2																	179505325		1820	4078	5898	-	-	-	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.35743G>A	2.37:g.179505325C>T	ENSP00000465570:p.Glu11915Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E10988K	ENST00000591111.1	37	c.32962		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.851082|2.851082	0.51270|0.51270	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000429997;ENST00000446966|ENST00000426232	T;T;T;T|.	0.61980|.	0.06;0.21;0.19;0.18|.	4.46|4.46	4.46|4.46	0.54185|0.54185	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.46737|0.46737	0.1408|0.1408	L|L	0.32530|0.32530	0.975|0.975	0.28709|0.28709	N|N	0.903674|0.903674	P;P;P;P;D;D|.	0.76494|.	0.956;0.956;0.956;0.956;0.996;0.999|.	P;P;P;P;D;D|.	0.78314|.	0.899;0.899;0.899;0.899;0.987;0.991|.	T|T	0.40608|0.40608	-0.9554|-0.9554	9|5	0.87932|.	D|.	0|.	.|.	16.1951|16.1951	0.82021|0.82021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4491;4616;4683;11915;10682;343|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5;A2TKE4|.	.;.;.;TITIN_HUMAN;.;.|.	K|K	10988;4491;4683;4616;4491;877;343;343|210	ENSP00000343764:E10988K;ENSP00000434586:E4491K;ENSP00000340554:E4683K;ENSP00000352154:E4616K|.	ENSP00000340554:E4683K|.	E|R	-|-	1|2	0|0	TTN|TTN	179213570|179213570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.470000|0.470000	0.32858|0.32858	1.794000|1.794000	0.38774|0.38774	2.451000|2.451000	0.82905|0.82905	0.591000|0.591000	0.81541|0.81541	GAG|AGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	91	0.00	0	C	NM_133378		179505325	179505325	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	54	26.03	19	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179505325	179505325	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:179505325C>T	ENST00000591111.1	-	171	35967	c.35743G>A	c.(35743-35745)Gag>Aag	p.E11915K	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10988K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4616K|TTN_ENST00000589042.1_Missense_Mutation_p.E13556K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4683K|TTN_ENST00000460472.2_Missense_Mutation_p.E4491K			Q8WZ42	TITIN_HUMAN	titin	11915	Glu-rich.|Pro-rich.				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)			ACTTCAACCTCTTCAACAGGT	0.338																																						dbGAP											0													165.0	156.0	159.0					2																	179505325		1820	4078	5898	-	-	-	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.35743G>A	2.37:g.179505325C>T	ENSP00000465570:p.Glu11915Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	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.E10988K	ENST00000591111.1	37	c.32962		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.851082|2.851082	0.51270|0.51270	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000414766;ENST00000429997;ENST00000446966|ENST00000426232	T;T;T;T|.	0.61980|.	0.06;0.21;0.19;0.18|.	4.46|4.46	4.46|4.46	0.54185|0.54185	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.46737|0.46737	0.1408|0.1408	L|L	0.32530|0.32530	0.975|0.975	0.28709|0.28709	N|N	0.903674|0.903674	P;P;P;P;D;D|.	0.76494|.	0.956;0.956;0.956;0.956;0.996;0.999|.	P;P;P;P;D;D|.	0.78314|.	0.899;0.899;0.899;0.899;0.987;0.991|.	T|T	0.40608|0.40608	-0.9554|-0.9554	9|5	0.87932|.	D|.	0|.	.|.	16.1951|16.1951	0.82021|0.82021	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4491;4616;4683;11915;10682;343|.	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-5;A2TKE4|.	.;.;.;TITIN_HUMAN;.;.|.	K|K	10988;4491;4683;4616;4491;877;343;343|210	ENSP00000343764:E10988K;ENSP00000434586:E4491K;ENSP00000340554:E4683K;ENSP00000352154:E4616K|.	ENSP00000340554:E4683K|.	E|R	-|-	1|2	0|0	TTN|TTN	179213570|179213570	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.470000|0.470000	0.32858|0.32858	1.794000|1.794000	0.38774|0.38774	2.451000|2.451000	0.82905|0.82905	0.591000|0.591000	0.81541|0.81541	GAG|AGA	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.338	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	76	0.00	0	C	NM_133378		179505325	179505325	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	54	26.03	19	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179516000	179516000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:179516000G>A	ENST00000591111.1	-	163	35298	c.35074C>T	c.(35074-35076)Ccc>Tcc	p.P11692S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10765S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P13199S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11692	Glu-rich.|Pro-rich.				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)			GGCTTTTTGGGAACAGCTACT	0.363																																						dbGAP											0													148.0	141.0	143.0					2																	179516000		1858	4102	5960	-	-	-	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.35074C>T	2.37:g.179516000G>A	ENSP00000465570:p.Pro11692Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	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.P10765S	ENST00000591111.1	37	c.32293		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.479933|3.479933	0.63849|0.63849	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966|ENST00000426232	T;T|.	0.65178|.	-0.14;-0.14|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.80110|0.80110	0.4563|0.4563	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.81678|0.81678	-0.0824|-0.0824	9|5	0.87932|.	D|.	0|.	.|.	17.739|17.739	0.88402|0.88402	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	11692|.	Q8WZ42|.	TITIN_HUMAN|.	S|F	10765;38;38|39	ENSP00000343764:P10765S;ENSP00000408004:P38S|.	ENSP00000343764:P10765S|.	P|S	-|-	1|2	0|0	TTN|TTN	179224245|179224245	0.778000|0.778000	0.28640|0.28640	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.280000|1.280000	0.33202|0.33202	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCC|TCC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	31	0.00	0	G	NM_133378		179516000	179516000	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.996	A
TTN	7273	genome.wustl.edu	37	2	179516000	179516000	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:179516000G>A	ENST00000591111.1	-	163	35298	c.35074C>T	c.(35074-35076)Ccc>Tcc	p.P11692S	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10765S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P13199S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11692	Glu-rich.|Pro-rich.				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)			GGCTTTTTGGGAACAGCTACT	0.363																																						dbGAP											0													148.0	141.0	143.0					2																	179516000		1858	4102	5960	-	-	-	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.35074C>T	2.37:g.179516000G>A	ENSP00000465570:p.Pro11692Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	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.P10765S	ENST00000591111.1	37	c.32293		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.81|17.81	3.479933|3.479933	0.63849|0.63849	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000342992;ENST00000429997;ENST00000446966|ENST00000426232	T;T|.	0.65178|.	-0.14;-0.14|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);|.	.|.	.|.	.|.	.|.	T|T	0.80110|0.80110	0.4563|0.4563	M|M	0.84511|0.84511	2.7|2.7	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.81678|0.81678	-0.0824|-0.0824	9|5	0.87932|.	D|.	0|.	.|.	17.739|17.739	0.88402|0.88402	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	11692|.	Q8WZ42|.	TITIN_HUMAN|.	S|F	10765;38;38|39	ENSP00000343764:P10765S;ENSP00000408004:P38S|.	ENSP00000343764:P10765S|.	P|S	-|-	1|2	0|0	TTN|TTN	179224245|179224245	0.778000|0.778000	0.28640|0.28640	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	1.280000|1.280000	0.33202|0.33202	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	CCC|TCC	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	43	0.00	0	G	NM_133378		179516000	179516000	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	26	23.53	8	SNP	0.996	A
TULP1	7287	genome.wustl.edu	37	6	35479428	35479428	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:35479428C>T	ENST00000229771.6	-	4	425	c.346G>A	c.(346-348)Gac>Aac	p.D116N	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	116	Poly-Glu.				dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCACCGTCCTCCGCGTCT	0.687																																					GBM(55;1027 1091 11115 23439)	dbGAP											0													11.0	12.0	12.0					6																	35479428		2197	4291	6488	-	-	-	SO:0001583	missense	0			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.346G>A	6.37:g.35479428C>T	ENSP00000229771:p.Asp116Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.D116N	ENST00000229771.6	37	c.346	CCDS4807.1	6	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839850	0.51057	.	.	ENSG00000112041	ENST00000229771	T	0.80994	-1.44	4.36	4.36	0.52297	.	0.681226	0.11976	U	0.511290	T	0.57007	0.2024	L	0.40543	1.245	0.23563	N	0.997401	B	0.32245	0.361	B	0.25140	0.058	T	0.47861	-0.9084	10	0.25106	T	0.35	.	13.7429	0.62857	0.0:1.0:0.0:0.0	.	116	O00294	TULP1_HUMAN	N	116	ENSP00000229771:D116N	ENSP00000229771:D116N	D	-	1	0	TULP1	35587406	0.004000	0.15560	0.829000	0.32907	0.532000	0.34746	0.498000	0.22530	2.233000	0.73108	0.491000	0.48974	GAC	TULP1	-	NULL	ENSG00000112041		0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	89	0.00	0	C			35479428	35479428	-1	no_errors	ENST00000229771	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	0.843	T
TULP1	7287	genome.wustl.edu	37	6	35479428	35479428	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:35479428C>T	ENST00000229771.6	-	4	425	c.346G>A	c.(346-348)Gac>Aac	p.D116N	TULP1_ENST00000322263.4_Intron	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	116	Poly-Glu.				dendrite development (GO:0016358)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|phagocytosis (GO:0006909)|photoreceptor cell maintenance (GO:0045494)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|retina development in camera-type eye (GO:0060041)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|synapse (GO:0045202)	actin filament binding (GO:0051015)|G-protein coupled photoreceptor activity (GO:0008020)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CTCTCACCGTCCTCCGCGTCT	0.687																																					GBM(55;1027 1091 11115 23439)	dbGAP											0													11.0	12.0	12.0					6																	35479428		2197	4291	6488	-	-	-	SO:0001583	missense	0			U82468	CCDS4807.1, CCDS75436.1	6p21.3	2014-01-28			ENSG00000112041	ENSG00000112041			12423	protein-coding gene	gene with protein product		602280		RP14		9096357, 9521870	Standard	NM_003322		Approved	TUBL1, LCA15	uc003okv.4	O00294	OTTHUMG00000014575	ENST00000229771.6:c.346G>A	6.37:g.35479428C>T	ENSP00000229771:p.Asp116Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O43536|Q5TGM5|Q8N571	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C	p.D116N	ENST00000229771.6	37	c.346	CCDS4807.1	6	.	.	.	.	.	.	.	.	.	.	C	15.46	2.839850	0.51057	.	.	ENSG00000112041	ENST00000229771	T	0.80994	-1.44	4.36	4.36	0.52297	.	0.681226	0.11976	U	0.511290	T	0.57007	0.2024	L	0.40543	1.245	0.23563	N	0.997401	B	0.32245	0.361	B	0.25140	0.058	T	0.47861	-0.9084	10	0.25106	T	0.35	.	13.7429	0.62857	0.0:1.0:0.0:0.0	.	116	O00294	TULP1_HUMAN	N	116	ENSP00000229771:D116N	ENSP00000229771:D116N	D	-	1	0	TULP1	35587406	0.004000	0.15560	0.829000	0.32907	0.532000	0.34746	0.498000	0.22530	2.233000	0.73108	0.491000	0.48974	GAC	TULP1	-	NULL	ENSG00000112041		0.687	TULP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP1	HGNC	protein_coding	OTTHUMT00000040307.2	63	0.00	0	C			35479428	35479428	-1	no_errors	ENST00000229771	ensembl	human	known	69_37n	missense	55	15.38	10	SNP	0.843	T
UBC	7316	genome.wustl.edu	37	12	125397185	125397185	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:125397185C>G	ENST00000536769.1	-	1	2709	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.R302T|UBC_ENST00000339647.5_Missense_Mutation_p.R378T|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	378	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CATCCCACCTCTGAGACGGAG	0.517																																						dbGAP											0													223.0	210.0	215.0					12																	125397185		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1133G>C	12.37:g.125397185C>G	ENSP00000441543:p.Arg378Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.R378T	ENST00000536769.1	37	c.1133	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171407	0.57584	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	3.33	3.33	0.38152	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.50627	U	0.000118	D	0.86372	0.5917	M	0.91612	3.225	0.58432	D	0.999998	P;P;P	0.41008	0.735;0.689;0.485	P;P;B	0.58266	0.836;0.662;0.399	D	0.88096	0.2816	10	0.87932	D	0	.	10.0608	0.42273	0.0:1.0:0.0:0.0	.	467;378;378	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	T	378;378;302;378;302	ENSP00000441543:R378T;ENSP00000344818:R378T;ENSP00000438394:R302T	ENSP00000344818:R378T	R	-	2	0	UBC	123963138	0.001000	0.12720	0.968000	0.41197	0.974000	0.67602	0.795000	0.26972	1.699000	0.51192	0.550000	0.68814	AGA	UBC	-	pfam_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	125	0.00	0	C	NM_021009		125397185	125397185	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	1.000	G
UBC	7316	genome.wustl.edu	37	12	125397185	125397185	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:125397185C>G	ENST00000536769.1	-	1	2709	c.1133G>C	c.(1132-1134)aGa>aCa	p.R378T	UBC_ENST00000536661.1_5'Flank|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Missense_Mutation_p.R302T|UBC_ENST00000339647.5_Missense_Mutation_p.R378T|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	378	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CATCCCACCTCTGAGACGGAG	0.517																																						dbGAP											0													223.0	210.0	215.0					12																	125397185		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1133G>C	12.37:g.125397185C>G	ENSP00000441543:p.Arg378Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.R378T	ENST00000536769.1	37	c.1133	CCDS9260.1	12	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171407	0.57584	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T	0.75050	-0.9;-0.9;-0.9	3.33	3.33	0.38152	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.50627	U	0.000118	D	0.86372	0.5917	M	0.91612	3.225	0.58432	D	0.999998	P;P;P	0.41008	0.735;0.689;0.485	P;P;B	0.58266	0.836;0.662;0.399	D	0.88096	0.2816	10	0.87932	D	0	.	10.0608	0.42273	0.0:1.0:0.0:0.0	.	467;378;378	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	T	378;378;302;378;302	ENSP00000441543:R378T;ENSP00000344818:R378T;ENSP00000438394:R302T	ENSP00000344818:R378T	R	-	2	0	UBC	123963138	0.001000	0.12720	0.968000	0.41197	0.974000	0.67602	0.795000	0.26972	1.699000	0.51192	0.550000	0.68814	AGA	UBC	-	pfam_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.517	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400177.1	114	0.00	0	C	NM_021009		125397185	125397185	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	78	17.89	17	SNP	1.000	G
UBE2Q2	92912	genome.wustl.edu	37	15	76136509	76136509	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:76136509C>T	ENST00000267938.4	+	1	562				UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000561851.1_5'UTR|UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000338677.4_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGCCGCCCTCAGCCGGCCTG	0.741																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.180+322C>T	15.37:g.76136509C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	RNA	SNP	-	NULL	ENST00000267938.4	37	NULL	CCDS10286.1	15																																																																																			UBE2Q2	-	-	ENSG00000140367		0.741	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	10	0.00	0	C	NM_173469		76136509	76136509	+1	no_errors	ENST00000562635	ensembl	human	known	69_37n	rna	9	35.71	5	SNP	0.001	T
UBE2Q2	92912	genome.wustl.edu	37	15	76136509	76136509	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:76136509C>T	ENST00000267938.4	+	1	562				UBE2Q2_ENST00000569423.1_Intron|UBE2Q2_ENST00000561851.1_5'UTR|UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000338677.4_Intron	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2						protein K48-linked ubiquitination (GO:0070936)	cytoplasm (GO:0005737)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						TGGCCGCCCTCAGCCGGCCTG	0.741																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC017708	CCDS10286.1, CCDS45309.1, CCDS66839.1	15q24.2	2010-05-12	2008-05-02		ENSG00000140367	ENSG00000140367		"""Ubiquitin-conjugating enzymes E2"""	19248	protein-coding gene	gene with protein product		612501	"""ubiquitin-conjugating enzyme E2Q (putative) 2"""			16300736	Standard	NM_001145335		Approved	DKFZp762C143	uc002bbg.2	Q8WVN8	OTTHUMG00000142839	ENST00000267938.4:c.180+322C>T	15.37:g.76136509C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3Q2|H3BRG2|Q8N4G6|Q96J08	RNA	SNP	-	NULL	ENST00000267938.4	37	NULL	CCDS10286.1	15																																																																																			UBE2Q2	-	-	ENSG00000140367		0.741	UBE2Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q2	HGNC	protein_coding	OTTHUMT00000286475.1	9	0.00	0	C	NM_173469		76136509	76136509	+1	no_errors	ENST00000562635	ensembl	human	known	69_37n	rna	9	35.71	5	SNP	0.001	T
UBE2T	29089	genome.wustl.edu	37	1	202302593	202302593	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:202302593G>A	ENST00000367274.4	-	4	419	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	90					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						GTGGCAATTTGAGAACATCCA	0.368																																						dbGAP											0													62.0	62.0	62.0					1																	202302593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.270C>T	1.37:g.202302593G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TU36	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L90	ENST00000367274.4	37	c.270	CCDS1425.1	1																																																																																			UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000077152		0.368	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	28	0.00	0	G	NM_014176		202302593	202302593	-1	no_errors	ENST00000367274	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.998	A
UBE2T	29089	genome.wustl.edu	37	1	202302593	202302593	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:202302593G>A	ENST00000367274.4	-	4	419	c.270C>T	c.(268-270)ctC>ctT	p.L90L		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	90					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(3)|skin(1)	5						GTGGCAATTTGAGAACATCCA	0.368																																						dbGAP											0													62.0	62.0	62.0					1																	202302593		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF161499	CCDS1425.1	1q32.1	2008-02-05			ENSG00000077152	ENSG00000077152		"""Ubiquitin-conjugating enzymes E2"""	25009	protein-coding gene	gene with protein product		610538				11042152	Standard	NM_014176		Approved	HSPC150	uc001gxx.4	Q9NPD8	OTTHUMG00000041392	ENST00000367274.4:c.270C>T	1.37:g.202302593G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TU36	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L90	ENST00000367274.4	37	c.270	CCDS1425.1	1																																																																																			UBE2T	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000077152		0.368	UBE2T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2T	HGNC	protein_coding	OTTHUMT00000099163.1	30	0.00	0	G	NM_014176		202302593	202302593	-1	no_errors	ENST00000367274	ensembl	human	known	69_37n	silent	27	28.95	11	SNP	0.998	A
EARS2	124454	genome.wustl.edu	37	16	23568432	23568432	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:23568432C>G	ENST00000563459.1	-	1	146				EARS2_ENST00000564501.1_Intron|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000563232.1_Intron|UBFD1_ENST00000567212.1_5'Flank|EARS2_ENST00000449606.1_Intron|UBFD1_ENST00000219638.4_Missense_Mutation_p.S14C|UBFD1_ENST00000395878.3_5'Flank			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CCCGCCCACTCTGACACCACC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.139+93G>C	16.37:g.23568432C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S14C	ENST00000563459.1	37	c.41	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449803	0.26074	.	.	ENSG00000103353	ENST00000219638	.	.	.	3.85	1.86	0.25419	.	3.072470	0.01064	N	0.004684	T	0.41259	0.1151	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36383	-0.9750	6	0.87932	D	0	.	5.4136	0.16361	0.0:0.6818:0.2059:0.1122	.	.	.	.	C	14	.	ENSP00000219638:S14C	S	+	2	0	UBFD1	23475933	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.005000	0.13129	0.610000	0.30035	0.551000	0.68910	TCT	UBFD1	-	NULL	ENSG00000103353		0.597	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	40	0.00	0	C	NM_133451		23568432	23568432	+1	no_errors	ENST00000219638	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.001	G
EARS2	124454	genome.wustl.edu	37	16	23568432	23568432	+	Intron	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:23568432C>G	ENST00000563459.1	-	1	146				EARS2_ENST00000564501.1_Intron|UBFD1_ENST00000567264.1_5'Flank|EARS2_ENST00000563232.1_Intron|UBFD1_ENST00000567212.1_5'Flank|EARS2_ENST00000449606.1_Intron|UBFD1_ENST00000219638.4_Missense_Mutation_p.S14C|UBFD1_ENST00000395878.3_5'Flank			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CCCGCCCACTCTGACACCACC	0.597																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.139+93G>C	16.37:g.23568432C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.S14C	ENST00000563459.1	37	c.41	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449803	0.26074	.	.	ENSG00000103353	ENST00000219638	.	.	.	3.85	1.86	0.25419	.	3.072470	0.01064	N	0.004684	T	0.41259	0.1151	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36383	-0.9750	6	0.87932	D	0	.	5.4136	0.16361	0.0:0.6818:0.2059:0.1122	.	.	.	.	C	14	.	ENSP00000219638:S14C	S	+	2	0	UBFD1	23475933	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	0.005000	0.13129	0.610000	0.30035	0.551000	0.68910	TCT	UBFD1	-	NULL	ENSG00000103353		0.597	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000434844.1	41	0.00	0	C	NM_133451		23568432	23568432	+1	no_errors	ENST00000219638	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.001	G
UGT1A1	54658	genome.wustl.edu	37	2	234669682	234669682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:234669682C>G	ENST00000608383.1	+	1	749	c.749C>G	c.(748-750)tCt>tGt	p.S250C	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S250C|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S250C			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	250					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTATTGAGCTCTGCATCTGTC	0.468																																						dbGAP											0													170.0	169.0	169.0					2																	234669682		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.749C>G	2.37:g.234669682C>G	ENSP00000476741:p.Ser250Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S250C	ENST00000608383.1	37	c.749	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684257	0.47991	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60672	0.17;0.17	5.55	-4.46	0.03536	.	.	.	.	.	T	0.57330	0.2046	L	0.41492	1.28	0.09310	N	1	D;B	0.69078	0.997;0.027	D;B	0.72075	0.976;0.033	T	0.51513	-0.8696	9	0.72032	D	0.01	.	2.1417	0.03777	0.5049:0.1449:0.085:0.2652	.	250;250	A6NJC3;P22309	.;UD11_HUMAN	C	250	ENSP00000304845:S250C;ENSP00000353593:S250C	ENSP00000304845:S250C	S	+	2	0	UGT1A1	234334421	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	0.479000	0.22228	-0.618000	0.05656	0.655000	0.94253	TCT	UGT1A1	-	pfam_UDP_glucos_trans	ENSG00000241635		0.468	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		101	0.00	0	C			234669682	234669682	+1	no_errors	ENST00000305208	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.000	G
UGT1A1	54658	genome.wustl.edu	37	2	234669682	234669682	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:234669682C>G	ENST00000608383.1	+	1	749	c.749C>G	c.(748-750)tCt>tGt	p.S250C	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000360418.3_Missense_Mutation_p.S250C|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.S250C			P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	250					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CTATTGAGCTCTGCATCTGTC	0.468																																						dbGAP											0													170.0	169.0	169.0					2																	234669682		2203	4300	6503	-	-	-	SO:0001583	missense	0			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000608383.1:c.749C>G	2.37:g.234669682C>G	ENSP00000476741:p.Ser250Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NJC3|B8K286	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.S250C	ENST00000608383.1	37	c.749	CCDS2510.1	2	.	.	.	.	.	.	.	.	.	.	C	14.94	2.684257	0.47991	.	.	ENSG00000241635	ENST00000305208;ENST00000360418	T;T	0.60672	0.17;0.17	5.55	-4.46	0.03536	.	.	.	.	.	T	0.57330	0.2046	L	0.41492	1.28	0.09310	N	1	D;B	0.69078	0.997;0.027	D;B	0.72075	0.976;0.033	T	0.51513	-0.8696	9	0.72032	D	0.01	.	2.1417	0.03777	0.5049:0.1449:0.085:0.2652	.	250;250	A6NJC3;P22309	.;UD11_HUMAN	C	250	ENSP00000304845:S250C;ENSP00000353593:S250C	ENSP00000304845:S250C	S	+	2	0	UGT1A1	234334421	0.000000	0.05858	0.000000	0.03702	0.693000	0.40251	0.479000	0.22228	-0.618000	0.05656	0.655000	0.94253	TCT	UGT1A1	-	pfam_UDP_glucos_trans	ENSG00000241635		0.468	UGT1A1-203	KNOWN	basic|CCDS	protein_coding	UGT1A1	HGNC	protein_coding		97	0.00	0	C			234669682	234669682	+1	no_errors	ENST00000305208	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	0.000	G
ULK1	8408	genome.wustl.edu	37	12	132396527	132396527	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr12:132396527C>T	ENST00000321867.4	+	13	1340	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	330	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCCTGGCCTCCCCGGCTGAC	0.642																																						dbGAP											0													52.0	48.0	49.0					12																	132396527		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.989C>T	12.37:g.132396527C>T	ENSP00000324560:p.Ser330Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S330F	ENST00000321867.4	37	c.989	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481356	0.63849	.	.	ENSG00000177169	ENST00000321867	T	0.71579	-0.58	4.87	4.87	0.63330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86757	0.1964	10	0.72032	D	0.01	-38.6263	17.5963	0.88013	0.0:1.0:0.0:0.0	.	330	O75385	ULK1_HUMAN	F	330	ENSP00000324560:S330F	ENSP00000324560:S330F	S	+	2	0	ULK1	130962480	0.937000	0.31787	0.308000	0.25141	0.126000	0.20510	3.595000	0.54016	2.245000	0.73994	0.561000	0.74099	TCC	ULK1	-	superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.642	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	60	0.00	0	C			132396527	132396527	+1	no_errors	ENST00000321867	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	T
ULK1	8408	genome.wustl.edu	37	12	132396527	132396527	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr12:132396527C>T	ENST00000321867.4	+	13	1340	c.989C>T	c.(988-990)tCc>tTc	p.S330F		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	330	Interaction with GABARAP and GABARAPL2.				autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACCCTGGCCTCCCCGGCTGAC	0.642																																						dbGAP											0													52.0	48.0	49.0					12																	132396527		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.989C>T	12.37:g.132396527C>T	ENSP00000324560:p.Ser330Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UQ28	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S330F	ENST00000321867.4	37	c.989	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481356	0.63849	.	.	ENSG00000177169	ENST00000321867	T	0.71579	-0.58	4.87	4.87	0.63330	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.84388	0.5461	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.86757	0.1964	10	0.72032	D	0.01	-38.6263	17.5963	0.88013	0.0:1.0:0.0:0.0	.	330	O75385	ULK1_HUMAN	F	330	ENSP00000324560:S330F	ENSP00000324560:S330F	S	+	2	0	ULK1	130962480	0.937000	0.31787	0.308000	0.25141	0.126000	0.20510	3.595000	0.54016	2.245000	0.73994	0.561000	0.74099	TCC	ULK1	-	superfamily_Kinase-like_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2	ENSG00000177169		0.642	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	HGNC	protein_coding	OTTHUMT00000397769.3	43	0.00	0	C			132396527	132396527	+1	no_errors	ENST00000321867	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	T
UMOD	7369	genome.wustl.edu	37	16	20362044	20362044	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:20362044G>A	ENST00000570689.1	-	2	162	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	UMOD_ENST00000396138.4_Silent_p.L55L|UMOD_ENST00000396134.2_Silent_p.L6L|UMOD_ENST00000424589.1_Silent_p.L6L|UMOD_ENST00000396142.2_Silent_p.L6L|UMOD_ENST00000302509.4_Silent_p.L6L			P07911	UROM_HUMAN	uromodulin	6					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATCCAAGTCAGAGATGGCTGC	0.502																																						dbGAP											0													191.0	151.0	164.0					16																	20362044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.16C>T	16.37:g.20362044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.L6	ENST00000570689.1	37	c.16	CCDS10583.1	16																																																																																			UMOD	-	NULL	ENSG00000169344		0.502	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	97	0.00	0	G			20362044	20362044	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	silent	97	11.01	12	SNP	0.001	A
UMOD	7369	genome.wustl.edu	37	16	20362044	20362044	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:20362044G>A	ENST00000570689.1	-	2	162	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	UMOD_ENST00000396138.4_Silent_p.L55L|UMOD_ENST00000396134.2_Silent_p.L6L|UMOD_ENST00000424589.1_Silent_p.L6L|UMOD_ENST00000396142.2_Silent_p.L6L|UMOD_ENST00000302509.4_Silent_p.L6L			P07911	UROM_HUMAN	uromodulin	6					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						ATCCAAGTCAGAGATGGCTGC	0.502																																						dbGAP											0													191.0	151.0	164.0					16																	20362044		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.16C>T	16.37:g.20362044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Zona_pellucida_Endoglin/CD105,pfscan_EG-like_dom,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.L6	ENST00000570689.1	37	c.16	CCDS10583.1	16																																																																																			UMOD	-	NULL	ENSG00000169344		0.502	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	UMOD	HGNC	protein_coding	OTTHUMT00000436862.1	78	0.00	0	G			20362044	20362044	-1	no_errors	ENST00000424589	ensembl	human	known	69_37n	silent	97	11.01	12	SNP	0.001	A
URB1	9875	genome.wustl.edu	37	21	33709459	33709459	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr21:33709459C>A	ENST00000382751.3	-	28	4744	c.4629G>T	c.(4627-4629)aaG>aaT	p.K1543N	URB1_ENST00000492603.1_5'Flank	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1543						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GAAGTAAAATCTTCTGATCTA	0.517																																						dbGAP											0													104.0	94.0	97.0					21																	33709459		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.4629G>T	21.37:g.33709459C>A	ENSP00000372199:p.Lys1543Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.K1543N	ENST00000382751.3	37	c.4629	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226872	0.58668	.	.	ENSG00000142207	ENST00000382751	T	0.34859	1.34	4.88	3.98	0.46160	.	0.095945	0.64402	D	0.000001	T	0.56891	0.2016	M	0.72479	2.2	0.52501	D	0.999954	D	0.89917	1.0	D	0.74348	0.983	T	0.57802	-0.7748	10	0.45353	T	0.12	-27.9811	13.4036	0.60898	0.0:0.9224:0.0:0.0776	.	1543	O60287	NPA1P_HUMAN	N	1543	ENSP00000372199:K1543N	ENSP00000372199:K1543N	K	-	3	2	URB1	32631330	0.999000	0.42202	0.998000	0.56505	0.691000	0.40173	0.731000	0.26058	1.012000	0.39366	0.561000	0.74099	AAG	URB1	-	NULL	ENSG00000142207		0.517	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	30	0.00	0	C			33709459	33709459	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
URB1	9875	genome.wustl.edu	37	21	33709459	33709459	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr21:33709459C>A	ENST00000382751.3	-	28	4744	c.4629G>T	c.(4627-4629)aaG>aaT	p.K1543N	URB1_ENST00000492603.1_5'Flank	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1543						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GAAGTAAAATCTTCTGATCTA	0.517																																						dbGAP											0													104.0	94.0	97.0					21																	33709459		692	1591	2283	-	-	-	SO:0001583	missense	0			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.4629G>T	21.37:g.33709459C>A	ENSP00000372199:p.Lys1543Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.K1543N	ENST00000382751.3	37	c.4629	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226872	0.58668	.	.	ENSG00000142207	ENST00000382751	T	0.34859	1.34	4.88	3.98	0.46160	.	0.095945	0.64402	D	0.000001	T	0.56891	0.2016	M	0.72479	2.2	0.52501	D	0.999954	D	0.89917	1.0	D	0.74348	0.983	T	0.57802	-0.7748	10	0.45353	T	0.12	-27.9811	13.4036	0.60898	0.0:0.9224:0.0:0.0776	.	1543	O60287	NPA1P_HUMAN	N	1543	ENSP00000372199:K1543N	ENSP00000372199:K1543N	K	-	3	2	URB1	32631330	0.999000	0.42202	0.998000	0.56505	0.691000	0.40173	0.731000	0.26058	1.012000	0.39366	0.561000	0.74099	AAG	URB1	-	NULL	ENSG00000142207		0.517	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	38	0.00	0	C			33709459	33709459	-1	no_errors	ENST00000382751	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
USB1	79650	genome.wustl.edu	37	16	58043924	58043924	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:58043924C>T	ENST00000563149.1	+	3	421	c.357C>T	c.(355-357)ttC>ttT	p.F119F	USB1_ENST00000561743.1_Silent_p.F68F|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000219281.3_Silent_p.F119F|USB1_ENST00000539737.2_Silent_p.F119F|USB1_ENST00000423271.3_Silent_p.F119F	NM_001204911.1	NP_001191840.1			U6 snRNA biogenesis 1																		TGAAGGTGTTCCACCTCAGCC	0.587																																						dbGAP											0													175.0	139.0	152.0					16																	58043924		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000563149.1:c.357C>T	16.37:g.58043924C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_UPF0406	p.F119	ENST00000563149.1	37	c.357		16																																																																																			USB1	-	pfam_UPF0406	ENSG00000103005		0.587	USB1-003	PUTATIVE	basic|exp_conf	protein_coding	USB1	HGNC	protein_coding	OTTHUMT00000429953.1	79	0.00	0	C	NM_024598		58043924	58043924	+1	no_errors	ENST00000219281	ensembl	human	known	69_37n	silent	33	19.51	8	SNP	1.000	T
USB1	79650	genome.wustl.edu	37	16	58043924	58043924	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:58043924C>T	ENST00000563149.1	+	3	421	c.357C>T	c.(355-357)ttC>ttT	p.F119F	USB1_ENST00000561743.1_Silent_p.F68F|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000219281.3_Silent_p.F119F|USB1_ENST00000539737.2_Silent_p.F119F|USB1_ENST00000423271.3_Silent_p.F119F	NM_001204911.1	NP_001191840.1			U6 snRNA biogenesis 1																		TGAAGGTGTTCCACCTCAGCC	0.587																																						dbGAP											0													175.0	139.0	152.0					16																	58043924		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK023216	CCDS10791.1, CCDS55997.1, CCDS55998.1	16q13	2014-09-17	2012-08-21	2012-08-21	ENSG00000103005	ENSG00000103005			25792	protein-coding gene	gene with protein product	"""HVSL motif containing 1"", ""poikiloderma with neutropenia"", ""U six biogenesis 1"", ""mutated in poikiloderma with neutropenia protein 1"""	613276	"""chromosome 16 open reading frame 57"""	C16orf57		20004881, 20503306, 22899009	Standard	NM_024598		Approved	FLJ13154, HVSL1, Mpn1	uc002emz.3	Q9BQ65	OTTHUMG00000133456	ENST00000563149.1:c.357C>T	16.37:g.58043924C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_UPF0406	p.F119	ENST00000563149.1	37	c.357		16																																																																																			USB1	-	pfam_UPF0406	ENSG00000103005		0.587	USB1-003	PUTATIVE	basic|exp_conf	protein_coding	USB1	HGNC	protein_coding	OTTHUMT00000429953.1	59	0.00	0	C	NM_024598		58043924	58043924	+1	no_errors	ENST00000219281	ensembl	human	known	69_37n	silent	33	19.51	8	SNP	1.000	T
VNN3	55350	genome.wustl.edu	37	6	133055625	133055625	+	Silent	SNP	C	C	A	rs143999004	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:133055625C>A	ENST00000414302.2	-	1	206	c.207G>T	c.(205-207)gcG>gcT	p.A69A	VNN3_ENST00000207771.3_Silent_p.A69A|VNN3_ENST00000425515.2_Silent_p.A69A|VNN3_ENST00000423615.2_Silent_p.A69A|VNN3_ENST00000392394.2_Silent_p.A69A|VNN3_ENST00000509351.1_Silent_p.A69A|VNN3_ENST00000367927.5_Silent_p.A69A|VNN3_ENST00000427187.2_Silent_p.A69A|VNN3_ENST00000450865.2_Silent_p.A69A|VNN3_ENST00000417437.2_Silent_p.A69A|VNN3_ENST00000519686.2_Silent_p.A69A|VNN3_ENST00000392393.3_Silent_p.A69A|VNN3_ENST00000275223.3_Silent_p.A69A			Q9NY84	VNN3_HUMAN	vanin 3	69	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ATACCTGCTTCGCTGCCAGCT	0.388																																						dbGAP											0													94.0	93.0	94.0					6																	133055625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000414302.2:c.207G>T	6.37:g.133055625C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.A69	ENST00000414302.2	37	c.207		6																																																																																			VNN3	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000093134		0.388	VNN3-008	KNOWN	NMD_exception|basic|exp_conf	protein_coding	VNN3	HGNC	protein_coding	OTTHUMT00000398413.1	52	0.00	0	C	NR_028290		133055625	133055625	-1	no_errors	ENST00000207771	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.047	A
VNN3	55350	genome.wustl.edu	37	6	133055625	133055625	+	Silent	SNP	C	C	A	rs143999004	byFrequency	TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:133055625C>A	ENST00000414302.2	-	1	206	c.207G>T	c.(205-207)gcG>gcT	p.A69A	VNN3_ENST00000207771.3_Silent_p.A69A|VNN3_ENST00000425515.2_Silent_p.A69A|VNN3_ENST00000423615.2_Silent_p.A69A|VNN3_ENST00000392394.2_Silent_p.A69A|VNN3_ENST00000509351.1_Silent_p.A69A|VNN3_ENST00000367927.5_Silent_p.A69A|VNN3_ENST00000427187.2_Silent_p.A69A|VNN3_ENST00000450865.2_Silent_p.A69A|VNN3_ENST00000417437.2_Silent_p.A69A|VNN3_ENST00000519686.2_Silent_p.A69A|VNN3_ENST00000392393.3_Silent_p.A69A|VNN3_ENST00000275223.3_Silent_p.A69A			Q9NY84	VNN3_HUMAN	vanin 3	69	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				nitrogen compound metabolic process (GO:0006807)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		ATACCTGCTTCGCTGCCAGCT	0.388																																						dbGAP											0													94.0	93.0	94.0					6																	133055625		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238982		6q23.2	2014-04-09	2010-11-15	2010-11-15	ENSG00000093134	ENSG00000093134	3.5.1.92	"""Vanins"""	16431	other	unknown		606592				10501839, 19932582, 19322213	Standard	NR_028290		Approved	HSA238982	uc010kfs.3	Q9NY84	OTTHUMG00000015589	ENST00000414302.2:c.207G>T	6.37:g.133055625C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2DFY0|B2DFY1|B2DFY3|B2DFY5|B2DFY6|B2DFY7|B2DFY8|Q3SX90|Q9BQY2	Silent	SNP	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	p.A69	ENST00000414302.2	37	c.207		6																																																																																			VNN3	-	pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase	ENSG00000093134		0.388	VNN3-008	KNOWN	NMD_exception|basic|exp_conf	protein_coding	VNN3	HGNC	protein_coding	OTTHUMT00000398413.1	54	0.00	0	C	NR_028290		133055625	133055625	-1	no_errors	ENST00000207771	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	0.047	A
UTRN	7402	genome.wustl.edu	37	6	145069573	145069573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:145069573G>T	ENST00000367545.3	+	54	8131	c.8131G>T	c.(8131-8133)Gag>Tag	p.E2711*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.E266*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2711					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAGGAGGCAGAGTCCGTGCG	0.498																																						dbGAP											0													86.0	83.0	84.0					6																	145069573		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8131G>T	6.37:g.145069573G>T	ENSP00000356515:p.Glu2711*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2711*	ENST00000367545.3	37	c.8131	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.257033	0.98168	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	.	.	.	5.62	5.62	0.85841	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	.	.	.	X	2711;266	.	ENSP00000356496:E266X	E	+	1	0	UTRN	145111266	1.000000	0.71417	0.988000	0.46212	0.574000	0.36063	9.476000	0.97823	2.637000	0.89404	0.563000	0.77884	GAG	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	36	0.00	0	G			145069573	145069573	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	nonsense	9	52.63	10	SNP	1.000	T
UTRN	7402	genome.wustl.edu	37	6	145069573	145069573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:145069573G>T	ENST00000367545.3	+	54	8131	c.8131G>T	c.(8131-8133)Gag>Tag	p.E2711*	UTRN_ENST00000367526.4_Nonsense_Mutation_p.E266*	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2711					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAGGAGGCAGAGTCCGTGCG	0.498																																						dbGAP											0													86.0	83.0	84.0					6																	145069573		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.8131G>T	6.37:g.145069573G>T	ENSP00000356515:p.Glu2711*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.E2711*	ENST00000367545.3	37	c.8131	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	G	38	7.257033	0.98168	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	.	.	.	5.62	5.62	0.85841	.	0.000000	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.6644	0.95887	0.0:0.0:1.0:0.0	.	.	.	.	X	2711;266	.	ENSP00000356496:E266X	E	+	1	0	UTRN	145111266	1.000000	0.71417	0.988000	0.46212	0.574000	0.36063	9.476000	0.97823	2.637000	0.89404	0.563000	0.77884	GAG	UTRN	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000152818		0.498	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	32	0.00	0	G			145069573	145069573	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	nonsense	9	52.63	10	SNP	1.000	T
VPS13C	54832	genome.wustl.edu	37	15	62228931	62228931	+	Missense_Mutation	SNP	C	C	G	rs200633287		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:62228931C>G	ENST00000261517.5	-	48	5693	c.5620G>C	c.(5620-5622)Gac>Cac	p.D1874H	VPS13C_ENST00000395898.3_Missense_Mutation_p.D1831H|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1831H|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1874H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGTCAAGTCATCTTCACTG	0.348																																						dbGAP											0													46.0	47.0	46.0					15																	62228931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5620G>C	15.37:g.62228931C>G	ENSP00000261517:p.Asp1874His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D1874H	ENST00000261517.5	37	c.5620	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388194	0.82902	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.37584	1.19;1.19;1.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.69351	-0.5168	10	0.87932	D	0	.	18.043	0.89324	0.0:1.0:0.0:0.0	.	1831;1874;1831;1874	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	1831;1874;1874;1874	ENSP00000249837:D1831H;ENSP00000261517:D1874H;ENSP00000379233:D1874H	ENSP00000249837:D1831H	D	-	1	0	VPS13C	60016223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.272000	0.72575	2.689000	0.91719	0.655000	0.94253	GAC	VPS13C	-	NULL	ENSG00000129003		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	37	0.00	0	C	NM_017684		62228931	62228931	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	G
VPS13C	54832	genome.wustl.edu	37	15	62228931	62228931	+	Missense_Mutation	SNP	C	C	G	rs200633287		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:62228931C>G	ENST00000261517.5	-	48	5693	c.5620G>C	c.(5620-5622)Gac>Cac	p.D1874H	VPS13C_ENST00000395898.3_Missense_Mutation_p.D1831H|VPS13C_ENST00000249837.3_Missense_Mutation_p.D1831H|VPS13C_ENST00000395896.4_Missense_Mutation_p.D1874H	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACTGTCAAGTCATCTTCACTG	0.348																																						dbGAP											0													46.0	47.0	46.0					15																	62228931		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5620G>C	15.37:g.62228931C>G	ENSP00000261517:p.Asp1874His	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.D1874H	ENST00000261517.5	37	c.5620	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388194	0.82902	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.37584	1.19;1.19;1.19	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.83953	2.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.69351	-0.5168	10	0.87932	D	0	.	18.043	0.89324	0.0:1.0:0.0:0.0	.	1831;1874;1831;1874	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	H	1831;1874;1874;1874	ENSP00000249837:D1831H;ENSP00000261517:D1874H;ENSP00000379233:D1874H	ENSP00000249837:D1831H	D	-	1	0	VPS13C	60016223	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.272000	0.72575	2.689000	0.91719	0.655000	0.94253	GAC	VPS13C	-	NULL	ENSG00000129003		0.348	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	44	0.00	0	C	NM_017684		62228931	62228931	-1	no_errors	ENST00000261517	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	G
VPS16	64601	genome.wustl.edu	37	20	2841103	2841103	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:2841103C>G	ENST00000380445.3	+	5	450	c.378C>G	c.(376-378)ctC>ctG	p.L126L	VPS16_ENST00000380469.3_Silent_p.L126L|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	126					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGAAGTGCTCCAGAACCGGG	0.602																																						dbGAP											0													80.0	78.0	79.0					20																	2841103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.378C>G	20.37:g.2841103C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.L126	ENST00000380445.3	37	c.378	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16	ENSG00000215305		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	62	0.00	0	C	NM_022575		2841103	2841103	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.982	G
VPS16	64601	genome.wustl.edu	37	20	2841103	2841103	+	Silent	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:2841103C>G	ENST00000380445.3	+	5	450	c.378C>G	c.(376-378)ctC>ctG	p.L126L	VPS16_ENST00000380469.3_Silent_p.L126L|VPS16_ENST00000380443.3_5'Flank	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	126					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						AGGAAGTGCTCCAGAACCGGG	0.602																																						dbGAP											0													80.0	78.0	79.0					20																	2841103		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.378C>G	20.37:g.2841103C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Silent	SNP	pfam_Vps16_N,pfam_Vps16_C,pirsf_VPS16	p.L126	ENST00000380445.3	37	c.378	CCDS13036.1	20																																																																																			VPS16	-	pfam_Vps16_N,pirsf_VPS16	ENSG00000215305		0.602	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS16	HGNC	protein_coding	OTTHUMT00000077658.2	57	0.00	0	C	NM_022575		2841103	2841103	+1	no_errors	ENST00000380445	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.982	G
VPS39	23339	genome.wustl.edu	37	15	42455562	42455562	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr15:42455562C>A	ENST00000348544.4	-	22	2193	c.2194G>T	c.(2194-2196)Gat>Tat	p.D732Y	VPS39_ENST00000318006.5_Missense_Mutation_p.D721Y			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	732					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTGTTGCCATCTTTGTTTCGG	0.532																																						dbGAP											0													286.0	201.0	230.0					15																	42455562		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2194G>T	15.37:g.42455562C>A	ENSP00000335193:p.Asp732Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.D732Y	ENST00000348544.4	37	c.2194	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693294	0.68386	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.47869	0.83;0.83	5.99	5.99	0.97316	.	0.149947	0.64402	D	0.000011	T	0.59729	0.2215	L	0.52011	1.625	0.54753	D	0.999983	P;P	0.50528	0.48;0.936	B;P	0.53809	0.305;0.735	T	0.58200	-0.7678	10	0.62326	D	0.03	-11.2175	20.4777	0.99188	0.0:1.0:0.0:0.0	.	732;721	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Y	721;732	ENSP00000326534:D721Y;ENSP00000335193:D732Y	ENSP00000326534:D721Y	D	-	1	0	VPS39	40242854	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.548000	0.53670	2.840000	0.97914	0.655000	0.94253	GAT	VPS39	-	NULL	ENSG00000166887		0.532	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	166	0.00	0	C	NM_015289		42455562	42455562	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	missense	83	23.85	26	SNP	1.000	A
VPS39	23339	genome.wustl.edu	37	15	42455562	42455562	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr15:42455562C>A	ENST00000348544.4	-	22	2193	c.2194G>T	c.(2194-2196)Gat>Tat	p.D732Y	VPS39_ENST00000318006.5_Missense_Mutation_p.D721Y			Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	732					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	endosome (GO:0005768)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	small GTPase regulator activity (GO:0005083)			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TTGTTGCCATCTTTGTTTCGG	0.532																																						dbGAP											0													286.0	201.0	230.0					15																	42455562		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF280814	CCDS10083.1, CCDS73710.1	15q14	2008-02-05	2006-12-19		ENSG00000166887	ENSG00000166887			20593	protein-coding gene	gene with protein product		612188	"""vacuolar protein sorting 39 (yeast)"""			11448994	Standard	XM_005254259		Approved	KIAA0770, VAM6	uc001zpc.3	Q96JC1	OTTHUMG00000130467	ENST00000348544.4:c.2194G>T	15.37:g.42455562C>A	ENSP00000335193:p.Asp732Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94869|Q71SQ6|Q7Z3V3|Q96B93|Q96RM0	Missense_Mutation	SNP	pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron	p.D732Y	ENST00000348544.4	37	c.2194	CCDS10083.1	15	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693294	0.68386	.	.	ENSG00000166887	ENST00000318006;ENST00000348544	T;T	0.47869	0.83;0.83	5.99	5.99	0.97316	.	0.149947	0.64402	D	0.000011	T	0.59729	0.2215	L	0.52011	1.625	0.54753	D	0.999983	P;P	0.50528	0.48;0.936	B;P	0.53809	0.305;0.735	T	0.58200	-0.7678	10	0.62326	D	0.03	-11.2175	20.4777	0.99188	0.0:1.0:0.0:0.0	.	732;721	Q96JC1;Q96JC1-2	VPS39_HUMAN;.	Y	721;732	ENSP00000326534:D721Y;ENSP00000335193:D732Y	ENSP00000326534:D721Y	D	-	1	0	VPS39	40242854	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.548000	0.53670	2.840000	0.97914	0.655000	0.94253	GAT	VPS39	-	NULL	ENSG00000166887		0.532	VPS39-002	KNOWN	basic|CCDS	protein_coding	VPS39	HGNC	protein_coding	OTTHUMT00000420472.1	169	0.00	0	C	NM_015289		42455562	42455562	-1	no_errors	ENST00000348544	ensembl	human	known	69_37n	missense	83	23.85	26	SNP	1.000	A
VRK3	51231	genome.wustl.edu	37	19	50511043	50511043	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:50511043C>G	ENST00000599538.1	-	5	994	c.330G>C	c.(328-330)caG>caC	p.Q110H	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.Q110H|VRK3_ENST00000593919.1_Missense_Mutation_p.Q110H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q60H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q110H|VRK3_ENST00000601912.1_Missense_Mutation_p.Q60H|VRK3_ENST00000377011.2_Missense_Mutation_p.Q60H|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.Q110H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	110					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCCTGGTCTTCTGAGGGCTGC	0.577																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	dbGAP											0													75.0	73.0	74.0					19																	50511043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.330G>C	19.37:g.50511043C>G	ENSP00000469880:p.Gln110His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG5|A8KA53|Q502Y2|Q9P2V8	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,pfscan_Prot_kinase_cat_dom	p.Q110H	ENST00000599538.1	37	c.330	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368607	0.24771	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.26957	1.7;1.78	4.2	-2.06	0.07298	.	0.836455	0.10487	N	0.668889	T	0.16854	0.0405	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.25563	0.129;0.037;0.022;0.022;0.022	B;B;B;B;B	0.21360	0.034;0.018;0.008;0.008;0.008	T	0.30327	-0.9982	10	0.42905	T	0.14	-4.0295	0.8273	0.01123	0.1692:0.3869:0.1538:0.29	.	110;110;110;60;110	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	H	110;60;110	ENSP00000324636:Q110H;ENSP00000366210:Q60H	ENSP00000324636:Q110H	Q	-	3	2	VRK3	55202855	0.003000	0.15002	0.000000	0.03702	0.072000	0.16883	-0.066000	0.11598	-0.199000	0.10317	-0.373000	0.07131	CAG	VRK3	-	NULL	ENSG00000105053		0.577	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	78	0.00	0	C	NM_016440		50511043	50511043	-1	no_errors	ENST00000316763	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.000	G
VRK3	51231	genome.wustl.edu	37	19	50511043	50511043	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:50511043C>G	ENST00000599538.1	-	5	994	c.330G>C	c.(328-330)caG>caC	p.Q110H	VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594948.1_Missense_Mutation_p.Q110H|VRK3_ENST00000593919.1_Missense_Mutation_p.Q110H|VRK3_ENST00000601341.1_Missense_Mutation_p.Q60H|VRK3_ENST00000594092.1_Missense_Mutation_p.Q110H|VRK3_ENST00000601912.1_Missense_Mutation_p.Q60H|VRK3_ENST00000377011.2_Missense_Mutation_p.Q60H|VRK3_ENST00000443401.2_5'UTR|VRK3_ENST00000316763.3_Missense_Mutation_p.Q110H			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	110					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TCCTGGTCTTCTGAGGGCTGC	0.577																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	dbGAP											0													75.0	73.0	74.0					19																	50511043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.330G>C	19.37:g.50511043C>G	ENSP00000469880:p.Gln110His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG5|A8KA53|Q502Y2|Q9P2V8	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,pfscan_Prot_kinase_cat_dom	p.Q110H	ENST00000599538.1	37	c.330	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368607	0.24771	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000424804	T;T	0.26957	1.7;1.78	4.2	-2.06	0.07298	.	0.836455	0.10487	N	0.668889	T	0.16854	0.0405	L	0.51422	1.61	0.09310	N	1	B;B;B;B;B	0.25563	0.129;0.037;0.022;0.022;0.022	B;B;B;B;B	0.21360	0.034;0.018;0.008;0.008;0.008	T	0.30327	-0.9982	10	0.42905	T	0.14	-4.0295	0.8273	0.01123	0.1692:0.3869:0.1538:0.29	.	110;110;110;60;110	E7EMG6;Q8IV63-2;B4E0U5;A6NEG5;Q8IV63	.;.;.;.;VRK3_HUMAN	H	110;60;110	ENSP00000324636:Q110H;ENSP00000366210:Q60H	ENSP00000324636:Q110H	Q	-	3	2	VRK3	55202855	0.003000	0.15002	0.000000	0.03702	0.072000	0.16883	-0.066000	0.11598	-0.199000	0.10317	-0.373000	0.07131	CAG	VRK3	-	NULL	ENSG00000105053		0.577	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	HGNC	protein_coding	OTTHUMT00000464815.1	75	0.00	0	C	NM_016440		50511043	50511043	-1	no_errors	ENST00000316763	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.000	G
VWA3B	200403	genome.wustl.edu	37	2	98750312	98750312	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:98750312G>C	ENST00000477737.1	+	7	1102	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	VWA3B_ENST00000451075.2_Missense_Mutation_p.E150Q|VWA3B_ENST00000435344.1_Missense_Mutation_p.E300Q	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	300										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAGAGAACAGAGTGTGTAGA	0.473																																						dbGAP											0													298.0	282.0	287.0					2																	98750312		2065	4217	6282	-	-	-	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.898G>C	2.37:g.98750312G>C	ENSP00000417955:p.Glu300Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E300Q	ENST00000477737.1	37	c.898	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007940	0.19199	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15487	7.43;7.43;2.42	5.66	2.8	0.32819	.	0.407508	0.23206	N	0.050728	T	0.15609	0.0376	L	0.44542	1.39	0.18873	N	0.999988	P;P;P	0.45827	0.682;0.867;0.858	B;B;B	0.44133	0.256;0.337;0.442	T	0.09907	-1.0653	10	0.28530	T	0.3	.	8.6226	0.33870	0.0784:0.2902:0.6314:0.0	.	150;300;300	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	Q	300;300;150	ENSP00000401959:E300Q;ENSP00000417955:E300Q;ENSP00000389463:E150Q	ENSP00000411168:E300Q	E	+	1	0	VWA3B	98116744	0.999000	0.42202	0.992000	0.48379	0.153000	0.21895	2.888000	0.48594	0.295000	0.22570	-0.175000	0.13238	GAG	VWA3B	-	NULL	ENSG00000168658		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	67	0.00	0	G	NM_144992		98750312	98750312	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	missense	26	32.50	13	SNP	0.653	C
VWA3B	200403	genome.wustl.edu	37	2	98750312	98750312	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:98750312G>C	ENST00000477737.1	+	7	1102	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	VWA3B_ENST00000451075.2_Missense_Mutation_p.E150Q|VWA3B_ENST00000435344.1_Missense_Mutation_p.E300Q	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	300										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGAGAGAACAGAGTGTGTAGA	0.473																																						dbGAP											0													298.0	282.0	287.0					2																	98750312		2065	4217	6282	-	-	-	SO:0001583	missense	0			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.898G>C	2.37:g.98750312G>C	ENSP00000417955:p.Glu300Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E300Q	ENST00000477737.1	37	c.898	CCDS42718.1	2	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007940	0.19199	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.15487	7.43;7.43;2.42	5.66	2.8	0.32819	.	0.407508	0.23206	N	0.050728	T	0.15609	0.0376	L	0.44542	1.39	0.18873	N	0.999988	P;P;P	0.45827	0.682;0.867;0.858	B;B;B	0.44133	0.256;0.337;0.442	T	0.09907	-1.0653	10	0.28530	T	0.3	.	8.6226	0.33870	0.0784:0.2902:0.6314:0.0	.	150;300;300	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	Q	300;300;150	ENSP00000401959:E300Q;ENSP00000417955:E300Q;ENSP00000389463:E150Q	ENSP00000411168:E300Q	E	+	1	0	VWA3B	98116744	0.999000	0.42202	0.992000	0.48379	0.153000	0.21895	2.888000	0.48594	0.295000	0.22570	-0.175000	0.13238	GAG	VWA3B	-	NULL	ENSG00000168658		0.473	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3B	HGNC	protein_coding	OTTHUMT00000353469.2	51	0.00	0	G	NM_144992		98750312	98750312	+1	no_errors	ENST00000477737	ensembl	human	known	69_37n	missense	26	32.50	13	SNP	0.653	C
WEE1	7465	genome.wustl.edu	37	11	9597779	9597779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:9597779delC	ENST00000450114.2	+	3	1038	c.785delC	c.(784-786)tccfs	p.S262fs	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Frame_Shift_Del_p.S48fs	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	262					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ttttttagttcctgtggtgaa	0.289																																						dbGAP											0													59.0	69.0	65.0					11																	9597779		1327	2309	3636	-	-	-	SO:0001589	frameshift_variant	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.785delC	11.37:g.9597779delC	ENSP00000402084:p.Ser262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE1|D3DQV0	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.C263fs	ENST00000450114.2	37	c.785	CCDS7800.1	11																																																																																			WEE1	-	pirsf_Wee1-like_protein_kinase	ENSG00000166483		0.289	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	HGNC	protein_coding	OTTHUMT00000386757.1	50	0.00	0	C	NM_003390		9597779	9597779	+1	no_errors	ENST00000450114	ensembl	human	known	69_37n	frame_shift_del	39	26.42	14	DEL	1.000	-
WEE1	7465	genome.wustl.edu	37	11	9597779	9597779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:9597779delC	ENST00000450114.2	+	3	1038	c.785delC	c.(784-786)tccfs	p.S262fs	snoU13_ENST00000458785.1_RNA|WEE1_ENST00000299613.6_Frame_Shift_Del_p.S48fs	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	262					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ttttttagttcctgtggtgaa	0.289																																						dbGAP											0													59.0	69.0	65.0					11																	9597779		1327	2309	3636	-	-	-	SO:0001589	frameshift_variant	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.785delC	11.37:g.9597779delC	ENSP00000402084:p.Ser262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE1|D3DQV0	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.C263fs	ENST00000450114.2	37	c.785	CCDS7800.1	11																																																																																			WEE1	-	pirsf_Wee1-like_protein_kinase	ENSG00000166483		0.289	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	HGNC	protein_coding	OTTHUMT00000386757.1	59	0.00	0	C	NM_003390		9597779	9597779	+1	no_errors	ENST00000450114	ensembl	human	known	69_37n	frame_shift_del	39	26.42	14	DEL	1.000	-
WNK3	65267	genome.wustl.edu	37	X	54319422	54319422	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:54319422G>C	ENST00000375159.2	-	9	1935	c.1936C>G	c.(1936-1938)Caa>Gaa	p.Q646E	WNK3_ENST00000375169.3_Missense_Mutation_p.Q646E|WNK3_ENST00000354646.2_Missense_Mutation_p.Q646E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	646					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GACTGACCTTGAACCAAAGGC	0.408																																						dbGAP											0													93.0	80.0	85.0					X																	54319422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1936C>G	X.37:g.54319422G>C	ENSP00000364301:p.Gln646Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q646E	ENST00000375159.2	37	c.1936	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949780	0.34377	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72394	-0.62;-0.65;-0.65	5.03	4.14	0.48551	.	0.461136	0.18545	N	0.138080	T	0.52773	0.1755	L	0.29908	0.895	0.27203	N	0.960101	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.35325	-0.9793	10	0.02654	T	1	-3.121	10.7826	0.46386	0.0:0.1884:0.8116:0.0	.	646;646	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	E	646	ENSP00000364312:Q646E;ENSP00000346667:Q646E;ENSP00000364301:Q646E	ENSP00000346667:Q646E	Q	-	1	0	WNK3	54336147	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.360000	0.44151	1.163000	0.42636	0.556000	0.70494	CAA	WNK3	-	NULL	ENSG00000196632		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	85	0.00	0	G	NM_020922		54319422	54319422	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	1.000	C
WNK3	65267	genome.wustl.edu	37	X	54319422	54319422	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:54319422G>C	ENST00000375159.2	-	9	1935	c.1936C>G	c.(1936-1938)Caa>Gaa	p.Q646E	WNK3_ENST00000375169.3_Missense_Mutation_p.Q646E|WNK3_ENST00000354646.2_Missense_Mutation_p.Q646E			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	646					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GACTGACCTTGAACCAAAGGC	0.408																																						dbGAP											0													93.0	80.0	85.0					X																	54319422		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1936C>G	X.37:g.54319422G>C	ENSP00000364301:p.Gln646Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q646E	ENST00000375159.2	37	c.1936	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949780	0.34377	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72394	-0.62;-0.65;-0.65	5.03	4.14	0.48551	.	0.461136	0.18545	N	0.138080	T	0.52773	0.1755	L	0.29908	0.895	0.27203	N	0.960101	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.003	T	0.35325	-0.9793	10	0.02654	T	1	-3.121	10.7826	0.46386	0.0:0.1884:0.8116:0.0	.	646;646	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	E	646	ENSP00000364312:Q646E;ENSP00000346667:Q646E;ENSP00000364301:Q646E	ENSP00000346667:Q646E	Q	-	1	0	WNK3	54336147	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	2.360000	0.44151	1.163000	0.42636	0.556000	0.70494	CAA	WNK3	-	NULL	ENSG00000196632		0.408	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	62	0.00	0	G	NM_020922		54319422	54319422	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	missense	43	29.51	18	SNP	1.000	C
WNK3	65267	genome.wustl.edu	37	X	54321119	54321119	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:54321119C>T	ENST00000375159.2	-	7	1559	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q	WNK3_ENST00000375169.3_Silent_p.Q520Q|WNK3_ENST00000354646.2_Silent_p.Q520Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	520					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATTCTGGGGCTGAGGGAATA	0.473																																						dbGAP											0													91.0	80.0	84.0					X																	54321119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1560G>A	X.37:g.54321119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q520	ENST00000375159.2	37	c.1560	CCDS14357.1	X																																																																																			WNK3	-	NULL	ENSG00000196632		0.473	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	55	0.00	0	C	NM_020922		54321119	54321119	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.001	T
WNK3	65267	genome.wustl.edu	37	X	54321119	54321119	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:54321119C>T	ENST00000375159.2	-	7	1559	c.1560G>A	c.(1558-1560)caG>caA	p.Q520Q	WNK3_ENST00000375169.3_Silent_p.Q520Q|WNK3_ENST00000354646.2_Silent_p.Q520Q			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	520					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TATTCTGGGGCTGAGGGAATA	0.473																																						dbGAP											0													91.0	80.0	84.0					X																	54321119		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1560G>A	X.37:g.54321119C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q520	ENST00000375159.2	37	c.1560	CCDS14357.1	X																																																																																			WNK3	-	NULL	ENSG00000196632		0.473	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	67	0.00	0	C	NM_020922		54321119	54321119	-1	no_errors	ENST00000354646	ensembl	human	known	69_37n	silent	35	28.57	14	SNP	0.001	T
WNT16	51384	genome.wustl.edu	37	7	120969831	120969831	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:120969831G>A	ENST00000222462.2	+	2	596	c.306G>A	c.(304-306)ccG>ccA	p.P102P	WNT16_ENST00000361301.2_Silent_p.P92P	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	102					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTACCGCCCCGATGGGCGCCA	0.662																																						dbGAP											0													23.0	26.0	25.0					7																	120969831		2196	4284	6480	-	-	-	SO:0001819	synonymous_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.306G>A	7.37:g.120969831G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3G1|Q9Y5C0	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.P102	ENST00000222462.2	37	c.306	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt16	ENSG00000002745		0.662	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	61	0.00	0	G	NM_057168		120969831	120969831	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	silent	41	12.77	6	SNP	0.000	A
WNT16	51384	genome.wustl.edu	37	7	120969831	120969831	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:120969831G>A	ENST00000222462.2	+	2	596	c.306G>A	c.(304-306)ccG>ccA	p.P102P	WNT16_ENST00000361301.2_Silent_p.P92P	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	102					bone remodeling (GO:0046849)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|optic cup formation involved in camera-type eye development (GO:0003408)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|replicative senescence (GO:0090399)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTACCGCCCCGATGGGCGCCA	0.662																																						dbGAP											0													23.0	26.0	25.0					7																	120969831		2196	4284	6480	-	-	-	SO:0001819	synonymous_variant	0			AF152584	CCDS5780.1, CCDS5781.1	7q31	2008-07-18			ENSG00000002745	ENSG00000002745		"""Wingless-type MMTV integration sites"""	16267	protein-coding gene	gene with protein product		606267				10500199	Standard	NM_016087		Approved		uc003vjw.3	Q9UBV4	OTTHUMG00000156963	ENST00000222462.2:c.306G>A	7.37:g.120969831G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3G1|Q9Y5C0	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt16,prints_Wnt	p.P102	ENST00000222462.2	37	c.306	CCDS5781.1	7																																																																																			WNT16	-	pfam_Wnt,smart_Wnt,prints_Wnt16	ENSG00000002745		0.662	WNT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT16	HGNC	protein_coding	OTTHUMT00000346843.1	62	0.00	0	G	NM_057168		120969831	120969831	+1	no_errors	ENST00000222462	ensembl	human	known	69_37n	silent	41	12.77	6	SNP	0.000	A
XPO6	23214	genome.wustl.edu	37	16	28187249	28187249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:28187249G>C	ENST00000304658.5	-	4	875	c.375C>G	c.(373-375)ttC>ttG	p.F125L	XPO6_ENST00000565698.1_Missense_Mutation_p.F111L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	125					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGTCGTGGTAGAACATGGGCC	0.373																																						dbGAP											0													79.0	73.0	75.0					16																	28187249		1871	4104	5975	-	-	-	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.375C>G	16.37:g.28187249G>C	ENSP00000302790:p.Phe125Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F125L	ENST00000304658.5	37	c.375	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809645	0.70797	.	.	ENSG00000169180	ENST00000304658	T	0.66280	-0.2	5.42	5.42	0.78866	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.66939	2.045	0.80722	D	1	P;D	0.56968	0.936;0.978	P;P	0.53006	0.596;0.715	T	0.63994	-0.6511	10	0.11794	T	0.64	-21.7971	17.0597	0.86543	0.0:0.0:1.0:0.0	.	125;125	B7ZM10;Q96QU8	.;XPO6_HUMAN	L	125	ENSP00000302790:F125L	ENSP00000302790:F125L	F	-	3	2	XPO6	28094750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.694000	0.74587	2.698000	0.92095	0.655000	0.94253	TTC	XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000169180		0.373	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	52	0.00	0	G	XM_055195		28187249	28187249	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	1.000	C
XPO6	23214	genome.wustl.edu	37	16	28187249	28187249	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:28187249G>C	ENST00000304658.5	-	4	875	c.375C>G	c.(373-375)ttC>ttG	p.F125L	XPO6_ENST00000565698.1_Missense_Mutation_p.F111L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	125					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGTCGTGGTAGAACATGGGCC	0.373																																						dbGAP											0													79.0	73.0	75.0					16																	28187249		1871	4104	5975	-	-	-	SO:0001583	missense	0			AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.375C>G	16.37:g.28187249G>C	ENSP00000302790:p.Phe125Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.F125L	ENST00000304658.5	37	c.375	CCDS42135.1	16	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809645	0.70797	.	.	ENSG00000169180	ENST00000304658	T	0.66280	-0.2	5.42	5.42	0.78866	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.66939	2.045	0.80722	D	1	P;D	0.56968	0.936;0.978	P;P	0.53006	0.596;0.715	T	0.63994	-0.6511	10	0.11794	T	0.64	-21.7971	17.0597	0.86543	0.0:0.0:1.0:0.0	.	125;125	B7ZM10;Q96QU8	.;XPO6_HUMAN	L	125	ENSP00000302790:F125L	ENSP00000302790:F125L	F	-	3	2	XPO6	28094750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.694000	0.74587	2.698000	0.92095	0.655000	0.94253	TTC	XPO6	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000169180		0.373	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO6	HGNC	protein_coding	OTTHUMT00000433732.1	43	0.00	0	G	XM_055195		28187249	28187249	-1	no_errors	ENST00000304658	ensembl	human	known	69_37n	missense	48	22.58	14	SNP	1.000	C
XYLB	9942	genome.wustl.edu	37	3	38454474	38454474	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr3:38454474C>G	ENST00000207870.3	+	19	1671	c.1581C>G	c.(1579-1581)atC>atG	p.I527M	XYLB_ENST00000542835.1_Missense_Mutation_p.I390M|XYLB_ENST00000472721.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	527					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGCAGAGAATCTTGTCTCAGA	0.552																																						dbGAP											0													90.0	91.0	91.0					3																	38454474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1581C>G	3.37:g.38454474C>G	ENSP00000207870:p.Ile527Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N	p.I527M	ENST00000207870.3	37	c.1581	CCDS2678.1	3	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121097	0.20877	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.25250	2.38;1.81	3.33	3.33	0.38152	.	0.259681	0.31347	N	0.007819	T	0.20780	0.0500	L	0.38175	1.15	0.32094	N	0.591447	B	0.26512	0.151	B	0.28991	0.097	T	0.22626	-1.0211	10	0.59425	D	0.04	.	10.4566	0.44555	0.0:1.0:0.0:0.0	.	527	O75191	XYLB_HUMAN	M	527;390	ENSP00000207870:I527M;ENSP00000443659:I390M	ENSP00000207870:I527M	I	+	3	3	XYLB	38429478	0.997000	0.39634	0.991000	0.47740	0.483000	0.33249	1.003000	0.29809	2.168000	0.68352	0.491000	0.48974	ATC	XYLB	-	NULL	ENSG00000093217		0.552	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	22	0.00	0	C	NM_005108		38454474	38454474	+1	no_errors	ENST00000207870	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	0.994	G
XYLB	9942	genome.wustl.edu	37	3	38454474	38454474	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr3:38454474C>G	ENST00000207870.3	+	19	1671	c.1581C>G	c.(1579-1581)atC>atG	p.I527M	XYLB_ENST00000542835.1_Missense_Mutation_p.I390M|XYLB_ENST00000472721.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	527					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGCAGAGAATCTTGTCTCAGA	0.552																																						dbGAP											0													90.0	91.0	91.0					3																	38454474		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1581C>G	3.37:g.38454474C>G	ENSP00000207870:p.Ile527Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAW4|B4DDT2|B9EH64	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N	p.I527M	ENST00000207870.3	37	c.1581	CCDS2678.1	3	.	.	.	.	.	.	.	.	.	.	C	9.571	1.121097	0.20877	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	T;T	0.25250	2.38;1.81	3.33	3.33	0.38152	.	0.259681	0.31347	N	0.007819	T	0.20780	0.0500	L	0.38175	1.15	0.32094	N	0.591447	B	0.26512	0.151	B	0.28991	0.097	T	0.22626	-1.0211	10	0.59425	D	0.04	.	10.4566	0.44555	0.0:1.0:0.0:0.0	.	527	O75191	XYLB_HUMAN	M	527;390	ENSP00000207870:I527M;ENSP00000443659:I390M	ENSP00000207870:I527M	I	+	3	3	XYLB	38429478	0.997000	0.39634	0.991000	0.47740	0.483000	0.33249	1.003000	0.29809	2.168000	0.68352	0.491000	0.48974	ATC	XYLB	-	NULL	ENSG00000093217		0.552	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	HGNC	protein_coding	OTTHUMT00000254062.2	27	0.00	0	C	NM_005108		38454474	38454474	+1	no_errors	ENST00000207870	ensembl	human	known	69_37n	missense	6	60.00	9	SNP	0.994	G
YWHAB	7529	genome.wustl.edu	37	20	43534530	43534530	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:43534530C>T	ENST00000372839.3	+	6	862				YWHAB_ENST00000479421.1_Intron|YWHAB_ENST00000353703.4_Intron	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta						activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AGCCTAGGTTCCCCCAAAGTA	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.589-112C>T	20.37:g.43534530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9K2|E1P616	RNA	SNP	-	NULL	ENST00000372839.3	37	NULL	CCDS13339.1	20																																																																																			YWHAB	-	-	ENSG00000166913		0.403	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	21	0.00	0	C	NM_003404		43534530	43534530	+1	no_errors	ENST00000479758	ensembl	human	putative	69_37n	rna	15	28.57	6	SNP	0.000	T
YWHAB	7529	genome.wustl.edu	37	20	43534530	43534530	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr20:43534530C>T	ENST00000372839.3	+	6	862				YWHAB_ENST00000479421.1_Intron|YWHAB_ENST00000353703.4_Intron	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta						activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cytoplasmic sequestering of protein (GO:0051220)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|MAPK cascade (GO:0000165)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of catalytic activity (GO:0043085)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein heterooligomerization (GO:0051291)|protein targeting (GO:0006605)|Ras protein signal transduction (GO:0007265)|RNA metabolic process (GO:0016070)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcriptional repressor complex (GO:0017053)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				AGCCTAGGTTCCCCCAAAGTA	0.403																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X57346	CCDS13339.1	20q13.1	2013-12-03	2013-12-03		ENSG00000166913	ENSG00000166913			12849	protein-coding gene	gene with protein product	"""14-3-3 beta"", ""14-3-3 alpha"""	601289	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, alpha polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide"""	YWHAA		8617504, 7890696	Standard	NM_003404		Approved		uc002xmu.3	P31946	OTTHUMG00000032549	ENST00000372839.3:c.589-112C>T	20.37:g.43534530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9K2|E1P616	RNA	SNP	-	NULL	ENST00000372839.3	37	NULL	CCDS13339.1	20																																																																																			YWHAB	-	-	ENSG00000166913		0.403	YWHAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAB	HGNC	protein_coding	OTTHUMT00000079386.3	22	0.00	0	C	NM_003404		43534530	43534530	+1	no_errors	ENST00000479758	ensembl	human	putative	69_37n	rna	15	28.57	6	SNP	0.000	T
ZCCHC11	23318	genome.wustl.edu	37	1	52930846	52930846	+	Splice_Site	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:52930846C>T	ENST00000371544.3	-	16	3228		c.e16-1		ZCCHC11_ENST00000257177.4_Splice_Site|ZCCHC11_ENST00000371541.1_Splice_Site	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTGCCTTTTCTAAGCAAAGG	0.408																																						dbGAP											0													88.0	84.0	85.0					1																	52930846		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2966-1G>A	1.37:g.52930846C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	SNP	-	e15-1	ENST00000371544.3	37	c.2966-1	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232319	0.79688	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7878	0.88543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC11	52703434	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.407000	0.80029	2.283000	0.76528	0.484000	0.47621	.	ZCCHC11	-	-	ENSG00000134744		0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	35	0.00	0	C	XM_038288	Intron	52930846	52930846	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	splice_site	25	16.67	5	SNP	1.000	T
ZCCHC11	23318	genome.wustl.edu	37	1	52930846	52930846	+	Splice_Site	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:52930846C>T	ENST00000371544.3	-	16	3228		c.e16-1		ZCCHC11_ENST00000257177.4_Splice_Site|ZCCHC11_ENST00000371541.1_Splice_Site	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTTGCCTTTTCTAAGCAAAGG	0.408																																						dbGAP											0													88.0	84.0	85.0					1																	52930846		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.2966-1G>A	1.37:g.52930846C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Splice_Site	SNP	-	e15-1	ENST00000371544.3	37	c.2966-1	CCDS30716.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232319	0.79688	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7878	0.88543	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC11	52703434	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.407000	0.80029	2.283000	0.76528	0.484000	0.47621	.	ZCCHC11	-	-	ENSG00000134744		0.408	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	29	0.00	0	C	XM_038288	Intron	52930846	52930846	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	splice_site	25	16.67	5	SNP	1.000	T
ZCWPW1	55063	genome.wustl.edu	37	7	100004914	100004914	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr7:100004914C>T	ENST00000398027.2	-	11	1249	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.M214I|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.M214I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.M335I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	334	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGATTCTATCATGCCTGGCC	0.468																																						dbGAP											0													52.0	47.0	48.0					7																	100004914		1912	4112	6024	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1002G>A	7.37:g.100004914C>T	ENSP00000381109:p.Met334Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.M334I	ENST00000398027.2	37	c.1002	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	c	14.46	2.543077	0.45280	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.26	5.26	0.73747	PWWP (2);	0.000000	0.64402	D	0.000014	T	0.69815	0.3153	L	0.31207	0.915	0.38303	D	0.943021	P;P;P;P;P	0.43578	0.786;0.679;0.644;0.811;0.756	P;P;P;P;P	0.52454	0.519;0.699;0.622;0.699;0.569	T	0.69431	-0.5147	9	.	.	.	-16.8131	14.7727	0.69691	0.0:1.0:0.0:0.0	.	335;295;337;334;214	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	334;214;335;214;84;337	ENSP00000381109:M334I;ENSP00000419187:M214I;ENSP00000354210:M335I;ENSP00000314880:M214I;ENSP00000418351:M84I	.	M	-	3	0	ZCWPW1	99842850	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	1.679000	0.37597	2.629000	0.89072	0.550000	0.68814	ATG	ZCWPW1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000078487		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	56	0.00	0	C	NM_017984		100004914	100004914	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	T
ZCWPW1	55063	genome.wustl.edu	37	7	100004914	100004914	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr7:100004914C>T	ENST00000398027.2	-	11	1249	c.1002G>A	c.(1000-1002)atG>atA	p.M334I	ZCWPW1_ENST00000490721.1_Missense_Mutation_p.M214I|ZCWPW1_ENST00000324725.6_Missense_Mutation_p.M214I|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.M335I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	334	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.						zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGATTCTATCATGCCTGGCC	0.468																																						dbGAP											0													52.0	47.0	48.0					7																	100004914		1912	4112	6024	-	-	-	SO:0001583	missense	0			AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1002G>A	7.37:g.100004914C>T	ENSP00000381109:p.Met334Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW	p.M334I	ENST00000398027.2	37	c.1002	CCDS43623.1	7	.	.	.	.	.	.	.	.	.	.	c	14.46	2.543077	0.45280	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000360951;ENST00000324725;ENST00000471336;ENST00000379559	T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59	5.26	5.26	0.73747	PWWP (2);	0.000000	0.64402	D	0.000014	T	0.69815	0.3153	L	0.31207	0.915	0.38303	D	0.943021	P;P;P;P;P	0.43578	0.786;0.679;0.644;0.811;0.756	P;P;P;P;P	0.52454	0.519;0.699;0.622;0.699;0.569	T	0.69431	-0.5147	9	.	.	.	-16.8131	14.7727	0.69691	0.0:1.0:0.0:0.0	.	335;295;337;334;214	B4DUQ2;B4DXS7;C9J435;Q9H0M4;Q9H0M4-4	.;.;.;ZCPW1_HUMAN;.	I	334;214;335;214;84;337	ENSP00000381109:M334I;ENSP00000419187:M214I;ENSP00000354210:M335I;ENSP00000314880:M214I;ENSP00000418351:M84I	.	M	-	3	0	ZCWPW1	99842850	0.997000	0.39634	1.000000	0.80357	0.985000	0.73830	1.679000	0.37597	2.629000	0.89072	0.550000	0.68814	ATG	ZCWPW1	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000078487		0.468	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZCWPW1	HGNC	protein_coding	OTTHUMT00000356083.1	63	0.00	0	C	NM_017984		100004914	100004914	-1	no_errors	ENST00000398027	ensembl	human	known	69_37n	missense	40	16.67	8	SNP	1.000	T
ZEB2	9839	genome.wustl.edu	37	2	145277793	145277793	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr2:145277793G>A	ENST00000558170.2	-	0	828				ZEB2_ENST00000303660.4_5'Flank|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2-AS1_ENST00000595449.1_RNA|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2_ENST00000465070.1_5'UTR|ZEB2_ENST00000493689.1_5'Flank|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2_ENST00000462355.1_5'Flank|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000539609.3_5'Flank|ZEB2_ENST00000409487.3_5'Flank|ZEB2_ENST00000470879.1_5'Flank|ZEB2-AS1_ENST00000609819.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000428623.1_RNA	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2						cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGAGAGACGAGAGACCCTGAA	0.488											OREG0015003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(33;1235 1264 5755 16332)	dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.-357C>T	2.37:g.145277793G>A		Somatic	1693	WXS	Illumina GAIIx	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	RNA	SNP	-	NULL	ENST00000558170.2	37	NULL	CCDS2186.1	2																																																																																			ZEB2-AS1	-	-	ENSG00000238057		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2-AS1	HGNC	protein_coding	OTTHUMT00000254778.5	13	0.00	0	G	NM_014795		145277793	145277793	+1	no_errors	ENST00000421083	ensembl	human	known	69_37n	rna	12	36.84	7	SNP	1.000	A
ZEB2	9839	genome.wustl.edu	37	2	145277793	145277793	+	5'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr2:145277793G>A	ENST00000558170.2	-	0	828				ZEB2_ENST00000303660.4_5'Flank|ZEB2-AS1_ENST00000609842.1_RNA|ZEB2-AS1_ENST00000595449.1_RNA|ZEB2-AS1_ENST00000427278.3_RNA|ZEB2_ENST00000465070.1_5'UTR|ZEB2_ENST00000493689.1_5'Flank|ZEB2-AS1_ENST00000421083.1_RNA|ZEB2-AS1_ENST00000610265.1_RNA|ZEB2-AS1_ENST00000602006.1_RNA|ZEB2-AS1_ENST00000609376.1_RNA|ZEB2_ENST00000462355.1_5'Flank|ZEB2-AS1_ENST00000595109.1_RNA|ZEB2_ENST00000539609.3_5'Flank|ZEB2_ENST00000409487.3_5'Flank|ZEB2_ENST00000470879.1_5'Flank|ZEB2-AS1_ENST00000609819.1_RNA|ZEB2-AS1_ENST00000608361.1_RNA|ZEB2-AS1_ENST00000428623.1_RNA	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2						cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGAGAGACGAGAGACCCTGAA	0.488											OREG0015003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(33;1235 1264 5755 16332)	dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.-357C>T	2.37:g.145277793G>A		Somatic	1693	WXS	Illumina GAIIx	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	RNA	SNP	-	NULL	ENST00000558170.2	37	NULL	CCDS2186.1	2																																																																																			ZEB2-AS1	-	-	ENSG00000238057		0.488	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2-AS1	HGNC	protein_coding	OTTHUMT00000254778.5	25	0.00	0	G	NM_014795		145277793	145277793	+1	no_errors	ENST00000421083	ensembl	human	known	69_37n	rna	12	36.84	7	SNP	1.000	A
ZFP91	80829	genome.wustl.edu	37	11	58384237	58384237	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr11:58384237C>T	ENST00000316059.6	+	10	1322	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.S384F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	384					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTCAAGAGTTCCCACAATCTG	0.408																																						dbGAP											0													82.0	79.0	80.0					11																	58384237		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1151C>T	11.37:g.58384237C>T	ENSP00000339030:p.Ser384Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S384F	ENST00000316059.6	37	c.1151	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937044	0.92458	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.16196	2.36	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.964	T	0.36986	-0.9725	10	0.87932	D	0	-10.8662	18.6053	0.91264	0.0:1.0:0.0:0.0	.	384;384	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	F	384	ENSP00000339030:S384F	ENSP00000374569:S384F	S	+	2	0	ZFP91	58140813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.518000	0.60510	2.706000	0.92434	0.557000	0.71058	TCC	ZFP91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186660		0.408	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	30	0.00	0	C	NM_053023		58384237	58384237	+1	no_errors	ENST00000316059	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	T
ZFP91	80829	genome.wustl.edu	37	11	58384237	58384237	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr11:58384237C>T	ENST00000316059.6	+	10	1322	c.1151C>T	c.(1150-1152)tCc>tTc	p.S384F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.S384F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	384					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TTCAAGAGTTCCCACAATCTG	0.408																																						dbGAP											0													82.0	79.0	80.0					11																	58384237		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1151C>T	11.37:g.58384237C>T	ENSP00000339030:p.Ser384Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S384F	ENST00000316059.6	37	c.1151	CCDS31553.1	11	.	.	.	.	.	.	.	.	.	.	C	28.6	4.937044	0.92458	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.16196	2.36	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	M	0.73598	2.24	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.83275	0.996;0.964	T	0.36986	-0.9725	10	0.87932	D	0	-10.8662	18.6053	0.91264	0.0:1.0:0.0:0.0	.	384;384	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	F	384	ENSP00000339030:S384F	ENSP00000374569:S384F	S	+	2	0	ZFP91	58140813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.518000	0.60510	2.706000	0.92434	0.557000	0.71058	TCC	ZFP91	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000186660		0.408	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP91	HGNC	protein_coding	OTTHUMT00000268674.1	32	0.00	0	C	NM_053023		58384237	58384237	+1	no_errors	ENST00000316059	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	T
ZFP92	139735	genome.wustl.edu	37	X	152686833	152686833	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:152686833C>T	ENST00000338647.5	+	4	999	c.998C>T	c.(997-999)tCg>tTg	p.S333L	U82695.10_ENST00000569962.1_lincRNA	NM_001136273.1	NP_001129745.1	A6NM28	ZFP92_HUMAN	ZFP92 zinc finger protein	333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)	6						CGTGGCCGTTCGGGCCTCAGC	0.701																																						dbGAP											0													8.0	9.0	9.0					X																	152686833		674	1554	2228	-	-	-	SO:0001583	missense	0			U82695	CCDS59177.1	Xq28	2013-01-08	2012-11-27		ENSG00000189420	ENSG00000189420		"""Zinc fingers, C2H2-type"", ""-"""	12865	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp92 in mouse"", ""zinc finger protein 92 homolog (mouse)"""				Standard	NM_001136273		Approved	ZNF897	uc011myo.2	A6NM28	OTTHUMG00000024198	ENST00000338647.5:c.998C>T	X.37:g.152686833C>T	ENSP00000462054:p.Ser333Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S333L	ENST00000338647.5	37	c.998	CCDS59177.1	X																																																																																			ZFP92	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189420		0.701	ZFP92-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP92	HGNC	protein_coding	OTTHUMT00000332220.2	20	0.00	0	C			152686833	152686833	+1	no_errors	ENST00000338647	ensembl	human	known	69_37n	missense	14	17.65	3	SNP	0.004	T
ZFYVE28	57732	genome.wustl.edu	37	4	2275900	2275900	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr4:2275900C>T	ENST00000290974.2	-	9	2434	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.E4K|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E669K|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E629K	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	699					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGGGCCGCCTCTGGCCCCATC	0.642																																						dbGAP											0													57.0	58.0	58.0					4																	2275900		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2095G>A	4.37:g.2275900C>T	ENSP00000290974:p.Glu699Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E699K	ENST00000290974.2	37	c.2095	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753588	0.69648	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.72051	-0.62;0.1;0.08;0.1	3.75	3.75	0.43078	.	0.311098	0.30620	N	0.009235	T	0.63438	0.2511	L	0.46157	1.445	0.80722	D	1	B;B	0.30793	0.253;0.295	B;B	0.32211	0.117;0.142	T	0.63844	-0.6545	10	0.36615	T	0.2	.	13.0652	0.59030	0.0:1.0:0.0:0.0	.	669;699	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	K	4;699;669;629	ENSP00000427654:E4K;ENSP00000290974:E699K;ENSP00000425706:E669K;ENSP00000426299:E629K	ENSP00000290974:E699K	E	-	1	0	ZFYVE28	2245698	1.000000	0.71417	0.013000	0.15412	0.013000	0.08279	5.250000	0.65432	1.925000	0.55765	0.462000	0.41574	GAG	ZFYVE28	-	NULL	ENSG00000159733		0.642	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	96	0.00	0	C	XM_035371		2275900	2275900	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	0.790	T
ZFYVE28	57732	genome.wustl.edu	37	4	2275900	2275900	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr4:2275900C>T	ENST00000290974.2	-	9	2434	c.2095G>A	c.(2095-2097)Gag>Aag	p.E699K	ZFYVE28_ENST00000508471.1_Missense_Mutation_p.E4K|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.E669K|ZFYVE28_ENST00000515312.1_Missense_Mutation_p.E629K	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	699					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGGGCCGCCTCTGGCCCCATC	0.642																																						dbGAP											0													57.0	58.0	58.0					4																	2275900		2201	4300	6501	-	-	-	SO:0001583	missense	0			AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.2095G>A	4.37:g.2275900C>T	ENSP00000290974:p.Glu699Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.E699K	ENST00000290974.2	37	c.2095	CCDS33942.1	4	.	.	.	.	.	.	.	.	.	.	C	19.06	3.753588	0.69648	.	.	ENSG00000159733	ENST00000508471;ENST00000290974;ENST00000511071;ENST00000515312	T;T;T;T	0.72051	-0.62;0.1;0.08;0.1	3.75	3.75	0.43078	.	0.311098	0.30620	N	0.009235	T	0.63438	0.2511	L	0.46157	1.445	0.80722	D	1	B;B	0.30793	0.253;0.295	B;B	0.32211	0.117;0.142	T	0.63844	-0.6545	10	0.36615	T	0.2	.	13.0652	0.59030	0.0:1.0:0.0:0.0	.	669;699	Q9HCC9-2;Q9HCC9	.;LST2_HUMAN	K	4;699;669;629	ENSP00000427654:E4K;ENSP00000290974:E699K;ENSP00000425706:E669K;ENSP00000426299:E629K	ENSP00000290974:E699K	E	-	1	0	ZFYVE28	2245698	1.000000	0.71417	0.013000	0.15412	0.013000	0.08279	5.250000	0.65432	1.925000	0.55765	0.462000	0.41574	GAG	ZFYVE28	-	NULL	ENSG00000159733		0.642	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE28	HGNC	protein_coding	OTTHUMT00000360078.1	69	0.00	0	C	XM_035371		2275900	2275900	-1	no_errors	ENST00000290974	ensembl	human	known	69_37n	missense	25	35.90	14	SNP	0.790	T
ZMAT1	84460	genome.wustl.edu	37	X	101138400	101138400	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chrX:101138400C>T	ENST00000372782.3	-	0	2046				ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_3'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTCTCCTTTTCTTCATCAGGT	0.294																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*82G>A	X.37:g.101138400C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDS3|Q96JN6	RNA	SNP	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.294	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	35	0.00	0	C			101138400	101138400	-1	no_errors	ENST00000494068	ensembl	human	known	69_37n	rna	17	19.05	4	SNP	0.000	T
ZMAT1	84460	genome.wustl.edu	37	X	101138400	101138400	+	3'UTR	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chrX:101138400C>T	ENST00000372782.3	-	0	2046				ZMAT1_ENST00000540921.1_3'UTR|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_3'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1							nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTCTCCTTTTCTTCATCAGGT	0.294																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.*82G>A	X.37:g.101138400C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NDS3|Q96JN6	RNA	SNP	-	NULL	ENST00000372782.3	37	NULL	CCDS35348.1	X																																																																																			ZMAT1	-	-	ENSG00000166432		0.294	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	39	0.00	0	C			101138400	101138400	-1	no_errors	ENST00000494068	ensembl	human	known	69_37n	rna	17	19.05	4	SNP	0.000	T
ZMYM4	9202	genome.wustl.edu	37	1	35871052	35871052	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:35871052C>G	ENST00000314607.6	+	25	3859	c.3779C>G	c.(3778-3780)tCa>tGa	p.S1260*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S1171*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1260					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGAATCCTCAGAGCCAGGC	0.368																																						dbGAP											0													64.0	65.0	65.0					1																	35871052		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3779C>G	1.37:g.35871052C>G	ENSP00000322915:p.Ser1260*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.S1260*	ENST00000314607.6	37	c.3779	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.848191	0.98522	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	.	.	.	5.95	5.04	0.67666	.	0.374986	0.23284	N	0.049872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.9947	7.8863	0.29653	0.1597:0.7595:0.0:0.0808	.	.	.	.	X	1260;1171	.	ENSP00000322915:S1260X	S	+	2	0	ZMYM4	35643639	0.953000	0.32496	0.999000	0.59377	0.992000	0.81027	1.375000	0.34295	1.518000	0.48934	0.650000	0.86243	TCA	ZMYM4	-	NULL	ENSG00000146463		0.368	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	71	0.00	0	C	NM_005095		35871052	35871052	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	nonsense	44	27.87	17	SNP	0.974	G
ZMYM4	9202	genome.wustl.edu	37	1	35871052	35871052	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:35871052C>G	ENST00000314607.6	+	25	3859	c.3779C>G	c.(3778-3780)tCa>tGa	p.S1260*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S1171*	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1260					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAAGAATCCTCAGAGCCAGGC	0.368																																						dbGAP											0													64.0	65.0	65.0					1																	35871052		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.3779C>G	1.37:g.35871052C>G	ENSP00000322915:p.Ser1260*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Nonsense_Mutation	SNP	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH	p.S1260*	ENST00000314607.6	37	c.3779	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	39	7.848191	0.98522	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	.	.	.	5.95	5.04	0.67666	.	0.374986	0.23284	N	0.049872	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-3.9947	7.8863	0.29653	0.1597:0.7595:0.0:0.0808	.	.	.	.	X	1260;1171	.	ENSP00000322915:S1260X	S	+	2	0	ZMYM4	35643639	0.953000	0.32496	0.999000	0.59377	0.992000	0.81027	1.375000	0.34295	1.518000	0.48934	0.650000	0.86243	TCA	ZMYM4	-	NULL	ENSG00000146463		0.368	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	HGNC	protein_coding	OTTHUMT00000012207.3	71	0.00	0	C	NM_005095		35871052	35871052	+1	no_errors	ENST00000314607	ensembl	human	known	69_37n	nonsense	44	27.87	17	SNP	0.974	G
ZNF160	90338	genome.wustl.edu	37	19	53572089	53572089	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:53572089C>T	ENST00000429604.1	-	7	2113	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	ZNF160_ENST00000418871.1_Silent_p.K566K|ZNF160_ENST00000601421.1_Silent_p.K530K|ZNF160_ENST00000599056.1_Silent_p.K566K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	566					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATTCATTACACTTGTAAGGTT	0.398																																						dbGAP											0													87.0	88.0	87.0					19																	53572089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1698G>A	19.37:g.53572089C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.K566	ENST00000429604.1	37	c.1698	CCDS12859.1	19																																																																																			ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.398	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	65	0.00	0	C	NM_033288		53572089	53572089	-1	no_errors	ENST00000418871	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.119	T
ZNF160	90338	genome.wustl.edu	37	19	53572089	53572089	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:53572089C>T	ENST00000429604.1	-	7	2113	c.1698G>A	c.(1696-1698)aaG>aaA	p.K566K	ZNF160_ENST00000418871.1_Silent_p.K566K|ZNF160_ENST00000601421.1_Silent_p.K530K|ZNF160_ENST00000599056.1_Silent_p.K566K	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	566					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		ATTCATTACACTTGTAAGGTT	0.398																																						dbGAP											0													87.0	88.0	87.0					19																	53572089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.1698G>A	19.37:g.53572089C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	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.K566	ENST00000429604.1	37	c.1698	CCDS12859.1	19																																																																																			ZNF160	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000170949		0.398	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF160	HGNC	protein_coding	OTTHUMT00000463994.2	69	0.00	0	C	NM_033288		53572089	53572089	-1	no_errors	ENST00000418871	ensembl	human	known	69_37n	silent	45	21.05	12	SNP	0.119	T
ZNF165	7718	genome.wustl.edu	37	6	28056849	28056849	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:28056849C>T	ENST00000377325.1	+	4	1615	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	353					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)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAGCTTTCAGGCACAGCT	0.413																																						dbGAP											0													53.0	53.0	53.0					6																	28056849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1059C>T	6.37:g.28056849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		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.F353	ENST00000377325.1	37	c.1059	CCDS4643.1	6																																																																																			ZNF165	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197279		0.413	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	40	0.00	0	C	NM_003447		28056849	28056849	+1	no_errors	ENST00000377325	ensembl	human	known	69_37n	silent	45	18.18	10	SNP	0.994	T
ZNF165	7718	genome.wustl.edu	37	6	28056849	28056849	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:28056849C>T	ENST00000377325.1	+	4	1615	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	353					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)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGAAAGCTTTCAGGCACAGCT	0.413																																						dbGAP											0													53.0	53.0	53.0					6																	28056849		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	ENST00000377325.1:c.1059C>T	6.37:g.28056849C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		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.F353	ENST00000377325.1	37	c.1059	CCDS4643.1	6																																																																																			ZNF165	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197279		0.413	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF165	HGNC	protein_coding	OTTHUMT00000040173.1	52	0.00	0	C	NM_003447		28056849	28056849	+1	no_errors	ENST00000377325	ensembl	human	known	69_37n	silent	45	18.18	10	SNP	0.994	T
ZNF239	8187	genome.wustl.edu	37	10	44052785	44052785	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr10:44052785G>A	ENST00000306006.6	-	2	1395	c.743C>T	c.(742-744)tCg>tTg	p.S248L	ZNF239_ENST00000426961.1_Missense_Mutation_p.S248L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S248L|ZNF239_ENST00000374446.2_Missense_Mutation_p.S248L|ZNF239_ENST00000491188.1_5'Flank	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAGCAGACTCGAGCTCCTTGT	0.478																																						dbGAP											0													142.0	140.0	140.0					10																	44052785		2107	4250	6357	-	-	-	SO:0001583	missense	0			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.743C>T	10.37:g.44052785G>A	ENSP00000307774:p.Ser248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S248L	ENST00000306006.6	37	c.743	CCDS41502.1	10	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974471	0.53720	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	3.58	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12347	0.0300	M	0.80332	2.49	0.09310	N	1	D	0.54207	0.965	B	0.42087	0.375	T	0.18871	-1.0323	9	0.72032	D	0.01	-5.6768	6.0372	0.19714	0.1065:0.0:0.7049:0.1886	.	248	Q16600	ZN239_HUMAN	L	248	ENSP00000307774:S248L;ENSP00000363569:S248L;ENSP00000398202:S248L;ENSP00000443907:S248L	ENSP00000307774:S248L	S	-	2	0	ZNF239	43372791	0.000000	0.05858	0.494000	0.27515	0.980000	0.70556	0.156000	0.16382	0.490000	0.27771	0.591000	0.81541	TCG	ZNF239	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196793		0.478	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF239	HGNC	protein_coding	OTTHUMT00000047710.1	77	0.00	0	G			44052785	44052785	-1	no_errors	ENST00000306006	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	0.007	A
ZNF239	8187	genome.wustl.edu	37	10	44052785	44052785	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr10:44052785G>A	ENST00000306006.6	-	2	1395	c.743C>T	c.(742-744)tCg>tTg	p.S248L	ZNF239_ENST00000426961.1_Missense_Mutation_p.S248L|ZNF239_ENST00000535642.1_Missense_Mutation_p.S248L|ZNF239_ENST00000374446.2_Missense_Mutation_p.S248L|ZNF239_ENST00000491188.1_5'Flank	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	248					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AAGCAGACTCGAGCTCCTTGT	0.478																																						dbGAP											0													142.0	140.0	140.0					10																	44052785		2107	4250	6357	-	-	-	SO:0001583	missense	0			X82125	CCDS41502.1	10q11.22-q11.23	2013-01-08			ENSG00000196793	ENSG00000196793		"""Zinc fingers, C2H2-type"""	13031	protein-coding gene	gene with protein product		601069				8903737, 8587123	Standard	NM_005674		Approved	MOK2, HOK-2	uc009xmk.3	Q16600	OTTHUMG00000018033	ENST00000306006.6:c.743C>T	10.37:g.44052785G>A	ENSP00000307774:p.Ser248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1G9|Q8TAS5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S248L	ENST00000306006.6	37	c.743	CCDS41502.1	10	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974471	0.53720	.	.	ENSG00000196793	ENST00000306006;ENST00000374446;ENST00000426961;ENST00000535642;ENST00000339962	T;T;T;T	0.07908	3.15;3.15;3.15;3.15	3.58	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12347	0.0300	M	0.80332	2.49	0.09310	N	1	D	0.54207	0.965	B	0.42087	0.375	T	0.18871	-1.0323	9	0.72032	D	0.01	-5.6768	6.0372	0.19714	0.1065:0.0:0.7049:0.1886	.	248	Q16600	ZN239_HUMAN	L	248	ENSP00000307774:S248L;ENSP00000363569:S248L;ENSP00000398202:S248L;ENSP00000443907:S248L	ENSP00000307774:S248L	S	-	2	0	ZNF239	43372791	0.000000	0.05858	0.494000	0.27515	0.980000	0.70556	0.156000	0.16382	0.490000	0.27771	0.591000	0.81541	TCG	ZNF239	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196793		0.478	ZNF239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF239	HGNC	protein_coding	OTTHUMT00000047710.1	89	0.00	0	G			44052785	44052785	-1	no_errors	ENST00000306006	ensembl	human	known	69_37n	missense	41	30.51	18	SNP	0.007	A
ZNF490	57474	genome.wustl.edu	37	19	12691625	12691625	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:12691625C>G	ENST00000311437.6	-	5	1386	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.K55N|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTACCACATTCTTTACATTCG	0.398																																						dbGAP											0													109.0	109.0	109.0					19																	12691625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1264G>C	19.37:g.12691625C>G	ENSP00000311521:p.Glu422Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E422Q	ENST00000311437.6	37	c.1264	CCDS12272.1	19	.	.	.	.	.	.	.	.	.	.	C	2.052	-0.417410	0.04766	.	.	ENSG00000188033	ENST00000311437	T	0.07444	3.19	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.16233	0.39	0.09310	N	0.999998	B	0.12013	0.005	B	0.12837	0.008	T	0.45381	-0.9265	9	0.02654	T	1	.	4.743	0.13024	0.0:0.6189:0.2191:0.162	.	422	Q9ULM2	ZN490_HUMAN	Q	422	ENSP00000311521:E422Q	ENSP00000311521:E422Q	E	-	1	0	ZNF490	12552625	0.000000	0.05858	0.571000	0.28486	0.915000	0.54546	-0.987000	0.03743	-0.560000	0.06102	-0.479000	0.04858	GAA	ZNF490	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188033		0.398	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF490	HGNC	protein_coding	OTTHUMT00000344073.1	42	0.00	0	C	NM_020714		12691625	12691625	-1	no_errors	ENST00000311437	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.528	G
ZNF490	57474	genome.wustl.edu	37	19	12691625	12691625	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:12691625C>G	ENST00000311437.6	-	5	1386	c.1264G>C	c.(1264-1266)Gaa>Caa	p.E422Q	CTD-2192J16.20_ENST00000593682.1_Missense_Mutation_p.K55N|ZNF490_ENST00000465656.1_5'Flank	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTACCACATTCTTTACATTCG	0.398																																						dbGAP											0													109.0	109.0	109.0					19																	12691625		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033024	CCDS12272.1	19p13.2	2013-01-08			ENSG00000188033	ENSG00000188033		"""Zinc fingers, C2H2-type"", ""-"""	23705	protein-coding gene	gene with protein product							Standard	NM_020714		Approved	KIAA1198	uc002mtz.2	Q9ULM2	OTTHUMG00000156398	ENST00000311437.6:c.1264G>C	19.37:g.12691625C>G	ENSP00000311521:p.Glu422Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E422Q	ENST00000311437.6	37	c.1264	CCDS12272.1	19	.	.	.	.	.	.	.	.	.	.	C	2.052	-0.417410	0.04766	.	.	ENSG00000188033	ENST00000311437	T	0.07444	3.19	0.996	-1.99	0.07457	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03434	0.0099	N	0.16233	0.39	0.09310	N	0.999998	B	0.12013	0.005	B	0.12837	0.008	T	0.45381	-0.9265	9	0.02654	T	1	.	4.743	0.13024	0.0:0.6189:0.2191:0.162	.	422	Q9ULM2	ZN490_HUMAN	Q	422	ENSP00000311521:E422Q	ENSP00000311521:E422Q	E	-	1	0	ZNF490	12552625	0.000000	0.05858	0.571000	0.28486	0.915000	0.54546	-0.987000	0.03743	-0.560000	0.06102	-0.479000	0.04858	GAA	ZNF490	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000188033		0.398	ZNF490-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF490	HGNC	protein_coding	OTTHUMT00000344073.1	44	0.00	0	C	NM_020714		12691625	12691625	-1	no_errors	ENST00000311437	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.528	G
ZNF521	25925	genome.wustl.edu	37	18	22804518	22804518	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:22804518C>G	ENST00000361524.3	-	4	3512	c.3364G>C	c.(3364-3366)Gag>Cag	p.E1122Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E1122Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.E902Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCAGATTCTCATTCTGGCCC	0.547			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													123.0	109.0	114.0					18																	22804518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3364G>C	18.37:g.22804518C>G	ENSP00000354794:p.Glu1122Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1122Q	ENST00000361524.3	37	c.3364	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249454	0.39797	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09445	2.98;3.01	5.98	5.98	0.97165	.	0.050030	0.85682	D	0.000000	T	0.10121	0.0248	N	0.19112	0.55	0.43637	D	0.996035	B	0.26635	0.155	B	0.28784	0.094	T	0.33137	-0.9880	10	0.21540	T	0.41	-38.5765	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1122	Q96K83	ZN521_HUMAN	Q	1122;1156;1122	ENSP00000354794:E1122Q;ENSP00000382352:E1122Q	ENSP00000354794:E1122Q	E	-	1	0	ZNF521	21058516	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.482000	0.81143	2.835000	0.97688	0.650000	0.86243	GAG	ZNF521	-	NULL	ENSG00000198795		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	87	0.00	0	C	NM_015461		22804518	22804518	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	G
ZNF521	25925	genome.wustl.edu	37	18	22804518	22804518	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:22804518C>G	ENST00000361524.3	-	4	3512	c.3364G>C	c.(3364-3366)Gag>Cag	p.E1122Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.E1122Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.E902Q	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1122					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCAGATTCTCATTCTGGCCC	0.547			T	PAX5	ALL																																	dbGAP		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													123.0	109.0	114.0					18																	22804518		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.3364G>C	18.37:g.22804518C>G	ENSP00000354794:p.Glu1122Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1122Q	ENST00000361524.3	37	c.3364	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	C	13.48	2.249454	0.39797	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.09445	2.98;3.01	5.98	5.98	0.97165	.	0.050030	0.85682	D	0.000000	T	0.10121	0.0248	N	0.19112	0.55	0.43637	D	0.996035	B	0.26635	0.155	B	0.28784	0.094	T	0.33137	-0.9880	10	0.21540	T	0.41	-38.5765	20.4581	0.99154	0.0:1.0:0.0:0.0	.	1122	Q96K83	ZN521_HUMAN	Q	1122;1156;1122	ENSP00000354794:E1122Q;ENSP00000382352:E1122Q	ENSP00000354794:E1122Q	E	-	1	0	ZNF521	21058516	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	7.482000	0.81143	2.835000	0.97688	0.650000	0.86243	GAG	ZNF521	-	NULL	ENSG00000198795		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	95	0.00	0	C	NM_015461		22804518	22804518	-1	no_errors	ENST00000361524	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	1.000	G
ZNF532	55205	genome.wustl.edu	37	18	56601829	56601829	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr18:56601829G>A	ENST00000336078.4	+	5	3287	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	ZNF532_ENST00000589288.1_Silent_p.T837T|ZNF532_ENST00000591808.1_Silent_p.T837T|ZNF532_ENST00000591230.1_Silent_p.T837T|ZNF532_ENST00000591083.1_Silent_p.T837T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCACTACACGAGGAGAGTTG	0.493																																						dbGAP											0													118.0	101.0	107.0					18																	56601829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2511G>A	18.37:g.56601829G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T837	ENST00000336078.4	37	c.2511	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.493	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	26	0.00	0	G	NM_018181		56601829	56601829	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.565	A
ZNF532	55205	genome.wustl.edu	37	18	56601829	56601829	+	Silent	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr18:56601829G>A	ENST00000336078.4	+	5	3287	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	ZNF532_ENST00000589288.1_Silent_p.T837T|ZNF532_ENST00000591808.1_Silent_p.T837T|ZNF532_ENST00000591230.1_Silent_p.T837T|ZNF532_ENST00000591083.1_Silent_p.T837T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	837					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGCACTACACGAGGAGAGTTG	0.493																																						dbGAP											0													118.0	101.0	107.0					18																	56601829		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2511G>A	18.37:g.56601829G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T837	ENST00000336078.4	37	c.2511	CCDS11969.1	18																																																																																			ZNF532	-	NULL	ENSG00000074657		0.493	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	25	0.00	0	G	NM_018181		56601829	56601829	+1	no_errors	ENST00000336078	ensembl	human	known	69_37n	silent	19	26.92	7	SNP	0.565	A
ZNF568	374900	genome.wustl.edu	37	19	37488169	37488169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:37488169C>T	ENST00000455427.2	+	9	1713	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATTCGACATCAGAGTGTCCA	0.448																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1384C>T	19.37:g.37488169C>T	ENSP00000413396:p.Gln462*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q462*	ENST00000455427.2	37	c.1384	CCDS56093.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.110898	0.97291	.	.	ENSG00000198453	ENST00000444991;ENST00000455427	.	.	.	3.89	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.5618	0.39373	0.0:0.8933:0.0:0.1067	.	.	.	.	X	526;462	.	ENSP00000389794:Q526X	Q	+	1	0	ZNF568	42180009	.	.	0.966000	0.40874	0.950000	0.60333	.	.	0.991000	0.38814	0.597000	0.82753	CAG	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.448	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	39	0.00	0	C	NM_198539		37488169	37488169	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	nonsense	27	28.95	11	SNP	0.999	T
ZNF568	374900	genome.wustl.edu	37	19	37488169	37488169	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:37488169C>T	ENST00000455427.2	+	9	1713	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*		NM_001204839.1	NP_001191768.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	493					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATTCGACATCAGAGTGTCCA	0.448																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000455427.2:c.1384C>T	19.37:g.37488169C>T	ENSP00000413396:p.Gln462*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q462*	ENST00000455427.2	37	c.1384	CCDS56093.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.110898	0.97291	.	.	ENSG00000198453	ENST00000444991;ENST00000455427	.	.	.	3.89	2.85	0.33270	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.5618	0.39373	0.0:0.8933:0.0:0.1067	.	.	.	.	X	526;462	.	ENSP00000389794:Q526X	Q	+	1	0	ZNF568	42180009	.	.	0.966000	0.40874	0.950000	0.60333	.	.	0.991000	0.38814	0.597000	0.82753	CAG	ZNF568	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198453		0.448	ZNF568-007	KNOWN	basic|CCDS	protein_coding	ZNF568	HGNC	protein_coding	OTTHUMT00000457465.1	52	0.00	0	C	NM_198539		37488169	37488169	+1	no_errors	ENST00000455427	ensembl	human	known	69_37n	nonsense	27	28.95	11	SNP	0.999	T
ZNF611	81856	genome.wustl.edu	37	19	53208824	53208824	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:53208824G>A	ENST00000319783.1	-	7	1800	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ZNF611_ENST00000540744.1_Missense_Mutation_p.S495L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S426L|ZNF611_ENST00000602162.1_Missense_Mutation_p.S426L|ZNF611_ENST00000543227.1_Missense_Mutation_p.S495L|ZNF611_ENST00000595798.1_Missense_Mutation_p.S426L|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAAAAGATCTGAATTTTGACC	0.368																																						dbGAP											0													91.0	93.0	93.0					19																	53208824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1484C>T	19.37:g.53208824G>A	ENSP00000322427:p.Ser495Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S495L	ENST00000319783.1	37	c.1484	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	9.007	0.981621	0.18812	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.01705	4.68;4.68;4.68;4.68	1.51	0.0366	0.14192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	M	0.72353	2.195	0.09310	N	1	P	0.39847	0.691	B	0.37833	0.259	T	0.39881	-0.9592	9	0.62326	D	0.03	.	4.8023	0.13303	0.0:0.2224:0.5547:0.2229	.	495	Q8N823	ZN611_HUMAN	L	495;495;426;495	ENSP00000437616:S495L;ENSP00000439211:S495L;ENSP00000443505:S426L;ENSP00000322427:S495L	ENSP00000322427:S495L	S	-	2	0	ZNF611	57900636	0.000000	0.05858	0.012000	0.15200	0.112000	0.19704	-1.149000	0.03182	0.793000	0.33875	0.205000	0.17691	TCA	ZNF611	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213020		0.368	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	46	0.00	0	G	NM_030972		53208824	53208824	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.000	A
ZNF611	81856	genome.wustl.edu	37	19	53208824	53208824	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:53208824G>A	ENST00000319783.1	-	7	1800	c.1484C>T	c.(1483-1485)tCa>tTa	p.S495L	ZNF611_ENST00000540744.1_Missense_Mutation_p.S495L|ZNF611_ENST00000453741.2_Missense_Mutation_p.S426L|ZNF611_ENST00000602162.1_Missense_Mutation_p.S426L|ZNF611_ENST00000543227.1_Missense_Mutation_p.S495L|ZNF611_ENST00000595798.1_Missense_Mutation_p.S426L|ZNF611_ENST00000602046.1_5'Flank	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	495					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TAAAAGATCTGAATTTTGACC	0.368																																						dbGAP											0													91.0	93.0	93.0					19																	53208824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1484C>T	19.37:g.53208824G>A	ENSP00000322427:p.Ser495Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRD5|Q69YG9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S495L	ENST00000319783.1	37	c.1484	CCDS12855.1	19	.	.	.	.	.	.	.	.	.	.	.	9.007	0.981621	0.18812	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.01705	4.68;4.68;4.68;4.68	1.51	0.0366	0.14192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02610	0.0079	M	0.72353	2.195	0.09310	N	1	P	0.39847	0.691	B	0.37833	0.259	T	0.39881	-0.9592	9	0.62326	D	0.03	.	4.8023	0.13303	0.0:0.2224:0.5547:0.2229	.	495	Q8N823	ZN611_HUMAN	L	495;495;426;495	ENSP00000437616:S495L;ENSP00000439211:S495L;ENSP00000443505:S426L;ENSP00000322427:S495L	ENSP00000322427:S495L	S	-	2	0	ZNF611	57900636	0.000000	0.05858	0.012000	0.15200	0.112000	0.19704	-1.149000	0.03182	0.793000	0.33875	0.205000	0.17691	TCA	ZNF611	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213020		0.368	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF611	HGNC	protein_coding	OTTHUMT00000337612.1	48	0.00	0	G	NM_030972		53208824	53208824	-1	no_errors	ENST00000319783	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.000	A
ZNF586	54807	genome.wustl.edu	37	19	58290814	58290814	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:58290814G>C	ENST00000396154.2	+	3	1032	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Missense_Mutation_p.E244Q	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTAGAGAAAGGCCTTA	0.458																																						dbGAP											0													59.0	64.0	62.0					19																	58290814		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.859G>C	19.37:g.58290814G>C	ENSP00000379458:p.Glu287Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E287Q	ENST00000396154.2	37	c.859	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830616	0.71258	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.25912	1.77;1.77	1.65	1.65	0.23941	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39200	0.1069	L	0.51914	1.62	0.24460	N	0.994441	D	0.67145	0.996	D	0.75484	0.986	T	0.09335	-1.0679	9	0.87932	D	0	.	5.9216	0.19086	0.1828:0.0:0.8172:0.0	.	287	Q9NXT0	ZN586_HUMAN	Q	287;244;287	ENSP00000375583:E244Q;ENSP00000379458:E287Q	ENSP00000375583:E244Q	E	+	1	0	ZNF586	62982626	0.996000	0.38824	0.660000	0.29694	0.820000	0.46376	2.027000	0.41078	0.879000	0.35944	0.655000	0.94253	GAA	ZNF586	-	pfscan_Znf_C2H2	ENSG00000083828		0.458	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	58	0.00	0	G	NM_017652		58290814	58290814	+1	no_errors	ENST00000396154	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.991	C
ZNF586	54807	genome.wustl.edu	37	19	58290814	58290814	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:58290814G>C	ENST00000396154.2	+	3	1032	c.859G>C	c.(859-861)Gaa>Caa	p.E287Q	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000391702.3_Missense_Mutation_p.E244Q	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCACACTAGAGAAAGGCCTTA	0.458																																						dbGAP											0													59.0	64.0	62.0					19																	58290814		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.859G>C	19.37:g.58290814G>C	ENSP00000379458:p.Glu287Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E287Q	ENST00000396154.2	37	c.859	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830616	0.71258	.	.	ENSG00000083828	ENST00000449441;ENST00000391702;ENST00000396154	T;T	0.25912	1.77;1.77	1.65	1.65	0.23941	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39200	0.1069	L	0.51914	1.62	0.24460	N	0.994441	D	0.67145	0.996	D	0.75484	0.986	T	0.09335	-1.0679	9	0.87932	D	0	.	5.9216	0.19086	0.1828:0.0:0.8172:0.0	.	287	Q9NXT0	ZN586_HUMAN	Q	287;244;287	ENSP00000375583:E244Q;ENSP00000379458:E287Q	ENSP00000375583:E244Q	E	+	1	0	ZNF586	62982626	0.996000	0.38824	0.660000	0.29694	0.820000	0.46376	2.027000	0.41078	0.879000	0.35944	0.655000	0.94253	GAA	ZNF586	-	pfscan_Znf_C2H2	ENSG00000083828		0.458	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	53	0.00	0	G	NM_017652		58290814	58290814	+1	no_errors	ENST00000396154	ensembl	human	known	69_37n	missense	45	21.05	12	SNP	0.991	C
ZNF644	84146	genome.wustl.edu	37	1	91383780	91383780	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:91383780C>T	ENST00000370440.1	-	5	3906				ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACATATTTTTCTAGAGAGGTC	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3689-69G>A	1.37:g.91383780C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	RNA	SNP	-	NULL	ENST00000370440.1	37	NULL	CCDS731.1	1																																																																																			ZNF644	-	-	ENSG00000122482		0.343	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	20	0.00	0	C	NM_032186		91383780	91383780	-1	no_errors	ENST00000482709	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.037	T
ZNF648	127665	genome.wustl.edu	37	1	182025764	182025764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:182025764G>T	ENST00000339948.3	-	2	1589	c.1382C>A	c.(1381-1383)tCg>tAg	p.S461*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACGAGGCGCGAGGGCTGCGC	0.662																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0													35.0	33.0	34.0					1																	182025764		2200	4299	6499	-	-	-	SO:0001587	stop_gained	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1382C>A	1.37:g.182025764G>T	ENSP00000344129:p.Ser461*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP16	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S461*	ENST00000339948.3	37	c.1382	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.799561	0.97849	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.77	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6397	0.12543	0.2971:0.0:0.7029:0.0	.	.	.	.	X	461	.	ENSP00000344129:S461X	S	-	2	0	ZNF648	180292387	0.201000	0.23410	0.998000	0.56505	0.996000	0.88848	1.907000	0.39897	0.715000	0.32103	0.655000	0.94253	TCG	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179930		0.662	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	34	0.00	0	G	XM_060597		182025764	182025764	-1	no_errors	ENST00000339948	ensembl	human	known	69_37n	nonsense	28	15.15	5	SNP	1.000	T
ZNF648	127665	genome.wustl.edu	37	1	182025764	182025764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:182025764G>T	ENST00000339948.3	-	2	1589	c.1382C>A	c.(1381-1383)tCg>tAg	p.S461*		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACGAGGCGCGAGGGCTGCGC	0.662																																					NSCLC(71;908 1374 5429 20458 35642)	dbGAP											0													35.0	33.0	34.0					1																	182025764		2200	4299	6499	-	-	-	SO:0001587	stop_gained	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.1382C>A	1.37:g.182025764G>T	ENSP00000344129:p.Ser461*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP16	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S461*	ENST00000339948.3	37	c.1382	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	38	6.799561	0.97849	.	.	ENSG00000179930	ENST00000339948	.	.	.	2.77	1.85	0.25348	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6397	0.12543	0.2971:0.0:0.7029:0.0	.	.	.	.	X	461	.	ENSP00000344129:S461X	S	-	2	0	ZNF648	180292387	0.201000	0.23410	0.998000	0.56505	0.996000	0.88848	1.907000	0.39897	0.715000	0.32103	0.655000	0.94253	TCG	ZNF648	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000179930		0.662	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	35	0.00	0	G	XM_060597		182025764	182025764	-1	no_errors	ENST00000339948	ensembl	human	known	69_37n	nonsense	28	15.15	5	SNP	1.000	T
ZNF668	79759	genome.wustl.edu	37	16	31073559	31073559	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:31073559C>T	ENST00000538906.1	-	3	1474	c.690G>A	c.(688-690)ggG>ggA	p.G230G	ZNF668_ENST00000535577.1_Silent_p.G230G|ZNF668_ENST00000300849.4_Silent_p.G230G|ZNF668_ENST00000426488.2_Silent_p.G253G|ZNF668_ENST00000394983.2_Silent_p.G230G|ZNF668_ENST00000539836.3_Silent_p.G253G|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGAAGCTCTTCCCGCACTCGG	0.677																																					Colon(181;1111 1980 5060 10512 25785)	dbGAP											0													28.0	33.0	31.0					16																	31073559		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.690G>A	16.37:g.31073559C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.E70K	ENST00000538906.1	37	c.208	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295333	0.40594	.	.	ENSG00000167394	ENST00000414399	T	0.52983	0.64	5.02	-2.27	0.06846	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51276	-0.8726	6	0.87932	D	0	-30.7688	2.1414	0.03776	0.1085:0.3913:0.1723:0.3279	.	.	.	.	K	70	ENSP00000412340:E70K	ENSP00000412340:E70K	E	-	1	0	ZNF668	30981060	0.066000	0.20996	0.991000	0.47740	0.973000	0.67179	-1.001000	0.03690	-0.203000	0.10251	-0.137000	0.14449	GAA	ZNF668	-	NULL	ENSG00000167394		0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	82	0.00	0	C	NM_024706		31073559	31073559	-1	no_stop_codon	ENST00000414399	ensembl	human	novel	69_37n	missense	70	10.26	8	SNP	0.999	T
ZNF668	79759	genome.wustl.edu	37	16	31073559	31073559	+	Silent	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:31073559C>T	ENST00000538906.1	-	3	1474	c.690G>A	c.(688-690)ggG>ggA	p.G230G	ZNF668_ENST00000535577.1_Silent_p.G230G|ZNF668_ENST00000300849.4_Silent_p.G230G|ZNF668_ENST00000426488.2_Silent_p.G253G|ZNF668_ENST00000394983.2_Silent_p.G230G|ZNF668_ENST00000539836.3_Silent_p.G253G|ZNF668_ENST00000564456.1_5'Flank	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGAAGCTCTTCCCGCACTCGG	0.677																																					Colon(181;1111 1980 5060 10512 25785)	dbGAP											0													28.0	33.0	31.0					16																	31073559		2196	4300	6496	-	-	-	SO:0001819	synonymous_variant	0				CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.690G>A	16.37:g.31073559C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.E70K	ENST00000538906.1	37	c.208	CCDS10701.1	16	.	.	.	.	.	.	.	.	.	.	C	13.63	2.295333	0.40594	.	.	ENSG00000167394	ENST00000414399	T	0.52983	0.64	5.02	-2.27	0.06846	.	.	.	.	.	T	0.44973	0.1319	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51276	-0.8726	6	0.87932	D	0	-30.7688	2.1414	0.03776	0.1085:0.3913:0.1723:0.3279	.	.	.	.	K	70	ENSP00000412340:E70K	ENSP00000412340:E70K	E	-	1	0	ZNF668	30981060	0.066000	0.20996	0.991000	0.47740	0.973000	0.67179	-1.001000	0.03690	-0.203000	0.10251	-0.137000	0.14449	GAA	ZNF668	-	NULL	ENSG00000167394		0.677	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF668	HGNC	protein_coding	OTTHUMT00000108516.2	52	0.00	0	C	NM_024706		31073559	31073559	-1	no_stop_codon	ENST00000414399	ensembl	human	novel	69_37n	missense	70	10.26	8	SNP	0.999	T
ZNF672	79894	genome.wustl.edu	37	1	249142293	249142293	+	Missense_Mutation	SNP	C	C	T	rs371348856		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:249142293C>T	ENST00000306562.3	+	4	1566	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCGCCATCGGCGCAGCCA	0.687																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.820C>T	1.37:g.249142293C>T	ENSP00000421915:p.Arg274Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274W	ENST00000306562.3	37	c.820	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853186	0.51270	.	.	ENSG00000171161	ENST00000306562	T	0.18810	2.19	3.32	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.522525	0.14222	U	0.333358	T	0.31071	0.0785	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.51229	0.663	T	0.12218	-1.0556	9	.	.	.	.	9.6637	0.39972	0.3584:0.6416:0.0:0.0	.	274	Q499Z4	ZN672_HUMAN	W	274	ENSP00000421915:R274W	.	R	+	1	2	ZNF672	247108916	0.022000	0.18835	0.603000	0.28903	0.566000	0.35808	0.651000	0.24873	0.217000	0.20800	0.561000	0.74099	CGG	ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	10	0.00	0	C	NM_024836		249142293	249142293	+1	no_errors	ENST00000306562	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.337	T
ZNF672	79894	genome.wustl.edu	37	1	249142293	249142293	+	Missense_Mutation	SNP	C	C	T	rs371348856		TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:249142293C>T	ENST00000306562.3	+	4	1566	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_024836.1	NP_079112.1	Q499Z4	ZN672_HUMAN	zinc finger protein 672	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GCTGCGCCATCGGCGCAGCCA	0.687																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK027476	CCDS1638.1	1q44	2013-01-08			ENSG00000171161	ENSG00000171161		"""Zinc fingers, C2H2-type"""	26179	protein-coding gene	gene with protein product	"""hypothetical protein FLJ22301"""					12477932	Standard	NM_024836		Approved	FLJ22301	uc001iex.3	Q499Z4	OTTHUMG00000040377	ENST00000306562.3:c.820C>T	1.37:g.249142293C>T	ENSP00000421915:p.Arg274Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96H65|Q96IM3|Q9H6G5	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R274W	ENST00000306562.3	37	c.820	CCDS1638.1	1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853186	0.51270	.	.	ENSG00000171161	ENST00000306562	T	0.18810	2.19	3.32	1.34	0.21922	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.522525	0.14222	U	0.333358	T	0.31071	0.0785	M	0.70787	2.145	0.09310	N	1	D	0.69078	0.997	P	0.51229	0.663	T	0.12218	-1.0556	9	.	.	.	.	9.6637	0.39972	0.3584:0.6416:0.0:0.0	.	274	Q499Z4	ZN672_HUMAN	W	274	ENSP00000421915:R274W	.	R	+	1	2	ZNF672	247108916	0.022000	0.18835	0.603000	0.28903	0.566000	0.35808	0.651000	0.24873	0.217000	0.20800	0.561000	0.74099	CGG	ZNF672	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171161		0.687	ZNF672-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF672	HGNC	protein_coding	OTTHUMT00000097125.2	18	0.00	0	C	NM_024836		249142293	249142293	+1	no_errors	ENST00000306562	ensembl	human	known	69_37n	missense	9	30.77	4	SNP	0.337	T
ZNF7	7553	genome.wustl.edu	37	8	146063470	146063470	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr8:146063470C>T	ENST00000528372.1	+	4	487				ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000446747.2_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000528130.1_Missense_Mutation_p.P109S			P17097	ZNF7_HUMAN	zinc finger protein 7						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		agggaaggatcctgtcctgcc	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.247+578C>T	8.37:g.146063470C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P109S	ENST00000528372.1	37	c.325	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	C	7.125	0.578695	0.13686	.	.	ENSG00000147789	ENST00000528130	T	0.01572	4.76	1.73	-0.261	0.12963	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.46952	-0.9154	8	0.05436	T	0.98	.	2.1434	0.03780	0.3084:0.4911:0.0:0.2005	.	109	E9PM16	.	S	109	ENSP00000433218:P109S	ENSP00000433218:P109S	P	+	1	0	ZNF7	146034274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-0.076000	0.12775	-0.521000	0.04368	CCT	ZNF7	-	NULL	ENSG00000147789		0.577	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	94	0.00	0	C	NM_003416		146063470	146063470	+1	no_errors	ENST00000528130	ensembl	human	putative	69_37n	missense	41	31.67	19	SNP	0.000	T
ZNF7	7553	genome.wustl.edu	37	8	146063470	146063470	+	Intron	SNP	C	C	T			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr8:146063470C>T	ENST00000528372.1	+	4	487				ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000446747.2_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000528130.1_Missense_Mutation_p.P109S			P17097	ZNF7_HUMAN	zinc finger protein 7						multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		agggaaggatcctgtcctgcc	0.577																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.247+578C>T	8.37:g.146063470C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DT08|D3DWN6|P17015|Q8N8Y4	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.P109S	ENST00000528372.1	37	c.325	CCDS6435.1	8	.	.	.	.	.	.	.	.	.	.	C	7.125	0.578695	0.13686	.	.	ENSG00000147789	ENST00000528130	T	0.01572	4.76	1.73	-0.261	0.12963	.	.	.	.	.	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.46952	-0.9154	8	0.05436	T	0.98	.	2.1434	0.03780	0.3084:0.4911:0.0:0.2005	.	109	E9PM16	.	S	109	ENSP00000433218:P109S	ENSP00000433218:P109S	P	+	1	0	ZNF7	146034274	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.784000	0.04633	-0.076000	0.12775	-0.521000	0.04368	CCT	ZNF7	-	NULL	ENSG00000147789		0.577	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF7	HGNC	protein_coding	OTTHUMT00000382660.1	67	0.00	0	C	NM_003416		146063470	146063470	+1	no_errors	ENST00000528130	ensembl	human	putative	69_37n	missense	41	31.67	19	SNP	0.000	T
ZNF747	65988	genome.wustl.edu	37	16	30543991	30543991	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr16:30543991G>A	ENST00000252799.3	-	0	1632				ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000568028.1_Silent_p.F274F|ZNF747_ENST00000569360.1_Silent_p.F274F|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000535210.1_Silent_p.F274F|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TCTTCAGGCCGAAGCAGCGGC	0.701																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*389C>T	16.37:g.30543991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F274	ENST00000252799.3	37	c.822	CCDS10682.1	16																																																																																			ZNF747	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169955		0.701	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	94	0.00	0	G	NM_023931		30543991	30543991	-1	no_errors	ENST00000535210	ensembl	human	known	69_37n	silent	74	13.95	12	SNP	0.001	A
ZNF747	65988	genome.wustl.edu	37	16	30543991	30543991	+	3'UTR	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr16:30543991G>A	ENST00000252799.3	-	0	1632				ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000568028.1_Silent_p.F274F|ZNF747_ENST00000569360.1_Silent_p.F274F|AC002310.12_ENST00000457283.3_RNA|ZNF747_ENST00000535210.1_Silent_p.F274F|AC002310.12_ENST00000569752.1_RNA	NM_023931.2	NP_076420.1	Q9BV97	ZN747_HUMAN	zinc finger protein 747						regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			kidney(1)|lung(3)|prostate(1)	5						TCTTCAGGCCGAAGCAGCGGC	0.701																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC001361	CCDS10682.1	16p11.2	2013-01-08			ENSG00000169955	ENSG00000169955		"""Zinc fingers, C2H2-type"", ""-"""	28350	protein-coding gene	gene with protein product						10493829	Standard	NM_023931		Approved	MGC2474	uc002dyn.3	Q9BV97	OTTHUMG00000132401	ENST00000252799.3:c.*389C>T	16.37:g.30543991G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K827|B7WNU3|Q59FB4|Q96NW0	Silent	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F274	ENST00000252799.3	37	c.822	CCDS10682.1	16																																																																																			ZNF747	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169955		0.701	ZNF747-001	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	ZNF747	HGNC	protein_coding	OTTHUMT00000255532.2	79	0.00	0	G	NM_023931		30543991	30543991	-1	no_errors	ENST00000535210	ensembl	human	known	69_37n	silent	74	13.95	12	SNP	0.001	A
ZNF93	81931	genome.wustl.edu	37	19	20011812	20011812	+	5'Flank	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr19:20011812C>G	ENST00000343769.5	+	0	0				AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592613.1_3'UTR|ZNF93_ENST00000592160.1_5'UTR|ZNF93_ENST00000591366.1_5'UTR	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GTCCTGTGCTCCTACAGGCCC	0.607																																						dbGAP											0													25.0	24.0	25.0					19																	20011812		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371		19.37:g.20011812C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	RNA	SNP	-	NULL	ENST00000343769.5	37	NULL	CCDS32973.1	19																																																																																			ZNF93	-	-	ENSG00000184635		0.607	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	61	0.00	0	C	NM_031218		20011812	20011812	+1	no_errors	ENST00000589903	ensembl	human	known	69_37n	rna	47	24.19	15	SNP	0.002	G
ZNF93	81931	genome.wustl.edu	37	19	20011812	20011812	+	5'Flank	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr19:20011812C>G	ENST00000343769.5	+	0	0				AC007204.2_ENST00000592245.1_lincRNA|ZNF93_ENST00000592613.1_3'UTR|ZNF93_ENST00000592160.1_5'UTR|ZNF93_ENST00000591366.1_5'UTR	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GTCCTGTGCTCCTACAGGCCC	0.607																																						dbGAP											0													25.0	24.0	25.0					19																	20011812		692	1591	2283	-	-	-	SO:0001631	upstream_gene_variant	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371		19.37:g.20011812C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	RNA	SNP	-	NULL	ENST00000343769.5	37	NULL	CCDS32973.1	19																																																																																			ZNF93	-	-	ENSG00000184635		0.607	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	43	0.00	0	C	NM_031218		20011812	20011812	+1	no_errors	ENST00000589903	ensembl	human	known	69_37n	rna	47	24.19	15	SNP	0.002	G
ZSCAN16	80345	genome.wustl.edu	37	6	28093431	28093431	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:28093431G>C	ENST00000340487.4	+	2	359	c.210G>C	c.(208-210)ctG>ctC	p.L70L	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	70	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						GTCAGTGGCTGAGGCCAGAAT	0.542																																						dbGAP											0													150.0	146.0	147.0					6																	28093431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.210G>C	6.37:g.28093431G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H6K2	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.L70	ENST00000340487.4	37	c.210	CCDS4644.1	6																																																																																			ZSCAN16	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196812		0.542	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	HGNC	protein_coding	OTTHUMT00000040177.1	23	0.00	0	G	NM_025231		28093431	28093431	+1	no_errors	ENST00000340487	ensembl	human	known	69_37n	silent	39	15.22	7	SNP	1.000	C
ZSCAN16	80345	genome.wustl.edu	37	6	28093431	28093431	+	Silent	SNP	G	G	C			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:28093431G>C	ENST00000340487.4	+	2	359	c.210G>C	c.(208-210)ctG>ctC	p.L70L	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	70	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						GTCAGTGGCTGAGGCCAGAAT	0.542																																						dbGAP											0													150.0	146.0	147.0					6																	28093431		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.210G>C	6.37:g.28093431G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H6K2	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.L70	ENST00000340487.4	37	c.210	CCDS4644.1	6																																																																																			ZSCAN16	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000196812		0.542	ZSCAN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN16	HGNC	protein_coding	OTTHUMT00000040177.1	29	0.00	0	G	NM_025231		28093431	28093431	+1	no_errors	ENST00000340487	ensembl	human	known	69_37n	silent	39	15.22	7	SNP	1.000	C
ZSWIM3	140831	genome.wustl.edu	37	20	44506608	44506608	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr20:44506608G>A	ENST00000255152.2	+	2	1620	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.E465K	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	471							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCCTGCAGAAGAGACCAAGCC	0.567																																						dbGAP											0													45.0	41.0	42.0					20																	44506608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1411G>A	20.37:g.44506608G>A	ENSP00000255152:p.Glu471Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR13	Missense_Mutation	SNP	pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM	p.E471K	ENST00000255152.2	37	c.1411	CCDS13381.1	20	.	.	.	.	.	.	.	.	.	.	G	4.614	0.114083	0.08831	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.23950	1.91;1.88	5.53	2.44	0.29823	.	0.667251	0.15092	N	0.281002	T	0.13072	0.0317	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.001	T	0.32955	-0.9887	10	0.08837	T	0.75	-16.1926	4.7598	0.13102	0.2616:0.1646:0.5737:0.0	.	465;471	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	K	471;465	ENSP00000255152:E471K;ENSP00000406313:E465K	ENSP00000255152:E471K	E	+	1	0	ZSWIM3	43940015	0.002000	0.14202	0.011000	0.14972	0.307000	0.27823	1.085000	0.30840	0.867000	0.35654	0.655000	0.94253	GAG	ZSWIM3	-	NULL	ENSG00000132801		0.567	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM3	HGNC	protein_coding	OTTHUMT00000079540.1	40	0.00	0	G	NM_080752		44506608	44506608	+1	no_errors	ENST00000255152	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.001	A
ZUFSP	221302	genome.wustl.edu	37	6	116977990	116977990	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr6:116977990C>G	ENST00000368576.3	-	5	1061	c.818G>C	c.(817-819)gGa>gCa	p.G273A	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	273							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTTGTATCCTCCAGAATTATC	0.308																																						dbGAP											0													107.0	96.0	100.0					6																	116977990		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.818G>C	6.37:g.116977990C>G	ENSP00000357565:p.Gly273Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G273A	ENST00000368576.3	37	c.818	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815966	0.90790	.	.	ENSG00000153975	ENST00000368576	T	0.54279	0.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71807	-0.4481	10	0.62326	D	0.03	-11.2194	19.5026	0.95103	0.0:1.0:0.0:0.0	.	273	Q96AP4	ZUFSP_HUMAN	A	273	ENSP00000357565:G273A	ENSP00000357565:G273A	G	-	2	0	ZUFSP	117084683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.069000	0.76755	2.587000	0.87381	0.655000	0.94253	GGA	ZUFSP	-	NULL	ENSG00000153975		0.308	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	118	0.00	0	C	NM_145062		116977990	116977990	-1	no_errors	ENST00000368576	ensembl	human	known	69_37n	missense	43	44.87	35	SNP	1.000	G
ZUFSP	221302	genome.wustl.edu	37	6	116977990	116977990	+	Missense_Mutation	SNP	C	C	G			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr6:116977990C>G	ENST00000368576.3	-	5	1061	c.818G>C	c.(817-819)gGa>gCa	p.G273A	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Intron	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	273							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTTGTATCCTCCAGAATTATC	0.308																																						dbGAP											0													107.0	96.0	100.0					6																	116977990		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.818G>C	6.37:g.116977990C>G	ENSP00000357565:p.Gly273Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G273A	ENST00000368576.3	37	c.818	CCDS5110.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815966	0.90790	.	.	ENSG00000153975	ENST00000368576	T	0.54279	0.58	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.69700	0.3140	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71807	-0.4481	10	0.62326	D	0.03	-11.2194	19.5026	0.95103	0.0:1.0:0.0:0.0	.	273	Q96AP4	ZUFSP_HUMAN	A	273	ENSP00000357565:G273A	ENSP00000357565:G273A	G	-	2	0	ZUFSP	117084683	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.069000	0.76755	2.587000	0.87381	0.655000	0.94253	GGA	ZUFSP	-	NULL	ENSG00000153975		0.308	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZUFSP	HGNC	protein_coding	OTTHUMT00000041961.1	133	0.00	0	C	NM_145062		116977990	116977990	-1	no_errors	ENST00000368576	ensembl	human	known	69_37n	missense	43	44.87	35	SNP	1.000	G
ZZZ3	26009	genome.wustl.edu	37	1	78097974	78097974	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-11A-13D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	e8d079cc-6ba2-48d8-847b-a18866c4f15e	g.chr1:78097974G>A	ENST00000370801.3	-	5	1541	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	356					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCTAGAACAGGAGATGGTTCA	0.463																																						dbGAP											0													171.0	157.0	162.0					1																	78097974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1066C>T	1.37:g.78097974G>A	ENSP00000359837:p.Pro356Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P356S	ENST00000370801.3	37	c.1066	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.111792	0.00032	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	3.05	0.35203	.	0.440541	0.27096	N	0.020955	T	0.06005	0.0156	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23691	-1.0181	8	.	.	.	.	8.0452	0.30545	0.7935:0.1355:0.071:0.0	.	356;356;356	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	356	.	.	P	-	1	0	ZZZ3	77870562	0.997000	0.39634	0.667000	0.29798	0.059000	0.15707	2.618000	0.46393	0.426000	0.26116	-1.258000	0.01471	CCT	ZZZ3	-	NULL	ENSG00000036549		0.463	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	74	0.00	0	G	NM_015534		78097974	78097974	-1	no_errors	ENST00000370801	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.983	A
ZZZ3	26009	genome.wustl.edu	37	1	78097974	78097974	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A5XS-01A-11D-A29N-09	TCGA-AC-A5XS-10A-01D-A29N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	bc7a5f17-00b0-4724-965b-4e2c7d571676	5feed130-1b8e-483b-9187-3e9c6de3d51d	g.chr1:78097974G>A	ENST00000370801.3	-	5	1541	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	ZZZ3_ENST00000370798.1_Intron|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	356					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TCTAGAACAGGAGATGGTTCA	0.463																																						dbGAP											0													171.0	157.0	162.0					1																	78097974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1066C>T	1.37:g.78097974G>A	ENSP00000359837:p.Pro356Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.P356S	ENST00000370801.3	37	c.1066	CCDS677.1	1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.111792	0.00032	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.4	3.05	0.35203	.	0.440541	0.27096	N	0.020955	T	0.06005	0.0156	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23691	-1.0181	8	.	.	.	.	8.0452	0.30545	0.7935:0.1355:0.071:0.0	.	356;356;356	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	S	356	.	.	P	-	1	0	ZZZ3	77870562	0.997000	0.39634	0.667000	0.29798	0.059000	0.15707	2.618000	0.46393	0.426000	0.26116	-1.258000	0.01471	CCT	ZZZ3	-	NULL	ENSG00000036549		0.463	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	56	0.00	0	G	NM_015534		78097974	78097974	-1	no_errors	ENST00000370801	ensembl	human	known	69_37n	missense	37	19.57	9	SNP	0.983	A
