#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ALDH5A1	7915	genome.wustl.edu	37	6	24528350	24528350	+	Silent	SNP	G	G	C			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr6:24528350G>C	ENST00000357578.3	+	8	1444	c.1299G>C	c.(1297-1299)ctG>ctC	p.L433L	ALDH5A1_ENST00000546278.1_Silent_p.L345L|ALDH5A1_ENST00000491546.1_Silent_p.L405L|ALDH5A1_ENST00000348925.2_Silent_p.L446L	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	433					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	AGGACATGCTGTGCACTCATG	0.488																																						dbGAP											0													90.0	85.0	87.0					6																	24528350		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.1299G>C	6.37:g.24528350G>C			B2RD26|G5E949|Q546H9|Q8N3W6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.L446	ENST00000357578.3	37	c.1338	CCDS4555.1	6																																																																																			ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	ENSG00000112294		0.488	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2	48	0.00	0	G			24528350	24528350	+1	no_errors	ENST00000348925	ensembl	human	known	69_37n	silent	26	29.73	11	SNP	0.497	C
ATP2A2	488	genome.wustl.edu	37	12	110780236	110780236	+	Silent	SNP	C	C	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr12:110780236C>T	ENST00000539276.2	+	15	2410	c.2301C>T	c.(2299-2301)aaC>aaT	p.N767N	ATP2A2_ENST00000395494.2_Silent_p.N740N|ATP2A2_ENST00000308664.6_Silent_p.N767N			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	767			N -> S (in DD; haemorrhagic lesions and neuropsychiatric phenotype).		blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TCTCGTCCAACGTCGGGGAAG	0.522																																						dbGAP											0													103.0	86.0	92.0					12																	110780236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.2301C>T	12.37:g.110780236C>T			A6NDN7|B4DF05|P16614|Q86VJ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	p.R658C	ENST00000539276.2	37	c.1972	CCDS9144.1	12	.	.	.	.	.	.	.	.	.	.	C	4.367	0.067650	0.08436	.	.	ENSG00000174437	ENST00000548169	.	.	.	5.54	-6.99	0.01605	.	.	.	.	.	T	0.66015	0.2747	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69665	-0.5084	4	.	.	.	.	18.3658	0.90390	0.0:0.1218:0.0:0.8782	.	.	.	.	C	658	.	.	R	+	1	0	ATP2A2	109264619	0.006000	0.16342	0.069000	0.20011	0.578000	0.36192	-1.020000	0.03618	-1.360000	0.02172	-1.165000	0.01757	CGT	ATP2A2	-	tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr	ENSG00000174437		0.522	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	ATP2A2	HGNC	protein_coding	OTTHUMT00000403539.1	76	0.00	0	C	NM_001681		110780236	110780236	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000548169	ensembl	human	novel	69_37n	missense	94	41.98	68	SNP	0.974	T
CLEC16A	23274	genome.wustl.edu	37	16	11071088	11071088	+	Silent	SNP	G	G	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr16:11071088G>T	ENST00000409790.1	+	8	965	c.735G>T	c.(733-735)cgG>cgT	p.R245R	CLEC16A_ENST00000409552.3_Silent_p.R243R	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCAGGCATCGGAATCGGGGTA	0.517																																						dbGAP											0													128.0	127.0	127.0					16																	11071088		2039	4186	6225	-	-	-	SO:0001819	synonymous_variant	0			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.735G>T	16.37:g.11071088G>T				Silent	SNP	pfam_Uncharacterised_FPL	p.R245	ENST00000409790.1	37	c.735	CCDS45409.1	16																																																																																			CLEC16A	-	NULL	ENSG00000038532		0.517	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	70	0.00	0	G	NM_015226		11071088	11071088	+1	no_errors	ENST00000409790	ensembl	human	known	69_37n	silent	64	45.30	53	SNP	0.998	T
DPT	1805	genome.wustl.edu	37	1	168683522	168683522	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr1:168683522A>T	ENST00000367817.3	-	2	457	c.368T>A	c.(367-369)gTg>gAg	p.V123E		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	123	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CCGATCCAGCACTGACTCGAA	0.547																																						dbGAP											0													89.0	79.0	82.0					1																	168683522		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.368T>A	1.37:g.168683522A>T	ENSP00000356791:p.Val123Glu		A8K981|Q8N4R2|Q9UIX8	Missense_Mutation	SNP	NULL	p.V123E	ENST00000367817.3	37	c.368	CCDS1275.1	1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684539	0.88639	.	.	ENSG00000143196	ENST00000367817	T	0.42131	0.98	5.81	5.81	0.92471	.	0.126350	0.53938	D	0.000053	T	0.43366	0.1244	L	0.59436	1.845	0.54753	D	0.999980	D	0.76494	0.999	D	0.80764	0.994	T	0.47787	-0.9090	9	0.06236	T	0.91	-5.5105	15.1438	0.72633	1.0:0.0:0.0:0.0	.	123	Q07507	DERM_HUMAN	E	123	ENSP00000356791:V123E	ENSP00000356791:V123E	V	-	2	0	DPT	166950146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.541000	0.73865	2.216000	0.71823	0.533000	0.62120	GTG	DPT	-	NULL	ENSG00000143196		0.547	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPT	HGNC	protein_coding	OTTHUMT00000083618.1	54	0.00	0	A	NM_001937		168683522	168683522	-1	no_errors	ENST00000367817	ensembl	human	known	69_37n	missense	58	16.90	12	SNP	1.000	T
EHD1	10938	genome.wustl.edu	37	11	64645813	64645813	+	Missense_Mutation	SNP	A	A	C			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr11:64645813A>C	ENST00000320631.3	-	1	378	c.124T>G	c.(124-126)Ttc>Gtc	p.F42V	EHD1_ENST00000359393.2_Missense_Mutation_p.F42V	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	42					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						AACTCGTGGAAGCGGTAGTGC	0.642																																						dbGAP											0													119.0	95.0	103.0					11																	64645813		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.124T>G	11.37:g.64645813A>C	ENSP00000320516:p.Phe42Val		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.F42V	ENST00000320631.3	37	c.124	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	A	24.7	4.555311	0.86231	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421303;ENST00000433803;ENST00000457202;ENST00000411683	T;T;T;T;T	0.58506	1.58;1.58;0.8;0.33;0.33	4.15	2.97	0.34412	.	0.060299	0.64402	N	0.000003	T	0.77778	0.4181	M	0.93720	3.45	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	D;D	0.64687	0.928;0.928	T	0.79938	-0.1592	10	0.87932	D	0	-41.7008	9.2195	0.37368	0.8166:0.1833:0.0:0.0	.	42;42	B2R5U3;Q9H4M9	.;EHD1_HUMAN	V	42;42;18;56;56;42;42	ENSP00000320516:F42V;ENSP00000352354:F42V;ENSP00000404944:F56V;ENSP00000399022:F42V;ENSP00000403830:F42V	ENSP00000320516:F42V	F	-	1	0	EHD1	64402389	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.076000	0.94009	0.674000	0.31244	0.459000	0.35465	TTC	EHD1	-	NULL	ENSG00000110047		0.642	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	26	0.00	0	A	NM_006795		64645813	64645813	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	missense	92	16.22	18	SNP	1.000	C
ELFN2	114794	genome.wustl.edu	37	22	37770887	37770887	+	Missense_Mutation	SNP	G	G	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr22:37770887G>A	ENST00000402918.2	-	3	1473	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	RP1-63G5.8_ENST00000609322.1_RNA|RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000435824.1_5'Flank	NM_052906.3	NP_443138.2	Q5R3F8	PPR29_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	230	LRRCT.				negative regulation of phosphatase activity (GO:0010923)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGTAGGGCCGGGGCACCAGC	0.672																																						dbGAP											0													27.0	37.0	34.0					22																	37770887		2203	4298	6501	-	-	-	SO:0001583	missense	0			BC041596	CCDS33642.1	22q13.1	2013-02-11	2011-10-27	2011-10-27	ENSG00000166897	ENSG00000166897		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	29396	protein-coding gene	gene with protein product			"""leucine rich repeat containing 62"", ""extracellular leucine-rich repeat and fibronectin type III containing 2"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 2"", ""protein phosphatase 1, regulatory subunit 29"""	LRRC62, PPP1R29		17868438	Standard	XR_244427		Approved	dJ63G5.3, KIAA1904	uc003asq.4	Q5R3F8	OTTHUMG00000150558	ENST00000402918.2:c.688C>T	22.37:g.37770887G>A	ENSP00000385277:p.Arg230Trp		Q96PY3	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor	p.R230W	ENST00000402918.2	37	c.688	CCDS33642.1	22	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905402	0.52333	.	.	ENSG00000166897	ENST00000349653;ENST00000402918	T;T	0.53640	0.61;0.61	4.96	-0.0941	0.13646	.	0.205363	0.40222	N	0.001154	T	0.54759	0.1878	L	0.47716	1.5	0.39251	D	0.964043	D	0.76494	0.999	P	0.59546	0.859	T	0.62455	-0.6851	10	0.66056	D	0.02	-23.5293	14.8073	0.69968	0.0:0.0:0.3812:0.6187	.	230	Q5R3F8	PPR29_HUMAN	W	230	ENSP00000300147:R230W;ENSP00000385277:R230W	ENSP00000300147:R230W	R	-	1	2	ELFN2	36100833	0.010000	0.17322	0.977000	0.42913	0.973000	0.67179	0.334000	0.19787	0.201000	0.20466	-0.227000	0.12334	CGG	ELFN2	-	NULL	ENSG00000166897		0.672	ELFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELFN2	HGNC	protein_coding	OTTHUMT00000318900.2	27	0.00	0	G	NM_052906		37770887	37770887	-1	no_errors	ENST00000349653	ensembl	human	known	69_37n	missense	22	26.67	8	SNP	0.296	A
EPG5	57724	genome.wustl.edu	37	18	43484051	43484051	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr18:43484051C>T	ENST00000282041.5	-	25	4395	c.4361G>A	c.(4360-4362)cGc>cAc	p.R1454H	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1454					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)			p.R1454H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATGATAGATGCGCTCCATGTT	0.443																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											146.0	140.0	142.0					18																	43484051		1982	4168	6150	-	-	-	SO:0001583	missense	0			AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4361G>A	18.37:g.43484051C>T	ENSP00000282041:p.Arg1454His		A2BDF3|Q9H8C8	Missense_Mutation	SNP	NULL	p.R1454H	ENST00000282041.5	37	c.4361	CCDS11926.2	18	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673560	0.88445	.	.	ENSG00000152223	ENST00000282041;ENST00000308403	T	0.11063	2.81	6.04	6.04	0.98038	.	.	.	.	.	T	0.29976	0.0750	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	T	0.00074	-1.2124	9	0.62326	D	0.03	-10.9235	16.2018	0.82087	0.1408:0.8592:0.0:0.0	.	1454	Q9HCE0	EPG5_HUMAN	H	1454;329	ENSP00000282041:R1454H	ENSP00000282041:R1454H	R	-	2	0	EPG5	41738049	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.041000	0.64196	2.873000	0.98535	0.563000	0.77884	CGC	EPG5	-	NULL	ENSG00000152223		0.443	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPG5	HGNC	protein_coding	OTTHUMT00000445081.1	80	0.00	0	C	NM_020964		43484051	43484051	-1	no_errors	ENST00000282041	ensembl	human	known	69_37n	missense	48	26.15	17	SNP	1.000	T
MAP3K1	4214	genome.wustl.edu	37	5	56177010	56177011	+	Frame_Shift_Ins	INS	-	-	ATAG			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr5:56177010_56177011insATAG	ENST00000399503.3	+	13	2280_2281	c.2280_2281insATAG	c.(2281-2283)atafs	p.-762fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|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)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCTTTGTCTTATAGATAGACT	0.361																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2285_2288dupATAG	5.37:g.56177015_56177018dupATAG	ENSP00000382423:p.Asp762fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L763fs	ENST00000399503.3	37	c.2280_2281	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.361	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	203	0.00	0	-	XM_042066		56177010	56177011	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	63	55.94	80	INS	0.954:0.994	ATAG
FGF18	8817	genome.wustl.edu	37	5	170883561	170883561	+	Missense_Mutation	SNP	G	G	C			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr5:170883561G>C	ENST00000274625.5	+	5	920	c.376G>C	c.(376-378)Gag>Cag	p.E126Q		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	126					anatomical structure morphogenesis (GO:0009653)|angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte development (GO:0002063)|endochondral ossification (GO:0001958)|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)|insulin receptor signaling pathway (GO:0008286)|intramembranous ossification (GO:0001957)|lung development (GO:0030324)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleolus (GO:0005730)	growth factor activity (GO:0008083)|type 1 fibroblast growth factor receptor binding (GO:0005105)|type 2 fibroblast growth factor receptor binding (GO:0005111)			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CACCAGCAAGGAGTGTGTGTT	0.537																																						dbGAP											0													78.0	74.0	75.0					5																	170883561		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007422	CCDS4378.1	5q34	2008-02-05			ENSG00000156427	ENSG00000156427			3674	protein-coding gene	gene with protein product		603726				9660775, 9742123	Standard	NM_003862		Approved	FGF-18, ZFGF5	uc003mbk.3	O76093	OTTHUMG00000130464	ENST00000274625.5:c.376G>C	5.37:g.170883561G>C	ENSP00000274625:p.Glu126Gln		D3DQL7|Q6UWF1	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	p.E126Q	ENST00000274625.5	37	c.376	CCDS4378.1	5	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454154	0.84209	.	.	ENSG00000156427	ENST00000274625	D	0.89681	-2.55	5.27	5.27	0.74061	.	0.106927	0.64402	D	0.000005	D	0.94159	0.8126	M	0.86502	2.82	0.58432	D	0.999998	P	0.51653	0.947	P	0.56216	0.794	D	0.94793	0.7964	10	0.62326	D	0.03	-4.6694	18.4784	0.90802	0.0:0.0:1.0:0.0	.	126	O76093	FGF18_HUMAN	Q	126	ENSP00000274625:E126Q	ENSP00000274625:E126Q	E	+	1	0	FGF18	170816166	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.468000	0.83385	0.655000	0.94253	GAG	FGF18	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF	ENSG00000156427		0.537	FGF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF18	HGNC	protein_coding	OTTHUMT00000252857.2	13	0.00	0	G	NM_033649, NM_003862		170883561	170883561	+1	no_errors	ENST00000274625	ensembl	human	known	69_37n	missense	36	16.28	7	SNP	1.000	C
MYCBPAP	84073	genome.wustl.edu	37	17	48594830	48594830	+	Intron	SNP	C	C	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr17:48594830C>A	ENST00000323776.5	+	3	655				MYCBPAP_ENST00000436259.2_Intron	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCAGTCTCAGCCCTGGCTTCA	0.527																																						dbGAP											0													94.0	95.0	94.0					17																	48594830		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.493+17C>A	17.37:g.48594830C>A				Missense_Mutation	SNP	NULL	p.S170R	ENST00000323776.5	37	c.510	CCDS32680.2	17	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252341	0.22880	.	.	ENSG00000136449	ENST00000452039	.	.	.	4.75	1.36	0.22044	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25882	-1.0119	4	.	.	.	.	8.6001	0.33740	0.2752:0.4525:0.2722:0.0	.	.	.	.	R	170	.	.	S	+	3	2	MYCBPAP	45949829	0.000000	0.05858	0.001000	0.08648	0.305000	0.27757	0.082000	0.14847	0.212000	0.20703	0.563000	0.77884	AGC	MYCBPAP	-	NULL	ENSG00000136449		0.527	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYCBPAP	HGNC	protein_coding	OTTHUMT00000347814.1	63	0.00	0	C	NM_032133		48594830	48594830	+1	no_stop_codon	ENST00000452039	ensembl	human	novel	69_37n	missense	46	43.90	36	SNP	0.000	A
NAV1	89796	genome.wustl.edu	37	1	201757631	201757631	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr1:201757631C>T	ENST00000367296.4	+	10	3451	c.3031C>T	c.(3031-3033)Cgc>Tgc	p.R1011C	NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.R1011C|NAV1_ENST00000367300.3_Intron|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000367295.1_Missense_Mutation_p.R620C|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.R1011C	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1011					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAGAATCACCCGCTCCAACAG	0.632																																						dbGAP											0													113.0	111.0	111.0					1																	201757631		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3031C>T	1.37:g.201757631C>T	ENSP00000356265:p.Arg1011Cys		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.R1011C	ENST00000367296.4	37	c.3031	CCDS1414.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.240568|5.240568	0.95240|0.95240	.|.	.|.	ENSG00000134369|ENSG00000134369	ENST00000430015|ENST00000367296;ENST00000295624;ENST00000367297;ENST00000391966;ENST00000367295	.|T;T;T;T	.|0.28255	.|2.35;2.35;1.62;2.34	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59622|0.59622	0.2207|0.2207	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;0.999;1.0;0.995;0.998	T|T	0.63857|0.63857	-0.6542|-0.6542	5|10	.|0.87932	.|D	.|0	-23.9816|-23.9816	18.7921|18.7921	0.91978|0.91978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1011;620;1011;519;1011	.|Q8NEY1-6;Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.|.;.;NAV1_HUMAN;.;.	L|C	568|1011;1011;1011;519;620	.|ENSP00000356265:R1011C;ENSP00000295624:R1011C;ENSP00000356266:R1011C;ENSP00000356264:R620C	.|ENSP00000295624:R1011C	P|R	+|+	2|1	0|0	NAV1|NAV1	200024254|200024254	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.880000|5.880000	0.69698|0.69698	2.526000|2.526000	0.85167|0.85167	0.561000|0.561000	0.74099|0.74099	CCG|CGC	NAV1	-	NULL	ENSG00000134369		0.632	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	47	0.00	0	C	NM_020443		201757631	201757631	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	98	19.67	24	SNP	1.000	T
NIPAL4	348938	genome.wustl.edu	37	5	156899736	156899736	+	Missense_Mutation	SNP	C	C	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr5:156899736C>T	ENST00000311946.7	+	6	1285	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I	NIPAL4_ENST00000435489.2_Missense_Mutation_p.T371I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	390						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						ATTGCAGGCACCCTCTCGGGC	0.532																																						dbGAP											0													91.0	88.0	89.0					5																	156899736		2125	4246	6371	-	-	-	SO:0001583	missense	0			AK026158	CCDS47328.1, CCDS54944.1	5q33.3	2009-03-24	2009-03-24		ENSG00000172548	ENSG00000172548			28018	protein-coding gene	gene with protein product	"""ichthyin"""	609383	"""NIPA-like 4"""			8619474, 9110174, 15317751	Standard	NM_001099287		Approved	ICHYN	uc003lwx.4	Q0D2K0	OTTHUMG00000163497	ENST00000311946.7:c.1169C>T	5.37:g.156899736C>T	ENSP00000311687:p.Thr390Ile		A8S6F1|A8S6F5|A8S6F8|B4DLF3|Q0D2J8|Q0D2J9	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.T390I	ENST00000311946.7	37	c.1169	CCDS47328.1	5	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188899	0.78789	.	.	ENSG00000172548	ENST00000435489;ENST00000311946	D;D	0.90504	-2.68;-2.68	5.93	5.93	0.95920	.	0.133330	0.64402	D	0.000002	D	0.94308	0.8171	L	0.56199	1.76	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70016	0.967;0.964	D	0.93659	0.6980	10	0.54805	T	0.06	-16.2175	20.3437	0.98782	0.0:1.0:0.0:0.0	.	371;390	Q0D2K0-2;Q0D2K0	.;NIPA4_HUMAN	I	371;390	ENSP00000406456:T371I;ENSP00000311687:T390I	ENSP00000311687:T390I	T	+	2	0	NIPAL4	156832314	1.000000	0.71417	1.000000	0.80357	0.521000	0.34408	7.426000	0.80270	2.815000	0.96918	0.561000	0.74099	ACC	NIPAL4	-	pfam_Mg_trans_NIPA	ENSG00000172548		0.532	NIPAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL4	HGNC	protein_coding	OTTHUMT00000373789.1	56	0.00	0	C	NM_001099287		156899736	156899736	+1	no_errors	ENST00000311946	ensembl	human	known	69_37n	missense	74	26.73	27	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952075	178952075	+	Missense_Mutation	SNP	A	A	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr3:178952075A>T	ENST00000263967.3	+	21	3287	c.3130A>T	c.(3130-3132)Aat>Tat	p.N1044Y	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1044	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				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.N1044D(3)|p.N1044Y(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)	GAAACAAATGAATGATGCACA	0.373		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"""	4	Substitution - Missense(4)	large_intestine(1)|central_nervous_system(1)|breast(1)|endometrium(1)											98.0	88.0	91.0					3																	178952075		1910	4122	6032	-	-	-	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.3130A>T	3.37:g.178952075A>T	ENSP00000263967:p.Asn1044Tyr		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.N1044Y	ENST00000263967.3	37	c.3130	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	17.20	3.329635	0.60743	.	.	ENSG00000121879	ENST00000263967	D	0.81908	-1.55	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	L	0.48174	1.505	0.80722	D	1	D	0.53462	0.96	P	0.46320	0.512	T	0.83031	-0.0162	10	0.48119	T	0.1	-24.648	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1044	P42336	PK3CA_HUMAN	Y	1044	ENSP00000263967:N1044Y	ENSP00000263967:N1044Y	N	+	1	0	PIK3CA	180434769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	AAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	63	0.00	0	A			178952075	178952075	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	1.000	T
POLA1	5422	genome.wustl.edu	37	X	24722586	24722586	+	Splice_Site	SNP	G	G	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chrX:24722586G>T	ENST00000379059.3	+	4	343	c.328G>T	c.(328-330)Gga>Tga	p.G110*	POLA1_ENST00000379068.3_Splice_Site_p.G116*	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	110	Asp-rich.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGATGAGAAAGGTACCTACCT	0.378																																						dbGAP											0													314.0	258.0	277.0					X																	24722586		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.328+1G>T	X.37:g.24722586G>T			Q86UQ7	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.G116*	ENST00000379059.3	37	c.346	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	35	5.496581	0.96355	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	4.96	4.96	0.65561	.	0.382752	0.29752	N	0.011295	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-2.1657	11.4684	0.50252	0.0894:0.0:0.9106:0.0	.	.	.	.	X	116;110	.	ENSP00000368349:G110X	G	+	1	0	POLA1	24632507	1.000000	0.71417	0.970000	0.41538	0.749000	0.42624	3.967000	0.56802	2.294000	0.77228	0.600000	0.82982	GGA	POLA1	-	tigrfam_DNA-dir_DNA_pol_B_pol2	ENSG00000101868		0.378	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	229	0.00	0	G	NM_016937	Nonsense_Mutation	24722586	24722586	+1	no_errors	ENST00000379068	ensembl	human	known	69_37n	nonsense	248	21.27	67	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	33954810	33954810	+	Silent	SNP	G	G	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr15:33954810G>A	ENST00000389232.4	+	35	5149	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	RYR3_ENST00000415757.3_Silent_p.T1693T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1693	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCTCAGGACGAAGGCTCTGA	0.582																																						dbGAP											0													74.0	78.0	76.0					15																	33954810		2036	4202	6238	-	-	-	SO:0001819	synonymous_variant	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5079G>A	15.37:g.33954810G>A			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.T1693	ENST00000389232.4	37	c.5079	CCDS45210.1	15																																																																																			RYR3	-	NULL	ENSG00000198838		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	78	0.00	0	G			33954810	33954810	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	silent	52	45.26	43	SNP	0.223	A
SF1	7536	genome.wustl.edu	37	11	64535092	64535092	+	Silent	SNP	C	C	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr11:64535092C>T	ENST00000377390.3	-	10	1630	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	SF1_ENST00000334944.5_Silent_p.P431P|SF1_ENST00000377387.1_Silent_p.P556P|SF1_ENST00000422298.2_Silent_p.P316P|SF1_ENST00000377394.3_Silent_p.P431P|SF1_ENST00000433274.2_Silent_p.P405P|SF1_ENST00000227503.9_Silent_p.P431P|SF1_ENST00000489544.1_5'Flank	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	431	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCTGGTTCATCGGTGGTGGTG	0.612											OREG0021062	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													62.0	70.0	67.0					11																	64535092		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1293G>A	11.37:g.64535092C>T		1077	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Silent	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.P431	ENST00000377390.3	37	c.1293	CCDS31599.1	11																																																																																			SF1	-	NULL	ENSG00000168066		0.612	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	29	0.00	0	C	NM_004630		64535092	64535092	-1	no_errors	ENST00000377390	ensembl	human	known	69_37n	silent	65	12.16	9	SNP	1.000	T
SOS1	6654	genome.wustl.edu	37	2	39239446	39239446	+	Silent	SNP	G	G	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr2:39239446G>A	ENST00000426016.1	-	15	2297	c.2211C>T	c.(2209-2211)atC>atT	p.I737I	SOS1_ENST00000395038.2_Silent_p.I737I|SOS1_ENST00000402219.2_Silent_p.I737I			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	737	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTTCCTTTGGATTATTTTAG	0.303									Noonan syndrome																													dbGAP											0													154.0	144.0	148.0					2																	39239446		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.2211C>T	2.37:g.39239446G>A			A8K2G3|B4DXG2	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.I737	ENST00000426016.1	37	c.2211	CCDS1802.1	2																																																																																			SOS1	-	superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000115904		0.303	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SOS1	HGNC	protein_coding	OTTHUMT00000219948.3	158	0.00	0	G	NM_005633		39239446	39239446	-1	no_errors	ENST00000402219	ensembl	human	known	69_37n	silent	173	16.43	34	SNP	1.000	A
SNRNP200	23020	genome.wustl.edu	37	2	96959238	96959238	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr2:96959238G>T	ENST00000323853.5	-	15	1929	c.1852C>A	c.(1852-1854)Cat>Aat	p.H618N	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	618	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						TGGAGAAGATGAATCTCATCC	0.453																																						dbGAP											0													114.0	114.0	114.0					2																	96959238		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.1852C>A	2.37:g.96959238G>T	ENSP00000317123:p.His618Asn		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.H618N	ENST00000323853.5	37	c.1852	CCDS2020.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961137	0.92791	.	.	ENSG00000144028	ENST00000323853;ENST00000540328	T	0.65549	-0.16	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	D	0.89068	0.6610	H	0.99225	4.475	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92725	0.6195	10	0.87932	D	0	-17.5083	19.6509	0.95805	0.0:0.0:1.0:0.0	.	618	O75643	U520_HUMAN	N	618;293	ENSP00000317123:H618N	ENSP00000317123:H618N	H	-	1	0	SNRNP200	96322965	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	9.229000	0.95273	2.941000	0.99782	0.655000	0.94253	CAT	SNRNP200	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000144028		0.453	SNRNP200-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP200	HGNC	protein_coding	OTTHUMT00000252846.2	44	0.00	0	G	NM_014014		96959238	96959238	-1	no_errors	ENST00000323853	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	1.000	T
TREM1	54210	genome.wustl.edu	37	6	41250151	41250151	+	Missense_Mutation	SNP	G	G	T			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr6:41250151G>T	ENST00000244709.4	-	2	451	c.388C>A	c.(388-390)Cgc>Agc	p.R130S	TREM1_ENST00000589614.1_Missense_Mutation_p.R130S|TREM1_ENST00000591620.1_Missense_Mutation_p.R130S|TREM1_ENST00000334475.6_Missense_Mutation_p.R130S	NM_018643.3	NP_061113.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	130	Ig-like V-type.				blood coagulation (GO:0007596)|chemokine metabolic process (GO:0050755)|cytokine secretion involved in immune response (GO:0002374)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|neutrophil mediated killing of gram-negative bacterium (GO:0070945)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACCACCAAGCGGATGCGATCG	0.577																																						dbGAP											0													64.0	52.0	56.0					6																	41250151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF196329	CCDS4854.1, CCDS56427.1, CCDS59499.1	6p21.1	2013-01-11			ENSG00000124731	ENSG00000124731		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17760	protein-coding gene	gene with protein product		605085				11922939, 10799849	Standard	NM_018643		Approved	TREM-1, CD354	uc003oqf.2	Q9NP99	OTTHUMG00000014674	ENST00000244709.4:c.388C>A	6.37:g.41250151G>T	ENSP00000244709:p.Arg130Ser		B4DWG2|K7EJW1|Q53FL8|Q5T2C9|Q86YU1	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub	p.R130S	ENST00000244709.4	37	c.388	CCDS4854.1	6	.	.	.	.	.	.	.	.	.	.	G	9.358	1.067240	0.20067	.	.	ENSG00000124731	ENST00000244709;ENST00000334475	T;T	0.16897	2.89;2.31	4.37	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.497943	0.17215	N	0.182566	T	0.12050	0.0293	M	0.62723	1.935	0.09310	N	1	D;D	0.67145	0.991;0.996	P;P	0.60789	0.737;0.879	T	0.08597	-1.0714	10	0.20046	T	0.44	-5.3825	3.5472	0.07832	0.2101:0.0:0.5929:0.197	.	130;130	Q9NP99-2;Q9NP99	.;TREM1_HUMAN	S	130	ENSP00000244709:R130S;ENSP00000334284:R130S	ENSP00000244709:R130S	R	-	1	0	TREM1	41358129	0.045000	0.20229	0.168000	0.22838	0.001000	0.01503	0.324000	0.19610	0.615000	0.30124	-0.189000	0.12847	CGC	TREM1	-	smart_Ig_sub	ENSG00000124731		0.577	TREM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREM1	HGNC	protein_coding	OTTHUMT00000040505.2	40	0.00	0	G	NM_018643		41250151	41250151	-1	no_errors	ENST00000244709	ensembl	human	known	69_37n	missense	42	26.32	15	SNP	0.058	T
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A			B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	16	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	55	21.43	15	SNP	0.994	A
UHRF1BP1L	23074	genome.wustl.edu	37	12	100452034	100452034	+	Silent	SNP	T	T	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr12:100452034T>A	ENST00000279907.7	-	14	3233	c.3021A>T	c.(3019-3021)tcA>tcT	p.S1007S	UHRF1BP1L_ENST00000545232.2_Silent_p.S657S	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1007										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AGATACTACTTGAATCTGTAT	0.303																																						dbGAP											0													61.0	67.0	65.0					12																	100452034		2199	4292	6491	-	-	-	SO:0001819	synonymous_variant	0				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3021A>T	12.37:g.100452034T>A			A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	NULL	p.S1007	ENST00000279907.7	37	c.3021	CCDS31882.1	12																																																																																			UHRF1BP1L	-	NULL	ENSG00000111647		0.303	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	55	0.00	0	T	NM_001006947		100452034	100452034	-1	no_errors	ENST00000279907	ensembl	human	known	69_37n	silent	53	18.46	12	SNP	0.297	A
UNC80	285175	genome.wustl.edu	37	2	210681761	210681761	+	Silent	SNP	G	G	A			TCGA-EW-A1J1-01A-11D-A188-09	TCGA-EW-A1J1-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4b8d51b3-8393-45d4-a73d-3c22c561d6f3	5f2693b0-9790-4841-91e4-aecc5cdccfec	g.chr2:210681761G>A	ENST00000439458.1	+	10	1544	c.1464G>A	c.(1462-1464)acG>acA	p.T488T	UNC80_ENST00000272845.6_Silent_p.T488T	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	488					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						TGTCCCCCACGCGCAGCACAT	0.562																																						dbGAP											0													61.0	56.0	57.0					2																	210681761		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.1464G>A	2.37:g.210681761G>A			B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NULL	p.T488	ENST00000439458.1	37	c.1464	CCDS46504.1	2																																																																																			UNC80	-	NULL	ENSG00000144406		0.562	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding		38	0.00	0	G	NM_182587		210681761	210681761	+1	no_errors	ENST00000439458	ensembl	human	known	69_37n	silent	55	27.27	21	SNP	0.173	A
