#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								14752	SO:0001628	intergenic_variant	4519																															Unknown.37:g.0C>T			14752		Missense_Mutation	SNP	superfamily_Transmembr_di-haem_cytochrome,HMMPfam_Cytochrom_B_N,HMMPfam_Cytochrom_B_C,superfamily_Cytochrome_b/b6_C	p.T2I		37	c.5		MT																																																																																			-	superfamily_Transmembr_di-haem_cytochrome	0	0					MT-CYB			C			14752	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361789	ensembl	human	known	54_36p	missense	SNP	NULL	T
RRM1	6240	genome.wustl.edu	37	11	4144499	4144499	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:4144499C>T	ENST00000300738.5	+	12	1409	c.1205C>T	c.(1204-1206)aCc>aTc	p.T402I	RRM1_ENST00000537197.1_Missense_Mutation_p.T64I|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000534285.1_Missense_Mutation_p.T180I|RRM1_ENST00000423050.2_Missense_Mutation_p.T305I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	GAAACAGGCACCCCGTATATG	0.463																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)											0			11											108.0	107.0	108.0					11																	4144499		2201	4298	6499	4101075	SO:0001583	missense	6240			X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1205C>T	11.37:g.4144499C>T	ENSP00000300738:p.Thr402Ile		4101075	Q9UNN2	Missense_Mutation	SNP	HMMPfam_ATP-cone,superfamily_Ribonucleo_red_N,HMMPfam_Ribonuc_red_lgN,HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998,PatternScan_RIBORED_LARGE	p.T402I	ENST00000300738.5	37	c.1205	CCDS7750.1	11	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544971	0.65198	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.71	4.79	0.61399	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.090008	0.85682	D	0.000000	T	0.65923	0.2738	M	0.88842	2.985	0.80722	D	1	P	0.52316	0.952	P	0.57720	0.826	T	0.73496	-0.3964	10	0.59425	D	0.04	-13.1619	15.117	0.72410	0.1426:0.8574:0.0:0.0	.	402	P23921	RIR1_HUMAN	I	402;305;315;180;180;64	ENSP00000300738:T402I;ENSP00000390539:T305I;ENSP00000431464:T180I;ENSP00000442148:T64I	ENSP00000300738:T402I	T	+	2	0	RRM1	4101075	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	7.487000	0.81328	1.400000	0.46741	0.563000	0.77884	ACC	-	HMMPfam_Ribonuc_red_lgC,superfamily_SSF51998		0.463	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM1	protein_coding	OTTHUMT00000257197.1	C	NM_001033		4101075	+1	no_errors	NM_001033	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SMTNL2	342527	genome.wustl.edu	37	17	4510772	4510772	+	Missense_Mutation	SNP	G	G	A	rs113952457		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:4510772G>A	ENST00000389313.4	+	8	1443	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R315H|RP11-141J13.5_ENST00000573270.1_lincRNA	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	459										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CACCTGCGTCGCTTCGAGTAA	0.627													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17228	0.0		0.0	False		,,,				2504	0.0															0			17						G	HIS/ARG,HIS/ARG	10,4396	16.8+/-37.8	0,10,2193	116.0	114.0	115.0		1376,944	0.9	1.0	17	dbSNP_132	115	0,8600		0,0,4300	yes	missense,missense	SMTNL2	NM_001114974.1,NM_198501.2	29,29	0,10,6493	AA,AG,GG		0.0,0.227,0.0769	benign,benign	459/462,315/318	4510772	10,12996	2203	4300	6503	4457521	SO:0001583	missense	342527			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1376G>A	17.37:g.4510772G>A	ENSP00000373964:p.Arg459His		4457521	Q6ZVK6	Missense_Mutation	SNP	HMMPfam_CH,superfamily_Calponin-homology,HMMSmart_CH	p.R315H	ENST00000389313.4	37	c.944	CCDS45583.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.99	1.506174	0.26949	0.00227	0.0	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.84070	-1.79;-1.8	5.12	0.852	0.18995	Calponin homology domain (2);	.	.	.	.	T	0.68705	0.3030	N	0.16478	0.41	0.29352	N	0.865252	B	0.12630	0.006	B	0.06405	0.002	T	0.58713	-0.7588	9	0.48119	T	0.1	-8.4017	8.8455	0.35168	0.3221:0.0:0.6779:0.0	.	459	Q2TAL5	SMTL2_HUMAN	H	315;459	ENSP00000345143:R315H;ENSP00000373964:R459H	ENSP00000345143:R315H	R	+	2	0	SMTNL2	4457521	0.534000	0.26362	0.993000	0.49108	0.218000	0.24690	0.310000	0.19356	0.026000	0.15269	-0.140000	0.14226	CGC	-	superfamily_Calponin-homology		0.627	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMTNL2	protein_coding	OTTHUMT00000439129.1	G	NM_198501		4457521	+1	no_errors	NM_198501	genbank	human	validated	54_36p	missense	SNP	1.000	A
SLC23A2	9962	genome.wustl.edu	37	20	4854621	4854621	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:4854621C>T	ENST00000379333.1	-	11	1455	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	SLC23A2_ENST00000338244.1_Missense_Mutation_p.V355M|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V241M|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	355					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGAAGCACGCCTTGCCTG	0.557																																																0			20											118.0	104.0	109.0					20																	4854621		2203	4300	6503	4802621	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1063G>A	20.37:g.4854621C>T	ENSP00000368637:p.Val355Met		4802621	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	HMMPfam_Xan_ur_permease,PatternScan_XANTH_URACIL_PERMASE	p.V355M	ENST00000379333.1	37	c.1063	CCDS13085.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.85|14.85	2.659541|2.659541	0.47467|0.47467	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.20598	.|2.08;2.08;2.06	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.055471	.|0.64402	.|D	.|0.000001	T|T	0.41627|0.41627	0.1167|0.1167	L|L	0.52905|0.52905	1.665|1.665	0.54753|0.54753	D|D	0.999989|0.999989	.|D;D;D	.|0.59357	.|0.985;0.985;0.985	.|P;P;P	.|0.61397	.|0.787;0.888;0.888	T|T	0.12192|0.12192	-1.0557|-1.0557	5|10	.|0.87932	.|D	.|0	-18.6378|-18.6378	18.4213|18.4213	0.90591|0.90591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|241;355;355	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	H|M	111|355;355;241	.|ENSP00000368637:V355M;ENSP00000344322:V355M;ENSP00000406601:V241M	.|ENSP00000344322:V355M	R|V	-|-	2|1	0|0	SLC23A2|SLC23A2	4802621|4802621	0.999000|0.999000	0.42202|0.42202	0.587000|0.587000	0.28692|0.28692	0.002000|0.002000	0.02628|0.02628	3.819000|3.819000	0.55686|0.55686	2.698000|2.698000	0.92095|0.92095	0.655000|0.655000	0.94253|0.94253	CGT|GTG	-	HMMPfam_Xan_ur_permease		0.557	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	protein_coding	OTTHUMT00000077832.1	C			4802621	-1	no_errors	NM_005116	genbank	human	reviewed	54_36p	missense	SNP	0.988	T
TP53	7157	genome.wustl.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	17	GRCh37	CM070299	TP53	M							51.0	51.0	51.0					17																	7578413		2203	4300	6503	7519138	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met		7519138	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.V173M	ENST00000269305.4	37	c.517	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7519138	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
USP7	7874	genome.wustl.edu	37	16	8988445	8988445	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:8988445T>C	ENST00000344836.4	-	30	3362	c.3164A>G	c.(3163-3165)gAg>gGg	p.E1055G	USP7_ENST00000381886.4_Missense_Mutation_p.E1039G|USP7_ENST00000535863.1_Missense_Mutation_p.E956G	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1055					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TACTTCATACTCGTCTTCATT	0.423																																																0			16											58.0	64.0	62.0					16																	8988445		2197	4300	6497	8895946	SO:0001583	missense	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3164A>G	16.37:g.8988445T>C	ENSP00000343535:p.Glu1055Gly		8895946	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	superfamily_Traf_like,HMMSmart_MATH,HMMPfam_MATH,superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2	p.E1055G	ENST00000344836.4	37	c.3164	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313402	0.60414	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.08458	3.09;3.1	5.61	5.61	0.85477	.	0.050868	0.85682	D	0.000000	T	0.09818	0.0241	L	0.41824	1.3	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.07028	-1.0794	10	0.45353	T	0.12	.	15.8002	0.78447	0.0:0.0:0.0:1.0	.	1055;1039	Q93009;B7Z815	UBP7_HUMAN;.	G	1055;1063;956	ENSP00000343535:E1055G;ENSP00000443646:E956G	ENSP00000343535:E1055G	E	-	2	0	USP7	8895946	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.577000	0.82486	2.138000	0.66242	0.454000	0.30748	GAG	-	NULL		0.423	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	T			8895946	-1	no_errors	NM_003470	genbank	human	validated	54_36p	missense	SNP	1.000	C
USP7	7874	genome.wustl.edu	37	16	8988939	8988939	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:8988939G>A	ENST00000344836.4	-	28	3186	c.2988C>T	c.(2986-2988)caC>caT	p.H996H	USP7_ENST00000381886.4_Silent_p.H980H|USP7_ENST00000535863.1_Silent_p.H897H	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	996					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AGACCTCTTTGTGGAAATGCG	0.507																																																0			16											261.0	243.0	249.0					16																	8988939		2197	4300	6497	8896440	SO:0001819	synonymous_variant	7874			Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.2988C>T	16.37:g.8988939G>A			8896440	A6NMY8|B7Z815|H0Y3G8	Silent	SNP	HMMPfam_UCH,HMMPfam_MATH,HMMSmart_MATH,superfamily_Traf_like,PatternScan_UCH_2_1,PatternScan_UCH_2_2,superfamily_SSF54001	p.H996	ENST00000344836.4	37	c.2988	CCDS32385.1	16																																																																																			-	NULL		0.507	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	G			8896440	-1	no_errors	NM_003470	genbank	human	validated	54_36p	silent	SNP	1.000	A
LDB2	9079	genome.wustl.edu	37	4	16513654	16513654	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:16513654C>T	ENST00000304523.5	-	6	1012	c.689G>A	c.(688-690)tGc>tAc	p.C230Y	LDB2_ENST00000502640.1_Missense_Mutation_p.C230Y|RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000441778.2_Missense_Mutation_p.C230Y|LDB2_ENST00000515064.1_Missense_Mutation_p.C230Y|LDB2_ENST00000503178.2_Missense_Mutation_p.C106Y	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	230					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GGTCTTCAGGCAGTCTCGGGG	0.473																																																0			4											112.0	102.0	105.0					4																	16513654		2203	4300	6503	16122752	SO:0001583	missense	9079			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.689G>A	4.37:g.16513654C>T	ENSP00000306772:p.Cys230Tyr		16122752	O60619|O75480	Missense_Mutation	SNP	HMMPfam_LIM_bind	p.C230Y	ENST00000304523.5	37	c.689	CCDS3420.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.123381|5.123381	0.94429|0.94429	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000507464|ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	.|T;T;T;T;T	.|0.21361	.|2.01;2.01;2.01;2.01;2.01	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.53514|0.53514	0.1801|0.1801	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.991;1.0;1.0;1.0;0.999;0.999	.|D;D;D;D;D;D;D	.|0.97110	.|1.0;0.99;1.0;1.0;1.0;0.999;0.999	T|T	0.54846|0.54846	-0.8232|-0.8232	5|10	.|0.87932	.|D	.|0	-16.3529|-16.3529	19.632|19.632	0.95713|0.95713	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;196;230;230;230;230;206	.|B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.|.;.;.;.;.;LDB2_HUMAN;.	T|Y	152|230;230;230;230;106	.|ENSP00000422552:C230Y;ENSP00000392089:C230Y;ENSP00000306772:C230Y;ENSP00000423963:C230Y;ENSP00000440940:C106Y	.|ENSP00000306772:C230Y	A|C	-|-	1|2	0|0	LDB2|LDB2	16122752|16122752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.818000|7.818000	0.86416|0.86416	2.890000|2.890000	0.99128|0.99128	0.650000|0.650000	0.86243|0.86243	GCC|TGC	-	HMMPfam_LIM_bind		0.473	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	protein_coding	OTTHUMT00000250321.2	C			16122752	-1	no_errors	NM_001290	genbank	human	validated	54_36p	missense	SNP	1.000	T
RNU1-6P	106480152	genome.wustl.edu	37	1	16862501	16862501	+	lincRNA	SNP	T	T	C	rs545786778	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:16862501T>C	ENST00000516290.1	-	0	0																											catcaattcGTAATTTCCCAT	0.562													.|||	92	0.0183706	0.0023	0.0259	5008	,	,		37885	0.0		0.0557	False		,,,				2504	0.0153															0			1																																								16735088			0																															1.37:g.16862501T>C			16735088		Silent	SNP	NULL	p.R74	ENST00000516290.1	37	c.222		1																																																																																			-	NULL		0.562	U1.2-201	KNOWN	basic	snRNA	ENSG00000197511	lincRNA		T			16735088	+1	no_errors	ENST00000357301	ensembl	human	known	54_36p	silent	SNP	0.004	C
MFAP2	4237	genome.wustl.edu	37	1	17303620	17303620	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:17303620G>C	ENST00000375535.3	-	3	400	c.111C>G	c.(109-111)caC>caG	p.H37Q	RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000375534.3_Missense_Mutation_p.H36Q|MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.H36Q			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	37					extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220)	extracellular region (GO:0005576)|microfibril (GO:0001527)				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGTCGCTATAGTGGGTGTACT	0.637																																																0			1											48.0	39.0	42.0					1																	17303620		2203	4300	6503	17176207	SO:0001583	missense	4237			BC015039	CCDS174.1, CCDS44071.1	1p36.1-p35	2008-02-05			ENSG00000117122	ENSG00000117122			7033	protein-coding gene	gene with protein product		156790				7759096	Standard	NM_017459		Approved	MAGP, MAGP-1	uc001azw.3	P55001	OTTHUMG00000002290	ENST00000375535.3:c.111C>G	1.37:g.17303620G>C	ENSP00000364685:p.His37Gln		17176207	Q53X60|Q5JXY0	Missense_Mutation	SNP	HMMPfam_MAGP,HMMPfam_ShK	p.H37Q	ENST00000375535.3	37	c.111	CCDS174.1	1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636896	0.29157	.	.	ENSG00000117122	ENST00000375535;ENST00000375534;ENST00000438542	.	.	.	4.33	1.15	0.20763	.	0.242206	0.26418	N	0.024495	T	0.19127	0.0459	N	0.16478	0.41	0.30894	N	0.730052	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.002	T	0.08638	-1.0712	9	0.16896	T	0.51	-28.6486	3.6695	0.08269	0.233:0.2097:0.5573:0.0	.	36;37	Q5JXY0;P55001	.;MFAP2_HUMAN	Q	37;36;36	.	ENSP00000364684:H36Q	H	-	3	2	MFAP2	17176207	0.998000	0.40836	0.995000	0.50966	0.907000	0.53573	0.284000	0.18864	0.948000	0.37687	0.462000	0.41574	CAC	-	HMMPfam_MAGP		0.637	MFAP2-001	KNOWN	basic|CCDS	protein_coding	MFAP2	protein_coding	OTTHUMT00000006609.1	G	NM_002403		17176207	-1	no_errors	NM_002403	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
NHLRC1	378884	genome.wustl.edu	37	6	18122526	18122526	+	Silent	SNP	A	A	G	rs115931931	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089															0			6						G		697,3599		63,571,1514	7.0	9.0	9.0		312	-4.7	0.0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	18230505	SO:0001819	synonymous_variant	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.312T>C	6.37:g.18122526A>G			18230505	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF101898,HMMPfam_NHL	p.H104	ENST00000340650.3	37	c.312	CCDS4542.1	6																																																																																			-	superfamily_SSF57850		0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC1	protein_coding	OTTHUMT00000039958.1	A			18230505	-1	no_errors	NM_198586	genbank	human	provisional	54_36p	silent	SNP	0.000	G
NAT2	10	genome.wustl.edu	37	8	18257819	18257819	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:18257819C>T	ENST00000286479.3	+	2	413	c.306C>T	c.(304-306)agC>agT	p.S102S	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	102					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	arylamine N-acetyltransferase activity (GO:0004060)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)	Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015)	ACAAATACAGCACTGGCATGG	0.493									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																							0			8											96.0	99.0	98.0					8																	18257819		2203	4300	6503	18302099	SO:0001819	synonymous_variant	10	Familial Cancer Database	incl.: Familial Head and Neck Cancer	D90042	CCDS6008.1	8p22	2012-01-18			ENSG00000156006	ENSG00000156006	2.3.1.5		7646	protein-coding gene	gene with protein product		612182		AAC2		7773298	Standard	NM_000015		Approved		uc003wyw.1	P11245	OTTHUMG00000130826	ENST00000286479.3:c.306C>T	8.37:g.18257819C>T			18302099	O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220	Silent	SNP	superfamily_SSF54001,HMMPfam_Acetyltransf_2	p.S102	ENST00000286479.3	37	c.306	CCDS6008.1	8																																																																																			-	superfamily_SSF54001,HMMPfam_Acetyltransf_2		0.493	NAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT2	protein_coding	OTTHUMT00000253380.1	C	NM_000015		18302099	+1	no_errors	NM_000015	genbank	human	reviewed	54_36p	silent	SNP	0.000	T
ECE1	1889	genome.wustl.edu	37	1	21551823	21551823	+	Missense_Mutation	SNP	C	C	T	rs140832903	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:21551823C>T	ENST00000374893.6	-	17	2034	c.1960G>A	c.(1960-1962)Gtg>Atg	p.V654M	ECE1_ENST00000357071.4_Missense_Mutation_p.V642M|ECE1_ENST00000264205.6_Missense_Mutation_p.V651M|ECE1_ENST00000415912.2_Missense_Mutation_p.V638M|ECE1_ENST00000436918.2_Missense_Mutation_p.V654M	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	654					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		TCCCCGTTCACGCTGTAGTTG	0.637													C|||	3	0.000599042	0.0008	0.0	5008	,	,		17793	0.002		0.0	False		,,,				2504	0.0															0			1						C	MET/VAL,MET/VAL,MET/VAL,MET/VAL	2,4404	4.2+/-10.8	0,2,2201	133.0	107.0	116.0		1924,1912,1951,1960	5.4	1.0	1	dbSNP_134	116	0,8600		0,0,4300	yes	missense,missense,missense,missense	ECE1	NM_001113347.1,NM_001113348.1,NM_001113349.1,NM_001397.2	21,21,21,21	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging	642/759,638/755,651/768,654/771	21551823	2,13004	2203	4300	6503	21424410	SO:0001583	missense	1889			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.1960G>A	1.37:g.21551823C>T	ENSP00000364028:p.Val654Met		21424410	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13_N,HMMPfam_Peptidase_M13,PatternScan_ZINC_PROTEASE"	p.V654M	ENST00000374893.6	37	c.1960	CCDS215.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102644	0.76983	4.54E-4	0.0	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.36	5.36	0.76844	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.062493	0.64402	D	0.000004	D	0.90414	0.6999	M	0.77616	2.38	0.43214	D	0.995087	B;D;P;D;D	0.76494	0.439;0.998;0.784;0.999;0.997	B;D;B;P;P	0.63703	0.23;0.917;0.215;0.865;0.865	D	0.90782	0.4680	10	0.52906	T	0.07	-30.178	17.6751	0.88228	0.0:1.0:0.0:0.0	.	654;638;654;642;651	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	M	638;642;654;654;651	ENSP00000405088:V638M;ENSP00000349581:V642M;ENSP00000364028:V654M;ENSP00000388439:V654M;ENSP00000264205:V651M	ENSP00000264205:V651M	V	-	1	0	ECE1	21424410	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.946000	0.49050	2.500000	0.84329	0.467000	0.42956	GTG	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M13"		0.637	ECE1-002	KNOWN	basic|CCDS	protein_coding	ECE1	protein_coding	OTTHUMT00000007470.2	C	NM_001397		21424410	-1	no_errors	NM_001397	genbank	human	validated	54_36p	missense	SNP	1.000	T
LINC01239	441389	genome.wustl.edu	37	9	22747941	22747941	+	lincRNA	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr9:22747941C>A	ENST00000436786.1	+	0	524					NR_038977.1																						CTGAATTCTCCTCTCCCTGAT	0.398																																																0			9																																								22737941			0																															9.37:g.22747941C>A			22737941		RNA	SNP	-	NULL	ENST00000436786.1	37	NULL		9																																																																																			-	-		0.398	RP11-399D6.2-001	KNOWN	basic	lincRNA	LOC646609	lincRNA	OTTHUMT00000051938.1	C			22737941	+1	pseudogene	XR_037907	genbank	human	model	54_36p	rna	SNP	1.000	A
ENTPD6	955	genome.wustl.edu	37	20	25203487	25203487	+	Silent	SNP	C	C	T	rs375550123		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:25203487C>T	ENST00000376652.4	+	12	1222	c.1059C>T	c.(1057-1059)caC>caT	p.H353H	ENTPD6_ENST00000354989.5_Silent_p.H336H|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000360031.2_Silent_p.H352H|ENTPD6_ENST00000433259.2_Silent_p.H319H			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	353					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CAAGCCTGCACGAGCTGTGTG	0.587																																																0			20						C	,	0,4406		0,0,2203	137.0	113.0	121.0		1008,1059	-7.4	0.0	20		121	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ENTPD6	NM_001114089.1,NM_001247.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	336/468,353/485	25203487	1,13005	2203	4300	6503	25151487	SO:0001819	synonymous_variant	955			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.1059C>T	20.37:g.25203487C>T			25151487	A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Silent	SNP	HMMPfam_GDA1_CD39,PatternScan_GDA1_CD39_NTPASE	p.H353	ENST00000376652.4	37	c.1059	CCDS13170.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.770|3.770	-0.047874|-0.047874	0.07407|0.07407	0.0|0.0	1.16E-4|1.16E-4	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000433417;ENST00000447877	.|.	.|.	.|.	5.5|5.5	-7.45|-7.45	0.01374|0.01374	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40595	.|0.1123	.|.	.|.	.|.	0.23704|0.23704	N|N	0.997065|0.997065	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42682	.|-0.9437	.|4	.|.	.|.	.|.	-5.9311|-5.9311	15.7592|15.7592	0.78063|0.78063	0.0:0.2716:0.0:0.7284|0.0:0.2716:0.0:0.7284	.|.	.|.	.|.	.|.	X|M	177|274;212	.|.	.|.	R|T	+|+	1|2	2|0	ENTPD6|ENTPD6	25151487|25151487	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	-2.298000|-2.298000	0.01140|0.01140	-1.271000|-1.271000	0.02430|0.02430	-1.406000|-1.406000	0.01132|0.01132	CGA|ACG	-	HMMPfam_GDA1_CD39		0.587	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	protein_coding	OTTHUMT00000078414.2	C			25151487	+1	no_errors	NM_001247	genbank	human	reviewed	54_36p	silent	SNP	0.055	T
NF1	4763	genome.wustl.edu	37	17	29576134	29576134	+	Nonsense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:29576134C>A	ENST00000358273.4	+	30	4490	c.4107C>A	c.(4105-4107)taC>taA	p.Y1369*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y1369*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1369	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											155.0	141.0	146.0					17																	29576134		2203	4300	6503	26600260	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4107C>A	17.37:g.29576134C>A	ENSP00000351015:p.Tyr1369*		26600260	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMSmart_SM00516	p.Y1369*	ENST00000358273.4	37	c.4107	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	45	11.945545	0.99620	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.74	2.59	0.31030	.	0.061164	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.5295	0.44969	0.0:0.7448:0.0:0.2552	.	.	.	.	X	1369;1369;1035	.	ENSP00000348498:Y1369X	Y	+	3	2	NF1	26600260	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.793000	0.26944	0.393000	0.25203	0.563000	0.77884	TAC	-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP		0.403	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267		26600260	+1	no_errors	NM_001042492	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
MASTL	84930	genome.wustl.edu	37	10	27459897	27459897	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:27459897C>G	ENST00000375940.4	+	8	2066	c.2009C>G	c.(2008-2010)cCa>cGa	p.P670R	MASTL_ENST00000342386.6_Missense_Mutation_p.P670R|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375946.4_Missense_Mutation_p.P670R			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	670	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTCAGAACCATCCAGAATG	0.398																																																0			10											115.0	118.0	117.0					10																	27459897		2203	4300	6503	27499903	SO:0001583	missense	84930			BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2009C>G	10.37:g.27459897C>G	ENSP00000365107:p.Pro670Arg		27499903	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Missense_Mutation	SNP	superfamily_Kinase_like,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMSmart_S_TK_X	p.P670R	ENST00000375940.4	37	c.2009	CCDS53502.1	10	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056866	0.76074	.	.	ENSG00000120539	ENST00000375946;ENST00000342386;ENST00000375940	T;T;T	0.21031	2.03;2.03;2.03	5.53	5.53	0.82687	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159303	0.56097	D	0.000024	T	0.48909	0.1526	M	0.72894	2.215	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.44467	-0.9326	10	0.56958	D	0.05	-18.6968	19.4612	0.94918	0.0:1.0:0.0:0.0	.	670;670;670	Q96GX5-2;Q96GX5;Q96GX5-3	.;GWL_HUMAN;.	R	670	ENSP00000365113:P670R;ENSP00000343446:P670R;ENSP00000365107:P670R	ENSP00000343446:P670R	P	+	2	0	MASTL	27499903	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.986000	0.56937	2.592000	0.87571	0.591000	0.81541	CCA	-	superfamily_Kinase_like		0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MASTL	protein_coding	OTTHUMT00000047320.1	C	NM_032844		27499903	+1	no_errors	NM_032844	genbank	human	validated	54_36p	missense	SNP	1.000	G
NF2	4771	genome.wustl.edu	37	22	30061031	30061031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr22:30061031C>G	ENST00000338641.4	+	9	1304	c.863C>G	c.(862-864)tCa>tGa	p.S288*	NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Nonsense_Mutation_p.S205*|NF2_ENST00000347330.5_Nonsense_Mutation_p.S129*|NF2_ENST00000361452.4_Nonsense_Mutation_p.S247*|NF2_ENST00000397789.3_Nonsense_Mutation_p.S288*|NF2_ENST00000403435.1_Nonsense_Mutation_p.S288*|NF2_ENST00000403999.3_Nonsense_Mutation_p.S288*|NF2_ENST00000361166.4_Nonsense_Mutation_p.S288*|NF2_ENST00000361676.4_Nonsense_Mutation_p.S246*|NF2_ENST00000334961.7_Nonsense_Mutation_p.S205*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	288	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.F271_L295del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTTAACTCCTCAAAGCTTCGT	0.353			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	4	Unknown(3)|Deletion - In frame(1)	central_nervous_system(2)|large_intestine(1)|stomach(1)	22											117.0	107.0	111.0					22																	30061031		2203	4300	6503	28391031	SO:0001587	stop_gained	4771	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.863C>G	22.37:g.30061031C>G	ENSP00000344666:p.Ser288*		28391031	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	HMMSmart_SM00295,superfamily_Ubiquitin-like,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_Second domain of FERM,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_PH domain-like,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin tail domain	p.S288*	ENST00000338641.4	37	c.863	CCDS13861.1	22	.	.	.	.	.	.	.	.	.	.	c	40	8.251330	0.98727	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	5.8	5.8	0.92144	.	0.061259	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0872	0.97801	0.0:1.0:0.0:0.0	.	.	.	.	X	129;288;288;247;288;288;205;205;288;246;288	.	.	S	+	2	0	NF2	28391031	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.580000	0.82523	2.755000	0.94549	0.550000	0.68814	TCA	-	superfamily_PH domain-like,HMMPfam_FERM_C		0.353	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	protein_coding	OTTHUMT00000075615.3	C	NM_000268		28391031	+1	no_errors	NM_000268	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	G
LIG3	3980	genome.wustl.edu	37	17	33313065	33313065	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr17:33313065G>A	ENST00000378526.4	+	3	739	c.606G>A	c.(604-606)ttG>ttA	p.L202L	LIG3_ENST00000586407.1_3'UTR|LIG3_ENST00000262327.5_Silent_p.L202L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	202					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AGGCTAAGTTGACAACCACTG	0.458								Other BER factors																																								0			17											139.0	135.0	136.0					17																	33313065		2203	4300	6503	30337178	SO:0001819	synonymous_variant	3980				CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.606G>A	17.37:g.33313065G>A			30337178	Q16714|Q6NVK3	Silent	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_DNA_ligase_A_N,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C,superfamily_BRCT domain,HMMSmart_SM00292	p.L202	ENST00000378526.4	37	c.606	CCDS11284.2	17																																																																																			-	superfamily_Glucocorticoid receptor-like (DNA-binding domain)		0.458	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIG3	protein_coding	OTTHUMT00000250330.3	G	NM_013975		30337178	+1	no_errors	NM_013975	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
AQP1	358	genome.wustl.edu	37	7	30963206	30963206	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:30963206G>A	ENST00000311813.4	+	4	827	c.772G>A	c.(772-774)Gac>Aac	p.D258N	AQP1_ENST00000409899.1_Missense_Mutation_p.D143N|AQP1_ENST00000441328.2_Missense_Mutation_p.D175N|AQP1_ENST00000434909.2_Missense_Mutation_p.D318N|AQP1_ENST00000509504.1_Missense_Mutation_p.D435N|AQP1_ENST00000482461.1_3'UTR|AQP1_ENST00000409611.1_Missense_Mutation_p.D207N	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	258					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	CCTGGATGCCGACGACATCAA	0.642																																																0			7											45.0	38.0	40.0					7																	30963206		2203	4300	6503	30929731	SO:0001583	missense	358			M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.772G>A	7.37:g.30963206G>A	ENSP00000311165:p.Asp258Asn		30929731	B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	superfamily_Aquaporin-like,HMMPfam_MIP,PatternScan_MIP	p.D258N	ENST00000311813.4	37	c.772	CCDS5431.1	7	.	.	.	.	.	.	.	.	.	.	G	20.8	4.048551	0.75846	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000441328;ENST00000409899;ENST00000409611;ENST00000509504	D;D;D;D;D;D	0.94723	-2.41;-2.12;-3.11;-3.5;-3.14;-2.41	5.07	5.07	0.68467	.	0.366720	0.32002	N	0.006728	D	0.93041	0.7785	L	0.36672	1.1	0.33363	D	0.572633	D;D;P;P	0.63046	0.991;0.992;0.553;0.923	P;B;B;B	0.50617	0.646;0.41;0.088;0.238	D	0.95256	0.8364	10	0.54805	T	0.06	-6.2622	13.9555	0.64144	0.0:0.0:1.0:0.0	.	318;207;143;258	B4E220;E7EM69;E9PC21;P29972	.;.;.;AQP1_HUMAN	N	318;163;258;243;175;143;207;435	ENSP00000395059:D318N;ENSP00000311165:D258N;ENSP00000405698:D175N;ENSP00000386712:D143N;ENSP00000387178:D207N;ENSP00000421315:D435N	ENSP00000265298:D163N	D	+	1	0	RP5-877J2.1;AQP1	30929731	1.000000	0.71417	0.169000	0.22859	0.727000	0.41649	5.531000	0.67148	2.345000	0.79718	0.549000	0.68633	GAC	-	NULL		0.642	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP1	protein_coding	OTTHUMT00000215002.3	G	NM_000385		30929731	+1	no_errors	NM_198098	genbank	human	reviewed	54_36p	missense	SNP	0.265	A
ITGAM	3684	genome.wustl.edu	37	16	31309089	31309089	+	Silent	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:31309089T>G	ENST00000287497.8	+	14	1596	c.1521T>G	c.(1519-1521)gcT>gcG	p.A507A	ITGAM_ENST00000544665.3_Silent_p.A508A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	507					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGTGTGATGCTGTTCTCTACG	0.647																																																0			16											62.0	66.0	65.0					16																	31309089		2175	4284	6459	31216590	SO:0001819	synonymous_variant	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1521T>G	16.37:g.31309089T>G			31216590	Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	superfamily_SSF69318,HMMSmart_Int_alpha,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.A507	ENST00000287497.8	37	c.1521	CCDS45470.1	16																																																																																			-	superfamily_SSF69318,HMMSmart_Int_alpha		0.647	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITGAM	protein_coding	OTTHUMT00000432816.1	T	NM_000632		31216590	+1	no_errors	NM_000632	genbank	human	reviewed	54_36p	silent	SNP	0.001	G
CSMD2	114784	genome.wustl.edu	37	1	34238304	34238304	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:34238304C>A	ENST00000338325.1	-	7	948	c.536G>T	c.(535-537)cGg>cTg	p.R179L	CSMD2_ENST00000373381.4_Missense_Mutation_p.R571L			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522																																																0			1											93.0	91.0	92.0					1																	34238304		2203	4300	6503	34010891	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000338325.1:c.536G>T	1.37:g.34238304C>A	ENSP00000340311:p.Arg179Leu		34010891	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10,PatternScan_IG_MHC	p.R531L	ENST00000338325.1	37	c.1592		1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170850	0.21621	.	.	ENSG00000121904	ENST00000373381;ENST00000338325	T;T	0.64618	-0.11;-0.11	6.06	0.689	0.18033	Complement control module (2);Sushi/SCR/CCP (3);	0.190177	0.44097	D	0.000482	T	0.45597	0.1350	L	0.38175	1.15	0.80722	D	1	B;B	0.19331	0.035;0.023	B;B	0.33750	0.169;0.169	T	0.09250	-1.0683	10	0.11485	T	0.65	.	3.8697	0.09031	0.2561:0.4376:0.0:0.3063	.	531;571	Q7Z408;E7EUA6	CSMD2_HUMAN;.	L	571;179	ENSP00000362479:R571L;ENSP00000340311:R179L	ENSP00000241312:R531L	R	-	2	0	CSMD2	34010891	0.761000	0.28439	0.987000	0.45799	0.987000	0.75469	0.464000	0.21988	-0.117000	0.11872	-0.137000	0.14449	CGG	-	superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032		0.522	CSMD2-004	KNOWN	basic	protein_coding	CSMD2	protein_coding	OTTHUMT00000036404.2	C	NM_052896		34010891	-1	no_errors	NM_052896	genbank	human	validated	54_36p	missense	SNP	1.000	A
CA9	768	genome.wustl.edu	37	9	35674344	35674344	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr9:35674344C>A	ENST00000378357.4	+	1	492	c.388C>A	c.(388-390)Cac>Aac	p.H130N	RN7SL22P_ENST00000471800.2_RNA	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	130	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GAATAATGCCCACAGGGACAA	0.498																																																0			9											54.0	51.0	52.0					9																	35674344		2203	4295	6498	35664344	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.388C>A	9.37:g.35674344C>A	ENSP00000367608:p.His130Asn		35664344	Q5T4R1	Missense_Mutation	SNP	superfamily_Euk_COanhd,HMMPfam_Carb_anhydrase,PatternScan_ALPHA_CA_1	p.H130N	ENST00000378357.4	37	c.388	CCDS6585.1	9	.	.	.	.	.	.	.	.	.	.	C	16.75	3.209771	0.58343	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.63096	-0.02	5.01	5.01	0.66863	.	0.613414	0.13660	N	0.371642	T	0.70911	0.3278	L	0.36672	1.1	0.31124	N	0.708568	B;D	0.63880	0.202;0.993	B;D	0.70935	0.188;0.971	T	0.70586	-0.4831	10	0.87932	D	0	.	13.6936	0.62564	0.0:1.0:0.0:0.0	.	130;130	F5H404;Q16790	.;CAH9_HUMAN	N	130	ENSP00000367608:H130N	ENSP00000367608:H130N	H	+	1	0	CA9	35664344	0.089000	0.21612	0.947000	0.38551	0.854000	0.48673	1.773000	0.38563	2.606000	0.88127	0.655000	0.94253	CAC	-	NULL		0.498	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA9	protein_coding	OTTHUMT00000055479.1	C	NM_001216		35664344	+1	no_errors	NM_001216	genbank	human	reviewed	54_36p	missense	SNP	0.561	A
NUP155	9631	genome.wustl.edu	37	5	37310771	37310771	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:37310771T>G	ENST00000231498.3	-	23	2714	c.2511A>C	c.(2509-2511)ttA>ttC	p.L837F	NUP155_ENST00000513532.1_Intron|NUP155_ENST00000502533.1_5'Flank|NUP155_ENST00000381843.2_Missense_Mutation_p.L778F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	837					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGCAATTAATGCCCCTG	0.398																																																0			5											147.0	149.0	148.0					5																	37310771		2203	4300	6503	37346528	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2511A>C	5.37:g.37310771T>G	ENSP00000231498:p.Leu837Phe		37346528	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	HMMPfam_Nucleoporin	p.L837F	ENST00000231498.3	37	c.2511	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246959	0.59103	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056	D;D	0.91068	-2.78;-2.76	5.72	2.79	0.32731	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.063977	0.64402	D	0.000012	D	0.92368	0.7578	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	D	0.77557	0.99	D	0.89727	0.3923	10	0.66056	D	0.02	-1.7977	1.5044	0.02484	0.1208:0.2175:0.1812:0.4805	.	837	O75694	NU155_HUMAN	F	837;778;799	ENSP00000231498:L837F;ENSP00000371265:L778F	ENSP00000231498:L837F	L	-	3	2	NUP155	37346528	0.116000	0.22171	1.000000	0.80357	0.998000	0.95712	-0.668000	0.05268	0.865000	0.35603	0.455000	0.32223	TTA	-	HMMPfam_Nucleoporin		0.398	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	protein_coding	OTTHUMT00000207593.2	T	NM_153485, NM_004298		37346528	-1	no_errors	NM_153485	genbank	human	reviewed	54_36p	missense	SNP	0.973	G
SETBP1	26040	genome.wustl.edu	37	18	42532487	42532487	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr18:42532487T>C	ENST00000282030.5	+	4	3478	c.3182T>C	c.(3181-3183)aTg>aCg	p.M1061T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1061						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATGCCTATGATGAACCTTGGT	0.488									Schinzel-Giedion syndrome																																							0			18											116.0	96.0	103.0					18																	42532487		2203	4300	6503	40786485	SO:0001583	missense	26040	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3182T>C	18.37:g.42532487T>C	ENSP00000282030:p.Met1061Thr		40786485	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	HMMPfam_AT_hook,HMMSmart_AT_hook	p.M1007T	ENST00000282030.5	37	c.3020	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	T	14.29	2.489822	0.44249	.	.	ENSG00000152217	ENST00000282030	T	0.69435	-0.4	5.68	5.68	0.88126	.	0.041667	0.85682	D	0.000000	T	0.65344	0.2682	N	0.14661	0.345	0.44762	D	0.997763	D	0.62365	0.991	P	0.56751	0.805	T	0.71790	-0.4486	10	0.72032	D	0.01	.	15.9269	0.79624	0.0:0.0:0.0:1.0	.	1061	Q9Y6X0	SETBP_HUMAN	T	1061	ENSP00000282030:M1061T	ENSP00000282030:M1061T	M	+	2	0	SETBP1	40786485	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.013000	0.88655	2.174000	0.68829	0.459000	0.35465	ATG	-	NULL		0.488	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	protein_coding	OTTHUMT00000255854.4	T	NM_001130110		40786485	+1	no_errors	NM_015559	genbank	human	validated	54_36p	missense	SNP	1.000	C
ZNF335	63925	genome.wustl.edu	37	20	44588999	44588999	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr20:44588999C>T	ENST00000322927.2	-	14	1968	c.1868G>A	c.(1867-1869)tGt>tAt	p.C623Y	ZNF335_ENST00000426788.1_Missense_Mutation_p.C468Y	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	623					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACAGAACTCACACTTGAACCT	0.552																																																0			20											82.0	97.0	92.0					20																	44588999		2203	4300	6503	44022406	SO:0001583	missense	63925			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1868G>A	20.37:g.44588999C>T	ENSP00000325326:p.Cys623Tyr		44022406	B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.C623Y	ENST00000322927.2	37	c.1868	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743968	0.69418	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.58358	0.34;0.34	5.37	5.37	0.77165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.61937	0.2387	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.65763	-0.6089	10	0.87932	D	0	-14.8457	18.2884	0.90121	0.0:1.0:0.0:0.0	.	468;623	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	Y	623;400;468	ENSP00000325326:C623Y;ENSP00000397098:C468Y	ENSP00000243961:C400Y	C	-	2	0	ZNF335	44022406	1.000000	0.71417	0.992000	0.48379	0.966000	0.64601	7.302000	0.78861	2.808000	0.96608	0.650000	0.86243	TGT	-	HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.552	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	C	NM_022095		44022406	-1	no_errors	NM_022095	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FCGBP	8857	genome.wustl.edu	37	19	40408684	40408684	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr19:40408684C>A	ENST00000221347.6	-	8	4162	c.4155G>T	c.(4153-4155)caG>caT	p.Q1385H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1385	VWFD 3. {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)			GGCCACACATCTGCTGGTAGT	0.562																																																0			19											144.0	124.0	131.0					19																	40408684		2203	4300	6503	45100524	SO:0001583	missense	8857			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.4155G>T	19.37:g.40408684C>A	ENSP00000221347:p.Gln1385His		45100524	O95784	Missense_Mutation	SNP	HMMSmart_FOLN,HMMSmart_VWD,HMMPfam_VWD,HMMPfam_C8,superfamily_Cysrich_TIL,HMMPfam_TIL,HMMPfam_TIL_assoc,HMMSmart_VWC	p.Q1385H	ENST00000221347.6	37	c.4155	CCDS12546.1	19	.	.	.	.	.	.	.	.	.	.	C	6.922	0.539814	0.13250	.	.	ENSG00000090920	ENST00000221347	T	0.60672	0.17	4.71	3.67	0.42095	von Willebrand factor, type D domain (3);	0.262657	0.30949	N	0.008545	T	0.39358	0.1075	L	0.27975	0.815	0.09310	N	0.999996	B	0.22003	0.063	B	0.22880	0.042	T	0.26087	-1.0113	10	0.48119	T	0.1	.	4.513	0.11921	0.1867:0.6382:0.0:0.1751	.	1385	Q9Y6R7	FCGBP_HUMAN	H	1385	ENSP00000221347:Q1385H	ENSP00000221347:Q1385H	Q	-	3	2	FCGBP	45100524	0.000000	0.05858	0.990000	0.47175	0.148000	0.21650	-0.141000	0.10327	0.990000	0.38787	-0.164000	0.13417	CAG	-	HMMSmart_VWD,HMMPfam_VWD		0.562	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	protein_coding	OTTHUMT00000462507.1	C	NM_003890		45100524	-1	no_errors	NM_003890	genbank	human	validated	54_36p	missense	SNP	0.562	A
NASP	4678	genome.wustl.edu	37	1	46081037	46081037	+	Missense_Mutation	SNP	T	T	C	rs546656039		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:46081037T>C	ENST00000350030.3	+	11	2003	c.1916T>C	c.(1915-1917)aTt>aCt	p.I639T	NASP_ENST00000351223.3_Missense_Mutation_p.I300T|NASP_ENST00000402363.3_Missense_Mutation_p.I641T|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000372052.4_Missense_Mutation_p.I273T|NASP_ENST00000537798.1_Missense_Mutation_p.I575T	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	639	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AAGAAAGAAATTGAGGAACTA	0.408																																																0			1											96.0	95.0	95.0					1																	46081037		2203	4300	6503	45853624	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1916T>C	1.37:g.46081037T>C	ENSP00000255120:p.Ile639Thr		45853624	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	HMMPfam_TPR_1,HMMSmart_TPR,superfamily_SSF48452,HMMPfam_SHNi-TPR	p.I641T	ENST00000350030.3	37	c.1922	CCDS524.1	1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483538	0.84854	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223	D;D;T;D;T;T	0.94417	-3.42;-3.42;0.68;-3.42;0.54;0.56	5.14	5.14	0.70334	.	0.174115	0.64402	D	0.000008	D	0.95850	0.8649	M	0.67397	2.05	0.48975	D	0.999731	D;P;P;D	0.62365	0.991;0.872;0.938;0.963	P;B;P;P	0.57101	0.813;0.301;0.632;0.798	D	0.96323	0.9238	10	0.87932	D	0	-9.7065	15.2619	0.73631	0.0:0.0:0.0:1.0	.	575;300;639;641	F5H3J2;Q5T626;P49321;P49321-3	.;.;NASP_HUMAN;.	T	575;641;539;236;639;273;300	ENSP00000438871:I575T;ENSP00000384529:I641T;ENSP00000432289:I236T;ENSP00000255120:I639T;ENSP00000361122:I273T;ENSP00000255121:I300T	ENSP00000345532:I539T	I	+	2	0	NASP	45853624	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.533000	0.60615	2.069000	0.61940	0.533000	0.62120	ATT	-	superfamily_SSF48452		0.408	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	protein_coding	OTTHUMT00000021533.2	T	NM_002482		45853624	+1	no_errors	NM_172164	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
LINC00842	643650	genome.wustl.edu	37	10	47133747	47133747	+	lincRNA	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:47133747T>C	ENST00000422732.2	-	0	435					NR_033957.2				long intergenic non-protein coding RNA 842																		CATCTCTTGCTTTGACAGGGC	0.443																																																0			10																																								46553753			728643					10q11.22	2013-01-04			ENSG00000223477	ENSG00000274909		"""Long non-coding RNAs"""	44989	non-coding RNA	RNA, long non-coding							Standard	NR_033957		Approved		uc001jef.3		OTTHUMG00000018109		10.37:g.47133747T>C			46553753		RNA	SNP	-	NULL	ENST00000422732.2	37	NULL		10																																																																																			-	-		0.443	LINC00842-002	KNOWN	basic	lincRNA	LOC728643	lincRNA	OTTHUMT00000047838.2	T	NR_033957		46553753	-1	pseudogene	NR_003277	genbank	human	provisional	54_36p	rna	SNP	1.000	C
MSH6	2956	genome.wustl.edu	37	2	48027468	48027468	+	Silent	SNP	C	C	G	rs267608065		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:48027468C>G	ENST00000234420.5	+	4	2498	c.2346C>G	c.(2344-2346)ctC>ctG	p.L782L	MSH6_ENST00000538136.1_Silent_p.L480L|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Silent_p.L652L	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	782					ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGCCCCACTCTGTAACCATT	0.438			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	2	Whole gene deletion(2)	haematopoietic_and_lymphoid_tissue(2)	2											144.0	141.0	142.0					2																	48027468		2203	4300	6503	47880972	SO:0001819	synonymous_variant	2956	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.2346C>G	2.37:g.48027468C>G			47880972	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_DNA repair protein MutS domain I,HMMPfam_MutS_I,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00534,PatternScan_DNA_MISMATCH_REPAIR_2	p.L782	ENST00000234420.5	37	c.2346	CCDS1836.1	2																																																																																			-	HMMPfam_MutS_III,superfamily_DNA repair protein MutS domain III,HMMSmart_SM00533		0.438	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH6	protein_coding	OTTHUMT00000251180.4	C	NM_000179		47880972	+1	no_errors	NM_000179	genbank	human	reviewed	54_36p	silent	SNP	0.999	G
GDF2	2658	genome.wustl.edu	37	10	48414224	48414224	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:48414224A>T	ENST00000249598.1	-	2	803	c.644T>A	c.(643-645)gTc>gAc	p.V215D		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	215					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGGACCGGACCCAGCGCTT	0.587																																																0			10											71.0	73.0	72.0					10																	48414224		2203	4300	6503	48034230	SO:0001583	missense	2658			AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.644T>A	10.37:g.48414224A>T	ENSP00000249598:p.Val215Asp		48034230	Q5VSQ9|Q9Y571	Missense_Mutation	SNP	HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1	p.V215D	ENST00000249598.1	37	c.644	CCDS7219.1	10	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690039	0.48097	.	.	ENSG00000128802	ENST00000249598	T	0.67698	-0.28	5.59	3.25	0.37280	Transforming growth factor-beta, N-terminal (1);	0.572507	0.20272	N	0.095622	T	0.72566	0.3476	M	0.70595	2.14	0.50171	D	0.999858	P	0.47484	0.896	P	0.55455	0.776	T	0.66348	-0.5946	10	0.22706	T	0.39	.	9.2502	0.37551	0.8525:0.0:0.1475:0.0	.	215	Q9UK05	GDF2_HUMAN	D	215	ENSP00000249598:V215D	ENSP00000249598:V215D	V	-	2	0	GDF2	48034230	0.627000	0.27129	0.997000	0.53966	0.312000	0.27988	2.532000	0.45659	0.408000	0.25621	0.482000	0.46254	GTC	-	HMMPfam_TGFb_propeptide		0.587	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF2	protein_coding	OTTHUMT00000047891.1	A	NM_016204		48034230	-1	no_errors	NM_016204	genbank	human	reviewed	54_36p	missense	SNP	0.855	T
CCDC120	90060	genome.wustl.edu	37	X	48921456	48921456	+	Missense_Mutation	SNP	G	G	T	rs150262550		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chrX:48921456G>T	ENST00000376396.3	+	5	467	c.248G>T	c.(247-249)cGc>cTc	p.R83L	CCDC120_ENST00000597275.1_Missense_Mutation_p.R83L|CCDC120_ENST00000422185.2_Missense_Mutation_p.R83L|CCDC120_ENST00000496529.2_Missense_Mutation_p.R83L|CCDC120_ENST00000603986.1_Missense_Mutation_p.R118L|CCDC120_ENST00000536628.2_Missense_Mutation_p.R71L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	83										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CAGTTGGTCCGCCGGCGGCCC	0.672																																																0			X											18.0	18.0	18.0					X																	48921456		2199	4290	6489	48808400	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.248G>T	X.37:g.48921456G>T	ENSP00000365577:p.Arg83Leu		48808400	B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	NULL	p.R83L	ENST00000376396.3	37	c.248	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.699484	0.88830	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.6	4.6	0.57074	.	0.000000	0.52532	D	0.000076	T	0.76227	0.3958	M	0.65677	2.01	0.41678	D	0.989278	D;D;D;D	0.69078	0.994;0.997;0.997;0.994	D;D;D;D	0.81914	0.988;0.995;0.995;0.988	T	0.79794	-0.1653	9	0.87932	D	0	-5.5035	13.6095	0.62068	0.0:0.0:1.0:0.0	.	71;118;71;83	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	L	83;83;71	.	ENSP00000365577:R83L	R	+	2	0	CCDC120	48808400	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.590000	0.61013	1.892000	0.54788	0.468000	0.43344	CGC	-	NULL		0.672	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	protein_coding	OTTHUMT00000056528.1	G	NM_033626		48808400	+1	no_errors	NM_033626	genbank	human	provisional	54_36p	missense	SNP	1.000	T
C10orf71	118461	genome.wustl.edu	37	10	50533203	50533203	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:50533203C>T	ENST00000374144.3	+	3	2901	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	871				PI -> RL (in Ref. 5; CAC85340). {ECO:0000305}.						endometrium(1)	1						TTAAACCTATCATGCTGCCTC	0.517																																																0			10											157.0	144.0	148.0					10																	50533203		692	1591	2283	50203209	SO:0001819	synonymous_variant	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.2613C>T	10.37:g.50533203C>T			50203209	A0AVL8	Silent	SNP	PatternScan_SUGAR_TRANSPORT_1	p.I871	ENST00000374144.3	37	c.2613	CCDS44387.1	10																																																																																			-	NULL		0.517	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	C	NM_199459		50203209	+1	no_errors	ENST00000374144	ensembl	human	known	54_36p	silent	SNP	0.717	T
KRT6B	3854	genome.wustl.edu	37	12	52845451	52845451	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:52845451C>A	ENST00000252252.3	-	1	459	c.412G>T	c.(412-414)Gtc>Ttc	p.V138F		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	138	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TTGACAGTGACCTCTTGGATG	0.637																																																0			12											140.0	185.0	170.0					12																	52845451		2201	4300	6501	51131718	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.412G>T	12.37:g.52845451C>A	ENSP00000252252:p.Val138Phe		51131718	P48669	Missense_Mutation	SNP	HMMPfam_Filament,PatternScan_IF	p.V138F	ENST00000252252.3	37	c.412	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	23.2	4.392902	0.83011	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.91686	-2.89	3.28	3.28	0.37604	.	0.000000	0.53938	D	0.000053	D	0.97114	0.9057	H	0.95574	3.69	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.98358	1.0547	10	0.87932	D	0	.	15.9007	0.79373	0.0:1.0:0.0:0.0	.	138	P04259	K2C6B_HUMAN	F	138	ENSP00000252252:V138F	ENSP00000252252:V138F	V	-	1	0	KRT6B	51131718	.	.	1.000000	0.80357	0.921000	0.55340	.	.	2.160000	0.67779	0.298000	0.19748	GTC	-	NULL		0.637	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	protein_coding	OTTHUMT00000404969.1	C	NM_005555		51131718	-1	no_errors	NM_005555	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
OR8K1	390157	genome.wustl.edu	37	11	56114246	56114246	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:56114246C>G	ENST00000279783.2	+	1	826	c.732C>G	c.(730-732)ttC>ttG	p.F244L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ACAAAGCCTTCTCCACCTGTA	0.403										HNSCC(65;0.19)																																						0			11											121.0	105.0	110.0					11																	56114246		2201	4296	6497	55870822	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.732C>G	11.37:g.56114246C>G	ENSP00000279783:p.Phe244Leu		55870822	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.F244L	ENST00000279783.2	37	c.732	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550773	0.65311	.	.	ENSG00000150261	ENST00000279783	T	0.00269	8.37	5.0	2.04	0.26737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000089	T	0.00300	0.0009	M	0.75447	2.3	0.34387	D	0.693786	D	0.56746	0.977	P	0.55011	0.766	T	0.68236	-0.5462	10	0.51188	T	0.08	-27.8798	3.2966	0.06968	0.1203:0.5569:0.1171:0.2057	.	244	Q8NGG5	OR8K1_HUMAN	L	244	ENSP00000279783:F244L	ENSP00000279783:F244L	F	+	3	2	OR8K1	55870822	0.000000	0.05858	1.000000	0.80357	0.990000	0.78478	-0.260000	0.08708	0.493000	0.27837	0.549000	0.68633	TTC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.403	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	protein_coding	OTTHUMT00000391605.1	C	NM_001002907		55870822	+1	no_errors	NM_001002907	genbank	human	provisional	54_36p	missense	SNP	1.000	G
MS4A12	54860	genome.wustl.edu	37	11	60269504	60269504	+	Missense_Mutation	SNP	C	C	T	rs200547614	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:60269504C>T	ENST00000016913.4	+	4	520	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	MS4A12_ENST00000537076.1_Missense_Mutation_p.R109C	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	155						integral component of membrane (GO:0016021)		p.R155S(1)		breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGAGCTTTCCCGTTGTCTGGT	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		18256	0.003		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	lung(1)	11											218.0	208.0	212.0					11																	60269504		2203	4300	6503	60026080	SO:0001583	missense	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.463C>T	11.37:g.60269504C>T	ENSP00000016913:p.Arg155Cys		60026080	F5GX98|Q8N6L4	Missense_Mutation	SNP	HMMPfam_CD20	p.R155C	ENST00000016913.4	37	c.463	CCDS7988.1	11	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630898	0.28978	.	.	ENSG00000071203	ENST00000537076;ENST00000526784;ENST00000016913	T;T;T	0.02656	4.21;4.21;4.21	5.21	-5.7	0.02421	.	2.546630	0.01192	N	0.007350	T	0.03348	0.0097	L	0.39898	1.24	0.09310	N	1	P	0.49635	0.926	P	0.45946	0.498	T	0.32025	-0.9922	10	0.59425	D	0.04	.	1.0954	0.01672	0.2983:0.3249:0.0981:0.2787	.	155	Q9NXJ0	M4A12_HUMAN	C	109;109;155	ENSP00000440424:R109C;ENSP00000431959:R109C;ENSP00000016913:R155C	ENSP00000016913:R155C	R	+	1	0	MS4A12	60026080	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.916000	0.01576	-1.350000	0.02199	-1.945000	0.00491	CGT	-	HMMPfam_CD20		0.398	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	protein_coding	OTTHUMT00000383627.1	C			60026080	+1	no_errors	NM_017716	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
NCR1	9437	genome.wustl.edu	37	19	55418134	55418134	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr19:55418134G>C	ENST00000291890.4	+	3	362	c.324G>C	c.(322-324)gaG>gaC	p.E108D	NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.E108D|NCR1_ENST00000598576.1_Missense_Mutation_p.E96D|NCR1_ENST00000594765.1_Missense_Mutation_p.E108D|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000338835.5_Missense_Mutation_p.E108D	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	108	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCTGGTCAGAGCCCAGCAACT	0.517																																																0			19											78.0	85.0	83.0					19																	55418134		2203	4300	6503	60109946	SO:0001583	missense	9437			AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.324G>C	19.37:g.55418134G>C	ENSP00000291890:p.Glu108Asp		60109946	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409	p.E108D	ENST00000291890.4	37	c.324	CCDS12911.1	19	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626723	0.28978	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.13657	2.57;2.57;2.57	3.42	0.0562	0.14318	Immunoglobulin-like fold (1);	0.574932	0.15684	N	0.249799	T	0.13543	0.0328	M	0.75085	2.285	0.09310	N	1	B;B;B	0.32620	0.378;0.154;0.295	B;B;B	0.31290	0.121;0.077;0.127	T	0.19031	-1.0318	10	0.62326	D	0.03	.	3.1941	0.06628	0.2298:0.0:0.5641:0.2061	.	108;108;108	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	D	108	ENSP00000291890:E108D;ENSP00000404434:E108D;ENSP00000339515:E108D	ENSP00000291890:E108D	E	+	3	2	NCR1	60109946	0.003000	0.15002	0.001000	0.08648	0.101000	0.19017	0.018000	0.13422	0.110000	0.17919	-0.263000	0.10527	GAG	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.517	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	G			60109946	+1	no_errors	NM_004829	genbank	human	validated	54_36p	missense	SNP	0.013	C
FAM96A	84191	genome.wustl.edu	37	15	64365168	64365168	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr15:64365168G>C	ENST00000300030.3	-	5	694	c.445C>G	c.(445-447)Cgg>Ggg	p.R149G	FAM96A_ENST00000380290.3_3'UTR|FAM96A_ENST00000558779.1_5'UTR	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	149					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						ACAATTTCCCGTAAGTTGGGG	0.388																																																0			15											163.0	138.0	146.0					15																	64365168		2203	4300	6503	62152221	SO:0001583	missense	84191				CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.445C>G	15.37:g.64365168G>C	ENSP00000300030:p.Arg149Gly		62152221	A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	HMMPfam_DUF59	p.R149G	ENST00000300030.3	37	c.445	CCDS10189.1	15	.	.	.	.	.	.	.	.	.	.	G	14.47	2.544897	0.45280	.	.	ENSG00000166797	ENST00000300030	.	.	.	5.55	4.62	0.57501	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.72118	2.19	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.76645	-0.2883	9	0.44086	T	0.13	-15.3486	13.5002	0.61449	0.0:0.0:0.8424:0.1576	.	149	Q9H5X1	FA96A_HUMAN	G	149	.	ENSP00000300030:R149G	R	-	1	2	FAM96A	62152221	1.000000	0.71417	0.973000	0.42090	0.982000	0.71751	5.835000	0.69368	1.318000	0.45170	-0.181000	0.13052	CGG	-	NULL		0.388	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM96A	protein_coding	OTTHUMT00000256520.1	G	NM_032231		62152221	-1	no_errors	NM_032231	genbank	human	validated	54_36p	missense	SNP	1.000	C
CPT1A	1374	genome.wustl.edu	37	11	68566799	68566799	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:68566799T>A	ENST00000265641.5	-	6	734	c.580A>T	c.(580-582)Atg>Ttg	p.M194L	CPT1A_ENST00000538994.1_5'Flank|CPT1A_ENST00000539743.1_Missense_Mutation_p.M194L|CPT1A_ENST00000540367.1_Missense_Mutation_p.M194L|CPT1A_ENST00000376618.2_Missense_Mutation_p.M194L	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	194					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	TCTTCCTTCATAAGAGGCCTC	0.408																																																0			11											87.0	85.0	86.0					11																	68566799		2200	4294	6494	68323375	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.580A>T	11.37:g.68566799T>A	ENSP00000265641:p.Met194Leu		68323375	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf,PatternScan_ACYLTRANSF_C_1,PatternScan_ACYLTRANSF_C_2	p.M194L	ENST00000265641.5	37	c.580	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	t	3.346	-0.133640	0.06711	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	4.66	3.44	0.39384	.	0.040073	0.85682	D	0.000000	T	0.63307	0.2500	N	0.01289	-0.905	0.49687	D	0.999813	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.15870	0.002;0.014;0.005	T	0.63817	-0.6551	10	0.02654	T	1	.	12.5062	0.55981	0.0:0.0:0.1494:0.8506	.	194;194;194	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	L	194	ENSP00000439084:M194L;ENSP00000365803:M194L;ENSP00000265641:M194L;ENSP00000446108:M194L	ENSP00000265641:M194L	M	-	1	0	CPT1A	68323375	1.000000	0.71417	0.870000	0.34147	0.939000	0.58152	5.918000	0.69996	1.742000	0.51746	0.379000	0.24179	ATG	-	superfamily_CoA-dependent acyltransferases,HMMPfam_Carn_acyltransf		0.408	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	protein_coding	OTTHUMT00000397457.2	T	NM_001876		68323375	-1	no_errors	NM_001876	genbank	human	reviewed	54_36p	missense	SNP	0.964	A
CLEC18C	283971	genome.wustl.edu	37	16	70208295	70208295	+	Silent	SNP	G	G	A	rs201003806	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:70208295G>A	ENST00000569347.2	+	1	368	c.114G>A	c.(112-114)ccG>ccA	p.P38P	CLEC18C_ENST00000561612.1_3'UTR|CLEC18C_ENST00000314151.8_Silent_p.P38P|RP11-296I10.3_ENST00000502126.1_RNA|CLEC18C_ENST00000541793.2_Silent_p.P38P|RP11-296I10.3_ENST00000566989.1_RNA|CLEC18C_ENST00000536907.2_Silent_p.P38P	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	38						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						AGCAGGCTCCGATGGCCGGAG	0.662																																																0			16											1.0	1.0	1.0					16																	70208295		223	742	965	68765796	SO:0001819	synonymous_variant	283971			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.114G>A	16.37:g.70208295G>A			68765796	Q8IUW8	Silent	SNP	superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,HMMSmart_SM00181,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00034,superfamily_C-type lectin-like,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1	p.P38	ENST00000569347.2	37	c.114	CCDS32473.1	16																																																																																			-	superfamily_PR-1-like		0.662	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	protein_coding	OTTHUMT00000434588.2	G	NM_173619		68765796	+1	no_errors	NM_173619	genbank	human	validated	54_36p	silent	SNP	0.000	A
AAK1	22848	genome.wustl.edu	37	2	69741762	69741762	+	Silent	SNP	T	T	C	rs77547121		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:69741762T>C	ENST00000409085.4	-	13	1993	c.1617A>G	c.(1615-1617)caA>caG	p.Q539Q	RN7SL604P_ENST00000492589.2_RNA|AAK1_ENST00000409068.1_Silent_p.Q539Q|AAK1_ENST00000406297.3_Silent_p.Q539Q	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	539	Gln-rich.				endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						gctgttgttgttgctgctgct	0.542																																																0			2											32.0	34.0	34.0					2																	69741762		2195	4297	6492	69595266	SO:0001819	synonymous_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.1617A>G	2.37:g.69741762T>C			69595266	Q4ZFZ3|Q53RX6|Q9UPV4	Silent	SNP	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ST	p.Q539	ENST00000409085.4	37	c.1617	CCDS1893.2	2																																																																																			-	NULL		0.542	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	protein_coding	OTTHUMT00000251847.4	T	NM_014911		69595266	-1	no_errors	NM_014911	genbank	human	reviewed	54_36p	silent	SNP	0.998	C
IQGAP2	10788	genome.wustl.edu	37	5	75888744	75888744	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:75888744G>T	ENST00000274364.6	+	9	1198	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	301					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TATTAATAAAGTCAACAGTAA	0.353																																																0			5											146.0	155.0	152.0					5																	75888744		2203	4300	6503	75924500	SO:0001583	missense	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.901G>T	5.37:g.75888744G>T	ENSP00000274364:p.Val301Phe		75924500	A8K4V1|B7Z8A4|J3KR91	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_WW_DOMAIN_1,HMMSmart_SM00015,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases,superfamily_GTPase activation domain GAP,HMMSmart_SM00323,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,HMMPfam_RasGAP_C	p.V301F	ENST00000274364.6	37	c.901	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	G	22.1	4.241933	0.79912	.	.	ENSG00000145703	ENST00000274364;ENST00000514350;ENST00000505766	T;T;T	0.51574	4.08;0.7;4.1	5.83	4.78	0.61160	.	0.187562	0.47455	D	0.000238	T	0.64283	0.2584	M	0.83774	2.66	0.80722	D	1	P	0.48694	0.914	P	0.55222	0.771	T	0.65932	-0.6048	10	0.45353	T	0.12	-24.4611	13.5837	0.61917	0.1157:0.0:0.8843:0.0	.	301	Q13576	IQGA2_HUMAN	F	301;274;251	ENSP00000274364:V301F;ENSP00000423672:V274F;ENSP00000421097:V251F	ENSP00000274364:V301F	V	+	1	0	IQGAP2	75924500	1.000000	0.71417	0.966000	0.40874	0.892000	0.51952	5.122000	0.64697	2.781000	0.95711	0.650000	0.86243	GTC	-	NULL		0.353	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	protein_coding	OTTHUMT00000368877.1	G	NM_006633		75924500	+1	no_errors	NM_006633	genbank	human	validated	54_36p	missense	SNP	0.968	T
ACADM	34	genome.wustl.edu	37	1	76215160	76215160	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:76215160G>A	ENST00000370841.4	+	9	1202	c.765G>A	c.(763-765)gtG>gtA	p.V255V	ACADM_ENST00000541113.1_Silent_p.V219V|ACADM_ENST00000370834.5_Silent_p.V288V|ACADM_ENST00000420607.2_Silent_p.V259V|ACADM_ENST00000543667.1_Silent_p.V66V	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	255					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TCGAAGATGTGAAAGTGCCTA	0.348																																																0			1											134.0	146.0	142.0					1																	76215160		2203	4300	6503	75987748	SO:0001819	synonymous_variant	34			M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.765G>A	1.37:g.76215160G>A			75987748	Q5T4U4|Q9NYF1	Silent	SNP	superfamily_Acyl-CoA dehydrogenase NM domain-like,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_Acyl-CoA dehydrogenase C-terminal domain-like,PatternScan_ACYL_COA_DH_2	p.V255	ENST00000370841.4	37	c.765	CCDS668.1	1																																																																																			-	superfamily_Acyl-CoA dehydrogenase NM domain-like		0.348	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ACADM	protein_coding	OTTHUMT00000026967.1	G			75987748	+1	no_errors	NM_000016	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
PDE8B	8622	genome.wustl.edu	37	5	76624859	76624859	+	Silent	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:76624859G>C	ENST00000264917.5	+	4	672	c.627G>C	c.(625-627)gtG>gtC	p.V209V	PDE8B_ENST00000342343.4_Silent_p.V189V|PDE8B_ENST00000333194.4_Silent_p.V209V|PDE8B_ENST00000346042.3_Silent_p.V209V|PDE8B_ENST00000340978.3_Silent_p.V209V	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	209					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	AGCACACGGTGATCCTCGCAG	0.473																																																0			5											133.0	99.0	110.0					5																	76624859		2203	4300	6503	76660615	SO:0001819	synonymous_variant	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.627G>C	5.37:g.76624859G>C			76660615	Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Silent	SNP	HMMPfam_PDE8,HMMPfam_Response_reg,HMMSmart_SM00091,HMMPfam_PAS,superfamily_PYP-like sensor domain (PAS domain),superfamily_HD-domain/PDEase-like,HMMSmart_SM00471,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.V209	ENST00000264917.5	37	c.627	CCDS4037.1	5																																																																																			-	HMMPfam_Response_reg		0.473	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	protein_coding	OTTHUMT00000220015.3	G	NM_003719		76660615	+1	no_errors	NM_003719	genbank	human	validated	54_36p	silent	SNP	1.000	C
ART3	419	genome.wustl.edu	37	4	77003491	77003491	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:77003491A>G	ENST00000355810.4	+	3	703	c.584A>G	c.(583-585)aAt>aGt	p.N195S	ART3_ENST00000341029.5_Missense_Mutation_p.N195S|ART3_ENST00000349321.3_Missense_Mutation_p.N195S|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	195					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAGGCTGCTAATGACCAGCTC	0.398																																																0			4											47.0	44.0	45.0					4																	77003491		2203	4300	6503	77222515	SO:0001583	missense	419			X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.584A>G	4.37:g.77003491A>G	ENSP00000348064:p.Asn195Ser		77222515	Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	superfamily_SSF56399,HMMPfam_ART,PatternScan_ART	p.N195S	ENST00000355810.4	37	c.584	CCDS47079.1	4	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.231340	0.01505	.	.	ENSG00000156219	ENST00000341029;ENST00000513122;ENST00000355810;ENST00000349321	T;T;T;T	0.08102	3.13;3.13;3.13;3.13	6.04	-3.1	0.05315	.	1.165300	0.06223	N	0.687226	T	0.06280	0.0162	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B;B	0.22746	0.013;0.013;0.074;0.001;0.0;0.001	B;B;B;B;B;B	0.24006	0.013;0.012;0.05;0.006;0.003;0.001	T	0.45293	-0.9271	9	.	.	.	0.2606	4.3989	0.11376	0.1996:0.5236:0.1683:0.1086	.	165;195;195;195;195;195	D6RBN3;E7ESB3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;.;NAR3_HUMAN;.;.	S	195	ENSP00000343843:N195S;ENSP00000422287:N195S;ENSP00000348064:N195S;ENSP00000304313:N195S	.	N	+	2	0	ART3	77222515	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.644000	0.05415	-0.111000	0.12001	0.460000	0.39030	AAT	-	superfamily_SSF56399,HMMPfam_ART		0.398	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ART3	protein_coding	OTTHUMT00000252416.2	A	NM_001179		77222515	+1	no_errors	NM_001179	genbank	human	validated	54_36p	missense	SNP	0.000	G
EDIL3	10085	genome.wustl.edu	37	5	83360621	83360621	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:83360621A>T	ENST00000296591.5	-	8	1268	c.850T>A	c.(850-852)Tct>Act	p.S284T	EDIL3_ENST00000380138.3_Missense_Mutation_p.S274T|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	284	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGTGTGAAAGAGTTAGCATAT	0.378																																																0			5											142.0	140.0	141.0					5																	83360621		2203	4300	6503	83396377	SO:0001583	missense	10085			U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.850T>A	5.37:g.83360621A>T	ENSP00000296591:p.Ser284Thr		83396377	B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,PatternScan_EGF_1,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2	p.S284T	ENST00000296591.5	37	c.850	CCDS4062.1	5	.	.	.	.	.	.	.	.	.	.	A	18.06	3.540396	0.65085	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98060	-4.69;-4.69	5.51	5.51	0.81932	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.95840	0.8646	N	0.14661	0.345	0.80722	D	1	B;D;P	0.57257	0.038;0.979;0.89	B;P;P	0.56563	0.143;0.801;0.636	D	0.94476	0.7689	10	0.14656	T	0.56	-21.7252	15.9157	0.79517	1.0:0.0:0.0:0.0	.	61;274;284	B7Z865;O43854-2;O43854	.;.;EDIL3_HUMAN	T	284;274	ENSP00000296591:S284T;ENSP00000369483:S274T	ENSP00000296591:S284T	S	-	1	0	EDIL3	83396377	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.880000	0.92407	2.218000	0.71995	0.377000	0.23210	TCT	-	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C		0.378	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EDIL3	protein_coding	OTTHUMT00000239258.1	A	NM_005711		83396377	-1	no_errors	NM_005711	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
FANCA	2175	genome.wustl.edu	37	16	89813265	89813265	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr16:89813265G>T	ENST00000389301.3	-	34	3412	c.3382C>A	c.(3382-3384)Cag>Aag	p.Q1128K	FANCA_ENST00000568369.1_Missense_Mutation_p.Q1128K	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1128			Q -> E (in FA). {ECO:0000269|PubMed:9371798}.		DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GTGATGTCCTGTGTCAGGGCA	0.567			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0			16	GRCh37	CM970498	FANCA	M							66.0	49.0	55.0					16																	89813265		2197	4292	6489	88340766	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.3382C>A	16.37:g.89813265G>T	ENSP00000373952:p.Gln1128Lys		88340766	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	HMMPfam_Fanconi_A	p.Q1128K	ENST00000389301.3	37	c.3382	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	G	10.35	1.325187	0.24080	.	.	ENSG00000187741	ENST00000389301;ENST00000305699	D	0.83755	-1.76	5.09	4.12	0.48240	.	0.548010	0.17604	N	0.168324	T	0.68705	0.3030	N	0.22421	0.69	0.35262	D	0.779653	B;B;B	0.23185	0.081;0.006;0.002	B;B;B	0.18263	0.021;0.004;0.004	T	0.66881	-0.5811	10	0.29301	T	0.29	-9.2894	6.5132	0.22234	0.2986:0.0:0.7014:0.0	.	105;1128;1128	B7Z6Y4;B4DRI7;O15360	.;.;FANCA_HUMAN	K	1128;105	ENSP00000373952:Q1128K	ENSP00000306281:Q105K	Q	-	1	0	FANCA	88340766	0.980000	0.34600	0.134000	0.22075	0.426000	0.31534	1.602000	0.36783	1.250000	0.43966	0.561000	0.74099	CAG	-	NULL		0.567	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	protein_coding	OTTHUMT00000421927.1	G			88340766	-1	no_errors	NM_000135	genbank	human	reviewed	54_36p	missense	SNP	0.901	T
EPHA3	2042	genome.wustl.edu	37	3	89390162	89390162	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:89390162G>C	ENST00000336596.2	+	4	1136	c.911G>C	c.(910-912)tGc>tCc	p.C304S	EPHA3_ENST00000452448.2_Missense_Mutation_p.C304S|EPHA3_ENST00000494014.1_Missense_Mutation_p.C304S	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	304	Cys-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAATGAACTGCAGGTGTGAG	0.473										TSP Lung(6;0.00050)																																						0			3											169.0	164.0	166.0					3																	89390162		2203	4300	6503	89472852	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.911G>C	3.37:g.89390162G>C	ENSP00000337451:p.Cys304Ser		89472852	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Ephrin_lbd,HMMSmart_SM00615,PatternScan_RECEPTOR_TYR_KIN_V_1,PatternScan_RECEPTOR_TYR_KIN_V_2,PatternScan_EGF_2,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain	p.C304S	ENST00000336596.2	37	c.911	CCDS2922.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.377471	0.82682	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	D;D;D	0.99488	-6.0;-6.0;-6.0	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	H	0.94886	3.595	0.80722	D	1	D;D	0.69078	0.987;0.997	D;D	0.83275	0.985;0.996	D	0.97862	1.0281	9	.	.	.	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	304;304	P29320;P29320-2	EPHA3_HUMAN;.	S	304	ENSP00000337451:C304S;ENSP00000399926:C304S;ENSP00000419190:C304S	.	C	+	2	0	EPHA3	89472852	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	TGC	-	NULL		0.473	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA3	protein_coding	OTTHUMT00000352995.1	G	NM_005233		89472852	+1	no_errors	NM_005233	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
STEAP1	26872	genome.wustl.edu	37	7	89791230	89791230	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:89791230C>T	ENST00000297205.2	+	4	800	c.600C>T	c.(598-600)gtC>gtT	p.V200V	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	200	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGGTAGGTCCAACAAAATA	0.408																																																0			7											26.0	28.0	27.0					7																	89791230		2200	4278	6478	89629166	SO:0001819	synonymous_variant	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.600C>T	7.37:g.89791230C>T			89629166	A4D1E0|O95034	Silent	SNP	HMMPfam_Ferric_reduct	p.V200	ENST00000297205.2	37	c.600	CCDS5614.1	7																																																																																			-	HMMPfam_Ferric_reduct		0.408	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	protein_coding	OTTHUMT00000059327.3	C	NM_012449		89629166	+1	no_errors	NM_012449	genbank	human	reviewed	54_36p	silent	SNP	0.987	T
CALCR	799	genome.wustl.edu	37	7	93063563	93063563	+	Splice_Site	SNP	A	A	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:93063563A>C	ENST00000394441.1	-	12	1507		c.e12+1		CALCR_ENST00000360249.4_Splice_Site|CALCR_ENST00000359558.2_Splice_Site|CALCR_ENST00000426151.1_Splice_Site|CALCR_ENST00000421592.1_Splice_Site	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	ATGCATGCTTACCTCATTGTT	0.353																																																0			7											117.0	122.0	120.0					7																	93063563		2203	4300	6503	92901499	SO:0001630	splice_region_variant	799			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1191+1T>G	7.37:g.93063563A>C			92901499	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Splice_Site	SNP	-	e11+2	ENST00000394441.1	37	c.1191+2	CCDS5631.1	7	.	.	.	.	.	.	.	.	.	.	A	12.61	1.989455	0.35131	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	.	.	.	3.89	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9813	0.35966	0.8346:0.0:0.0:0.1654	.	.	.	.	.	-1	.	.	.	-	.	.	CALCR	92901499	1.000000	0.71417	0.757000	0.31301	0.421000	0.31385	8.582000	0.90791	0.824000	0.34613	0.454000	0.30748	.	-	-		0.353	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	protein_coding	OTTHUMT00000254661.2	A	NM_001742	Intron	92901499	-1	no_errors	NM_001742	genbank	human	validated	54_36p	splice_site	SNP	1.000	C
RUNX1T1	862	genome.wustl.edu	37	8	93026879	93026879	+	Silent	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:93026879G>T	ENST00000523629.1	-	4	850	c.396C>A	c.(394-396)acC>acA	p.T132T	RUNX1T1_ENST00000520724.1_Silent_p.T95T|RUNX1T1_ENST00000518844.1_Silent_p.T105T|RUNX1T1_ENST00000521553.1_Silent_p.T95T|RUNX1T1_ENST00000422361.2_Silent_p.T95T|RUNX1T1_ENST00000396218.1_Silent_p.T105T|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000360348.2_Silent_p.T95T|RUNX1T1_ENST00000265814.3_Silent_p.T132T|RUNX1T1_ENST00000436581.2_Silent_p.T143T	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	132	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|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(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTGCTGCAGGGTAGTAAGGA	0.517																																																0			8											101.0	97.0	98.0					8																	93026879		2203	4300	6503	93096055	SO:0001819	synonymous_variant	862			D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.396C>A	8.37:g.93026879G>T			93096055	B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	HMMPfam_TAFH,HMMSmart_SM00549,HMMPfam_NHR2,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.T132	ENST00000523629.1	37	c.396	CCDS6256.1	8																																																																																			-	HMMPfam_TAFH,HMMSmart_SM00549		0.517	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RUNX1T1	protein_coding	OTTHUMT00000377045.3	G	NM_004349, NM_175635		93096055	-1	no_errors	NM_175634	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
ASTL	431705	genome.wustl.edu	37	2	96789973	96789973	+	Silent	SNP	C	C	T	rs183967306	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:96789973C>T	ENST00000342380.2	-	9	911	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_001002036.3	NP_001002036.3			astacin-like metallo-endopeptidase (M12 family)											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ATAGGGAGGCCGGAGCGGGGC	0.632													C|||	12	0.00239617	0.0	0.0058	5008	,	,		17350	0.0		0.008	False		,,,				2504	0.0															0			2						C		3,4333		0,3,2165	11.0	14.0	13.0		912	-8.6	0.0	2		13	55,8407		0,55,4176	no	coding-synonymous	ASTL	NM_001002036.3		0,58,6341	TT,TC,CC		0.65,0.0692,0.4532		304/432	96789973	58,12740	2168	4231	6399	96153700	SO:0001819	synonymous_variant	431705			AJ537600	CCDS33249.1	2q11.1	2014-07-23	2006-10-10		ENSG00000188886	ENSG00000188886	3.4.24.21		31704	protein-coding gene	gene with protein product	"""sperm acrosomal SLLP1 binding"""	608860	"""astacin-like metalloendopeptidase (M12 family)"""			15087446	Standard	NM_001002036		Approved	ovastacin, SAS1B	uc010yui.2	Q6HA08	OTTHUMG00000155212	ENST00000342380.2:c.912G>A	2.37:g.96789973C>T			96153700		Silent	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin"	p.P304	ENST00000342380.2	37	c.912	CCDS33249.1	2																																																																																			-	NULL		0.632	ASTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASTL	protein_coding	OTTHUMT00000338801.1	C			96153700	-1	no_errors	NM_001002036	genbank	human	validated	54_36p	silent	SNP	0.286	T
PIK3AP1	118788	genome.wustl.edu	37	10	98383242	98383242	+	Silent	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:98383242C>T	ENST00000339364.5	-	11	1841	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	PIK3AP1_ENST00000371109.3_Silent_p.E173E|PIK3AP1_ENST00000371110.2_Silent_p.E396E	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	574					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTGATGCTCTCTGAGGAAA	0.373																																																0			10											223.0	231.0	229.0					10																	98383242		2203	4300	6503	98373232	SO:0001819	synonymous_variant	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1722G>A	10.37:g.98383242C>T			98373232	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	superfamily_Ankyrin repeat	p.E574	ENST00000339364.5	37	c.1722	CCDS31259.1	10																																																																																			-	NULL		0.373	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98373232	-1	no_errors	NM_152309	genbank	human	validated	54_36p	silent	SNP	0.586	T
RRP12	23223	genome.wustl.edu	37	10	99145734	99145734	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:99145734G>C	ENST00000370992.4	-	9	1145	c.1034C>G	c.(1033-1035)gCc>gGc	p.A345G	RRP12_ENST00000414986.1_Missense_Mutation_p.A284G|RRP12_ENST00000536831.1_Missense_Mutation_p.A63G|RRP12_ENST00000315563.6_Missense_Mutation_p.A245G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	345						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGCCTGCATGGCACAGGCTGT	0.622																																																0			10											49.0	32.0	38.0					10																	99145734		2199	4300	6499	99135724	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.1034C>G	10.37:g.99145734G>C	ENSP00000360031:p.Ala345Gly		99135724	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_NUC173	p.A345G	ENST00000370992.4	37	c.1034	CCDS7457.1	10	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934885	0.73442	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.26	5.26	5.26	0.73747	Armadillo-like helical (1);Armadillo-type fold (1);	0.047082	0.85682	D	0.000000	D	0.83022	0.5164	L	0.61036	1.89	0.80722	D	1	D;P;P;P	0.69078	0.997;0.707;0.775;0.92	P;P;B;P	0.61397	0.888;0.52;0.429;0.505	T	0.81482	-0.0913	10	0.34782	T	0.22	-22.8973	18.8608	0.92271	0.0:0.0:1.0:0.0	.	284;245;63;345	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	G	345;245;284;63	ENSP00000360031:A345G;ENSP00000324315:A245G;ENSP00000414863:A284G;ENSP00000446184:A63G	ENSP00000324315:A245G	A	-	2	0	RRP12	99135724	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.680000	0.84062	2.460000	0.83146	0.563000	0.77884	GCC	-	superfamily_ARM repeat		0.622	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	protein_coding	OTTHUMT00000049699.4	G	NM_015179		99135724	-1	no_errors	NM_015179	genbank	human	validated	54_36p	missense	SNP	1.000	C
OR5H1	26341	genome.wustl.edu	37	3	97852217	97852217	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:97852217T>A	ENST00000354565.2	+	1	676	c.676T>A	c.(676-678)Tta>Ata	p.L226I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	226						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTCGCAATCTTAAAAAAGAA	0.338																																																0			3											73.0	81.0	78.0					3																	97852217		2202	4299	6501	99334907	SO:0001583	missense	26341			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.676T>A	3.37:g.97852217T>A	ENSP00000346575:p.Leu226Ile		99334907		Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L226I	ENST00000354565.2	37	c.676	CCDS33797.1	3	.	.	.	.	.	.	.	.	.	.	T	8.934	0.964116	0.18583	.	.	ENSG00000231192	ENST00000354565	T	0.00302	8.2	3.57	-0.446	0.12238	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36444	N	0.002587	T	0.00496	0.0016	M	0.78049	2.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46775	-0.9167	10	0.56958	D	0.05	.	6.6607	0.23012	0.0:0.5285:0.0:0.4715	.	226	A6NKK0	OR5H1_HUMAN	I	226	ENSP00000346575:L226I	ENSP00000346575:L226I	L	+	1	2	OR5H1	99334907	0.000000	0.05858	0.012000	0.15200	0.004000	0.04260	-0.792000	0.04594	0.012000	0.14892	0.164000	0.16699	TTA	-	superfamily_SSF81321,HMMPfam_7tm_1		0.338	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	protein_coding	OTTHUMT00000359100.2	T	NM_001005338		99334907	+1	no_errors	NM_001005338	genbank	human	provisional	54_36p	missense	SNP	0.007	A
DNMBP	23268	genome.wustl.edu	37	10	101715848	101715848	+	Silent	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:101715848G>A	ENST00000324109.4	-	4	1474	c.1383C>T	c.(1381-1383)ccC>ccT	p.P461P	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Silent_p.P461P	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	461					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACATTCTTTTGGGAGGTAGGC	0.493																																																0			10											98.0	108.0	104.0					10																	101715848		2203	4300	6503	101705838	SO:0001819	synonymous_variant	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.1383C>T	10.37:g.101715848G>A			101705838	Q8IVY3|Q9Y2L3	Silent	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,HMMSmart_SM00721,HMMPfam_BAR	p.P461	ENST00000324109.4	37	c.1383	CCDS7485.1	10																																																																																			-	NULL		0.493	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101705838	-1	no_errors	NM_015221	genbank	human	validated	54_36p	silent	SNP	0.770	A
GRIA4	2893	genome.wustl.edu	37	11	105789473	105789473	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:105789473A>T	ENST00000530497.1	+	10	1305	c.1305A>T	c.(1303-1305)gaA>gaT	p.E435D	GRIA4_ENST00000393127.2_Missense_Mutation_p.E435D|GRIA4_ENST00000282499.5_Missense_Mutation_p.E435D|GRIA4_ENST00000525187.1_Missense_Mutation_p.E435D			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	435					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAAATCATGAAATGTTTGAAG	0.308																																																0			11											52.0	51.0	51.0					11																	105789473		2202	4299	6501	105294683	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1305A>T	11.37:g.105789473A>T	ENSP00000435775:p.Glu435Asp		105294683	Q86XE8	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.E435D	ENST00000530497.1	37	c.1305	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	A	13.02	2.112046	0.37242	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.68	4.56	0.56223	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.075439	0.56097	D	0.000027	T	0.61937	0.2387	N	0.26042	0.785	0.46044	D	0.998831	B;B	0.09022	0.001;0.002	B;B	0.15052	0.008;0.012	T	0.55915	-0.8065	10	0.39692	T	0.17	.	4.9603	0.14063	0.708:0.0:0.1473:0.1446	.	435;435	P48058;G3V164	GRIA4_HUMAN;.	D	435	ENSP00000282499:E435D;ENSP00000376835:E435D;ENSP00000435775:E435D;ENSP00000432180:E435D	ENSP00000282499:E435D	E	+	3	2	GRIA4	105294683	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.828000	0.39111	1.097000	0.41459	0.528000	0.53228	GAA	-	HMMSmart_PBPe,superfamily_SSF53850,HMMPfam_Lig_chan-Glu_bd		0.308	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	protein_coding	OTTHUMT00000388593.1	A			105294683	+1	no_errors	NM_000829	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
DCSTAMP	81501	genome.wustl.edu	37	8	105361312	105361312	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:105361312C>T	ENST00000297581.2	+	2	581	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.P178S|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	178					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											TCTTTTCAGTCCCAGCCATGT	0.502																																																0			8											94.0	91.0	92.0					8																	105361312		2203	4300	6503	105430488	SO:0001583	missense	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.532C>T	8.37:g.105361312C>T	ENSP00000297581:p.Pro178Ser		105430488	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	HMMPfam_DC_STAMP	p.P178S	ENST00000297581.2	37	c.532	CCDS6301.1	8	.	.	.	.	.	.	.	.	.	.	C	3.289	-0.145401	0.06627	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.28454	1.61	5.7	2.86	0.33363	.	0.803616	0.11860	N	0.522445	T	0.20577	0.0495	L	0.39898	1.24	0.27850	N	0.940785	B	0.12013	0.005	B	0.08055	0.003	T	0.23154	-1.0196	9	.	.	.	-15.1307	2.8319	0.05503	0.2315:0.4813:0.0:0.2872	.	178	Q9H295	TM7S4_HUMAN	S	178	ENSP00000297581:P178S	.	P	+	1	0	TM7SF4	105430488	1.000000	0.71417	0.909000	0.35828	0.371000	0.29859	1.766000	0.38491	0.725000	0.32318	0.561000	0.74099	CCC	-	NULL		0.502	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM7SF4	protein_coding	OTTHUMT00000380810.1	C	NM_030788		105430488	+1	no_errors	NM_030788	genbank	human	reviewed	54_36p	missense	SNP	0.392	T
Unknown	0	genome.wustl.edu	37	11	107047651	107047651	+	IGR	SNP	G	G	A	rs529018707		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:107047651G>A								GUCY1A2 (158401 upstream) : RP11-819C21.1 (135206 downstream)																							CCCAGGACCCGGCCAAAACCC	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14524	0.0		0.0	False		,,,				2504	0.0															0			11																																								106552861	SO:0001628	intergenic_variant	341230																															11.37:g.107047651G>A			106552861		RNA	SNP	-	NULL		37	NULL		11																																																																																			-	-	0	0.572					LOC341230			G			106552861	+1	pseudogene	XR_016383	genbank	human	model	54_36p	rna	SNP	0.968	A
SH3RF3	344558	genome.wustl.edu	37	2	109960604	109960604	+	Intron	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:109960604C>T	ENST00000309415.6	+	2	573					NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3								zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGACCTGCTACGCAGGGAGAA	0.517																																																0			2																																								109327036	SO:0001627	intron_variant	729164			AK074131	CCDS74557.1	2q13	2013-01-11	2008-05-14	2008-05-14	ENSG00000172985	ENSG00000172985		"""RING-type (C3HC4) zinc fingers"""	24699	protein-coding gene	gene with protein product			"""SH3 multiple domains 4"""	SH3MD4		16374509	Standard	XM_006712493		Approved	FLJ00204, POSH2	uc010ywt.1	Q8TEJ3	OTTHUMG00000153439	ENST00000309415.6:c.574-3526C>T	2.37:g.109960604C>T			109327036	A0SDZ7|A8MPR1|Q8NDU1	RNA	SNP	-	NULL	ENST00000309415.6	37	NULL		2																																																																																			-	-		0.517	SH3RF3-201	KNOWN	basic|appris_principal	protein_coding	LOC729164	protein_coding		C	NM_001099289		109327036	-1	no_errors	XR_041020	genbank	human	model	54_36p	rna	SNP	0.000	T
CSMD3	114788	genome.wustl.edu	37	8	113563062	113563062	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr8:113563062T>C	ENST00000297405.5	-	27	4646	c.4402A>G	c.(4402-4404)Ata>Gta	p.I1468V	CSMD3_ENST00000455883.2_Missense_Mutation_p.I1364V|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1468V|CSMD3_ENST00000343508.3_Missense_Mutation_p.I1428V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1468	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTCGGAGTATATCATGTGAT	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						0			8											71.0	68.0	69.0					8																	113563062		2203	4300	6503	113632238	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4402A>G	8.37:g.113563062T>C	ENSP00000297405:p.Ile1468Val		113632238	Q96PZ3	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10	p.I1468V	ENST00000297405.5	37	c.4402	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	T	8.860	0.946814	0.18356	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	4.36	4.36	0.52297	CUB (5);	0.066132	0.56097	D	0.000022	T	0.37461	0.1004	N	0.04260	-0.245	0.28357	N	0.920649	B;B;B	0.28128	0.167;0.201;0.095	B;B;B	0.36092	0.138;0.217;0.061	T	0.28267	-1.0049	10	0.15066	T	0.55	.	13.985	0.64328	0.0:0.0:0.0:1.0	.	1364;1468;1428	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1428;1468;808;1364;1468	ENSP00000345799:I1428V;ENSP00000297405:I1468V;ENSP00000341558:I808V;ENSP00000412263:I1364V;ENSP00000343124:I1468V	ENSP00000297405:I1468V	I	-	1	0	CSMD3	113632238	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.982000	0.70532	1.952000	0.56665	0.482000	0.46254	ATA	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.363	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	T	NM_052900		113632238	-1	no_errors	NM_198123	genbank	human	validated	54_36p	missense	SNP	1.000	C
FOXP2	93986	genome.wustl.edu	37	7	114298295	114298295	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr7:114298295G>T	ENST00000393494.2	+	11	1720	c.1441G>T	c.(1441-1443)Gac>Tac	p.D481Y	FOXP2_ENST00000393491.3_Intron|FOXP2_ENST00000393489.3_Missense_Mutation_p.D389Y|FOXP2_ENST00000350908.4_Missense_Mutation_p.D481Y|FOXP2_ENST00000403559.4_Missense_Mutation_p.D498Y|FOXP2_ENST00000393498.2_Missense_Mutation_p.D460Y|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000408937.3_Missense_Mutation_p.D506Y			O15409	FOXP2_HUMAN	forkhead box P2	481					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCGACATTCAGACAAATACAA	0.493																																																0			7											111.0	92.0	99.0					7																	114298295		2203	4300	6503	114085531	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1441G>T	7.37:g.114298295G>T	ENSP00000377132:p.Asp481Tyr		114085531	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_FH,superfamily_SSF46785,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2	p.D506Y	ENST00000393494.2	37	c.1516	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077376	0.36662	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489	D;D;D;D;D	0.91464	-2.75;-2.74;-2.72;-2.75;-2.85	5.71	5.71	0.89125	.	0.083328	0.85682	D	0.000000	D	0.94978	0.8375	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.61697	0.984;0.984;0.984;0.99	P;P;P;D	0.63192	0.75;0.75;0.75;0.912	D	0.94825	0.7990	10	0.87932	D	0	.	20.2245	0.98337	0.0:0.0:1.0:0.0	.	480;498;481;506	B7ZLK5;B4DLD9;O15409;O15409-4	.;.;FOXP2_HUMAN;.	Y	481;506;498;481;458;389	ENSP00000377132:D481Y;ENSP00000386200:D506Y;ENSP00000385069:D498Y;ENSP00000265436:D481Y;ENSP00000377129:D389Y	ENSP00000265436:D481Y	D	+	1	0	FOXP2	114085531	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.597000	0.82733	2.861000	0.98227	0.650000	0.86243	GAC	-	NULL		0.493	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	protein_coding	OTTHUMT00000317366.1	G	NM_014491		114085531	+1	no_errors	NM_148898	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ZNF80	7634	genome.wustl.edu	37	3	113955433	113955433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr3:113955433G>T	ENST00000482457.2	-	1	992	c.489C>A	c.(487-489)tgC>tgA	p.C163*	RP11-553L6.2_ENST00000481773.1_RNA|RP11-553L6.2_ENST00000493033.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	163					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)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CACATTCTTTGCACCCAAAGA	0.483																																					GBM(23;986 1114 21716)											0			3											101.0	105.0	103.0					3																	113955433		2203	4300	6503	115438123	SO:0001587	stop_gained	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.489C>A	3.37:g.113955433G>T	ENSP00000417192:p.Cys163*		115438123	Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C163*	ENST00000482457.2	37	c.489	CCDS2979.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.207396	0.97376	.	.	ENSG00000174255	ENST00000482457	.	.	.	3.09	-1.27	0.09347	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.7239	0.02918	0.2085:0.1584:0.4714:0.1616	.	.	.	.	X	163	.	ENSP00000309812:C163X	C	-	3	2	ZNF80	115438123	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-0.545000	0.06069	-0.297000	0.08934	0.561000	0.74099	TGC	-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.483	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF80	protein_coding	OTTHUMT00000354696.2	G	NM_007136		115438123	-1	no_errors	NM_007136	genbank	human	validated	54_36p	nonsense	SNP	0.057	T
AMBP	259	genome.wustl.edu	37	9	116838967	116838967	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr9:116838967C>A	ENST00000265132.3	-	2	433	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	57				Missing (in Ref. 10; AA sequence and 12; AA sequence). {ECO:0000305}.|Missing (in Ref. 11; AA sequence). {ECO:0000305}.	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)	CCATGATCTTCTTCAGCCAGG	0.587																																																0			9											132.0	99.0	110.0					9																	116838967		2203	4300	6503	115878788	SO:0001583	missense	259			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.171G>T	9.37:g.116838967C>A	ENSP00000265132:p.Lys57Asn		115878788	P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Missense_Mutation	SNP	superfamily_Calycin,PatternScan_LIPOCALIN,HMMPfam_Lipocalin,superfamily_Prot_inh_Kunz-m,HMMSmart_KU,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.K57N	ENST00000265132.3	37	c.171	CCDS6800.1	9	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738018	0.49045	.	.	ENSG00000106927	ENST00000265132	T	0.07908	3.15	3.86	1.75	0.24633	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.314299	0.32970	N	0.005437	T	0.16599	0.0399	M	0.78637	2.42	0.26906	N	0.967001	D	0.58268	0.982	P	0.55055	0.767	T	0.03910	-1.0993	10	0.46703	T	0.11	.	4.1619	0.10287	0.0:0.6149:0.2436:0.1415	.	57	P02760	AMBP_HUMAN	N	57	ENSP00000265132:K57N	ENSP00000265132:K57N	K	-	3	2	AMBP	115878788	0.982000	0.34865	0.419000	0.26584	0.722000	0.41435	2.157000	0.42320	0.809000	0.34255	0.561000	0.74099	AAG	-	superfamily_Calycin,HMMPfam_Lipocalin		0.587	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMBP	protein_coding	OTTHUMT00000053758.2	C	NM_001633		115878788	-1	no_errors	NM_001633	genbank	human	reviewed	54_36p	missense	SNP	0.331	A
CEP164	22897	genome.wustl.edu	37	11	117251328	117251328	+	Splice_Site	SNP	A	A	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr11:117251328A>G	ENST00000278935.3	+	12	1464		c.e12-1		CEP164_ENST00000533706.1_Splice_Site	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa						cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCTCTCCTACAGGCCCAGCAA	0.517																																																0			11											62.0	52.0	55.0					11																	117251328		2199	4295	6494	116756538	SO:0001630	splice_region_variant	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1318-1A>G	11.37:g.117251328A>G			116756538	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Splice_Site	SNP	-	e10-2	ENST00000278935.3	37	c.1318-2	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	A	9.503	1.103791	0.20632	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1097	0.48226	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP164	116756538	1.000000	0.71417	0.987000	0.45799	0.026000	0.11368	4.278000	0.58946	2.114000	0.64651	0.533000	0.62120	.	-	-		0.517	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	protein_coding	OTTHUMT00000392893.1	A	NM_014956	Intron	116756538	+1	no_errors	NM_014956	genbank	human	validated	54_36p	splice_site	SNP	0.933	G
GRK5	2869	genome.wustl.edu	37	10	121201575	121201575	+	Silent	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:121201575C>G	ENST00000392870.2	+	11	1361	c.1032C>G	c.(1030-1032)ggC>ggG	p.G344G	GRK5_ENST00000369108.3_Silent_p.G239G	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	344	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGATCCGCGGCCGGGTGGGCA	0.657																																																0			10											83.0	77.0	79.0					10																	121201575		2203	4300	6503	121191565	SO:0001819	synonymous_variant	2869			L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.1032C>G	10.37:g.121201575C>G			121191565	D3DRD0|Q5T059	Silent	SNP	PatternScan_PROTEIN_KINASE_ST,superfamily_Regulat_G_prot_signal_superfam,HMMPfam_RGS,HMMSmart_RGS,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,HMMSmart_S_TK_X	p.G344	ENST00000392870.2	37	c.1032	CCDS7612.1	10																																																																																			-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.657	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRK5	protein_coding	OTTHUMT00000050652.2	C	NM_005308		121191565	+1	no_errors	NM_005308	genbank	human	reviewed	54_36p	silent	SNP	0.999	G
CCDC62	84660	genome.wustl.edu	37	12	123282748	123282748	+	Splice_Site	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:123282748G>A	ENST00000253079.6	+	8	1321		c.e8+1		CCDC62_ENST00000392441.4_Splice_Site|CCDC62_ENST00000537566.1_Splice_Site|CCDC62_ENST00000392440.2_Splice_Site	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62						cellular response to estradiol stimulus (GO:0071392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		TGGACTCCAGGTAATCTTAGC	0.378																																																0			12											52.0	52.0	52.0					12																	123282748		2203	4300	6503	121848701	SO:0001630	splice_region_variant	84660				CCDS9238.1	12q24.31	2009-08-18			ENSG00000130783	ENSG00000130783			30723	protein-coding gene	gene with protein product	"""cancer/testis antigen 109"""	613481				18563714, 19126643	Standard	NM_201435		Approved	TSP-NY, FLJ40344, CT109, ERAP75	uc001udc.3	Q6P9F0	OTTHUMG00000168764	ENST00000253079.6:c.977+1G>A	12.37:g.123282748G>A			121848701	A8K8V1|B3KUP3|Q6ZVF2|Q86VJ0|Q9BYZ5	Splice_Site	SNP	-	e8+1	ENST00000253079.6	37	c.977+1	CCDS9238.1	12	.	.	.	.	.	.	.	.	.	.	.	16.30	3.085549	0.55861	.	.	ENSG00000130783	ENST00000253079;ENST00000392441;ENST00000537566;ENST00000392440	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.485	0.61359	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC62	121848701	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	4.649000	0.61433	2.257000	0.74773	0.637000	0.83480	.	-	-		0.378	CCDC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC62	protein_coding	OTTHUMT00000400930.1	G	NM_032573	Intron	121848701	+1	no_errors	NM_201435	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
SETD8	387893	genome.wustl.edu	37	12	123879732	123879732	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:123879732C>T	ENST00000402868.3	+	4	854	c.428C>T	c.(427-429)tCa>tTa	p.S143L	SETD8_ENST00000478781.2_3'UTR|SETD8_ENST00000330479.4_Missense_Mutation_p.S143L			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	184					histone lysine methylation (GO:0034968)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		ACTCCACCCTCATCTTGTGAT	0.502																																																0			12											25.0	26.0	26.0					12																	123879732		2203	4296	6499	122445685	SO:0001583	missense	387893			AY102937	CCDS9247.1	12q24.31	2011-07-01			ENSG00000183955	ENSG00000183955		"""Chromatin-modifying enzymes / K-methyltransferases"""	29489	protein-coding gene	gene with protein product		607240				15933070, 12086618, 12121615	Standard	NM_020382		Approved	SET8, SET07, PR-Set7, KMT5A	uc001uew.3	Q9NQR1	OTTHUMG00000150477	ENST00000402868.3:c.428C>T	12.37:g.123879732C>T	ENSP00000384629:p.Ser143Leu		122445685	A8K9D0|Q86W83|Q8TD09	Missense_Mutation	SNP	superfamily_SSF82199,HMMPfam_SET,HMMSmart_SET	p.S143L	ENST00000402868.3	37	c.428	CCDS9247.1	12	.	.	.	.	.	.	.	.	.	.	C	9.638	1.138199	0.21123	.	.	ENSG00000183955	ENST00000402868;ENST00000330479;ENST00000437502	D;D	0.98221	-4.8;-4.8	5.7	1.29	0.21616	.	0.597931	0.17149	N	0.185148	D	0.92430	0.7597	N	0.12182	0.205	0.19775	N	0.999954	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	D	0.83855	0.0265	10	0.12766	T	0.61	0.0687	8.0138	0.30368	0.0:0.5387:0.0:0.4613	.	184;143	Q9NQR1;Q9NQR1-2	SETD8_HUMAN;.	L	143;143;134	ENSP00000384629:S143L;ENSP00000332995:S143L	ENSP00000332995:S143L	S	+	2	0	SETD8	122445685	0.911000	0.30947	0.790000	0.31976	0.924000	0.55760	0.762000	0.26503	0.354000	0.24105	0.561000	0.74099	TCA	-	NULL		0.502	SETD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD8	protein_coding	OTTHUMT00000318263.1	C	NM_020382		122445685	+1	no_errors	NM_020382	genbank	human	validated	54_36p	missense	SNP	0.249	T
PLEKHA1	59338	genome.wustl.edu	37	10	124166188	124166188	+	Splice_Site	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr10:124166188C>G	ENST00000368990.3	+	5	472	c.341C>G	c.(340-342)aCa>aGa	p.T114R	PLEKHA1_ENST00000368988.1_Splice_Site_p.T114R|PLEKHA1_ENST00000368989.2_Splice_Site_p.T114R|PLEKHA1_ENST00000494222.1_Intron|PLEKHA1_ENST00000433307.1_Splice_Site_p.T114R|PLEKHA1_ENST00000538022.1_Splice_Site_p.T114R	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	114					androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAAAAATTACAGTAAGTATA	0.343																																																0			10											97.0	99.0	98.0					10																	124166188		2203	4300	6503	124156178	SO:0001630	splice_region_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.342+1C>G	10.37:g.124166188C>G			124156178	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.T114R	ENST00000368990.3	37	c.341	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.205497	0.95033	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000392799;ENST00000433307	T;T;T;T;T;T	0.20200	3.17;2.91;2.91;2.09;3.17;3.17	6.17	6.17	0.99709	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.088035	0.85682	D	0.000000	T	0.51890	0.1701	M	0.78049	2.395	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.988	T	0.46233	-0.9206	10	0.62326	D	0.03	-22.9613	20.8794	0.99867	0.0:1.0:0.0:0.0	.	114;114	B3KQ55;Q9HB21	.;PKHA1_HUMAN	R	114	ENSP00000357986:T114R;ENSP00000357985:T114R;ENSP00000357984:T114R;ENSP00000438608:T114R;ENSP00000376547:T114R;ENSP00000394416:T114R	ENSP00000357984:T114R	T	+	2	0	PLEKHA1	124156178	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.325000	0.79124	2.941000	0.99782	0.655000	0.94253	ACA	-	superfamily_SSF50729,HMMSmart_PH		0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	protein_coding	OTTHUMT00000050783.1	C	NM_001001974	Missense_Mutation	124156178	+1	no_errors	NM_001001974	genbank	human	validated	54_36p	missense	SNP	1.000	G
GPR119	139760	genome.wustl.edu	37	X	129518824	129518824	+	Nonsense_Mutation	SNP	G	G	A	rs201745966		TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chrX:129518824G>A	ENST00000276218.2	-	1	687	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	200					insulin secretion (GO:0030073)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)|phosphatidylcholine binding (GO:0031210)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						TCCATCTTTCGAATCTGCTGG	0.542																																																0			X											95.0	77.0	83.0					X																	129518824		2203	4300	6503	129346505	SO:0001587	stop_gained	139760			AY288416	CCDS14625.1	Xq26.1	2014-01-30			ENSG00000147262	ENSG00000147262		"""GPCR / Class A : Orphans"""	19060	protein-coding gene	gene with protein product		300513				12044878, 14623098	Standard	NM_178471		Approved	hGPCR2, GPCR2	uc011muv.2	Q8TDV5	OTTHUMG00000022397	ENST00000276218.2:c.598C>T	X.37:g.129518824G>A	ENSP00000276218:p.Arg200*		129346505	Q495H7|Q4VBN3	Nonsense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.R200*	ENST00000276218.2	37	c.598	CCDS14625.1	X	.	.	.	.	.	.	.	.	.	.	G	26.4	4.729655	0.89390	.	.	ENSG00000147262	ENST00000276218	.	.	.	5.15	3.28	0.37604	.	0.402975	0.25765	N	0.028452	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.5551	9.8754	0.41200	0.0:0.1481:0.695:0.1569	.	.	.	.	X	200	.	ENSP00000276218:R200X	R	-	1	2	GPR119	129346505	0.991000	0.36638	0.967000	0.41034	0.874000	0.50279	2.081000	0.41596	0.494000	0.27859	0.600000	0.82982	CGA	-	superfamily_SSF81321,HMMPfam_7tm_1		0.542	GPR119-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR119	protein_coding	OTTHUMT00000058270.1	G	NM_178471		129346505	-1	no_errors	NM_178471	genbank	human	provisional	54_36p	nonsense	SNP	0.961	A
PGAM5	192111	genome.wustl.edu	37	12	133294371	133294371	+	Missense_Mutation	SNP	A	A	G	rs117147264	byFrequency	TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr12:133294371A>G	ENST00000498926.2	+	4	630	c.572A>G	c.(571-573)aAg>aGg	p.K191R	PGAM5_ENST00000317555.2_Missense_Mutation_p.K191R|PGAM5_ENST00000543955.1_Missense_Mutation_p.K42R|PXMP2_ENST00000545677.1_3'UTR|PGAM5_ENST00000454808.2_Missense_Mutation_p.K42R	NM_001170543.1|NM_001170544.1	NP_001164014.1|NP_001164015.1	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	191					dephosphorylation (GO:0016311)|necroptotic process (GO:0070266)|positive regulation of GTPase activity (GO:0043547)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)		TCTCATTGGAAGCCGGAAGCT	0.652													A|||	163	0.0325479	0.003	0.1671	5008	,	,		12769	0.0		0.0358	False		,,,				2504	0.0072															0			12						A	ARG/LYS,ARG/LYS,ARG/LYS	38,4320		0,38,2141	22.0	28.0	26.0		572,572,572	5.5	1.0	12	dbSNP_132	26	321,8239		3,315,3962	yes	missense,missense,missense	PGAM5	NM_001170543.1,NM_001170544.1,NM_138575.3	26,26,26	3,353,6103	GG,GA,AA		3.75,0.872,2.7791	benign,benign,benign	191/290,191/289,191/256	133294371	359,12559	2179	4280	6459	131804444	SO:0001583	missense	192111			BC008196	CCDS9280.1, CCDS53845.1	12q24.33	2011-07-28			ENSG00000247077	ENSG00000247077			28763	protein-coding gene	gene with protein product		614939				11283018	Standard	NM_001170543		Approved	MGC5352, BXLBv68	uc009zyv.3	Q96HS1	OTTHUMG00000168021	ENST00000498926.2:c.572A>G	12.37:g.133294371A>G	ENSP00000438465:p.Lys191Arg		131804444	A9LN06|C9IZY7|Q96JB0	Missense_Mutation	SNP	superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM	p.K191R	ENST00000498926.2	37	c.572	CCDS53845.1	12	74	0.03388278388278388	2	0.0040650406504065045	48	0.13259668508287292	0	0.0	24	0.0316622691292876	A	11.76	1.734893	0.30774	0.00872	0.0375	ENSG00000247077	ENST00000317555;ENST00000498926;ENST00000543955;ENST00000454808	T;T	0.71817	-0.6;-0.6	5.5	5.5	0.81552	Histidine phosphatase superfamily, clade-1 (2);	0.000000	0.85682	D	0.000000	T	0.00724	0.0024	N	0.10760	0.04	0.09310	P	0.99999969864	B;B	0.22683	0.035;0.073	B;B	0.19148	0.024;0.019	T	0.10245	-1.0638	9	0.34782	T	0.22	-20.1292	15.6131	0.76744	1.0:0.0:0.0:0.0	.	191;191	Q96HS1;Q96HS1-2	PGAM5_HUMAN;.	R	191;191;42;42	ENSP00000321503:K191R;ENSP00000438465:K191R	ENSP00000321503:K191R	K	+	2	0	PGAM5	131804444	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	8.497000	0.90488	2.084000	0.62774	0.533000	0.62120	AAG	-	superfamily_Phosphoglycerate mutase-like,HMMPfam_PGAM		0.652	PGAM5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM5	protein_coding	OTTHUMT00000397562.1	A	NM_138575		131804444	+1	no_errors	NM_138575	genbank	human	provisional	54_36p	missense	SNP	1.000	G
PCDHB16	57717	genome.wustl.edu	37	5	140567927	140567927	+	IGR	SNP	T	T	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:140567927T>G	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATCCTCCTGAACTGATCA	0.373																																																0			5											72.0	76.0	75.0					5																	140567927		2054	4240	6294	140548111	SO:0001628	intergenic_variant	56127			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567927T>G			140548111	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_SM00112	p.P345	ENST00000361016.2	37	c.1035	CCDS4251.1	5																																																																																			-	superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1		0.373	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB9	protein_coding	OTTHUMT00000251800.1	T	NM_020957		140548111	+1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_019119	genbank	human	reviewed	54_36p	silent	SNP	0.889	G
PCDHB13	56123	genome.wustl.edu	37	5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:140594357C>T	ENST00000341948.4	+	1	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P221L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532																																																1	Substitution - Missense(1)	ovary(1)	5											97.0	104.0	102.0					5																	140594357		2203	4300	6503	140574541	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.662C>T	5.37:g.140594357C>T	ENSP00000345491:p.Pro221Leu		140574541	A8K9V6	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.P221L	ENST00000341948.4	37	c.662	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	c	29.3	4.992937	0.93167	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.00792	5.69	3.51	2.6	0.31112	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06554	0.0168	H	0.95982	3.75	0.46478	D	0.999069	D	0.65815	0.995	D	0.71870	0.975	T	0.01162	-1.1432	9	0.66056	D	0.02	.	11.0844	0.48078	0.0:0.9018:0.0:0.0982	.	221	Q9Y5F0	PCDBD_HUMAN	L	221	ENSP00000345491:P221L	ENSP00000345491:P221L	P	+	2	0	PCDHB13	140574541	0.999000	0.42202	0.006000	0.13384	0.808000	0.45660	4.915000	0.63355	0.548000	0.28955	0.306000	0.20318	CCG	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.532	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	C	NM_018933		140574541	+1	no_errors	NM_018933	genbank	human	reviewed	54_36p	missense	SNP	0.258	T
LARS	51520	genome.wustl.edu	37	5	145523850	145523850	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr5:145523850C>G	ENST00000394434.2	-	18	1884	c.1718G>C	c.(1717-1719)tGc>tCc	p.C573S	LARS_ENST00000274562.9_Missense_Mutation_p.C546S|LARS_ENST00000510191.1_Missense_Mutation_p.C519S|LARS_ENST00000545646.1_Missense_Mutation_p.C527S	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	573					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	AGTTCTTGAGCAAGCATGTTC	0.383																																																0			5											77.0	79.0	79.0					5																	145523850		2203	4300	6503	145504043	SO:0001583	missense	51520			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1718G>C	5.37:g.145523850C>G	ENSP00000377954:p.Cys573Ser		145504043	A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	superfamily_Nucleotidylyl transferase,PatternScan_AA_TRNA_LIGASE_I,superfamily_ValRS/IleRS/LeuRS editing domain,HMMPfam_tRNA-synt_1g,superfamily_Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases,HMMPfam_Anticodon_1	p.C573S	ENST00000394434.2	37	c.1718	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577935	0.86645	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.24	5.24	0.73138	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	D	0.92977	0.7765	H	0.98005	4.125	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.79784	0.993;0.99;0.98	D	0.95361	0.8455	10	0.87932	D	0	-4.5763	19.2389	0.93873	0.0:1.0:0.0:0.0	.	546;527;573	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	S	573;527;519;546	ENSP00000377954:C573S;ENSP00000437791:C527S;ENSP00000426005:C519S;ENSP00000274562:C546S	ENSP00000274562:C546S	C	-	2	0	LARS	145504043	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.252000	0.78309	2.624000	0.88883	0.485000	0.47835	TGC	-	superfamily_Nucleotidylyl transferase		0.383	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	protein_coding	OTTHUMT00000373367.1	C	NM_020117		145504043	-1	no_errors	NM_020117	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ADAM15	8751	genome.wustl.edu	37	1	155030519	155030519	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:155030519C>T	ENST00000356955.2	+	14	1710	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	ADAM15_ENST00000368412.3_Missense_Mutation_p.P537S|ADAM15_ENST00000355956.2_Missense_Mutation_p.P537S|ADAM15_ENST00000359280.4_Missense_Mutation_p.P537S|ADAM15_ENST00000368413.1_Missense_Mutation_p.P243S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Missense_Mutation_p.P547S|ADAM15_ENST00000449910.2_Missense_Mutation_p.P537S|ADAM15_ENST00000368410.2_Missense_Mutation_p.P243S|ADAM15_ENST00000271836.6_Missense_Mutation_p.P537S|ADAM15_ENST00000360674.4_Missense_Mutation_p.P537S|ADAM15_ENST00000447332.3_Missense_Mutation_p.P521S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	537	Cys-rich.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACTTTGGGGACCTGGAGCCCA	0.627																																																0			1											62.0	63.0	62.0					1																	155030519		2203	4300	6503	153297143	SO:0001583	missense	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.1609C>T	1.37:g.155030519C>T	ENSP00000349436:p.Pro537Ser		153297143	B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2,PatternScan_EGF_2"	p.P537S	ENST00000356955.2	37	c.1609	CCDS1087.1	1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.840306	0.71488	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01;2.01	5.4	4.47	0.54385	ADAM, cysteine-rich (2);	0.000000	0.44688	D	0.000437	T	0.24928	0.0605	L	0.50333	1.59	0.49915	D	0.999839	D;D;D;D;P;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.938;1.0;1.0;1.0;0.569;1.0;1.0	D;D;D;D;P;D;D;D;P;D;D	0.97110	0.995;0.995;0.995;0.999;0.881;0.991;0.991;0.991;0.493;1.0;0.995	T	0.02167	-1.1202	10	0.28530	T	0.3	.	11.1452	0.48426	0.1837:0.8163:0.0:0.0	.	547;554;521;537;537;537;537;537;537;537;534	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	S	537;537;537;537;537;537;243;537;243;547	ENSP00000349436:P537S;ENSP00000403843:P537S;ENSP00000352226:P537S;ENSP00000353892:P537S;ENSP00000357397:P537S;ENSP00000348227:P537S;ENSP00000357395:P243S;ENSP00000271836:P537S;ENSP00000357398:P243S;ENSP00000432927:P547S	ENSP00000271836:P537S	P	+	1	0	ADAM15	153297143	0.076000	0.21285	0.692000	0.30179	0.878000	0.50629	0.765000	0.26546	1.473000	0.48159	0.655000	0.94253	CCT	-	HMMSmart_SM00608,HMMPfam_ADAM_CR		0.627	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM15	protein_coding	OTTHUMT00000387168.1	C	NM_003815		153297143	+1	no_errors	NM_207197	genbank	human	reviewed	54_36p	missense	SNP	0.160	T
GRIA2	2891	genome.wustl.edu	37	4	158224737	158224737	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr4:158224737T>A	ENST00000264426.9	+	3	542	c.263T>A	c.(262-264)aTt>aAt	p.I88N	GRIA2_ENST00000507898.1_Missense_Mutation_p.I41N|GRIA2_ENST00000393815.2_Missense_Mutation_p.I41N|GRIA2_ENST00000449365.1_Missense_Mutation_p.I41N|GRIA2_ENST00000296526.7_Missense_Mutation_p.I88N|GRIA2_ENST00000504801.1_3'UTR	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	88					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GTCTATGCTATTTTTGGATTT	0.388																																																0			4											126.0	123.0	124.0					4																	158224737		2203	4300	6503	158444187	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.263T>A	4.37:g.158224737T>A	ENSP00000264426:p.Ile88Asn		158444187	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,superfamily_SSF53850,HMMSmart_PBPe,HMMPfam_Lig_chan-Glu_bd,HMMPfam_Lig_chan	p.I88N	ENST00000264426.9	37	c.263	CCDS43274.1	4	.	.	.	.	.	.	.	.	.	.	T	26.7	4.760529	0.89932	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000506284;ENST00000505888;ENST00000449365	D;D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.8	5.8	0.92144	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92071	0.7487	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.99;0.997	D	0.92916	0.6351	10	0.87932	D	0	.	16.1438	0.81548	0.0:0.0:0.0:1.0	.	88;88;41	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	N	41;41;88;88;88;41;41;41	ENSP00000426845:I41N;ENSP00000377403:I41N;ENSP00000425217:I88N;ENSP00000296526:I88N;ENSP00000264426:I88N;ENSP00000426513:I41N;ENSP00000422038:I41N;ENSP00000389837:I41N	ENSP00000264426:I88N	I	+	2	0	GRIA2	158444187	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.004000	0.88535	2.210000	0.71456	0.528000	0.53228	ATT	-	superfamily_SSF53822,HMMPfam_ANF_receptor		0.388	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA2	protein_coding	OTTHUMT00000258367.2	T			158444187	+1	no_errors	NM_000826	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
SLAMF7	57823	genome.wustl.edu	37	1	160718306	160718306	+	Splice_Site	SNP	T	T	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:160718306T>A	ENST00000368043.3	+	2	413		c.e2+2		SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000444090.2_Splice_Site|SLAMF7_ENST00000441662.2_Splice_Site|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000359331.4_Splice_Site	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7						cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGTCTACGGTGAGCAAAATC	0.498																																																0			1											63.0	56.0	58.0					1																	160718306		2203	4300	6503	158984930	SO:0001630	splice_region_variant	57823			AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.376+2T>A	1.37:g.160718306T>A			158984930	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Splice_Site	SNP	-	e2+2	ENST00000368043.3	37	c.376+2	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652678	0.29336	.	.	ENSG00000026751	ENST00000444090;ENST00000441662;ENST00000368043;ENST00000359331	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7795	0.46369	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLAMF7	158984930	1.000000	0.71417	0.993000	0.49108	0.152000	0.21847	3.605000	0.54088	2.096000	0.63516	0.528000	0.53228	.	-	-		0.498	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	protein_coding	OTTHUMT00000060464.1	T	NM_021181	Intron	158984930	+1	no_errors	NM_021181	genbank	human	provisional	54_36p	splice_site	SNP	0.947	A
ZNF648	127665	genome.wustl.edu	37	1	182026962	182026962	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:182026962T>C	ENST00000339948.3	-	2	391	c.184A>G	c.(184-186)Aca>Gca	p.T62A		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	62					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						TTTTCGTGTGTTACTGGGGAG	0.572																																					NSCLC(71;908 1374 5429 20458 35642)											0			1											83.0	85.0	85.0					1																	182026962		2203	4300	6503	180293585	SO:0001583	missense	127665			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.184A>G	1.37:g.182026962T>C	ENSP00000344129:p.Thr62Ala		180293585	B2RP16	Missense_Mutation	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T62A	ENST00000339948.3	37	c.184	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	T	10.92	1.485709	0.26686	.	.	ENSG00000179930	ENST00000339948	T	0.08193	3.12	3.42	2.23	0.28157	.	.	.	.	.	T	0.05318	0.0141	L	0.29908	0.895	0.09310	N	1	B	0.21520	0.057	B	0.15870	0.014	T	0.44097	-0.9350	9	0.20519	T	0.43	.	3.8276	0.08861	0.0:0.1217:0.2238:0.6545	.	62	Q5T619	ZN648_HUMAN	A	62	ENSP00000344129:T62A	ENSP00000344129:T62A	T	-	1	0	ZNF648	180293585	0.004000	0.15560	0.006000	0.13384	0.019000	0.09904	0.340000	0.19892	0.449000	0.26747	0.533000	0.62120	ACA	-	NULL		0.572	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	protein_coding	OTTHUMT00000090794.1	T	XM_060597		180293585	-1	no_errors	NM_001009992	genbank	human	provisional	54_36p	missense	SNP	0.000	C
HMCN1	83872	genome.wustl.edu	37	1	186135338	186135338	+	Silent	SNP	G	G	C			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr1:186135338G>C	ENST00000271588.4	+	99	15571	c.15342G>C	c.(15340-15342)ggG>ggC	p.G5114G	HMCN1_ENST00000367492.2_Silent_p.G5114G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5114	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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						GTGCAGCAGGGAATCCCTGCT	0.438																																																0			1											85.0	73.0	77.0					1																	186135338		2203	4300	6503	184401961	SO:0001819	synonymous_variant	83872			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.15342G>C	1.37:g.186135338G>C			184401961	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	superfamily_vWA-like,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set,HMMSmart_SM00406,PatternScan_CECROPIN,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00682,HMMPfam_G2F,superfamily_GFP-like,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_ASX_HYDROXYL,HMMPfam_EGF_CA,PatternScan_EGF_2	p.G5114	ENST00000271588.4	37	c.15342	CCDS30956.1	1																																																																																			-	PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF		0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	protein_coding	OTTHUMT00000131848.1	G	NM_031935		184401961	+1	no_errors	NM_031935	genbank	human	reviewed	54_36p	silent	SNP	0.984	C
GTF3C3	9330	genome.wustl.edu	37	2	197636523	197636523	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:197636523C>A	ENST00000263956.3	-	15	2298	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	737					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCATTTAAGACACATAGGGCA	0.418																																																0			2											159.0	140.0	147.0					2																	197636523		2203	4300	6503	197344768	SO:0001583	missense	9330			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2209G>T	2.37:g.197636523C>A	ENSP00000263956:p.Val737Phe		197344768	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	HMMSmart_SM00028,superfamily_Protein prenylyltransferase,HMMPfam_TPR_2,superfamily_TPR-like,HMMPfam_TPR_1	p.V737F	ENST00000263956.3	37	c.2209	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	13.96	2.391583	0.42410	.	.	ENSG00000119041	ENST00000263956	T	0.50813	0.73	5.21	5.21	0.72293	Tetratricopeptide-like helical (1);	0.124426	0.53938	D	0.000055	T	0.46367	0.1389	L	0.49126	1.545	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.32241	-0.9914	10	0.36615	T	0.2	-7.5028	18.9503	0.92638	0.0:1.0:0.0:0.0	.	737	Q9Y5Q9	TF3C3_HUMAN	F	737	ENSP00000263956:V737F	ENSP00000263956:V737F	V	-	1	0	GTF3C3	197344768	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	2.982000	0.49337	2.699000	0.92147	0.650000	0.86243	GTC	-	superfamily_TPR-like		0.418	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	protein_coding	OTTHUMT00000256104.1	C			197344768	-1	no_errors	NM_012086	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ERBB4	2066	genome.wustl.edu	37	2	212578349	212578349	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2613-01A-01W-1092-09	TCGA-61-2613-11A-01W-1092-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f23c9abe-ad14-42bf-81aa-dab330395c71	b91b08e2-dacf-4c54-858f-6b19b3b5587b	g.chr2:212578349G>A	ENST00000342788.4	-	8	1218	c.908C>T	c.(907-909)tCt>tTt	p.S303F	ERBB4_ENST00000436443.1_Missense_Mutation_p.S303F|ERBB4_ENST00000402597.1_Missense_Mutation_p.S303F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	303	Cys-rich.		S -> Y (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S303F(1)|p.S303Y(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACGCACACAAGAACTGGAATC	0.348										TSP Lung(8;0.080)																																						2	Substitution - Missense(2)	lung(1)|endometrium(1)	2											99.0	95.0	96.0					2																	212578349		2203	4300	6503	212286594	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.908C>T	2.37:g.212578349G>A	ENSP00000342235:p.Ser303Phe		212286594	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	superfamily_L domain-like,HMMPfam_Recep_L_domain,HMMSmart_SM00261,HMMPfam_Furin-like,superfamily_Growth factor receptor domain,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,HMMPfam_YLP	p.S303F	ENST00000342788.4	37	c.908	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.680321|4.680321	0.88542|0.88542	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|T;T;T	.|0.31769	.|1.48;1.48;1.48	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62648|0.62648	0.2445|0.2445	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	.|D;P;D;D;D	.|0.89917	.|1.0;0.913;0.97;1.0;1.0	.|D;P;P;D;D	.|0.91635	.|0.999;0.741;0.716;0.999;0.999	T|T	0.65191|0.65191	-0.6228|-0.6228	5|9	.|.	.|.	.|.	.|.	19.6299|19.6299	0.95698|0.95698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|303;303;162;303;303	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	F|F	303|303	.|ENSP00000342235:S303F;ENSP00000403204:S303F;ENSP00000385565:S303F	.|.	L|S	-|-	1|2	0|0	ERBB4|ERBB4	212286594|212286594	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.639000|2.639000	0.89480|0.89480	0.655000|0.655000	0.94253|0.94253	CTT|TCT	-	HMMPfam_Furin-like,superfamily_Growth factor receptor domain		0.348	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	protein_coding	OTTHUMT00000256597.1	G	NM_001042599		212286594	-1	no_errors	NM_005235	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
