#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
C9orf43	257169	genome.wustl.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	GCA	GCA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						dbGAP											0										2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				-	-	-	SO:0001651	inframe_deletion	0			BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	NULL	p.Q300in_frame_del	ENST00000288462.4	37	c.888_890	CCDS6796.1	9																																																																																			C9orf43	-	NULL	ENSG00000157653		0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C9orf43	HGNC	protein_coding	OTTHUMT00000053739.1	33	0.00	0	GCA	NM_152786		116187646	116187648	+1	no_errors	ENST00000288462	ensembl	human	known	69_37n	in_frame_del	30	11.76	4	DEL	0.211:0.207:0.211	-
C9orf78	51759	genome.wustl.edu	37	9	132590352	132590353	+	3'UTR	DNP	AG	AG	GT	rs1806988|rs386738850|rs1806989|rs66948024	byFrequency	TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	A|G	A|G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr9:132590352_132590353AG>GT	ENST00000372447.3	-	0	1010_1011				C9orf78_ENST00000461762.1_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				gattacaggcaggagccaccac	0.559																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.868_868delinsGT	9.37:g.132590352_132590353delinsGT		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPX8|Q8WVU6|Q9NT39	RNA	SNP	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			C9orf78	-	-	ENSG00000136819		0.559	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1	10	0.00	0	A|G	NM_016520		132590352|132590353	132590352|132590353	-1	no_errors	ENST00000461349	ensembl	human	known	69_37n	rna	6	66.67	12	SNP	0.000|0.003	G|T
CCNY	219771	genome.wustl.edu	37	10	35842095	35842095	+	Missense_Mutation	SNP	A	A	C			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr10:35842095A>C	ENST00000374704.4	+	8	908	c.728A>C	c.(727-729)gAc>gCc	p.D243A	CCNY_ENST00000374706.1_Missense_Mutation_p.D189A|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000265375.9_Missense_Mutation_p.D189A|CCNY_ENST00000339497.5_Missense_Mutation_p.D218A	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	243	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATCCTGAAAGACATCACGGTG	0.522																																						dbGAP											0													91.0	90.0	90.0					10																	35842095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.728A>C	10.37:g.35842095A>C	ENSP00000363836:p.Asp243Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	p.D243A	ENST00000374704.4	37	c.728	CCDS7189.1	10	.	.	.	.	.	.	.	.	.	.	A	19.25	3.791761	0.70452	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	5.32	5.32	0.75619	Cyclin, N-terminal (1);Cyclin-like (3);	0.129557	0.64402	D	0.000002	T	0.30479	0.0766	M	0.84433	2.695	0.80722	D	1	P;P;P	0.46142	0.873;0.846;0.763	P;P;P	0.51999	0.672;0.687;0.685	T	0.11372	-1.0590	10	0.87932	D	0	-5.3981	15.5752	0.76373	1.0:0.0:0.0:0.0	.	110;218;243	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	A	189;243;243;218;189;110	ENSP00000363838:D189A;ENSP00000363836:D243A;ENSP00000344275:D218A;ENSP00000265375:D189A	ENSP00000265375:D189A	D	+	2	0	CCNY	35882101	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.249000	0.95470	2.142000	0.66516	0.533000	0.62120	GAC	CCNY	-	pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y	ENSG00000108100		0.522	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNY	HGNC	protein_coding	OTTHUMT00000047568.2	65	0.00	0	A	NM_181698		35842095	35842095	+1	no_errors	ENST00000374704	ensembl	human	known	69_37n	missense	39	18.75	9	SNP	1.000	C
CDH1	999	genome.wustl.edu	37	16	68849631	68849631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr16:68849631G>T	ENST00000261769.5	+	10	1725	c.1534G>T	c.(1534-1536)Gag>Tag	p.E512*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.E451*|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	512	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACTGCCCAGGAGCCAGACAC	0.428			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)											111.0	101.0	105.0					16																	68849631		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1534G>T	16.37:g.68849631G>T	ENSP00000261769:p.Glu512*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E512*	ENST00000261769.5	37	c.1534	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.560138	0.96527	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.02	5.02	0.67125	.	0.759830	0.11540	N	0.553869	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.2967	0.90148	0.0:0.0:1.0:0.0	.	.	.	.	X	512;530;512;451	.	ENSP00000261769:E512X	E	+	1	0	CDH1	67407132	1.000000	0.71417	0.314000	0.25224	0.518000	0.34316	9.414000	0.97362	2.486000	0.83907	0.561000	0.74099	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.428	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	92	0.00	0	G	NM_004360		68849631	68849631	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	51	12.07	7	SNP	0.998	T
CRAT	1384	genome.wustl.edu	37	9	131871216	131871216	+	Intron	SNP	G	G	A			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr9:131871216G>A	ENST00000318080.2	-	2	322				CRAT_ENST00000393384.3_Intron|PPP2R4_ENST00000357197.4_5'Flank|AL158151.2_ENST00000408594.1_RNA|PPP2R4_ENST00000347048.4_5'Flank|PPP2R4_ENST00000358994.4_5'Flank|PPP2R4_ENST00000337738.1_5'Flank|PPP2R4_ENST00000348141.5_5'Flank|PPP2R4_ENST00000393370.2_5'Flank|PPP2R4_ENST00000452489.2_5'Flank|PPP2R4_ENST00000355007.3_5'Flank|CRAT_ENST00000464290.1_Intron	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase						carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	AGATTCAGCGGGAGGCAGGTG	0.587											OREG0003931	type=REGULATORY REGION|Gene=CRAT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.28-860C>T	9.37:g.131871216G>A		Somatic	1591	WXS	Illumina GAIIx	Phase_IV	Q5T952|Q9BW16	RNA	SNP	-	NULL	ENST00000318080.2	37	NULL	CCDS6919.1	9																																																																																			CRAT	-	-	ENSG00000095321		0.587	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	56	0.00	0	G			131871216	131871216	-1	no_errors	ENST00000460708	ensembl	human	putative	69_37n	rna	61	10.29	7	SNP	0.008	A
FMN1	342184	genome.wustl.edu	37	15	33445437	33445437	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr15:33445437C>G	ENST00000559047.1	-	1	1678	c.1679G>C	c.(1678-1680)cGt>cCt	p.R560P	FMN1_ENST00000320930.7_Missense_Mutation_p.R560P|FMN1_ENST00000561249.1_Missense_Mutation_p.R560P			Q68DA7	FMN1_HUMAN	formin 1	560	Mediates interaction with alpha-catenin. {ECO:0000250}.|Microtubule-binding. {ECO:0000250}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AGAGAAGACACGGCTCTTTCT	0.597																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.1679G>C	15.37:g.33445437C>G	ENSP00000454047:p.Arg560Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	NULL	p.R560P	ENST00000559047.1	37	c.1679		15	.	.	.	.	.	.	.	.	.	.	C	6.995	0.553718	0.13374	.	.	ENSG00000186031	ENST00000320930	.	.	.	5.05	3.01	0.34805	.	0.840853	0.10362	N	0.683920	T	0.24812	0.0602	N	0.14661	0.345	0.27018	N	0.964535	P	0.34522	0.455	B	0.33196	0.159	T	0.22452	-1.0216	8	0.38643	T	0.18	.	7.5773	0.27944	0.1221:0.6878:0.119:0.071	.	560	C9JFW6	.	P	560	.	ENSP00000325166:R560P	R	-	2	0	AC090098.1	31232729	0.000000	0.05858	0.002000	0.10522	0.244000	0.25665	-0.410000	0.07151	1.469000	0.48083	0.655000	0.94253	CGT	FMN1	-	NULL	ENSG00000248905		0.597	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	HGNC	protein_coding	OTTHUMT00000417414.1	61	0.00	0	C	NM_001103184		33445437	33445437	-1	no_errors	ENST00000320930	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.001	G
GAP43	2596	genome.wustl.edu	37	3	115395232	115395232	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr3:115395232G>A	ENST00000305124.6	+	2	769	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	GAP43_ENST00000393780.3_Missense_Mutation_p.A171T	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	135					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		AGAGGAGAAGGCCGGCTCAGC	0.592																																						dbGAP											0													31.0	37.0	35.0					3																	115395232		2201	4299	6500	-	-	-	SO:0001583	missense	0				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.403G>A	3.37:g.115395232G>A	ENSP00000305010:p.Ala135Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Neuromodulin,pfscan_IQ_motif_EF-hand-BS	p.A135T	ENST00000305124.6	37	c.403	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	G	17.81	3.480275	0.63849	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.46063	0.88;0.88	5.32	4.42	0.53409	Neuromodulin (GAP-43), C-terminal (1);	0.191042	0.45867	D	0.000340	T	0.28665	0.0710	L	0.34521	1.04	0.42764	D	0.993811	B;B	0.29552	0.248;0.022	B;B	0.30179	0.112;0.027	T	0.06679	-1.0813	10	0.27785	T	0.31	-9.2267	7.6395	0.28286	0.093:0.2548:0.6522:0.0	.	171;135	A8K0Y4;P17677	.;NEUM_HUMAN	T	135;171	ENSP00000305010:A135T;ENSP00000377372:A171T	ENSP00000305010:A135T	A	+	1	0	GAP43	116877922	0.840000	0.29493	1.000000	0.80357	0.993000	0.82548	0.133000	0.15912	2.772000	0.95346	0.650000	0.86243	GCC	GAP43	-	pfam_Neuromodulin_C	ENSG00000172020		0.592	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	62	0.00	0	G	NM_002045		115395232	115395232	+1	no_errors	ENST00000305124	ensembl	human	known	69_37n	missense	55	21.13	15	SNP	1.000	A
GIMAP8	155038	genome.wustl.edu	37	7	150174788	150174788	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr7:150174788G>A	ENST00000307271.3	+	5	2492	c.1918G>A	c.(1918-1920)Gtc>Atc	p.V640I		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	640	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		ACAGGAGAACGTCAGCAAACT	0.438																																						dbGAP											0													61.0	69.0	66.0					7																	150174788		2200	4300	6500	-	-	-	SO:0001583	missense	0			AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1918G>A	7.37:g.150174788G>A	ENSP00000305107:p.Val640Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_AIG1	p.V640I	ENST00000307271.3	37	c.1918	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	G	1.740	-0.492057	0.04322	.	.	ENSG00000171115	ENST00000307271	T	0.06068	3.35	3.81	-6.41	0.01938	AIG1 (1);	1.469850	0.04882	N	0.447802	T	0.04048	0.0113	L	0.31926	0.97	0.09310	N	1	B	0.20671	0.047	B	0.09377	0.004	T	0.44590	-0.9318	10	0.06757	T	0.87	.	7.934	0.29918	0.6575:0.1324:0.2101:0.0	.	640	Q8ND71	GIMA8_HUMAN	I	640	ENSP00000305107:V640I	ENSP00000305107:V640I	V	+	1	0	GIMAP8	149805721	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.581000	0.02119	-1.845000	0.01176	0.514000	0.50259	GTC	GIMAP8	-	pfam_AIG1	ENSG00000171115		0.438	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	52	0.00	0	G	NM_175571		150174788	150174788	+1	no_errors	ENST00000307271	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.000	A
LINGO2	158038	genome.wustl.edu	37	9	27950323	27950323	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr9:27950323C>T	ENST00000379992.2	-	6	796	c.347G>A	c.(346-348)cGt>cAt	p.R116H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R116H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	116						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAGCTTTAGACGATTGCCTTT	0.438																																						dbGAP											0													126.0	124.0	125.0					9																	27950323		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.347G>A	9.37:g.27950323C>T	ENSP00000369328:p.Arg116His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R116H	ENST00000379992.2	37	c.347	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674861	0.67928	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.60171	0.21;0.21	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.40522	0.1120	L	0.33189	0.99	0.80722	D	1	P	0.39282	0.666	B	0.25405	0.06	T	0.31806	-0.9930	9	.	.	.	.	13.7487	0.62894	0.0:0.9299:0.0:0.0701	.	116	Q7L985	LIGO2_HUMAN	H	116	ENSP00000369328:R116H;ENSP00000310126:R116H	.	R	-	2	0	LINGO2	27940323	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.017000	0.70805	2.941000	0.99782	0.655000	0.94253	CGT	LINGO2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000174482		0.438	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	39	0.00	0	C	NM_152570		27950323	27950323	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	1.000	T
MUC5B	727897	genome.wustl.edu	37	11	1268037	1268037	+	Silent	SNP	G	G	A	rs533261138	byFrequency	TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr11:1268037G>A	ENST00000529681.1	+	31	9985	c.9927G>A	c.(9925-9927)ccG>ccA	p.P3309P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.P3312P	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3309	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAAGTGCCGACTACCACAA	0.637													g|||	42	0.00838658	0.0	0.0043	5008	,	,		18213	0.0357		0.001	False		,,,				2504	0.002					dbGAP											0													33.0	50.0	45.0					11																	1268037		1874	4089	5963	-	-	-	SO:0001819	synonymous_variant	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9927G>A	11.37:g.1268037G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.P3312	ENST00000529681.1	37	c.9936	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043215	0.07452	.	.	ENSG00000117983	ENST00000538459	.	.	.	3.11	-6.22	0.02058	.	.	.	.	.	T	0.12135	0.0295	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	5	0.12430	T	0.62	.	0.2084	0.00153	0.249:0.2113:0.2624:0.2772	.	.	.	.	Q	193	.	ENSP00000442622:R193Q	R	+	2	0	MUC5B	1224613	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.501000	0.06398	-2.267000	0.00686	0.195000	0.17529	CGA	MUC5B	-	NULL	ENSG00000117983		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	36	0.00	0	G	XM_001126093		1268037	1268037	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	silent	34	12.82	5	SNP	0.000	A
NLRP7	199713	genome.wustl.edu	37	19	55451644	55451644	+	Silent	SNP	G	G	A			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr19:55451644G>A	ENST00000590030.1	-	3	583	c.543C>T	c.(541-543)ggC>ggT	p.G181G	NLRP7_ENST00000448121.2_Silent_p.G181G|NLRP7_ENST00000588756.1_Silent_p.G181G|NLRP7_ENST00000446217.1_Silent_p.G209G|NLRP7_ENST00000328092.5_Silent_p.G181G|NLRP7_ENST00000592784.1_Silent_p.G181G|NLRP7_ENST00000340844.2_Silent_p.G181G			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	181	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTTTCCCCACGCCTGCGGGGC	0.562																																						dbGAP											0													118.0	121.0	120.0					19																	55451644		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.543C>T	19.37:g.55451644G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.G209	ENST00000590030.1	37	c.627	CCDS33109.1	19																																																																																			NLRP7	-	pfscan_NACHT_NTPase	ENSG00000167634		0.562	NLRP7-003	KNOWN	basic|CCDS	protein_coding	NLRP7	HGNC	protein_coding	OTTHUMT00000451396.1	105	0.00	0	G	NM_139176		55451644	55451644	-1	no_errors	ENST00000446217	ensembl	human	known	69_37n	silent	63	25.00	21	SNP	0.153	A
OR51B5	282763	genome.wustl.edu	37	11	5364309	5364309	+	Missense_Mutation	SNP	C	C	T	rs201624543		TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr11:5364309C>T	ENST00000300773.2	-	1	500	c.446G>A	c.(445-447)aGg>aAg	p.R149K	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	149					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACAAATCCCCTCATCAGAAC	0.448																																						dbGAP											0													53.0	58.0	57.0					11																	5364309		2201	4297	6498	-	-	-	SO:0001583	missense	0			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.446G>A	11.37:g.5364309C>T	ENSP00000300773:p.Arg149Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RN59	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R149K	ENST00000300773.2	37	c.446	CCDS31378.1	11	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359374	0.61403	.	.	ENSG00000242180	ENST00000300773	T	0.37411	1.2	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000340	T	0.47210	0.1433	M	0.72479	2.2	0.09310	N	1	P	0.45396	0.857	P	0.47075	0.536	T	0.46414	-0.9193	10	0.46703	T	0.11	.	16.5679	0.84603	0.0:1.0:0.0:0.0	.	149	Q9H339	O51B5_HUMAN	K	149	ENSP00000300773:R149K	ENSP00000300773:R149K	R	-	2	0	OR51B5	5320885	0.001000	0.12720	0.096000	0.21009	0.959000	0.62525	1.409000	0.34680	2.493000	0.84123	0.650000	0.86243	AGG	OR51B5	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000242180		0.448	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	25	0.00	0	C	NM_001005567		5364309	5364309	-1	no_errors	ENST00000300773	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	0.028	T
PRKDC	5591	genome.wustl.edu	37	8	48701485	48701485	+	Frame_Shift_Del	DEL	A	A	-			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr8:48701485delA	ENST00000314191.2	-	77	10937	c.10881delT	c.(10879-10881)tttfs	p.F3627fs	PRKDC_ENST00000338368.3_Frame_Shift_Del_p.F3627fs|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3628					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ACTTCCTTCTAAAGGCCCCCA	0.378								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													69.0	67.0	67.0					8																	48701485		1800	4068	5868	-	-	-	SO:0001589	frameshift_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10881delT	8.37:g.48701485delA	ENSP00000313420:p.Phe3627fs	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Frame_Shift_Del	DEL	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.F3627fs	ENST00000314191.2	37	c.10881		8																																																																																			PRKDC	-	NULL	ENSG00000253729		0.378	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		54	0.00	0	A	NM_001081640		48701485	48701485	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	0.183	-
RUNX1	861	genome.wustl.edu	37	21	36252998	36252998	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr21:36252998C>G	ENST00000344691.4	-	2	1860	c.283G>C	c.(283-285)Ggg>Cgg	p.G95R	RUNX1_ENST00000300305.3_Missense_Mutation_p.G122R|RUNX1_ENST00000486278.2_Missense_Mutation_p.G98R|RUNX1_ENST00000437180.1_Missense_Mutation_p.G122R|RUNX1_ENST00000399240.1_Missense_Mutation_p.G95R|RUNX1_ENST00000325074.5_Missense_Mutation_p.G110R|RUNX1_ENST00000358356.5_Missense_Mutation_p.G95R	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	95	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGAACATCCCCTAGGGCCACC	0.453			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													90.0	77.0	82.0					21																	36252998		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.283G>C	21.37:g.36252998C>G	ENSP00000340690:p.Gly95Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.G122R	ENST00000344691.4	37	c.364	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010519	0.93346	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000399245;ENST00000358356;ENST00000399237;ENST00000486278;ENST00000455571	D;D;D;D;D;D;D;D;D	0.99503	-6.03;-6.03;-6.03;-6.03;-6.03;-6.03;-6.03;-6.03;-6.03	5.31	5.31	0.75309	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.88775	2.98	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;0.996;1.0	D	0.98179	1.0456	10	0.87932	D	0	-20.4623	19.3355	0.94316	0.0:1.0:0.0:0.0	.	122;95;122;110;95	Q2TAM6;Q01196-3;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	R	95;122;122;110;95;98;95;110;98;109	ENSP00000340690:G95R;ENSP00000300305:G122R;ENSP00000409227:G122R;ENSP00000319459:G110R;ENSP00000382184:G95R;ENSP00000351123:G95R;ENSP00000382182:G110R;ENSP00000438019:G98R;ENSP00000388189:G109R	ENSP00000300305:G122R	G	-	1	0	RUNX1	35174868	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.445000	0.80570	2.652000	0.90054	0.655000	0.94253	GGG	RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.453	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	50	0.00	0	C			36252998	36252998	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	34	15.00	6	SNP	1.000	G
TCN2	6948	genome.wustl.edu	37	22	31008889	31008889	+	Missense_Mutation	SNP	G	G	A	rs141635240		TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr22:31008889G>A	ENST00000215838.3	+	3	781	c.287G>A	c.(286-288)tGc>tAc	p.C96Y	TCN2_ENST00000405742.3_Missense_Mutation_p.C92Y|TCN2_ENST00000407817.3_Missense_Mutation_p.C96Y			P20062	TCO2_HUMAN	transcobalamin II	96					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACGGTGACTGCCAGGGCAAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		15664	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													64.0	58.0	60.0					22																	31008889		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.287G>A	22.37:g.31008889G>A	ENSP00000215838:p.Cys96Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	p.C96Y	ENST00000215838.3	37	c.287	CCDS13881.1	22	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	0.936	-0.711222	0.03230	.	.	ENSG00000185339	ENST00000215838;ENST00000405742;ENST00000407817	T;T;T	0.34667	2.63;2.63;1.35	5.01	-3.01	0.05463	.	1.455540	0.03433	N	0.208024	T	0.24431	0.0592	L	0.51422	1.61	0.09310	N	0.999995	B;B;B	0.31879	0.344;0.284;0.284	B;B;B	0.31390	0.129;0.051;0.051	T	0.09509	-1.0671	10	0.06757	T	0.87	-1.8516	1.8985	0.03263	0.2557:0.1196:0.4501:0.1745	.	96;92;96	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	Y	96;92;96	ENSP00000215838:C96Y;ENSP00000385914:C92Y;ENSP00000384914:C96Y	ENSP00000215838:C96Y	C	+	2	0	TCN2	29338889	0.000000	0.05858	0.001000	0.08648	0.143000	0.21401	-0.293000	0.08320	-0.129000	0.11620	0.655000	0.94253	TGC	TCN2	-	pfam_Cbl-bd_transpt_euk,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000185339		0.597	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	HGNC	protein_coding	OTTHUMT00000321282.2	30	0.00	0	G	NM_000355		31008889	31008889	+1	no_errors	ENST00000215838	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.003	A
ZNF507	22847	genome.wustl.edu	37	19	32838287	32838287	+	Intron	SNP	A	A	C	rs7256708	byFrequency	TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chr19:32838287A>C	ENST00000311921.4	+	1	190				ZNF507_ENST00000544431.1_Intron|ZNF507_ENST00000355898.5_Intron	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						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(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					tatttataagactgtataaca	0.403													A|||	1927	0.384784	0.2632	0.5591	5008	,	,		17394	0.2361		0.5596	False		,,,				2504	0.3988					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.-3+1598A>C	19.37:g.32838287A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	RNA	SNP	-	NULL	ENST00000311921.4	37	NULL	CCDS32985.1	19																																																																																			ZNF507	-	-	ENSG00000168813		0.403	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	10	0.00	0	A	NM_014910		32838287	32838287	+1	no_errors	ENST00000588686	ensembl	human	known	69_37n	rna	1	88.89	8	SNP	0.000	C
ZNF81	347344	genome.wustl.edu	37	X	47775907	47775907	+	Missense_Mutation	SNP	A	A	T			TCGA-OL-A5RV-01A-12D-A28B-09	TCGA-OL-A5RV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	c44645c5-d31b-43ae-9786-7fc7742d0619	c9a00734-ddab-4cdc-9fa2-614e08118842	g.chrX:47775907A>T	ENST00000376954.1	+	6	2230	c.1862A>T	c.(1861-1863)gAt>gTt	p.D621V	ZNF81_ENST00000338637.7_Missense_Mutation_p.D621V			P51508	ZNF81_HUMAN	zinc finger protein 81	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GCCTTCACTGATAGGTCAAAT	0.403																																						dbGAP											0													55.0	57.0	56.0					X																	47775907		2152	4272	6424	-	-	-	SO:0001583	missense	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.1862A>T	X.37:g.47775907A>T	ENSP00000366153:p.Asp621Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6RX22|Q96QH6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D621V	ENST00000376954.1	37	c.1862	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	A	11.62	1.691856	0.30052	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.35048	1.33;1.33	4.21	4.21	0.49690	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45606	D	0.000342	T	0.39600	0.1084	L	0.34521	1.04	0.09310	N	1	D	0.65815	0.995	P	0.61070	0.883	T	0.15954	-1.0419	10	0.15952	T	0.53	.	10.6667	0.45734	1.0:0.0:0.0:0.0	.	621	P51508	ZNF81_HUMAN	V	621	ENSP00000366153:D621V;ENSP00000341151:D621V	ENSP00000341151:D621V	D	+	2	0	ZNF81	47660851	0.000000	0.05858	0.993000	0.49108	0.970000	0.65996	0.413000	0.21148	1.881000	0.54492	0.417000	0.27973	GAT	ZNF81	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197779		0.403	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	75	0.00	0	A	NM_007137		47775907	47775907	+1	no_errors	ENST00000338637	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	0.011	T
