#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
ATP4A	495	genome.wustl.edu	37	19	36051382	36051382	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr19:36051382C>T	ENST00000262623.3	-	6	698	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	224					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GAGTTGTCCACCTTGCAGCCC	0.642																																						dbGAP											0													74.0	70.0	71.0					19																	36051382		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.670G>A	19.37:g.36051382C>T	ENSP00000262623:p.Val224Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O00738	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.V224M	ENST00000262623.3	37	c.670	CCDS12467.1	19	.	.	.	.	.	.	.	.	.	.	c	24.9	4.587151	0.86851	.	.	ENSG00000105675	ENST00000262623	D	0.93076	-3.16	4.16	4.16	0.48862	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.56097	D	0.000024	D	0.97542	0.9195	H	0.95187	3.635	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	10	0.87932	D	0	.	14.3183	0.66468	0.0:1.0:0.0:0.0	.	224	P20648	ATP4A_HUMAN	M	224	ENSP00000262623:V224M	ENSP00000262623:V224M	V	-	1	0	ATP4A	40743222	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.606000	0.82863	2.314000	0.78098	0.486000	0.48141	GTG	ATP4A	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000105675		0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	150	0.00	0	C	NM_000704		36051382	36051382	-1	no_errors	ENST00000262623	ensembl	human	known	69_37n	missense	75	45.65	63	SNP	1.000	T
C1orf86	199990	genome.wustl.edu	37	1	2125495	2125495	+	Missense_Mutation	SNP	A	A	G	rs552206271		TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr1:2125495A>G	ENST00000378546.4	-	2	164	c.140T>C	c.(139-141)gTg>gCg	p.V47A	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.V150A|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	47					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCGGGCTCACCGTGCGCAG	0.667													A|||	1	0.000199681	0.0	0.0	5008	,	,		10624	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	47.0	45.0					1																	2125495		2200	4299	6499	-	-	-	SO:0001583	missense	0			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.140T>C	1.37:g.2125495A>G	ENSP00000367808:p.Val47Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	NULL	p.V150A	ENST00000378546.4	37	c.449	CCDS38.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.70|10.70	1.423242|1.423242	0.25639|0.25639	.|.	.|.	ENSG00000162585|ENSG00000162585	ENST00000400918;ENST00000378546;ENST00000378545|ENST00000420515	T;T;T|.	0.61627|.	0.22;0.15;0.09|.	3.65|3.65	-7.3|-7.3	0.01446|0.01446	.|.	1.768030|.	0.03599|.	N|.	0.233050|.	T|.	0.15176|.	0.0366|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.17038|.	0.02|.	B|.	0.15484|.	0.013|.	T|.	0.21143|.	-1.0254|.	9|.	0.15952|.	T|.	0.53|.	-4.9994|-4.9994	1.0843|1.0843	0.01649|0.01649	0.3233:0.2769:0.263:0.1368|0.3233:0.2769:0.263:0.1368	.|.	47|.	Q6NZ36|.	CA086_HUMAN|.	A|R	47;47;150|47	ENSP00000383709:V47A;ENSP00000367808:V47A;ENSP00000367807:V150A|.	ENSP00000367807:V150A|.	V|X	-|-	2|1	0|0	C1orf86|C1orf86	2115355|2115355	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.466000|0.466000	0.32739|0.32739	-1.464000|-1.464000	0.02359|0.02359	-1.687000|-1.687000	0.01437|0.01437	0.379000|0.379000	0.24179|0.24179	GTG|TGA	C1orf86	-	NULL	ENSG00000162585		0.667	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	C1orf86	HGNC	protein_coding	OTTHUMT00000316541.1	18	0.00	0	A	NM_182533		2125495	2125495	-1	no_errors	ENST00000378545	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.000	G
CCP110	9738	genome.wustl.edu	37	16	19554266	19554266	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr16:19554266C>A	ENST00000381396.5	+	8	2681	c.2434C>A	c.(2434-2436)Cgt>Agt	p.R812S	CCP110_ENST00000396212.2_Missense_Mutation_p.R812S|CCP110_ENST00000396208.2_Missense_Mutation_p.R812S	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	812	Calmodulin-binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATTTCTTACTCGTAGACTTAT	0.343																																						dbGAP											0													101.0	101.0	101.0					16																	19554266		2196	4300	6496	-	-	-	SO:0001583	missense	0			AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.2434C>A	16.37:g.19554266C>A	ENSP00000370803:p.Arg812Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	NULL	p.R812S	ENST00000381396.5	37	c.2434	CCDS55992.1	16	.	.	.	.	.	.	.	.	.	.	C	24.8	4.569365	0.86439	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.65178	-0.13;-0.14;-0.13	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	M	0.81497	2.545	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.83322	-0.0017	10	0.87932	D	0	-19.4117	19.7559	0.96291	0.0:1.0:0.0:0.0	.	812;812	O43303;O43303-2	CP110_HUMAN;.	S	812	ENSP00000379515:R812S;ENSP00000370803:R812S;ENSP00000379511:R812S	ENSP00000370803:R812S	R	+	1	0	CCP110	19461767	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	6.034000	0.70933	2.656000	0.90262	0.655000	0.94253	CGT	CCP110	-	NULL	ENSG00000103540		0.343	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCP110	HGNC	protein_coding	OTTHUMT00000254284.2	481	0.21	1	C	NM_014711		19554266	19554266	+1	no_errors	ENST00000381396	ensembl	human	known	69_37n	missense	580	10.77	70	SNP	1.000	A
CD68	968	genome.wustl.edu	37	17	7484092	7484092	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr17:7484092C>G	ENST00000250092.6	+	4	962	c.751C>G	c.(751-753)Cac>Gac	p.H251D	SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000250124.6_5'Flank|CD68_ENST00000380498.6_Missense_Mutation_p.H224D|MPDU1_ENST00000582151.1_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA|AC113189.5_ENST00000573187.1_RNA|AC113189.5_ENST00000572046.1_RNA|AC113189.5_ENST00000415124.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	251					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						GTCCTTCCCCCACGCAGCACG	0.567																																						dbGAP											0													109.0	90.0	96.0					17																	7484092		2203	4300	6503	-	-	-	SO:0001583	missense	0			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.751C>G	17.37:g.7484092C>G	ENSP00000250092:p.His251Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop	p.H251D	ENST00000250092.6	37	c.751	CCDS11114.1	17	.	.	.	.	.	.	.	.	.	.	C	9.310	1.055221	0.19907	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.24908	1.83	5.16	-1.18	0.09617	.	1.352850	0.04792	N	0.431786	T	0.10981	0.0268	N	0.02916	-0.46	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.14578	0.011;0.011	T	0.29058	-1.0024	10	0.28530	T	0.3	1.74	7.0307	0.24965	0.6406:0.2667:0.0:0.0927	.	251;224	P34810;B4DVT4	CD68_HUMAN;.	D	251;194	ENSP00000250092:H251D	ENSP00000250092:H251D	H	+	1	0	CD68	7424816	0.000000	0.05858	0.014000	0.15608	0.125000	0.20455	0.421000	0.21280	-0.010000	0.14271	-0.169000	0.13324	CAC	CD68	-	pfam_Lysosome-assoc_membr_glycop	ENSG00000129226		0.567	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD68	HGNC	protein_coding	OTTHUMT00000226949.3	105	0.00	0	C	NM_001251		7484092	7484092	+1	no_errors	ENST00000250092	ensembl	human	known	69_37n	missense	62	45.13	51	SNP	0.000	G
CDH8	1006	genome.wustl.edu	37	16	61689592	61689592	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr16:61689592C>G	ENST00000577390.1	-	11	2642	c.1688G>C	c.(1687-1689)gGa>gCa	p.G563A	CDH8_ENST00000299345.6_Missense_Mutation_p.G563A|CDH8_ENST00000577730.1_Missense_Mutation_p.G563A	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCGGTTGAATCCATTATGCTT	0.358																																						dbGAP											0													108.0	102.0	104.0					16																	61689592		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1688G>C	16.37:g.61689592C>G	ENSP00000462701:p.Gly563Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G563A	ENST00000577390.1	37	c.1688	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539003	0.65085	.	.	ENSG00000150394	ENST00000299345	T	0.58060	0.36	5.63	4.67	0.58626	Cadherin (4);Cadherin-like (1);	0.199693	0.43110	D	0.000607	T	0.65249	0.2673	L	0.55743	1.74	0.80722	D	1	P	0.51147	0.942	P	0.60068	0.868	T	0.68334	-0.5436	10	0.66056	D	0.02	.	14.9914	0.71390	0.1436:0.8564:0.0:0.0	.	563	P55286	CADH8_HUMAN	A	563	ENSP00000299345:G563A	ENSP00000299345:G563A	G	-	2	0	CDH8	60247093	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.019000	0.49635	1.366000	0.46076	-0.195000	0.12781	GGA	CDH8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150394		0.358	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	306	0.00	0	C	NM_001796		61689592	61689592	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	missense	136	11.11	17	SNP	1.000	G
CLIP1	6249	genome.wustl.edu	37	12	122825568	122825568	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr12:122825568A>G	ENST00000540338.1	-	10	2224	c.2183T>C	c.(2182-2184)aTg>aCg	p.M728T	CLIP1_ENST00000361654.4_Missense_Mutation_p.M682T|CLIP1_ENST00000545889.1_Missense_Mutation_p.M418T|CLIP1_ENST00000537178.1_Missense_Mutation_p.M682T|CLIP1_ENST00000302528.7_Missense_Mutation_p.M717T|CLIP1_ENST00000358808.2_Missense_Mutation_p.M717T			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	728					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CGTGTCTTCCATTTCTACGAG	0.388																																						dbGAP											0													271.0	267.0	269.0					12																	122825568		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.2183T>C	12.37:g.122825568A>G	ENSP00000439093:p.Met728Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain	p.M728T	ENST00000540338.1	37	c.2183	CCDS58285.1	12	.	.	.	.	.	.	.	.	.	.	A	21.4	4.145096	0.77888	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.62364	2.64;0.65;0.65;0.52;0.58;0.03	5.87	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	M	0.70275	2.135	0.58432	D	0.999991	P;D;D;P	0.60160	0.763;0.987;0.987;0.873	B;D;D;P	0.63283	0.311;0.913;0.913;0.597	T	0.70403	-0.4881	10	0.20519	T	0.43	-21.4377	12.6351	0.56679	0.8758:0.0:0.0:0.1242	.	418;682;717;728	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	T	418;717;717;562;682;728;651	ENSP00000438743:M418T;ENSP00000303585:M717T;ENSP00000351665:M717T;ENSP00000445531:M682T;ENSP00000439093:M728T;ENSP00000437786:M651T	ENSP00000303585:M717T	M	-	2	0	CLIP1	121391521	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.910000	0.92685	1.126000	0.42016	0.533000	0.62120	ATG	CLIP1	-	NULL	ENSG00000130779		0.388	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLIP1	HGNC	protein_coding	OTTHUMT00000401625.1	424	0.00	0	A	NM_002956		122825568	122825568	-1	no_errors	ENST00000540338	ensembl	human	known	69_37n	missense	178	45.26	148	SNP	1.000	G
CLYBL	171425	genome.wustl.edu	37	13	100518497	100518497	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr13:100518497C>G	ENST00000376360.1	+	6	665	c.638C>G	c.(637-639)gCa>gGa	p.A213G	CLYBL_ENST00000376354.1_Missense_Mutation_p.A179G|CLYBL_ENST00000339105.4_Missense_Mutation_p.A213G|CLYBL_ENST00000444838.2_Missense_Mutation_p.A179G|CLYBL_ENST00000376355.3_Missense_Mutation_p.A179G			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	213						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCAGGTGCAACAAGTAGT	0.398																																						dbGAP											0													81.0	87.0	85.0					13																	100518497		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.638C>G	13.37:g.100518497C>G	ENSP00000365538:p.Ala213Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5W0F7|Q8TDH8	Missense_Mutation	SNP	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta	p.A213G	ENST00000376360.1	37	c.638	CCDS32002.1	13	.	.	.	.	.	.	.	.	.	.	C	18.92	3.726578	0.69074	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.75	5.75	0.90469	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.090600	0.85682	D	0.000000	T	0.33352	0.0860	N	0.25245	0.725	0.80722	D	1	B;B	0.28470	0.213;0.208	B;B	0.41036	0.346;0.327	T	0.14643	-1.0465	10	0.51188	T	0.08	-13.0553	18.4922	0.90852	0.0:1.0:0.0:0.0	.	179;213	B4DU60;Q8N0X4	.;CLYBL_HUMAN	G	179;213;179;179;213	ENSP00000365533:A179G;ENSP00000365538:A213G;ENSP00000404768:A179G;ENSP00000365532:A179G;ENSP00000342991:A213G	ENSP00000342991:A213G	A	+	2	0	CLYBL	99316498	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.334000	0.79224	2.866000	0.98385	0.650000	0.86243	GCA	CLYBL	-	pfam_Aldehyde-lyase_domain,superfamily_Pyrv/PenolPyrv_Kinase,pirsf_Citrate_lyase_beta	ENSG00000125246		0.398	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLYBL	HGNC	protein_coding	OTTHUMT00000045611.1	131	0.00	0	C			100518497	100518497	+1	no_errors	ENST00000339105	ensembl	human	known	69_37n	missense	44	66.92	89	SNP	1.000	G
CPT1A	1374	genome.wustl.edu	37	11	68579905	68579905	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr11:68579905G>A	ENST00000265641.5	-	3	435	c.281C>T	c.(280-282)gCc>gTc	p.A94V	CPT1A_ENST00000376618.2_Splice_Site_p.A94V|CPT1A_ENST00000540367.1_Splice_Site_p.A94V|CPT1A_ENST00000539743.1_Splice_Site_p.A94V	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	94					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)	GATTACTTACGCCGTTTCCAG	0.428																																						dbGAP											0													164.0	154.0	157.0					11																	68579905		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			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.281+1C>T	11.37:g.68579905G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.A94V	ENST00000265641.5	37	c.281	CCDS8185.1	11	.	.	.	.	.	.	.	.	.	.	G	8.845	0.943301	0.18281	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.59	2.62	0.31277	.	0.365309	0.31199	N	0.008076	T	0.57504	0.2058	N	0.14661	0.345	0.25264	N	0.989574	B;B;B	0.26672	0.054;0.054;0.156	B;B;B	0.25987	0.03;0.03;0.065	T	0.42749	-0.9433	9	.	.	.	.	8.6492	0.34025	0.0882:0.1513:0.7606:0.0	.	94;94;94	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	V	94	ENSP00000439084:A94V;ENSP00000365803:A94V;ENSP00000265641:A94V;ENSP00000446108:A94V	.	A	-	2	0	CPT1A	68336481	0.638000	0.27225	0.772000	0.31596	0.071000	0.16799	0.923000	0.28757	0.483000	0.27608	0.561000	0.74099	GCC	CPT1A	-	NULL	ENSG00000110090		0.428	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPT1A	HGNC	protein_coding	OTTHUMT00000397457.2	228	0.44	1	G	NM_001876	Missense_Mutation	68579905	68579905	-1	no_errors	ENST00000265641	ensembl	human	known	69_37n	missense	127	23.49	39	SNP	0.984	A
CUL5	8065	genome.wustl.edu	37	11	107925435	107925435	+	Silent	SNP	A	A	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr11:107925435A>G	ENST00000393094.2	+	6	1231	c.615A>G	c.(613-615)gcA>gcG	p.A205A		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	205					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TTGAGAAGGCATACTTGGATT	0.303																																						dbGAP											0													48.0	51.0	50.0					11																	107925435		2197	4292	6489	-	-	-	SO:0001819	synonymous_variant	0			X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.615A>G	11.37:g.107925435A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.I102V	ENST00000393094.2	37	c.304	CCDS31668.1	11	.	.	.	.	.	.	.	.	.	.	A	9.920	1.211815	0.22289	.	.	ENSG00000166266	ENST00000532782	.	.	.	6.02	3.74	0.42951	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50915	-0.8771	4	.	.	.	-14.9741	6.0641	0.19854	0.7237:0.1379:0.1384:0.0	.	.	.	.	V	102	.	.	I	+	1	0	CUL5	107430645	0.958000	0.32768	1.000000	0.80357	0.999000	0.98932	0.257000	0.18369	1.105000	0.41606	0.533000	0.62120	ATA	CUL5	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000166266		0.303	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL5	HGNC	protein_coding	OTTHUMT00000389429.1	194	0.00	0	A			107925435	107925435	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000532782	ensembl	human	novel	69_37n	missense	39	56.18	50	SNP	0.999	G
DCC	1630	genome.wustl.edu	37	18	50432563	50432563	+	Silent	SNP	C	C	A			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr18:50432563C>A	ENST00000442544.2	+	3	1178	c.562C>A	c.(562-564)Cga>Aga	p.R188R	DCC_ENST00000412726.1_Silent_p.R36R	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	188	Ig-like C2-type 2.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R188*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGGTGACTCCCGAGTGGTGGT	0.542																																						dbGAP											1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											85.0	76.0	79.0					18																	50432563		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.562C>A	18.37:g.50432563C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R188	ENST00000442544.2	37	c.562	CCDS11952.1	18																																																																																			DCC	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000187323		0.542	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	181	0.00	0	C	NM_005215		50432563	50432563	+1	no_errors	ENST00000442544	ensembl	human	known	69_37n	silent	97	40.49	66	SNP	0.991	A
GNMT	27232	genome.wustl.edu	37	6	42931381	42931381	+	Silent	SNP	T	T	C			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr6:42931381T>C	ENST00000372808.3	+	6	835	c.825T>C	c.(823-825)ccT>ccC	p.P275P		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	275					cellular protein modification process (GO:0006464)|glycogen metabolic process (GO:0005977)|methionine metabolic process (GO:0006555)|one-carbon metabolic process (GO:0006730)|protein homotetramerization (GO:0051289)|regulation of gluconeogenesis (GO:0006111)|S-adenosylmethionine metabolic process (GO:0046500)	cytoplasm (GO:0005737)	folic acid binding (GO:0005542)|glycine binding (GO:0016594)|glycine N-methyltransferase activity (GO:0017174)			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	ACTTCAAGCCTTACAAGCCAG	0.587																																						dbGAP											0													136.0	104.0	115.0					6																	42931381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF101475	CCDS4876.1	6p12	2008-02-05			ENSG00000124713	ENSG00000124713			4415	protein-coding gene	gene with protein product		606628				10843803, 9495250	Standard	NM_018960		Approved		uc003otd.3	Q14749	OTTHUMG00000014712	ENST00000372808.3:c.825T>C	6.37:g.42931381T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T8W2|Q9NNZ1|Q9NS24	Silent	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pirsf_Gly/Sar_N_MeTrfase	p.P275	ENST00000372808.3	37	c.825	CCDS4876.1	6																																																																																			GNMT	-	pirsf_Gly/Sar_N_MeTrfase	ENSG00000124713		0.587	GNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNMT	HGNC	protein_coding	OTTHUMT00000040568.1	151	0.00	0	T	NM_018960		42931381	42931381	+1	no_errors	ENST00000372808	ensembl	human	known	69_37n	silent	105	14.63	18	SNP	0.649	C
HECW2	57520	genome.wustl.edu	37	2	197171902	197171902	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr2:197171902C>T	ENST00000260983.3	-	12	2823	c.2641G>A	c.(2641-2643)Gct>Act	p.A881T	HECW2_ENST00000409111.1_Missense_Mutation_p.A525T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	881	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCATCAATAGCATTGGTATTT	0.428																																						dbGAP											0													143.0	124.0	130.0					2																	197171902		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2641G>A	2.37:g.197171902C>T	ENSP00000260983:p.Ala881Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.A881T	ENST00000260983.3	37	c.2641	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526925	0.27299	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84146	-1.81;-1.81	5.39	2.64	0.31445	.	0.320718	0.32987	N	0.005405	T	0.67316	0.2880	N	0.12182	0.205	0.20821	N	0.999848	B	0.32245	0.361	B	0.30646	0.118	T	0.55761	-0.8090	10	0.28530	T	0.3	.	5.8538	0.18708	0.0:0.5369:0.2458:0.2173	.	881	Q9P2P5	HECW2_HUMAN	T	525;881	ENSP00000386775:A525T;ENSP00000260983:A881T	ENSP00000260983:A881T	A	-	1	0	HECW2	196880147	0.036000	0.19791	0.007000	0.13788	0.788000	0.44548	0.553000	0.23391	0.413000	0.25759	0.555000	0.69702	GCT	HECW2	-	NULL	ENSG00000138411		0.428	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	290	0.00	0	C	NM_020760		197171902	197171902	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	124	48.56	118	SNP	0.201	T
IFNG	3458	genome.wustl.edu	37	12	68552013	68552013	+	Silent	SNP	A	A	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr12:68552013A>G	ENST00000229135.3	-	2	272	c.141T>C	c.(139-141)gaT>gaC	p.D47D	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	47					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	GAGTTCCATTATCCGCTACAT	0.308																																						dbGAP											0													87.0	86.0	87.0					12																	68552013		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.141T>C	12.37:g.68552013A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B5BU88|Q53ZV4	Silent	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.D47	ENST00000229135.3	37	c.141	CCDS8980.1	12																																																																																			IFNG	-	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	ENSG00000111537		0.308	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	339	0.00	0	A			68552013	68552013	-1	no_errors	ENST00000229135	ensembl	human	known	69_37n	silent	128	46.47	112	SNP	0.000	G
MAP3K1	4214	genome.wustl.edu	37	5	56177058	56177059	+	Frame_Shift_Ins	INS	-	-	GTCA	rs375508504		TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr5:56177058_56177059insGTCA	ENST00000399503.3	+	13	2328_2329	c.2328_2329insGTCA	c.(2329-2331)gtcfs	p.-778fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase						activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)	p.I613I(1)|p.I776I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATCCTCATATTGTCAGTACTGA	0.386																																						dbGAP											2	Substitution - coding silent(2)	endometrium(2)																																								-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2329_2332dupGTCA	5.37:g.56177059_56177062dupGTCA	ENSP00000382423:p.Ser778fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.T778fs	ENST00000399503.3	37	c.2328_2329	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.386	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	642	0.00	0	-	XM_042066		56177058	56177059	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	485	29.40	202	INS	0.997:1.000	GTCA
MDGA2	161357	genome.wustl.edu	37	14	47389322	47389322	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr14:47389322G>T	ENST00000399232.2	-	10	2288	c.1924C>A	c.(1924-1926)Cca>Aca	p.P642T	MDGA2_ENST00000357362.3_Missense_Mutation_p.P413T|MDGA2_ENST00000439988.3_Missense_Mutation_p.P711T|MDGA2_ENST00000426342.1_Missense_Mutation_p.P413T	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	642	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGCCATACTGGATTGTAGGTA	0.403																																						dbGAP											0													156.0	147.0	150.0					14																	47389322		1890	4115	6005	-	-	-	SO:0001583	missense	0			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1924C>A	14.37:g.47389322G>T	ENSP00000382178:p.Pro642Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.P711T	ENST00000399232.2	37	c.2131		14	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524333	0.44969	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.39	5.39	0.77823	.	0.000000	0.51477	U	0.000089	T	0.63663	0.2530	L	0.52573	1.65	0.80722	D	1	D;D	0.61697	0.99;0.983	D;P	0.72625	0.978;0.792	T	0.62378	-0.6867	10	0.51188	T	0.08	.	17.0165	0.86421	0.0:0.0:1.0:0.0	.	413;642	F6W3S7;Q7Z553	.;MDGA2_HUMAN	T	642;413;711;413	ENSP00000400011:P642T;ENSP00000405456:P413T;ENSP00000382178:P711T;ENSP00000349925:P413T	ENSP00000349925:P413T	P	-	1	0	MDGA2	46459072	1.000000	0.71417	0.955000	0.39395	0.792000	0.44763	7.071000	0.76770	2.699000	0.92147	0.591000	0.81541	CCA	MDGA2	-	NULL	ENSG00000139915		0.403	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	310	0.64	2	G	NM_182830		47389322	47389322	-1	no_errors	ENST00000399232	ensembl	human	known	69_37n	missense	208	17.46	44	SNP	1.000	T
MGAM	8972	genome.wustl.edu	37	7	141721528	141721528	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr7:141721528A>G	ENST00000549489.2	+	6	796	c.701A>G	c.(700-702)aAt>aGt	p.N234S	MGAM_ENST00000475668.2_Missense_Mutation_p.N234S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	234	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGAAGCAACAATCGTGTTTTG	0.433																																						dbGAP											0													146.0	136.0	139.0					7																	141721528		1913	4116	6029	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.701A>G	7.37:g.141721528A>G	ENSP00000447378:p.Asn234Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.N234S	ENST00000549489.2	37	c.701	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855730	0.32791	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	T	0.81247	-1.47	5.65	1.8	0.24995	Glycoside hydrolase-type carbohydrate-binding (1);	0.810184	0.10923	N	0.619211	T	0.69468	0.3114	L	0.39566	1.225	0.09310	N	0.999998	B	0.09022	0.002	B	0.09377	0.004	T	0.56896	-0.7903	10	0.46703	T	0.11	.	4.3502	0.11151	0.5273:0.1688:0.3039:0.0	.	234	O43451	MGA_HUMAN	S	234;234;111	ENSP00000447378:N234S	ENSP00000316431:N111S	N	+	2	0	MGAM	141367997	0.016000	0.18221	0.099000	0.21106	0.997000	0.91878	1.296000	0.33389	0.144000	0.18951	0.533000	0.62120	AAT	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	319	0.00	0	A			141721528	141721528	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	92	58.74	131	SNP	0.248	G
KMT2C	58508	genome.wustl.edu	37	7	151845844	151845844	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr7:151845844delG	ENST00000262189.6	-	52	13386	c.13168delC	c.(13168-13170)cttfs	p.L4390fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.L4447fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4390					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TCAGGTTTAAGGGAAGTGCCC	0.413																																						dbGAP											0													82.0	77.0	79.0					7																	151845844		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13168delC	7.37:g.151845844delG	ENSP00000262189:p.Leu4390fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K4448fs	ENST00000262189.6	37	c.13339	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.413	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	185	0.00	0	G			151845844	151845844	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	73	42.75	59	DEL	1.000	-
NAV2	89797	genome.wustl.edu	37	11	19955784	19955784	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr11:19955784A>G	ENST00000396087.3	+	8	2162	c.2063A>G	c.(2062-2064)aAc>aGc	p.N688S	NAV2_ENST00000360655.4_Missense_Mutation_p.N601S|NAV2_ENST00000540292.1_Missense_Mutation_p.N619S|NAV2_ENST00000396085.1_Missense_Mutation_p.N665S|NAV2_ENST00000349880.4_Missense_Mutation_p.N665S|NAV2_ENST00000527559.2_Missense_Mutation_p.N617S	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	688					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CAGCAATACAACCATCCCAAC	0.552																																						dbGAP											0													90.0	91.0	91.0					11																	19955784		2199	4293	6492	-	-	-	SO:0001583	missense	0			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2063A>G	11.37:g.19955784A>G	ENSP00000379396:p.Asn688Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.N688S	ENST00000396087.3	37	c.2063	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	A	2.324	-0.354955	0.05138	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55;2.55	5.52	-9.34	0.00636	.	0.706577	0.14103	N	0.341244	T	0.06050	0.0157	N	0.17474	0.49	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.37619	-0.9698	9	.	.	.	.	13.4194	0.60987	0.1654:0.2791:0.5555:0.0	.	665;601	Q8IVL1-3;Q8IVL1-4	.;.	S	601;665;665;688;617;619	ENSP00000353871:N601S;ENSP00000379394:N665S;ENSP00000309577:N665S;ENSP00000379396:N688S;ENSP00000435395:N617S;ENSP00000443489:N619S	.	N	+	2	0	NAV2	19912360	0.019000	0.18553	0.405000	0.26409	0.993000	0.82548	-0.643000	0.05421	-2.397000	0.00581	-0.460000	0.05396	AAC	NAV2	-	NULL	ENSG00000166833		0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	135	0.00	0	A	NM_145117		19955784	19955784	+1	no_errors	ENST00000396087	ensembl	human	known	69_37n	missense	56	54.10	66	SNP	0.594	G
NT5C1B	93034	genome.wustl.edu	37	2	18767558	18767558	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr2:18767558A>T	ENST00000359846.2	-	4	477	c.400T>A	c.(400-402)Tcc>Acc	p.S134T	NT5C1B_ENST00000600945.1_Missense_Mutation_p.S134T|NT5C1B_ENST00000304081.4_Missense_Mutation_p.S74T|RNU6-1215P_ENST00000384441.1_RNA|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S134T	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	134	Ser-rich.				nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCATCTATGGATGGAGCCTTG	0.453																																						dbGAP											0													154.0	141.0	145.0					2																	18767558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.400T>A	2.37:g.18767558A>T	ENSP00000352904:p.Ser134Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Missense_Mutation	SNP	pfam_5-nucleotidase	p.S134T	ENST00000359846.2	37	c.400	CCDS33150.1	2	.	.	.	.	.	.	.	.	.	.	A	10.65	1.408837	0.25378	.	.	ENSG00000250741;ENSG00000250741;ENSG00000185013;ENSG00000185013;ENSG00000185013	ENST00000532967;ENST00000444297;ENST00000304081;ENST00000359846;ENST00000416783	D	0.91464	-2.85	4.04	2.86	0.33363	.	0.633338	0.14635	N	0.307578	D	0.90099	0.6907	L	0.32530	0.975	0.09310	N	1	P;D;P;P;P;P;P;D	0.54964	0.917;0.969;0.799;0.917;0.956;0.873;0.935;0.962	B;P;B;B;P;B;B;P	0.62184	0.326;0.536;0.183;0.326;0.899;0.34;0.428;0.631	T	0.80734	-0.1250	10	0.72032	D	0.01	-22.3311	6.8361	0.23937	0.7937:0.0:0.0:0.2063	.	117;151;74;117;74;74;134;134	E7EXB7;B4DZ86;B4DXQ9;B4DXZ9;C9J2C7;Q96P26-2;Q96P26;Q96P26-4	.;.;.;.;.;.;5NT1B_HUMAN;.	T	134;74;74;134;151	ENSP00000412639:S74T	ENSP00000305979:S74T	S	-	1	0	NT5C1B-RDH14;NT5C1B	18631039	0.614000	0.27017	0.016000	0.15963	0.001000	0.01503	1.329000	0.33770	0.878000	0.35920	-0.336000	0.08194	TCC	NT5C1B	-	NULL	ENSG00000185013		0.453	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NT5C1B	HGNC	protein_coding	OTTHUMT00000323822.1	294	0.00	0	A			18767558	18767558	-1	no_errors	ENST00000359846	ensembl	human	known	69_37n	missense	153	26.67	56	SNP	0.019	T
PANK4	55229	genome.wustl.edu	37	1	2452259	2452259	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr1:2452259T>C	ENST00000378466.3	-	4	521	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PANK4_ENST00000435556.3_Missense_Mutation_p.Q131R|PANK4_ENST00000491212.1_5'Flank	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	170					coenzyme A biosynthetic process (GO:0015937)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGAATCCTTCTGGTACACGAA	0.527																																						dbGAP											0													133.0	133.0	133.0					1																	2452259		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001644	CCDS42.1	1p36.32	2008-02-05			ENSG00000157881	ENSG00000157881			19366	protein-coding gene	gene with protein product		606162				11479594	Standard	XR_241034		Approved	FLJ10782	uc001ajm.1	Q9NVE7	OTTHUMG00000000791	ENST00000378466.3:c.509A>G	1.37:g.2452259T>C	ENSP00000367727:p.Gln170Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5	Missense_Mutation	SNP	pfam_Type_II_PanK,pfam_DUF89,superfamily_DUF89,pirsf_PanK_long,tigrfam_Type_II_PanK	p.Q170R	ENST00000378466.3	37	c.509	CCDS42.1	1	.	.	.	.	.	.	.	.	.	.	T	9.740	1.164534	0.21538	.	.	ENSG00000157881	ENST00000378466;ENST00000435556	D;D	0.99503	-6.03;-6.03	4.91	4.91	0.64330	.	0.338708	0.29431	N	0.012171	D	0.96710	0.8926	N	0.19112	0.55	0.36713	D	0.88077	P;P	0.41546	0.754;0.601	B;B	0.35971	0.215;0.215	D	0.97807	1.0248	10	0.29301	T	0.29	-34.2116	9.1902	0.37195	0.162:0.0:0.0:0.838	.	131;170	E9PHT6;Q9NVE7	.;PANK4_HUMAN	R	170;131	ENSP00000367727:Q170R;ENSP00000421433:Q131R	ENSP00000367727:Q170R	Q	-	2	0	PANK4	2442119	1.000000	0.71417	0.922000	0.36590	0.735000	0.41995	4.344000	0.59354	1.835000	0.53391	0.460000	0.39030	CAG	PANK4	-	pfam_Type_II_PanK,pirsf_PanK_long,tigrfam_Type_II_PanK	ENSG00000157881		0.527	PANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PANK4	HGNC	protein_coding	OTTHUMT00000002082.1	329	0.00	0	T			2452259	2452259	-1	no_errors	ENST00000378466	ensembl	human	known	69_37n	missense	180	25.93	63	SNP	1.000	C
PCDHA1	56147	genome.wustl.edu	37	5	140167950	140167950	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr5:140167950C>T	ENST00000504120.2	+	1	2075	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	PCDHA1_ENST00000378133.3_Missense_Mutation_p.A692V|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	692					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGAGGCGGCGCTGGTGGAT	0.662																																						dbGAP											0													48.0	49.0	49.0					5																	140167950		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.2075C>T	5.37:g.140167950C>T	ENSP00000420840:p.Ala692Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75288|Q9NRT7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A692V	ENST00000504120.2	37	c.2075	CCDS54913.1	5	.	.	.	.	.	.	.	.	.	.	c	12.48	1.951855	0.34471	.	.	ENSG00000204970	ENST00000504120;ENST00000378133	T;T	0.52754	0.65;0.65	3.78	1.81	0.25067	.	0.753048	0.10714	N	0.642506	T	0.43144	0.1234	M	0.73217	2.22	0.09310	N	1	B;B	0.20988	0.05;0.021	B;B	0.12837	0.004;0.008	T	0.38993	-0.9635	10	0.44086	T	0.13	.	5.2387	0.15460	0.1991:0.6823:0.0:0.1186	.	692;692	Q9Y5I3;Q9Y5I3-3	PCDA1_HUMAN;.	V	692	ENSP00000420840:A692V;ENSP00000367373:A692V	ENSP00000367373:A692V	A	+	2	0	PCDHA1	140148134	0.000000	0.05858	0.005000	0.12908	0.088000	0.18126	-0.093000	0.11111	0.713000	0.32060	-0.133000	0.14855	GCG	PCDHA1	-	NULL	ENSG00000204970		0.662	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	47	0.00	0	C	NM_018900		140167950	140167950	+1	no_errors	ENST00000504120	ensembl	human	known	69_37n	missense	46	15.25	9	SNP	0.005	T
PCDHGB6	56100	genome.wustl.edu	37	5	140789281	140789281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr5:140789281C>G	ENST00000520790.1	+	1	1512	c.1512C>G	c.(1510-1512)taC>taG	p.Y504*	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGTCATACGTGTCAGTGA	0.647																																						dbGAP											0													21.0	24.0	23.0					5																	140789281		2032	4185	6217	-	-	-	SO:0001587	stop_gained	0			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1512C>G	5.37:g.140789281C>G	ENSP00000428603:p.Tyr504*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9Y5C5	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y504*	ENST00000520790.1	37	c.1512	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	c	13.50	2.256908	0.39896	.	.	ENSG00000253305	ENST00000520790	.	.	.	5.36	0.343	0.16001	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.4109	0.55466	0.0:0.5552:0.0:0.4448	.	.	.	.	X	504	.	ENSP00000428603:Y504X	Y	+	3	2	PCDHGB6	140769465	0.001000	0.12720	0.979000	0.43373	0.016000	0.09150	-0.126000	0.10563	-0.218000	0.10018	-1.598000	0.00824	TAC	PCDHGB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000253305		0.647	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	31	0.00	0	C	NM_018926		140789281	140789281	+1	no_errors	ENST00000520790	ensembl	human	known	69_37n	nonsense	23	39.47	15	SNP	0.255	G
PRKAR1A	5573	genome.wustl.edu	37	17	66511561	66511561	+	Silent	SNP	C	C	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr17:66511561C>T	ENST00000589228.1	+	2	149	c.21C>T	c.(19-21)gcC>gcT	p.A7A	PRKAR1A_ENST00000536854.2_Silent_p.A7A|PRKAR1A_ENST00000358598.2_Silent_p.A7A|PRKAR1A_ENST00000588188.2_Silent_p.A7A|PRKAR1A_ENST00000586397.1_Silent_p.A7A|PRKAR1A_ENST00000392711.1_Silent_p.A7A	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	7	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cardiac muscle cell proliferation (GO:0060038)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|female meiotic division (GO:0007143)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sarcomere organization (GO:0045214)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					GCAGTACCGCCGCCAGTGAGG	0.453			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of																												Ovarian(167;637 1670 33025 39608 46699 51856)	dbGAP	yes	"""Dom, Rec"""	yes	Carney complex	17	17q23-q24	5573	"""protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1)"""		"""E, M"""	0													69.0	58.0	62.0					17																	66511561		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2;Carney syndrome, NAME syndrome, LAMB syndrome, Familial Myxoma syndrome;		CCDS11678.1, CCDS62307.1	17q24.2	2014-09-17	2012-07-31		ENSG00000108946	ENSG00000108946	2.7.11.1		9388	protein-coding gene	gene with protein product	"""Carney complex type 1"""	188830	"""tissue specific extinguisher 1"""	PRKAR1, TSE1		3479018, 10973256	Standard	NM_212471		Approved	CNC1	uc002jhg.4	P10644	OTTHUMG00000180128	ENST00000589228.1:c.21C>T	17.37:g.66511561C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	K7ER48|Q567S7	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.R7C	ENST00000589228.1	37	c.19	CCDS11678.1	17																																																																																			PRKAR1A	-	pirsf_cAMP_dep_PK_reg_su	ENSG00000108946		0.453	PRKAR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR1A	HGNC	protein_coding	OTTHUMT00000449884.1	155	0.00	0	C			66511561	66511561	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588188	ensembl	human	putative	69_37n	missense	98	38.75	62	SNP	0.983	T
PTCHD2	57540	genome.wustl.edu	37	1	11589972	11589972	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr1:11589972G>A	ENST00000294484.6	+	15	3196	c.3058G>A	c.(3058-3060)Gtc>Atc	p.V1020I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V1020I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1020					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CATTATTGGCGTCAACCGCAC	0.637																																						dbGAP											0													88.0	103.0	98.0					1																	11589972		1995	4167	6162	-	-	-	SO:0001583	missense	0			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.3058G>A	1.37:g.11589972G>A	ENSP00000294484:p.Val1020Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.V1020I	ENST00000294484.6	37	c.3058	CCDS41247.1	1	.	.	.	.	.	.	.	.	.	.	G	2.196	-0.384102	0.04966	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	D;D	0.89875	-2.58;-2.58	4.97	-7.99	0.01131	.	0.388052	0.21846	N	0.068246	T	0.68869	0.3048	N	0.12746	0.255	0.19300	N	0.999971	B	0.06786	0.001	B	0.04013	0.001	T	0.60214	-0.7307	10	0.17832	T	0.49	-12.739	7.3875	0.26891	0.2253:0.5131:0.2616:0.0	.	1020	Q9P2K9	PTHD2_HUMAN	I	1020	ENSP00000294484:V1020I;ENSP00000374226:V1020I	ENSP00000294484:V1020I	V	+	1	0	PTCHD2	11512559	1.000000	0.71417	0.458000	0.27068	0.252000	0.25951	2.084000	0.41625	-1.292000	0.02366	-1.326000	0.01283	GTC	PTCHD2	-	NULL	ENSG00000204624		0.637	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	133	0.00	0	G	XM_052561		11589972	11589972	+1	no_errors	ENST00000294484	ensembl	human	known	69_37n	missense	95	22.13	27	SNP	0.674	A
PVRL3	25945	genome.wustl.edu	37	3	110831214	110831214	+	Silent	SNP	G	G	C			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr3:110831214G>C	ENST00000485303.1	+	2	773	c.498G>C	c.(496-498)gtG>gtC	p.V166V	PVRL3_ENST00000319792.3_Silent_p.V166V|PVRL3_ENST00000493615.1_Silent_p.V143V	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	166					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CTGTAACTGTGTTAGGTAGGT	0.318																																						dbGAP											0													101.0	99.0	99.0					3																	110831214		2200	4299	6499	-	-	-	SO:0001819	synonymous_variant	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.498G>C	3.37:g.110831214G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.V166L	ENST00000485303.1	37	c.496	CCDS2957.1	3	.	.	.	.	.	.	.	.	.	.	G	8.827	0.939030	0.18281	.	.	ENSG00000177707	ENST00000486596	T	0.60299	0.2	5.76	-1.65	0.08291	.	0.000000	0.85682	D	0.000000	T	0.58018	0.2093	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55444	-0.8140	7	0.52906	T	0.07	.	7.2933	0.26378	0.2926:0.0:0.5734:0.134	.	.	.	.	L	166	ENSP00000417572:V166L	ENSP00000417572:V166L	V	+	1	0	PVRL3	112313904	0.035000	0.19736	0.989000	0.46669	0.983000	0.72400	0.243000	0.18106	-0.222000	0.09958	0.655000	0.94253	GTT	PVRL3	-	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub	ENSG00000177707		0.318	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	271	0.00	0	G	NM_015480		110831214	110831214	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000486596	ensembl	human	novel	69_37n	missense	141	33.49	71	SNP	0.993	C
SLAMF7	57823	genome.wustl.edu	37	1	160720169	160720169	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr1:160720169T>C	ENST00000368043.3	+	4	762	c.725T>C	c.(724-726)gTa>gCa	p.V242A	SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V135A|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V242A|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	242					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)			AGTCTCTTTGTACTGGGGCTA	0.493																																						dbGAP											0													254.0	241.0	245.0					1																	160720169		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.725T>C	1.37:g.160720169T>C	ENSP00000357022:p.Val242Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.V242A	ENST00000368043.3	37	c.725	CCDS1209.1	1	.	.	.	.	.	.	.	.	.	.	T	3.383	-0.125977	0.06795	.	.	ENSG00000026751	ENST00000368043;ENST00000368042;ENST00000359331	T;T;T	0.40756	1.02;1.02;1.02	4.91	-2.27	0.06846	.	4.420600	0.00710	N	0.000826	T	0.04724	0.0128	N	0.01209	-0.955	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.13872	-1.0493	10	0.14252	T	0.57	0.7319	9.4577	0.38764	0.0:0.4422:0.0:0.5578	.	148;135;242;242	B4DW98;Q9NQ25-2;A8K3U1;Q9NQ25	.;.;.;SLAF7_HUMAN	A	242;135;242	ENSP00000357022:V242A;ENSP00000357021:V135A;ENSP00000352281:V242A	ENSP00000352281:V242A	V	+	2	0	SLAMF7	158986793	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.185000	0.09684	-0.633000	0.05545	-0.280000	0.10049	GTA	SLAMF7	-	NULL	ENSG00000026751		0.493	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLAMF7	HGNC	protein_coding	OTTHUMT00000060464.1	839	0.12	1	T	NM_021181		160720169	160720169	+1	no_errors	ENST00000368043	ensembl	human	known	69_37n	missense	460	23.68	143	SNP	0.000	C
SLC9A4	389015	genome.wustl.edu	37	2	103141501	103141501	+	Frame_Shift_Del	DEL	T	T	-	rs4578881		TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr2:103141501delT	ENST00000295269.4	+	10	2294	c.1837delT	c.(1837-1839)tacfs	p.Y613fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	613					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTACAACAAATACAACCTCAA	0.478																																						dbGAP											0													195.0	209.0	205.0					2																	103141501		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.1837delT	2.37:g.103141501delT	ENSP00000295269:p.Tyr613fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YK0	Frame_Shift_Del	DEL	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.Y613fs	ENST00000295269.4	37	c.1837	CCDS33264.1	2																																																																																			SLC9A4	-	tigrfam_NaH_exchanger	ENSG00000180251		0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	195	0.00	0	T	NM_001011552.3		103141501	103141501	+1	no_errors	ENST00000295269	ensembl	human	known	69_37n	frame_shift_del	61	50.75	68	DEL	0.999	-
SYNE1	23345	genome.wustl.edu	37	6	152804248	152804248	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr6:152804248G>A	ENST00000367255.5	-	14	1923	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M	SYNE1_ENST00000448038.1_Missense_Mutation_p.T448M|SYNE1_ENST00000413186.2_Missense_Mutation_p.T441M|SYNE1_ENST00000341594.5_Missense_Mutation_p.T441M|SYNE1_ENST00000367253.4_Missense_Mutation_p.T441M|SYNE1_ENST00000367248.3_Missense_Mutation_p.T431M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T441M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T448M|SYNE1_ENST00000466159.2_Missense_Mutation_p.T441M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	441					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CCGTTGTATCGTGTTTGCTGT	0.502										HNSCC(10;0.0054)																												dbGAP											0													349.0	334.0	339.0					6																	152804248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1322C>T	6.37:g.152804248G>A	ENSP00000356224:p.Thr441Met	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.T441M	ENST00000367255.5	37	c.1322	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359474	0.61403	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	T;T;T;T;T;D;D;D;D;D	0.91237	0.72;0.72;0.63;0.71;0.81;-2.14;-2.3;-2.28;-2.59;-2.81	5.87	5.01	0.66863	.	0.103185	0.42682	D	0.000675	D	0.88422	0.6432	L	0.57536	1.79	0.80722	D	1	D;D;D;D;D	0.67145	0.996;0.962;0.99;0.962;0.978	P;P;P;P;P	0.54889	0.499;0.584;0.763;0.584;0.763	D	0.87609	0.2502	10	0.36615	T	0.2	.	9.6083	0.39648	0.2536:0.0:0.7464:0.0	.	424;441;441;441;448	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	M	441;448;441;448;441;441;431;441;441;424	ENSP00000356224:T441M;ENSP00000396024:T448M;ENSP00000265368:T441M;ENSP00000390975:T448M;ENSP00000341887:T441M;ENSP00000356222:T441M;ENSP00000356217:T431M;ENSP00000414510:T441M;ENSP00000446021:T441M;ENSP00000441264:T424M	ENSP00000265368:T441M	T	-	2	0	SYNE1	152845941	0.996000	0.38824	1.000000	0.80357	0.961000	0.63080	2.690000	0.47001	1.633000	0.50488	-0.137000	0.14449	ACG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1	ENSG00000131018		0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	720	0.00	0	G	NM_182961		152804248	152804248	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	missense	338	20.84	89	SNP	0.995	A
TMCO6	55374	genome.wustl.edu	37	5	140024286	140024286	+	Missense_Mutation	SNP	T	T	G			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr5:140024286T>G	ENST00000394671.3	+	11	1430	c.1329T>G	c.(1327-1329)agT>agG	p.S443R	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000252100.6_Missense_Mutation_p.S449R|TMCO6_ENST00000537378.1_Missense_Mutation_p.S203R	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	443					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGCCAGAGTTTGGAGCTGC	0.567																																						dbGAP											0													173.0	168.0	169.0					5																	140024286		1988	4177	6165	-	-	-	SO:0001583	missense	0			BC001910	CCDS4233.2, CCDS75320.1	5q31.3	2008-11-06			ENSG00000113119	ENSG00000113119			28814	protein-coding gene	gene with protein product						12477932	Standard	XM_005268476		Approved	FLJ39769, PRO1580	uc003lgl.3	Q96DC7	OTTHUMG00000129497	ENST00000394671.3:c.1329T>G	5.37:g.140024286T>G	ENSP00000378166:p.Ser443Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUU0|Q9P198	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB	p.S449R	ENST00000394671.3	37	c.1347	CCDS4233.2	5	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699353	0.68501	.	.	ENSG00000113119	ENST00000394671;ENST00000537378;ENST00000252100	T;T;T	0.77877	-1.13;-1.13;-1.13	6.03	2.45	0.29901	Armadillo-like helical (1);Armadillo-type fold (1);	0.058597	0.64402	D	0.000004	T	0.78285	0.4259	L	0.34521	1.04	0.40322	D	0.978834	D;D	0.76494	0.999;0.999	D;D	0.71656	0.974;0.952	T	0.76583	-0.2906	10	0.59425	D	0.04	-1.5991	7.323	0.26539	0.0:0.4214:0.0:0.5786	.	449;443	Q96DC7-2;Q96DC7	.;TMCO6_HUMAN	R	443;203;449	ENSP00000378166:S443R;ENSP00000444474:S203R;ENSP00000252100:S449R	ENSP00000252100:S449R	S	+	3	2	TMCO6	140004470	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.658000	0.24979	0.541000	0.28827	0.533000	0.62120	AGT	TMCO6	-	superfamily_ARM-type_fold	ENSG00000113119		0.567	TMCO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO6	HGNC	protein_coding	OTTHUMT00000251666.2	116	0.85	1	T	NM_018502		140024286	140024286	+1	no_errors	ENST00000252100	ensembl	human	known	69_37n	missense	79	35.77	44	SNP	1.000	G
TULP4	56995	genome.wustl.edu	37	6	158922767	158922767	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr6:158922767T>C	ENST00000367097.3	+	13	3429	c.2072T>C	c.(2071-2073)aTt>aCt	p.I691T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	691					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACATCCCTATTGCACCGATC	0.522																																						dbGAP											0													130.0	114.0	119.0					6																	158922767		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.2072T>C	6.37:g.158922767T>C	ENSP00000356064:p.Ile691Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I691T	ENST00000367097.3	37	c.2072	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854335	0.91355	.	.	ENSG00000130338	ENST00000367097	T	0.69175	-0.38	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.79242	-0.1884	10	0.87932	D	0	-26.7153	16.0357	0.80628	0.0:0.0:0.0:1.0	.	691	Q9NRJ4	TULP4_HUMAN	T	691	ENSP00000356064:I691T	ENSP00000356064:I691T	I	+	2	0	TULP4	158842755	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	7.476000	0.81055	2.192000	0.70111	0.528000	0.53228	ATT	TULP4	-	NULL	ENSG00000130338		0.522	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	132	0.00	0	T	NM_020245		158922767	158922767	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	missense	76	24.00	24	SNP	0.769	C
ZIC5	85416	genome.wustl.edu	37	13	100617886	100617886	+	Silent	SNP	C	C	T			TCGA-BH-A18N-01A-11D-A12B-09	TCGA-BH-A18N-11A-43D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	13c38ac4-c410-4602-83e3-9b80b4f93839	a8974cdc-5625-4575-80de-2fcd0671a693	g.chr13:100617886C>T	ENST00000267294.4	-	2	1970	c.1737G>A	c.(1735-1737)ccG>ccA	p.P579P		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	579					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAGAAGGTGGCGGGGACTTGC	0.582																																						dbGAP											0													158.0	147.0	151.0					13																	100617886		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1737G>A	13.37:g.100617886C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VYB0	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P579	ENST00000267294.4	37	c.1737	CCDS9494.2	13																																																																																			ZIC5	-	pfscan_Znf_C2H2	ENSG00000139800		0.582	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	304	0.33	1	C	NM_033132		100617886	100617886	-1	no_errors	ENST00000267294	ensembl	human	novel	69_37n	silent	117	60.61	180	SNP	0.052	T
