#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
ATM	472	genome.wustl.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	T	G			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr11:108214019T>G	ENST00000452508.2	+	58	8528	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.L2780R|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2780	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GGTGAATTTCTTGTTAACAAT	0.403			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													151.0	137.0	142.0					11																	108214019		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8339T>G	11.37:g.108214019T>G	ENSP00000388058:p.Leu2780Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L2780R	ENST00000452508.2	37	c.8339	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854269	0.91355	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82167	-1.58;-1.58	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94661	0.7848	10	0.87932	D	0	.	15.9974	0.80262	0.0:0.0:0.0:1.0	.	2780	Q13315	ATM_HUMAN	R	2780	ENSP00000278616:L2780R;ENSP00000388058:L2780R	ENSP00000278616:L2780R	L	+	2	0	ATM	107719229	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.720000	0.84759	2.242000	0.73789	0.459000	0.35465	CTT	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.403	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	81	0.00	0	T	NM_000051		108214019	108214019	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	missense	31	54.41	37	SNP	1.000	G
CCND3	896	genome.wustl.edu	37	6	41903724	41903724	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr6:41903724G>C	ENST00000372991.4	-	5	1031	c.833C>G	c.(832-834)cCc>cGc	p.P278R	CCND3_ENST00000372988.4_Missense_Mutation_p.P197R|CCND3_ENST00000414200.2_Missense_Mutation_p.P206R|CCND3_ENST00000510503.1_Silent_p.A151A|CCND3_ENST00000372987.4_Missense_Mutation_p.P228R|CCND3_ENST00000511642.1_Missense_Mutation_p.P197R|CCND3_ENST00000415497.2_Missense_Mutation_p.P82R|CCND3_ENST00000511686.1_5'UTR	NM_001760.3	NP_001751.1	P30281	CCND3_HUMAN	cyclin D3	278					cell cycle (GO:0007049)|cell division (GO:0051301)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of protein phosphorylation (GO:0001934)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTCTGGCTGGGCCCTTGGCT	0.657			T	IGH@	MM																																	dbGAP		Dom	yes		6	6p21	896	cyclin D3		L	0													33.0	38.0	36.0					6																	41903724		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS4863.1, CCDS47425.1, CCDS47426.1, CCDS47427.1, CCDS75452.1	6p21	2008-08-26			ENSG00000112576	ENSG00000112576			1585	protein-coding gene	gene with protein product		123834				1386335	Standard	NM_001136125		Approved		uc003orn.3	P30281	OTTHUMG00000014690	ENST00000372991.4:c.833C>G	6.37:g.41903724G>C	ENSP00000362082:p.Pro278Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD63|B3KQ22|E9PAS4|E9PB36|Q5T8J0|Q6FG62|Q96F49	Missense_Mutation	SNP	pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E	p.P278R	ENST00000372991.4	37	c.833	CCDS4863.1	6	.	.	.	.	.	.	.	.	.	.	g	13.21	2.169441	0.38315	.	.	ENSG00000112576	ENST00000372991;ENST00000511642;ENST00000372987;ENST00000372988;ENST00000415497;ENST00000414200	T;T;T;T;T;T	0.22539	2.96;2.97;2.94;2.97;1.98;1.95	5.63	5.63	0.86233	.	0.000000	0.56097	D	0.000030	T	0.04952	0.0133	N	0.08118	0	0.80722	D	1	B;B;B	0.31274	0.317;0.074;0.171	B;B;B	0.36418	0.224;0.115;0.161	T	0.35301	-0.9794	10	0.15066	T	0.55	.	10.6557	0.45673	0.0873:0.0:0.9127:0.0	.	206;278;228	E9PAS4;P30281;Q5T8J1	.;CCND3_HUMAN;.	R	278;197;228;197;82;206	ENSP00000362082:P278R;ENSP00000426212:P197R;ENSP00000362078:P228R;ENSP00000362079:P197R;ENSP00000401595:P82R;ENSP00000397545:P206R	ENSP00000362078:P228R	P	-	2	0	CCND3	42011702	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.337000	0.43947	2.668000	0.90789	0.591000	0.81541	CCC	CCND3	-	NULL	ENSG00000112576		0.657	CCND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCND3	HGNC	protein_coding	OTTHUMT00000040540.2	58	0.00	0	G	NM_001760		41903724	41903724	-1	no_errors	ENST00000372991	ensembl	human	known	69_37n	missense	70	34.58	37	SNP	1.000	C
CD59	966	genome.wustl.edu	37	11	33731840	33731840	+	Silent	SNP	G	G	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr11:33731840G>A	ENST00000395850.3	-	4	294	c.219C>T	c.(217-219)aaC>aaT	p.N73N	CD59_ENST00000445143.2_Silent_p.N73N|CD59_ENST00000533403.1_Missense_Mutation_p.T114M|CD59_ENST00000351554.3_Silent_p.N73N|CD59_ENST00000528700.1_Silent_p.N73N|CD59_ENST00000437761.2_Silent_p.N73N|CD59_ENST00000534312.1_Silent_p.N73N|CD59_ENST00000415002.2_Silent_p.N73N|CD59_ENST00000527577.1_Silent_p.N73N|CD59_ENST00000426650.2_Silent_p.N73N	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	73	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						TTGTGACGTCGTTGAAATTGC	0.443																																						dbGAP											0													171.0	143.0	153.0					11																	33731840		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0				CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.219C>T	11.37:g.33731840G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_LY6_UPAR	p.T114M	ENST00000395850.3	37	c.341	CCDS7886.1	11	.	.	.	.	.	.	.	.	.	.	g	0.050	-1.253508	0.01457	.	.	ENSG00000085063	ENST00000533403	T	0.79940	-1.32	4.19	-8.38	0.00973	.	.	.	.	.	T	0.67202	0.2868	.	.	.	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.55082	-0.8196	8	0.87932	D	0	-3.7779	5.3783	0.16178	0.1438:0.4189:0.3463:0.091	.	114	E9PI80	.	M	114	ENSP00000436737:T114M	ENSP00000436737:T114M	T	-	2	0	CD59	33688416	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.768000	0.00054	-5.586000	0.00012	-3.648000	0.00026	ACG	CD59	-	NULL	ENSG00000085063		0.443	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CD59	HGNC	protein_coding	OTTHUMT00000388809.1	110	0.00	0	G	NM_203329		33731840	33731840	-1	no_errors	ENST00000533403	ensembl	human	novel	69_37n	missense	71	36.84	42	SNP	0.000	A
CELP	1057	genome.wustl.edu	37	9	135962223	135962223	+	RNA	SNP	C	C	A	rs185734738	byFrequency	TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr9:135962223C>A	ENST00000411440.2	+	0	730					NR_001275.2				carboxyl ester lipase pseudogene																		GAACCCTACACTACGGAAAAC	0.617																																						dbGAP											0																																										-	-	-			0			L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962223C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			CELP	-	-	ENSG00000170827		0.617	CELP-002	KNOWN	basic	processed_transcript	CELP	HGNC	pseudogene	OTTHUMT00000339837.1	17	0.00	0	C	NM_001808		135962223	135962223	+1	no_errors	ENST00000411440	ensembl	human	known	69_37n	rna	13	27.78	5	SNP	0.862	A
CTTNBP2NL	55917	genome.wustl.edu	37	1	112998889	112998889	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr1:112998889C>T	ENST00000271277.6	+	6	1000	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	259					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAAGAGAACCGGACCAAAAC	0.453																																						dbGAP											0													96.0	109.0	104.0					1																	112998889		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.775C>T	1.37:g.112998889C>T	ENSP00000271277:p.Arg259Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.R259W	ENST00000271277.6	37	c.775	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.206550	0.95033	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.65732	-0.17;0.73	6.07	6.07	0.98685	.	0.102739	0.64402	D	0.000002	T	0.76969	0.4062	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	T	0.77542	-0.2549	10	0.87932	D	0	-21.3177	20.239	0.98366	0.0:1.0:0.0:0.0	.	259	Q9P2B4	CT2NL_HUMAN	W	259	ENSP00000271277:R259W;ENSP00000390976:R259W	ENSP00000271277:R259W	R	+	1	2	CTTNBP2NL	112800412	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.323000	0.52014	2.884000	0.98904	0.655000	0.94253	CGG	CTTNBP2NL	-	NULL	ENSG00000143079		0.453	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	64	0.00	0	C	NM_018704		112998889	112998889	+1	no_errors	ENST00000271277	ensembl	human	known	69_37n	missense	55	36.05	31	SNP	1.000	T
GNAO1	2775	genome.wustl.edu	37	16	56226639	56226640	+	Intron	DEL	CA	CA	-	rs374523415|rs74020181|rs74020179		TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr16:56226639_56226640delCA	ENST00000262493.6	+	2	1007				CTD-2050B12.2_ENST00000567381.1_RNA|GNAO1_ENST00000569295.1_Intron|RP11-461O7.1_ENST00000501259.1_lincRNA|GNAO1_ENST00000262494.7_Intron	NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|dopamine receptor signaling pathway (GO:0007212)|forebrain development (GO:0030900)|locomotory behavior (GO:0007626)|muscle contraction (GO:0006936)|negative regulation of calcium ion transport (GO:0051926)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|regulation of heart contraction (GO:0008016)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to morphine (GO:0043278)	heterotrimeric G-protein complex (GO:0005834)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	corticotropin-releasing hormone receptor 1 binding (GO:0051430)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|mu-type opioid receptor binding (GO:0031852)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTAATTCGTGcacacacacaca	0.441																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS10756.1, CCDS10757.1	16q13	2008-08-01			ENSG00000087258	ENSG00000087258			4389	protein-coding gene	gene with protein product		139311				1899283, 11395521	Standard	NM_020988		Approved	G-ALPHA-o	uc002eit.4	P09471	OTTHUMG00000133241	ENST00000262493.6:c.161+111CA>-	16.37:g.56226649_56226650delCA		Somatic		WXS	Illumina GAIIx	Phase_IV	P29777|Q8TD72|Q9UMV4	RNA	DEL	-	NULL	ENST00000262493.6	37	NULL	CCDS10756.1	16																																																																																			CTD-2050B12.2	-	-	ENSG00000261439		0.441	GNAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZP434H168	Clone_based_vega_gene	protein_coding	OTTHUMT00000256981.2	19	0.00	0	CA	NM_020988		56226639	56226640	-1	no_errors	ENST00000567381	ensembl	human	known	69_37n	rna	11	21.43	3	DEL	0.271:0.327	-
DOCK5	80005	genome.wustl.edu	37	8	25189823	25189823	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr8:25189823C>A	ENST00000276440.7	+	19	2004	c.1960C>A	c.(1960-1962)Cta>Ata	p.L654I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	654					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TAAACACAACCTAAAGAAGTT	0.348																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													131.0	120.0	124.0					8																	25189823		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.1960C>A	8.37:g.25189823C>A	ENSP00000276440:p.Leu654Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.L654I	ENST00000276440.7	37	c.1960	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828320|3.828320	0.71143|0.71143	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.75704|.	-0.96|.	5.82|5.82	2.5|2.5	0.30297|0.30297	Armadillo-type fold (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	D|D	0.83248|0.83248	0.5213|0.5213	M|M	0.93898|0.93898	3.47|3.47	0.54753|0.54753	D|D	0.999989|0.999989	D;D;D|.	0.76494|.	0.997;0.999;0.997|.	D;D;D|.	0.75484|.	0.974;0.986;0.974|.	D|D	0.85278|0.85278	0.1060|0.1060	10|5	0.87932|.	D|.	0|.	.|.	12.0785|12.0785	0.53657|0.53657	0.0:0.7841:0.0:0.2159|0.0:0.7841:0.0:0.2159	.|.	644;429;654|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	I|H	654|425	ENSP00000276440:L654I|.	ENSP00000276440:L654I|.	L|P	+|+	1|2	2|0	DOCK5|DOCK5	25245740|25245740	0.984000|0.984000	0.35163|0.35163	0.927000|0.927000	0.36925|0.36925	0.865000|0.865000	0.49528|0.49528	1.486000|1.486000	0.35530|0.35530	0.267000|0.267000	0.21916|0.21916	0.650000|0.650000	0.86243|0.86243	CTA|CCT	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.348	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	118	0.00	0	C	NM_024940		25189823	25189823	+1	no_errors	ENST00000276440	ensembl	human	known	69_37n	missense	51	57.85	70	SNP	1.000	A
EIF3I	8668	genome.wustl.edu	37	1	32694376	32694376	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr1:32694376C>T	ENST00000373586.1	+	8	760	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	EIF3I_ENST00000471486.1_3'UTR|MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I											breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CCGGACAGAACGTCCTGTCAA	0.512																																					Colon(102;1138 2140 2180 17876)	dbGAP											0													228.0	243.0	238.0					1																	32694376		2203	4300	6503	-	-	-	SO:0001583	missense	0			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.688C>T	1.37:g.32694376C>T	ENSP00000362688:p.Arg230Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R230C	ENST00000373586.1	37	c.688	CCDS357.1	1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676650	0.67928	.	.	ENSG00000084623	ENST00000373586	D	0.81499	-1.5	4.61	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.68353	0.957	D	0.87004	0.2118	10	0.44086	T	0.13	-18.4214	12.8603	0.57910	0.1631:0.8369:0.0:0.0	.	230	Q13347	EIF3I_HUMAN	C	230	ENSP00000362688:R230C	ENSP00000362688:R230C	R	+	1	0	EIF3I	32466963	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.260000	0.43267	2.284000	0.76573	0.462000	0.41574	CGT	EIF3I	-	superfamily_WD40_repeat_dom	ENSG00000084623		0.512	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	63	0.00	0	C	NM_003757		32694376	32694376	+1	no_errors	ENST00000373586	ensembl	human	known	69_37n	missense	44	32.31	21	SNP	1.000	T
FBXL18	80028	genome.wustl.edu	37	7	5545048	5545048	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr7:5545048A>C	ENST00000382368.3	-	2	355	c.232T>G	c.(232-234)Tat>Gat	p.Y78D	FBXL18_ENST00000453700.3_Missense_Mutation_p.Y78D	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	78									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CTCACCTGATAGTCCTTTTGC	0.552																																						dbGAP											0													60.0	61.0	61.0					7																	5545048		2106	4234	6340	-	-	-	SO:0001583	missense	0			AK057042	CCDS43546.1	7p22.2	2011-06-09			ENSG00000155034	ENSG00000155034		"""F-boxes / Leucine-rich repeats"""	21874	protein-coding gene	gene with protein product		609084					Standard	NM_024963		Approved	FLJ11467, Fbl18	uc003son.4	Q96ME1	OTTHUMG00000151832	ENST00000382368.3:c.232T>G	7.37:g.5545048A>C	ENSP00000371805:p.Tyr78Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BR90|Q9BTC7|Q9HAK7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.Y78D	ENST00000382368.3	37	c.232	CCDS43546.1	7	.	.	.	.	.	.	.	.	.	.	A	20.1	3.938840	0.73557	.	.	ENSG00000155034	ENST00000382368;ENST00000312577;ENST00000453700	T;T	0.54479	0.61;0.57	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.60157	0.2247	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.64228	-0.6457	10	0.62326	D	0.03	.	13.8778	0.63665	1.0:0.0:0.0:0.0	.	78;78	F5H4Z4;Q96ME1-4	.;.	D	78	ENSP00000371805:Y78D;ENSP00000444797:Y78D	ENSP00000311990:Y78D	Y	-	1	0	FBXL18	5511574	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.703000	0.91344	1.888000	0.54679	0.402000	0.26972	TAT	FBXL18	-	NULL	ENSG00000155034		0.552	FBXL18-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL18	HGNC	protein_coding	OTTHUMT00000324093.1	40	0.00	0	A	NM_024963		5545048	5545048	-1	no_errors	ENST00000453700	ensembl	human	known	69_37n	missense	46	57.27	63	SNP	1.000	C
HIST1H3B	8358	genome.wustl.edu	37	6	26032045	26032045	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr6:26032045C>T	ENST00000244661.2	-	1	243	c.244G>A	c.(244-246)Gat>Aat	p.D82N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	82					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AAGCGAAGATCGGTCTTGAAG	0.582																																						dbGAP											0													74.0	77.0	76.0					6																	26032045		2203	4300	6503	-	-	-	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.244G>A	6.37:g.26032045C>T	ENSP00000244661:p.Asp82Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.D82N	ENST00000244661.2	37	c.244	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	17.72	3.460060	0.63401	.	.	ENSG00000124693	ENST00000244661	T	0.47869	0.83	5.24	5.24	0.73138	.	.	.	.	.	T	0.61135	0.2323	.	.	.	0.46981	D	0.999276	.	.	.	.	.	.	T	0.65598	-0.6129	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	N	82	ENSP00000244661:D82N	ENSP00000244661:D82N	D	-	1	0	HIST1H3B	26140024	1.000000	0.71417	1.000000	0.80357	0.227000	0.25037	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAT	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.582	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	61	0.00	0	C	NM_003537		26032045	26032045	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	T
HNF4A	3172	genome.wustl.edu	37	20	43052731	43052731	+	Silent	SNP	C	C	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr20:43052731C>T	ENST00000316099.4	+	8	1055	c.966C>T	c.(964-966)taC>taT	p.Y322Y	HNF4A_ENST00000457232.1_Silent_p.Y300Y|HNF4A_ENST00000443598.2_Silent_p.Y322Y|HNF4A_ENST00000609795.1_Silent_p.Y300Y|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000316673.4_Silent_p.Y300Y|HNF4A_ENST00000415691.2_Silent_p.Y322Y	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	322					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGGAGGACTACATCAACGACC	0.597																																					Colon(79;2 1269 8820 14841 52347)	dbGAP											0													38.0	26.0	30.0					20																	43052731		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.966C>T	20.37:g.43052731C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.Y322	ENST00000316099.4	37	c.966	CCDS13330.1	20																																																																																			HNF4A	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4	ENSG00000101076		0.597	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	14	0.00	0	C			43052731	43052731	+1	no_errors	ENST00000316099	ensembl	human	known	69_37n	silent	10	41.18	7	SNP	1.000	T
L1CAM	3897	genome.wustl.edu	37	X	153149667	153149667	+	Intron	SNP	G	G	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chrX:153149667G>T	ENST00000370060.1	-	1	82				L1CAM_ENST00000370055.1_Intron|LCA10_ENST00000357566.1_5'UTR|L1CAM_ENST00000484587.1_5'UTR	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					gcccaaaggagCACTGGCCAT	0.602																																						dbGAP											0													30.0	22.0	25.0					X																	153149667		2191	4284	6475	-	-	-	SO:0001627	intron_variant	0			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.107+1851C>A	X.37:g.153149667G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	NULL	p.E166D	ENST00000370060.1	37	c.498	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	g	10.59	1.392998	0.25118	.	.	ENSG00000196987	ENST00000452593	.	.	.	2.56	1.68	0.24146	.	.	.	.	.	T	0.24890	0.0604	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21348	-1.0248	4	.	.	.	.	4.529	0.11995	0.1921:0.0:0.8079:0.0	.	.	.	.	D	166	.	.	E	+	3	2	U52112.12	152802861	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.293000	0.19029	0.508000	0.28173	0.418000	0.28097	GAG	U52112.12	-	NULL	ENSG00000196987		0.602	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100996465	Clone_based_vega_gene	protein_coding	OTTHUMT00000061094.2	11	0.00	0	G	NM_024003		153149667	153149667	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000452593	ensembl	human	putative	69_37n	missense	29	30.95	13	SNP	0.001	T
MICAL1	64780	genome.wustl.edu	37	6	109766645	109766645	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr6:109766645C>T	ENST00000358807.3	-	21	3072	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	MICAL1_ENST00000358577.3_Missense_Mutation_p.E835K|MICAL1_ENST00000368952.4_Missense_Mutation_p.E940K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	921					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTCTTCATCTCCTCCTCCTTC	0.562																																						dbGAP											0													94.0	101.0	98.0					6																	109766645		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2761G>A	6.37:g.109766645C>T	ENSP00000351664:p.Glu921Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.E940K	ENST00000358807.3	37	c.2818	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662876	0.47572	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957;ENST00000335266	T;T;T	0.55760	0.51;0.52;0.5	5.3	2.35	0.29111	.	0.138096	0.46758	N	0.000278	T	0.26991	0.0661	L	0.50333	1.59	0.31697	N	0.641156	B;P;B	0.38827	0.297;0.649;0.104	B;B;B	0.34452	0.129;0.183;0.055	T	0.06552	-1.0820	10	0.44086	T	0.13	.	12.9241	0.58249	0.0:0.4789:0.5211:0.0	.	940;835;921	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	K	921;940;835;445;177	ENSP00000351664:E921K;ENSP00000357948:E940K;ENSP00000351385:E835K	ENSP00000335372:E177K	E	-	1	0	MICAL1	109873338	0.073000	0.21202	1.000000	0.80357	0.676000	0.39594	0.090000	0.15025	0.607000	0.29982	-0.150000	0.13652	GAG	MICAL1	-	NULL	ENSG00000135596		0.562	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	107	0.00	0	C	NM_022765		109766645	109766645	-1	no_errors	ENST00000368952	ensembl	human	known	69_37n	missense	33	58.75	47	SNP	0.992	T
MUC16	94025	genome.wustl.edu	37	19	9058547	9058547	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr19:9058547C>A	ENST00000397910.4	-	3	29102	c.28899G>T	c.(28897-28899)caG>caT	p.Q9633H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9635	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACATTGTGGACTGAGCAGGGC	0.507																																						dbGAP											0													146.0	130.0	135.0					19																	9058547		2018	4169	6187	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28899G>T	19.37:g.9058547C>A	ENSP00000381008:p.Gln9633His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q9633H	ENST00000397910.4	37	c.28899	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	8.244	0.807590	0.16467	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	2.62	-1.17	0.09648	.	.	.	.	.	T	0.02267	0.0070	L	0.34521	1.04	.	.	.	B	0.16603	0.018	B	0.20184	0.028	T	0.48019	-0.9071	8	0.87932	D	0	.	0.6307	0.00794	0.3317:0.3233:0.1787:0.1663	.	9633	B5ME49	.	H	9633	ENSP00000381008:Q9633H	ENSP00000381008:Q9633H	Q	-	3	2	MUC16	8919547	0.000000	0.05858	0.000000	0.03702	0.472000	0.32918	-2.477000	0.00985	-0.226000	0.09899	0.305000	0.20034	CAG	MUC16	-	NULL	ENSG00000181143		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	153	0.00	0	C	NM_024690		9058547	9058547	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	143	33.18	71	SNP	0.000	A
OR10P1	121130	genome.wustl.edu	37	12	56031321	56031321	+	Missense_Mutation	SNP	G	G	T			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr12:56031321G>T	ENST00000309675.2	+	1	678	c.646G>T	c.(646-648)Gtc>Ttc	p.V216F	RP11-644F5.16_ENST00000556606.1_RNA	NM_206899.1	NP_996782.1	Q8NGE3	O10P1_HUMAN	olfactory receptor, family 10, subfamily P, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CTCTCTGATTGTCACCTCTTA	0.572																																						dbGAP											0													134.0	112.0	120.0					12																	56031321		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK004259	CCDS31828.1	12q13.13	2012-08-09		2004-03-10		ENSG00000175398		"""GPCR / Class A : Olfactory receptors"""	15378	protein-coding gene	gene with protein product				OR10P1P, OR10P2P, OR10P3P			Standard	NM_206899		Approved	OST701	uc010spq.2	Q8NGE3	OTTHUMG00000169961	ENST00000309675.2:c.646G>T	12.37:g.56031321G>T	ENSP00000308082:p.Val216Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EGY4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V216F	ENST00000309675.2	37	c.646	CCDS31828.1	12	.	.	.	.	.	.	.	.	.	.	G	9.877	1.200413	0.22121	.	.	ENSG00000175398	ENST00000309675	T	0.00277	8.34	4.44	-1.15	0.09709	GPCR, rhodopsin-like superfamily (1);	0.608683	0.13778	N	0.363452	T	0.00144	0.0004	N	0.04203	-0.255	0.09310	N	1	P	0.50369	0.934	P	0.52909	0.713	T	0.50550	-0.8815	10	0.52906	T	0.07	.	2.808	0.05433	0.1658:0.2529:0.4511:0.1303	.	216	Q8NGE3	O10P1_HUMAN	F	216	ENSP00000308082:V216F	ENSP00000308082:V216F	V	+	1	0	OR10P1	54317588	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.450000	0.06803	-0.018000	0.14079	-0.310000	0.09108	GTC	OR10P1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000175398		0.572	OR10P1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10P1	HGNC	protein_coding	OTTHUMT00000406680.1	44	0.00	0	G			56031321	56031321	+1	no_errors	ENST00000309675	ensembl	human	known	69_37n	missense	31	26.19	11	SNP	0.001	T
SIGLEC12	89858	genome.wustl.edu	37	19	52004795	52004795	+	Missense_Mutation	SNP	G	G	A	rs61742108|rs371016684	byFrequency	TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr19:52004795G>A	ENST00000291707.3	-	1	248	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	SIGLEC12_ENST00000598614.1_5'Flank	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	65	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCCCCTGCCCGGAACCAGTAG	0.597																																						dbGAP											0													83.0	71.0	75.0					19																	52004795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.193C>T	19.37:g.52004795G>A	ENSP00000291707:p.Arg65Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R65W	ENST00000291707.3	37	c.193	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	10.37	1.330792	0.24167	.	.	ENSG00000254521	ENST00000291707	T	0.70986	-0.53	2.28	-4.56	0.03431	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61035	0.2315	M	0.73217	2.22	0.09310	N	1	B	0.15719	0.014	B	0.06405	0.002	T	0.46400	-0.9194	9	0.51188	T	0.08	.	3.2272	0.06736	0.3003:0.0:0.3814:0.3183	.	65	Q96PQ1	SIG12_HUMAN	W	65	ENSP00000291707:R65W	ENSP00000291707:R65W	R	-	1	2	SIGLEC12	56696607	0.003000	0.15002	0.003000	0.11579	0.117000	0.20001	-0.338000	0.07842	-2.056000	0.00898	-1.151000	0.01829	CGG	SIGLEC12	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000254521		0.597	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	43	0.00	0	G	NM_053003		52004795	52004795	-1	no_errors	ENST00000291707	ensembl	human	known	69_37n	missense	48	42.35	36	SNP	0.004	A
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	10	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	14	50.00	15	SNP	0.994	A
TTN	7273	genome.wustl.edu	37	2	179444052	179444052	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr2:179444052G>A	ENST00000591111.1	-	270	63006	c.62782C>T	c.(62782-62784)Cgg>Tgg	p.R20928W	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R13629W|TTN_ENST00000460472.2_Missense_Mutation_p.R13504W|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R13696W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R22569W|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R20001W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20928	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTAAGCCGGAAGTTGCTG	0.433																																						dbGAP											0													62.0	60.0	61.0					2																	179444052		1896	4111	6007	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62782C>T	2.37:g.179444052G>A	ENSP00000465570:p.Arg20928Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R20001W	ENST00000591111.1	37	c.60001		2	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407424	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.68	5.68	0.88126	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67776	0.2929	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.74674	0.984;0.984;0.984;0.984	T	0.72007	-0.4420	9	0.87932	D	0	.	14.9183	0.70815	0.0:0.0:0.8568:0.1432	.	13504;13629;13696;20928	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	20001;13504;13696;13629;13502	ENSP00000343764:R20001W;ENSP00000434586:R13504W;ENSP00000340554:R13696W;ENSP00000352154:R13629W	ENSP00000340554:R13696W	R	-	1	2	TTN	179152298	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.759000	0.85235	2.833000	0.97629	0.655000	0.94253	CGG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2	ENSG00000155657		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	45	0.00	0	G	NM_133378		179444052	179444052	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	39	30.36	17	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179479294	179479294	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr2:179479294A>G	ENST00000591111.1	-	211	44248	c.44024T>C	c.(44023-44025)gTg>gCg	p.V14675A	TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7376A|TTN_ENST00000460472.2_Missense_Mutation_p.V7251A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7443A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V16316A|TTN_ENST00000342992.6_Missense_Mutation_p.V13748A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14675	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAATAGTCACTGTGGATTT	0.423																																						dbGAP											0													115.0	107.0	110.0					2																	179479294		1927	4126	6053	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44024T>C	2.37:g.179479294A>G	ENSP00000465570:p.Val14675Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13748A	ENST00000591111.1	37	c.41243		2	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493898	0.44352	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.63	5.63	0.86233	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54854	0.1884	L	0.58810	1.83	0.48901	D	0.999727	D;D;D;D	0.67145	0.992;0.992;0.992;0.996	P;P;P;P	0.54815	0.761;0.761;0.761;0.761	T	0.59016	-0.7533	9	0.87932	D	0	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	7251;7376;7443;14675	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	13748;7251;7443;7376;7251	ENSP00000343764:V13748A;ENSP00000434586:V7251A;ENSP00000340554:V7443A;ENSP00000352154:V7376A	ENSP00000340554:V7443A	V	-	2	0	TTN	179187539	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.229000	0.95273	2.263000	0.75096	0.533000	0.62120	GTG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	166	0.00	0	A	NM_133378		179479294	179479294	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	95	34.93	51	SNP	1.000	G
ZCCHC12	170261	genome.wustl.edu	37	X	117960036	117960036	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chrX:117960036G>A	ENST00000310164.2	+	4	1336	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	277					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						CGATGAGGATGTGATCCTGGT	0.567																																						dbGAP											0													92.0	79.0	84.0					X																	117960036		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.829G>A	X.37:g.117960036G>A	ENSP00000308921:p.Val277Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	superfamily_Znf_CCHC	p.V277M	ENST00000310164.2	37	c.829	CCDS14574.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891629	0.52014	.	.	ENSG00000174460	ENST00000310164	T	0.46063	0.88	3.1	3.1	0.35709	.	.	.	.	.	T	0.61689	0.2367	M	0.78223	2.4	0.28923	N	0.892048	D	0.76494	0.999	D	0.87578	0.998	T	0.53816	-0.8385	9	0.56958	D	0.05	-20.9499	8.8131	0.34978	0.0:0.0:1.0:0.0	.	277	Q6PEW1	ZCH12_HUMAN	M	277	ENSP00000308921:V277M	ENSP00000308921:V277M	V	+	1	0	ZCCHC12	117844064	1.000000	0.71417	0.999000	0.59377	0.961000	0.63080	3.765000	0.55272	1.807000	0.52817	0.600000	0.82982	GTG	ZCCHC12	-	NULL	ENSG00000174460		0.567	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC12	HGNC	protein_coding	OTTHUMT00000058014.1	41	0.00	0	G	NM_173798		117960036	117960036	+1	no_errors	ENST00000310164	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	0.999	A
ZNF175	7728	genome.wustl.edu	37	19	52091101	52091101	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IE-01A-11D-A188-09	TCGA-E2-A1IE-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e416f05b-c7d2-479b-8068-803492e86d86	6ac63f27-8c8b-4ec4-bc06-710c5fe59fcb	g.chr19:52091101G>A	ENST00000262259.2	+	5	1875	c.1517G>A	c.(1516-1518)aGt>aAt	p.S506N	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	506					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TATGAATGCAGTGACTGTGGA	0.418																																						dbGAP											0													49.0	45.0	46.0					19																	52091101		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.1517G>A	19.37:g.52091101G>A	ENSP00000262259:p.Ser506Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9H2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S506N	ENST00000262259.2	37	c.1517	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	G	1.859	-0.463229	0.04476	.	.	ENSG00000105497	ENST00000262259	T	0.19250	2.16	2.26	-1.32	0.09201	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11153	0.0272	L	0.41710	1.295	0.09310	N	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.41106	-0.9527	9	0.02654	T	1	.	3.8057	0.08776	0.2749:0.404:0.3212:0.0	.	506	Q9Y473	ZN175_HUMAN	N	506	ENSP00000262259:S506N	ENSP00000262259:S506N	S	+	2	0	ZNF175	56782913	0.000000	0.05858	0.003000	0.11579	0.983000	0.72400	-1.799000	0.01746	-0.204000	0.10235	0.655000	0.94253	AGT	ZNF175	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105497		0.418	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	54	0.00	0	G	NM_007147		52091101	52091101	+1	no_errors	ENST00000262259	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.000	A
