#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
ABLIM1	3983	genome.wustl.edu	37	10	116247760	116247760	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr10:116247760T>C	ENST00000277895.5	-	8	1095	c.998A>G	c.(997-999)cAt>cGt	p.H333R	ABLIM1_ENST00000369252.4_Missense_Mutation_p.H273R|ABLIM1_ENST00000369253.2_Missense_Mutation_p.H17R|ABLIM1_ENST00000392952.3_Missense_Mutation_p.H17R|ABLIM1_ENST00000369266.3_Missense_Mutation_p.H17R|ABLIM1_ENST00000533213.2_Missense_Mutation_p.H273R	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	333	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		ACAGTCGGGATGCCAAACGGT	0.483																																						dbGAP											0													228.0	207.0	214.0					10																	116247760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.998A>G	10.37:g.116247760T>C	ENSP00000277895:p.His333Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM	p.H333R	ENST00000277895.5	37	c.998	CCDS7590.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.424316|4.424316	0.83667|0.83667	.|.	.|.	ENSG00000099204|ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000428430|ENST00000392955	T;T;T;T;T;T;T|.	0.67523|.	1.56;-0.27;1.56;-0.22;1.52;0.05;0.49|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Zinc finger, LIM-type (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85177|0.85177	0.5637|0.5637	M|M	0.93197|0.93197	3.39|3.39	0.58432|0.58432	D|D	0.999991|0.999991	D;P;B;D;D;D;D;D;P|.	0.89917|.	0.965;0.853;0.285;0.965;0.985;1.0;0.999;0.985;0.532|.	P;P;B;P;P;D;D;P;P|.	0.91635|.	0.861;0.603;0.279;0.893;0.887;0.999;0.992;0.873;0.595|.	D|D	0.88882|0.88882	0.3340|0.3340	10|5	0.87932|.	D|.	0|.	.|.	13.6931|13.6931	0.62559|0.62559	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	257;17;273;273;333;17;273;257;17|.	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4|.	.;.;.;.;ABLM1_HUMAN;.;.;.;.|.	R|V	333;273;17;17;273;273;333;257;17;257;257;333;17;17|242	ENSP00000358256:H273R;ENSP00000376679:H17R;ENSP00000433629:H273R;ENSP00000358270:H17R;ENSP00000277895:H333R;ENSP00000358257:H17R;ENSP00000400934:H17R|.	ENSP00000277895:H333R|.	H|I	-|-	2|1	0|0	ABLIM1|ABLIM1	116237750|116237750	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.470000|7.470000	0.80973|0.80973	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	CAT|ATC	ABLIM1	-	smart_Znf_LIM	ENSG00000099204		0.483	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABLIM1	HGNC	protein_coding	OTTHUMT00000050469.3	77	0.00	0	T			116247760	116247760	-1	no_errors	ENST00000277895	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	C
ADAMTS20	80070	genome.wustl.edu	37	12	43944926	43944926	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr12:43944926T>C	ENST00000389420.3	-	2	238	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Y80C	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	80					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTGAAGCGATAGTGGGTTCG	0.617																																						dbGAP											0													106.0	103.0	104.0					12																	43944926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.239A>G	12.37:g.43944926T>C	ENSP00000374071:p.Tyr80Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.Y80C	ENST00000389420.3	37	c.239	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	T	20.5	4.008343	0.75046	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.10099	2.91;2.91	3.81	3.81	0.43845	Peptidase M12B, propeptide (1);	0.000000	0.34200	N	0.004170	T	0.36771	0.0979	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42515	-0.9447	10	0.87932	D	0	.	13.2915	0.60274	0.0:0.0:0.0:1.0	.	80	P59510	ATS20_HUMAN	C	80	ENSP00000374071:Y80C;ENSP00000448341:Y80C	ENSP00000374068:Y80C	Y	-	2	0	ADAMTS20	42231193	1.000000	0.71417	0.998000	0.56505	0.845000	0.48019	5.596000	0.67570	1.945000	0.56424	0.533000	0.62120	TAT	ADAMTS20	-	pfam_Peptidase_M12B_N	ENSG00000173157		0.617	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	50	0.00	0	T	NM_025003		43944926	43944926	-1	no_errors	ENST00000389420	ensembl	human	known	69_37n	missense	19	45.95	17	SNP	1.000	C
CADM2	253559	genome.wustl.edu	37	3	85932472	85932472	+	Silent	SNP	C	C	T			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr3:85932472C>T	ENST00000407528.2	+	3	305	c.243C>T	c.(241-243)cgC>cgT	p.R81R	CADM2_ENST00000405615.2_Silent_p.R83R|CADM2_ENST00000383699.3_Silent_p.R90R	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	81	Ig-like V-type.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGCTGGTTCGCGCTTCCTGGC	0.373																																						dbGAP											0													119.0	101.0	107.0					3																	85932472		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.243C>T	3.37:g.85932472C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.R83	ENST00000407528.2	37	c.249	CCDS54614.1	3																																																																																			CADM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000175161		0.373	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	57	0.00	0	C	NM_153184		85932472	85932472	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	silent	22	51.11	23	SNP	0.920	T
DTNB	1838	genome.wustl.edu	37	2	25678299	25678299	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr2:25678299C>T	ENST00000406818.3	-	11	1393	c.1144G>A	c.(1144-1146)Gtg>Atg	p.V382M	DTNB_ENST00000404103.3_Missense_Mutation_p.V382M|DTNB_ENST00000407038.3_Intron|DTNB_ENST00000407661.3_Missense_Mutation_p.V382M|DTNB_ENST00000407186.1_Intron|DTNB_ENST00000405222.1_Intron|DTNB_ENST00000496972.2_Missense_Mutation_p.V325M|DTNB_ENST00000545439.1_Missense_Mutation_p.V178M|DTNB_ENST00000288642.8_Missense_Mutation_p.V382M	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	382						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACGGGCCACATAGGAGGCT	0.567																																						dbGAP											0													44.0	46.0	45.0					2																	25678299		2084	4226	6310	-	-	-	SO:0001583	missense	0			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1144G>A	2.37:g.25678299C>T	ENSP00000384084:p.Val382Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.V382M	ENST00000406818.3	37	c.1144	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981739	0.74474	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T	0.48522	2.13;2.14;2.13;2.14;2.12;0.81	5.11	4.22	0.49857	.	0.365585	0.28784	N	0.014147	T	0.65123	0.2661	M	0.69823	2.125	0.35294	D	0.782451	P;P;B;P;P;P;P;P	0.51791	0.913;0.913;0.364;0.948;0.849;0.948;0.907;0.715	P;P;B;P;P;D;P;B	0.63877	0.701;0.482;0.192;0.745;0.482;0.919;0.847;0.379	T	0.76380	-0.2980	10	0.66056	D	0.02	-22.6146	13.641	0.62251	0.0:0.8433:0.1567:0.0	.	382;178;325;382;382;382;382;382	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;DTNB_HUMAN	M	325;382;382;382;382;178;235	ENSP00000444463:V325M;ENSP00000384084:V382M;ENSP00000385482:V382M;ENSP00000385193:V382M;ENSP00000288642:V382M;ENSP00000444961:V178M	ENSP00000288642:V382M	V	-	1	0	DTNB	25531803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.439000	0.66556	1.248000	0.43934	0.655000	0.94253	GTG	DTNB	-	pirsf_Distrobrevin	ENSG00000138101		0.567	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	35	0.00	0	C	NM_033147		25678299	25678299	-1	no_errors	ENST00000406818	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	1.000	T
KAT2A	2648	genome.wustl.edu	37	17	40272381	40272381	+	Silent	SNP	G	G	A	rs536716483		TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr17:40272381G>A	ENST00000225916.5	-	3	524	c.471C>T	c.(469-471)caC>caT	p.H157H	CTD-2132N18.3_ENST00000592574.1_Silent_p.H191H|HSPB9_ENST00000355067.3_5'Flank	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	157					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGTGGGATACGTGGTCAGCTG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20626	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													99.0	87.0	91.0					17																	40272381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.471C>T	17.37:g.40272381G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.T150M	ENST00000225916.5	37	c.449	CCDS11417.1	17																																																																																			CTD-2132N18.3	-	smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho	ENSG00000267261		0.468	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267261	Clone_based_vega_gene	protein_coding	OTTHUMT00000257458.1	40	0.00	0	G	NM_021078		40272381	40272381	-1	no_errors	ENST00000592248	ensembl	human	known	69_37n	missense	30	54.55	36	SNP	0.486	A
MSH3	4437	genome.wustl.edu	37	5	80024722	80024722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr5:80024722delT	ENST00000265081.6	+	10	1586	c.1506delT	c.(1504-1506)tctfs	p.S502fs	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	502					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGATTTGCTCTTTGGCTGCCA	0.318								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													88.0	103.0	98.0					5																	80024722		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1506delT	5.37:g.80024722delT	ENSP00000265081:p.Ser502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L503fs	ENST00000265081.6	37	c.1506	CCDS34195.1	5																																																																																			MSH3	-	pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_connt	ENSG00000113318		0.318	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	83	0.00	0	T	NM_002439		80024722	80024722	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.998	-
MYB	4602	genome.wustl.edu	37	6	135507043	135507044	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr6:135507043_135507044insA	ENST00000367814.4	+	2	212_213	c.26_27insA	c.(25-30)atatatfs	p.Y10fs	MYB_ENST00000420123.2_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000442647.2_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000525369.1_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000527615.1_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000316528.8_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534121.1_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000528774.1_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000341911.5_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000534044.1_Frame_Shift_Ins_p.Y10fs|MYB_ENST00000533624.1_Frame_Shift_Ins_p.Y10fs	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	10					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTCTGCAGCATATATAGCAGTG	0.426			T	NFIB	adenoid cystic carcinoma																																	dbGAP		Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.27dupA	6.37:g.135507044_135507044dupA	ENSP00000356788:p.Tyr10fs	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Frame_Shift_Ins	INS	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.Y10fs	ENST00000367814.4	37	c.26_27	CCDS5174.1	6																																																																																			MYB	-	NULL	ENSG00000118513		0.426	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	50	0.00	0	-			135507043	135507044	+1	no_errors	ENST00000341911	ensembl	human	known	69_37n	frame_shift_ins	36	10.00	4	INS	1.000:0.997	A
NPIPB15	440348	genome.wustl.edu	37	16	74425902	74425902	+	Missense_Mutation	SNP	T	T	C	rs141751158		TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr16:74425902T>C	ENST00000429990.1	+	7	1352	c.1256T>C	c.(1255-1257)aTa>aCa	p.I419T				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	419						extracellular region (GO:0005576)											gcctgggcaataagaataaat	0.413																																						dbGAP											0													3.0	3.0	3.0					16																	74425902		1357	2958	4315	-	-	-	SO:0001583	missense	0			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1256T>C	16.37:g.74425902T>C	ENSP00000411140:p.Ile419Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9J9U8	Missense_Mutation	SNP	pfam_NPIP	p.I419T	ENST00000429990.1	37	c.1256		16	.	.	.	.	.	.	.	.	.	.	-	7.398	0.632084	0.14322	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.53423	0.62	.	.	.	.	.	.	.	.	T	0.20941	0.0504	N	0.08118	0	0.21020	N	0.999804	B	0.30211	0.273	B	0.32762	0.152	T	0.23404	-1.0189	8	0.12430	T	0.62	.	2.6652	0.05046	0.0:0.5:0.0:0.5	.	358	A6NHN6	NPPL2_HUMAN	T	283;419	ENSP00000411140:I419T	ENSP00000411140:I419T	I	+	2	0	NPIPL2	72983403	0.026000	0.19158	0.000000	0.03702	0.000000	0.00434	0.065000	0.14466	0.000000	0.14550	0.000000	0.15137	ATA	NPIPL2	-	NULL	ENSG00000196436		0.413	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPL2	HGNC	protein_coding	OTTHUMT00000346597.2	20	0.00	0	T	NM_001018059		74425902	74425902	+1	no_errors	ENST00000429990	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.999	C
OR11H1	81061	genome.wustl.edu	37	22	16449539	16449539	+	Missense_Mutation	SNP	A	A	G	rs199856986	byFrequency	TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr22:16449539A>G	ENST00000252835.4	-	1	266	c.266T>C	c.(265-267)gTc>gCc	p.V89A		NM_001005239.1	NP_001005239.1	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H, member 1	89						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)	11	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)		TGTAGAAGAGACATACCATAT	0.418																																						dbGAP											0													1.0	1.0	1.0					22																	16449539		71	200	271	-	-	-	SO:0001583	missense	0			AP000535, AF399611	CCDS74807.1	22q11.1	2012-08-09			ENSG00000130538	ENSG00000130538		"""GPCR / Class A : Olfactory receptors"""	15404	protein-coding gene	gene with protein product						12213199	Standard	NM_001005239		Approved	OR22-1	uc011agd.2	Q8NG94	OTTHUMG00000030069	ENST00000252835.4:c.266T>C	22.37:g.16449539A>G	ENSP00000252835:p.Val89Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEX0|Q96R32	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V89A	ENST00000252835.4	37	c.266	CCDS33594.1	22	.	.	.	.	.	.	.	.	.	.	a	9.377	1.072113	0.20147	.	.	ENSG00000130538	ENST00000252835	T	0.00418	7.49	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37715	N	0.001976	T	0.00328	0.0010	L	0.47078	1.49	0.09310	N	1	P	0.42409	0.779	B	0.40636	0.335	T	0.53158	-0.8478	10	0.37606	T	0.19	.	8.3461	0.32275	1.0:0.0:0.0:0.0	.	89	Q8NG94	O11H1_HUMAN	A	89	ENSP00000252835:V89A	ENSP00000252835:V89A	V	-	2	0	OR11H1	14829539	0.000000	0.05858	0.990000	0.47175	0.581000	0.36288	0.456000	0.21859	0.966000	0.38159	0.302000	0.19851	GTC	OR11H1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000130538		0.418	OR11H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H1	HGNC	protein_coding	OTTHUMT00000074923.2	65	0.00	0	A	NM_001005239		16449539	16449539	-1	no_errors	ENST00000252835	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	0.234	G
OTOR	56914	genome.wustl.edu	37	20	16730581	16730581	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr20:16730581G>A	ENST00000246081.2	+	3	333	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	OTOR_ENST00000486129.1_3'UTR	NM_020157.2	NP_064542.1	Q9NRC9	OTOR_HUMAN	otoraplin	97	SH3.				cartilage condensation (GO:0001502)|sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						GATGGGAGTCGTGGGTTATTT	0.493																																						dbGAP											0													107.0	85.0	92.0					20																	16730581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF233261	CCDS13124.1	20p12.1-p11.23	2005-11-14			ENSG00000125879	ENSG00000125879			8517	protein-coding gene	gene with protein product		606067				10873378	Standard	NM_020157		Approved	MIAL, MIAL1, FDP	uc002wpj.3	Q9NRC9	OTTHUMG00000031931	ENST00000246081.2:c.289G>A	20.37:g.16730581G>A	ENSP00000246081:p.Val97Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DW22|Q3MIU6	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	p.V97M	ENST00000246081.2	37	c.289	CCDS13124.1	20	.	.	.	.	.	.	.	.	.	.	G	18.62	3.664029	0.67700	.	.	ENSG00000125879	ENST00000246081	D	0.81659	-1.52	5.78	4.83	0.62350	Src homology-3 domain (2);Variant SH3 (1);	0.121377	0.56097	D	0.000026	D	0.88980	0.6585	M	0.84326	2.69	0.44042	D	0.996772	D	0.76494	0.999	D	0.68943	0.961	D	0.89477	0.3747	10	0.51188	T	0.08	-26.7788	12.5413	0.56172	0.0772:0.0:0.9228:0.0	.	97	Q9NRC9	OTOR_HUMAN	M	97	ENSP00000246081:V97M	ENSP00000246081:V97M	V	+	1	0	OTOR	16678581	0.997000	0.39634	0.867000	0.34043	0.803000	0.45373	2.821000	0.48065	1.456000	0.47831	0.655000	0.94253	GTG	OTOR	-	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain	ENSG00000125879		0.493	OTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOR	HGNC	protein_coding	OTTHUMT00000078108.2	57	0.00	0	G			16730581	16730581	+1	no_errors	ENST00000246081	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.963	A
P2RY10	27334	genome.wustl.edu	37	X	78216689	78216689	+	Silent	SNP	C	C	T			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chrX:78216689C>T	ENST00000171757.2	+	4	952	c.672C>T	c.(670-672)tcC>tcT	p.S224S	P2RY10_ENST00000544091.1_Silent_p.S224S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CTACTATATCCTTGAGACAGC	0.488																																						dbGAP											0													124.0	101.0	109.0					X																	78216689		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.672C>T	X.37:g.78216689C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTE5|Q4VBN7|Q86V16	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.S224	ENST00000171757.2	37	c.672	CCDS14442.1	X																																																																																			P2RY10	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000078589		0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY10	HGNC	protein_coding	OTTHUMT00000057323.1	65	0.00	0	C			78216689	78216689	+1	no_errors	ENST00000171757	ensembl	human	known	69_37n	silent	46	17.86	10	SNP	0.092	T
PIEZO1	9780	genome.wustl.edu	37	16	88790292	88790292	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr16:88790292T>C	ENST00000301015.9	-	31	4568	c.4322A>G	c.(4321-4323)cAg>cGg	p.Q1441R		NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1441					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GAAGGCACTCTGTGCCGACGG	0.627																																						dbGAP											0													76.0	73.0	74.0					16																	88790292		692	1591	2283	-	-	-	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.4322A>G	16.37:g.88790292T>C	ENSP00000301015:p.Gln1441Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.Q1441R	ENST00000301015.9	37	c.4322	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.32|13.32	2.201574|2.201574	0.38905|0.38905	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000301015|ENST00000474606	T|.	0.72282|.	-0.64|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.068185|.	0.64402|.	D|.	0.000016|.	T|T	0.57504|0.57504	0.2058|0.2058	L|L	0.38953|0.38953	1.18|1.18	0.80722|0.80722	D|D	1|1	D|.	0.58620|.	0.983|.	P|.	0.55615|.	0.78|.	T|T	0.54761|0.54761	-0.8245|-0.8245	10|5	0.15952|.	T|.	0.53|.	-37.7299|-37.7299	14.3438|14.3438	0.66646|0.66646	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1441|.	Q92508|.	PIEZ1_HUMAN|.	R|G	1441|115	ENSP00000301015:Q1441R|.	ENSP00000301015:Q1441R|.	Q|R	-|-	2|1	0|2	FAM38A|FAM38A	87317793|87317793	0.997000|0.997000	0.39634|0.39634	0.998000|0.998000	0.56505|0.56505	0.169000|0.169000	0.22640|0.22640	1.785000|1.785000	0.38684|0.38684	2.095000|2.095000	0.63458|0.63458	0.459000|0.459000	0.35465|0.35465	CAG|AGA	PIEZO1	-	NULL	ENSG00000103335		0.627	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	37	0.00	0	T	NM_014745		88790292	88790292	-1	no_errors	ENST00000301015	ensembl	human	novel	69_37n	missense	20	28.57	8	SNP	1.000	C
SLC6A9	6536	genome.wustl.edu	37	1	44476442	44476442	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr1:44476442C>T	ENST00000360584.2	-	3	553	c.362G>A	c.(361-363)gGc>gAc	p.G121D	SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.G67D|SLC6A9_ENST00000492434.2_Intron|SLC6A9_ENST00000372310.3_Missense_Mutation_p.G48D|SLC6A9_ENST00000372306.3_Missense_Mutation_p.G48D|SLC6A9_ENST00000537678.1_Intron	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	121					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCAGACATTGCCCAGGCCCAC	0.637																																						dbGAP											0													192.0	153.0	166.0					1																	44476442		2203	4300	6503	-	-	-	SO:0001583	missense	0			S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.362G>A	1.37:g.44476442C>T	ENSP00000353791:p.Gly121Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1	p.G121D	ENST00000360584.2	37	c.362	CCDS41317.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.329498	0.95733	.	.	ENSG00000196517	ENST00000372306;ENST00000372310;ENST00000360584;ENST00000357730;ENST00000528803;ENST00000466926	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.94085	0.8104	H	0.96489	3.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.95707	0.8754	10	0.87932	D	0	.	17.3604	0.87348	0.0:1.0:0.0:0.0	.	48;48;67;121	B7Z8W5;P48067-2;P48067-3;P48067	.;.;.;SC6A9_HUMAN	D	48;48;121;67;67;102	ENSP00000361380:G48D;ENSP00000361384:G48D;ENSP00000353791:G121D;ENSP00000350362:G67D;ENSP00000435652:G67D;ENSP00000433241:G102D	ENSP00000350362:G67D	G	-	2	0	SLC6A9	44249029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.646000	0.83445	2.623000	0.88846	0.591000	0.81541	GGC	SLC6A9	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000196517		0.637	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	SLC6A9	HGNC	protein_coding	OTTHUMT00000022825.2	72	0.00	0	C	NM_201649		44476442	44476442	-1	no_errors	ENST00000360584	ensembl	human	known	69_37n	missense	44	30.16	19	SNP	1.000	T
SOX15	6665	genome.wustl.edu	37	17	7491739	7491739	+	Missense_Mutation	SNP	T	T	G			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr17:7491739T>G	ENST00000250055.2	-	2	1152	c.659A>C	c.(658-660)aAc>aCc	p.N220T	MPDU1_ENST00000423172.2_Intron|SOX15_ENST00000538513.2_Missense_Mutation_p.N220T	NM_006942.1	NP_008873.1	O60248	SOX15_HUMAN	SRY (sex determining region Y)-box 15	220					cell differentiation (GO:0030154)|chromatin organization (GO:0006325)|male gonad development (GO:0008584)|myoblast development (GO:0048627)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G0 to G1 transition (GO:0070318)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue regeneration (GO:0043403)	cytoplasm (GO:0005737)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|prostate(1)	2						AAGGGGAGGGTTGTATGGAGT	0.622																																						dbGAP											0													112.0	126.0	121.0					17																	7491739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ006222	CCDS32549.1	17p13.1	2014-08-12	2002-07-22	2002-07-26	ENSG00000129194	ENSG00000129194		"""SRY (sex determining region Y)-boxes"""	11196	protein-coding gene	gene with protein product		601297	"""SRY (sex determining region Y)-box 20"""	SOX20		8978787, 9730625	Standard	NM_006942		Approved	SOX27, SOX26	uc002ghz.1	O60248	OTTHUMG00000178146	ENST00000250055.2:c.659A>C	17.37:g.7491739T>G	ENSP00000355354:p.Asn220Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWU7|D3DTQ0|P35717|Q9Y6W7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.N220T	ENST00000250055.2	37	c.659	CCDS32549.1	17	.	.	.	.	.	.	.	.	.	.	T	10.70	1.422741	0.25639	.	.	ENSG00000129194	ENST00000250055;ENST00000538513	D;D	0.95412	-3.7;-3.7	4.89	-1.72	0.08107	.	2.837540	0.00966	N	0.003179	D	0.90642	0.7065	L	0.27053	0.805	0.44587	D	0.997556	B	0.30793	0.295	B	0.27608	0.081	T	0.75169	-0.3412	10	0.24483	T	0.36	.	9.179	0.37129	0.0:0.4533:0.0:0.5467	.	220	O60248	SOX15_HUMAN	T	220	ENSP00000355354:N220T;ENSP00000439311:N220T	ENSP00000355354:N220T	N	-	2	0	SOX15	7432463	0.000000	0.05858	0.011000	0.14972	0.208000	0.24298	-1.029000	0.03585	-0.347000	0.08299	0.454000	0.30748	AAC	SOX15	-	NULL	ENSG00000129194		0.622	SOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX15	HGNC	protein_coding	OTTHUMT00000440757.1	64	0.00	0	T	NM_006942		7491739	7491739	-1	no_errors	ENST00000250055	ensembl	human	known	69_37n	missense	58	10.77	7	SNP	0.009	G
SPTB	6710	genome.wustl.edu	37	14	65266493	65266493	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr14:65266493T>C	ENST00000389721.5	-	8	1068	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	SPTB_ENST00000389720.3_Missense_Mutation_p.T346A|SPTB_ENST00000389722.3_Missense_Mutation_p.T346A|SPTB_ENST00000556626.1_Missense_Mutation_p.T346A|SPTB_ENST00000542895.1_Missense_Mutation_p.T346A	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	346					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCGGTAGGTGCTGAAGGCC	0.617																																						dbGAP											0													62.0	55.0	57.0					14																	65266493		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.1036A>G	14.37:g.65266493T>C	ENSP00000374371:p.Thr346Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.T346A	ENST00000389721.5	37	c.1036	CCDS32100.1	14	.	.	.	.	.	.	.	.	.	.	T	14.30	2.493278	0.44352	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	5.31	4.09	0.47781	.	0.108661	0.64402	D	0.000007	T	0.37758	0.1015	L	0.38953	1.18	0.43761	D	0.99627	B;B	0.23540	0.087;0.078	B;B	0.30716	0.119;0.074	T	0.18713	-1.0328	10	0.27785	T	0.31	.	10.2642	0.43445	0.1481:0.0:0.0:0.8519	.	346;350	P11277;Q59FP5	SPTB1_HUMAN;.	A	350;346;346;346;346;346	ENSP00000374372:T346A;ENSP00000451752:T346A;ENSP00000374371:T346A;ENSP00000443882:T346A;ENSP00000374370:T346A	ENSP00000374370:T346A	T	-	1	0	SPTB	64336246	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	2.037000	0.41174	2.007000	0.58848	0.460000	0.39030	ACC	SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.617	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	22	0.00	0	T			65266493	65266493	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	missense	13	40.00	10	SNP	1.000	C
TMEM247	388946	genome.wustl.edu	37	2	46707888	46707888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr2:46707888delG	ENST00000434431.1	+	2	462	c.462delG	c.(460-462)gagfs	p.E154fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGCAGCAAGAGGCGGCGCCCC	0.682																																						dbGAP											0										59,2867		9,41,1413	15.0	19.0	18.0			1.5	0.0	2	dbSNP_130	19	233,5079		9,215,2432	no	frameshift	LOC388946	NM_001145051.2		18,256,3845	A1A1,A1R,RR		4.3863,2.0164,3.5445			46707888	292,7946	690	1589	2279	-	-	-	SO:0001589	frameshift_variant	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.462delG	2.37:g.46707888delG	ENSP00000388684:p.Glu154fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	NULL	p.A155fs	ENST00000434431.1	37	c.462	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.682	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	20	0.00	0	G	NM_001145051		46707888	46707888	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	frame_shift_del	7	30.00	3	DEL	0.083	-
ZNF566	84924	genome.wustl.edu	37	19	36940860	36940860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr19:36940860delT	ENST00000434377.2	-	5	357	c.276delA	c.(274-276)aaafs	p.K92fs	ZNF566_ENST00000493391.1_5'UTR|ZNF566_ENST00000424129.2_Frame_Shift_Del_p.K92fs|ZNF566_ENST00000454319.1_Frame_Shift_Del_p.K93fs|ZNF566_ENST00000392170.2_Frame_Shift_Del_p.K93fs	NM_032838.4	NP_116227.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	92					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CATAAATTTCTTTCTTCAGAA	0.338																																						dbGAP											0													65.0	71.0	69.0					19																	36940860		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK074497	CCDS12494.1, CCDS46061.1, CCDS74346.1	19q13.12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25919	protein-coding gene	gene with protein product						12477932	Standard	NM_001145343		Approved	FLJ14779, MGC12515	uc010xtf.2	Q969W8		ENST00000434377.2:c.276delA	19.37:g.36940860delT	ENSP00000415520:p.Lys92fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL95|Q2M3J1	Frame_Shift_Del	DEL	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.E94fs	ENST00000434377.2	37	c.279	CCDS12494.1	19																																																																																			ZNF566	-	NULL	ENSG00000186017		0.338	ZNF566-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF566	HGNC	protein_coding	OTTHUMT00000341054.1	31	0.00	0	T	NM_032838		36940860	36940860	-1	no_errors	ENST00000392170	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	0.479	-
ZNF574	64763	genome.wustl.edu	37	19	42585066	42585066	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr19:42585066G>A	ENST00000600245.1	+	2	2963	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000222339.7_Missense_Mutation_p.D860N|ZNF574_ENST00000359044.4_Missense_Mutation_p.D770N			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	770					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CCCATGTCCAGACTGTGGCAA	0.602																																						dbGAP											0													143.0	138.0	140.0					19																	42585066		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.2308G>A	19.37:g.42585066G>A	ENSP00000469029:p.Asp770Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D860N	ENST00000600245.1	37	c.2578	CCDS12596.1	19	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415846	0.62511	.	.	ENSG00000105732	ENST00000222339;ENST00000359044;ENST00000535775	T;T	0.39406	3.2;1.08	5.5	5.5	0.81552	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073652	0.53938	D	0.000044	T	0.50871	0.1641	N	0.19112	0.55	0.41702	D	0.989408	D;D	0.76494	0.995;0.999	D;D	0.68943	0.917;0.961	T	0.56625	-0.7948	10	0.72032	D	0.01	-24.7669	18.151	0.89674	0.0:0.0:1.0:0.0	.	770;859	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	N	860;770;377	ENSP00000222339:D860N;ENSP00000351939:D770N	ENSP00000222339:D860N	D	+	1	0	ZNF574	47276906	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.807000	0.47955	2.579000	0.87056	0.650000	0.86243	GAC	ZNF574	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105732		0.602	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF574	HGNC	protein_coding	OTTHUMT00000463458.1	20	0.00	0	G	NM_022752		42585066	42585066	+1	no_errors	ENST00000222339	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	A
ZNF777	27153	genome.wustl.edu	37	7	149129243	149129243	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SB-01A-11D-A142-09	TCGA-A1-A0SB-10B-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	db9d40fb-bfce-4c3b-a6c2-41c5c88982f1	a3254f8e-3bbd-42fc-abea-a5f25b7648b3	g.chr7:149129243G>A	ENST00000247930.4	-	6	2443	c.2120C>T	c.(2119-2121)tCg>tTg	p.S707L		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAGCAGGTGCGAGGGGCGGCT	0.637																																						dbGAP											0													45.0	57.0	53.0					7																	149129243		2195	4297	6492	-	-	-	SO:0001583	missense	0			AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.2120C>T	7.37:g.149129243G>A	ENSP00000247930:p.Ser707Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2R2|Q8N659	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S707L	ENST00000247930.4	37	c.2120	CCDS43675.1	7	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130078	0.56721	.	.	ENSG00000196453	ENST00000247930	T	0.17691	2.26	4.52	4.52	0.55395	.	0.380691	0.19334	N	0.116836	T	0.43389	0.1245	M	0.78637	2.42	0.32880	D	0.510402	D	0.71674	0.998	D	0.75484	0.986	T	0.59343	-0.7472	10	0.72032	D	0.01	-10.1069	14.7565	0.69569	0.0:0.0:1.0:0.0	.	707	Q9ULD5-2	.	L	707	ENSP00000247930:S707L	ENSP00000247930:S707L	S	-	2	0	ZNF777	148760176	0.682000	0.27624	1.000000	0.80357	0.875000	0.50365	2.311000	0.43717	2.071000	0.62044	0.313000	0.20887	TCG	ZNF777	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196453		0.637	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF777	HGNC	protein_coding	OTTHUMT00000352708.1	21	0.00	0	G	NM_015694		149129243	149129243	-1	no_errors	ENST00000247930	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
