#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
ABCA6	23460	genome.wustl.edu	37	17	67080627	67080627	+	Silent	SNP	C	C	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr17:67080627C>T	ENST00000284425.2	-	33	4380	c.4206G>A	c.(4204-4206)ctG>ctA	p.L1402L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1402	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCTGCTCATGCAGTTTGAAAG	0.438																																						dbGAP											0													248.0	216.0	227.0					17																	67080627		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4206G>A	17.37:g.67080627C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1402	ENST00000284425.2	37	c.4206	CCDS11683.1	17																																																																																			ABCA6	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000154262		0.438	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	28	0.00	0	C	NM_080284		67080627	67080627	-1	no_errors	ENST00000284425	ensembl	human	known	69_37n	silent	19	32.14	9	SNP	0.939	T
ADAMTS6	11174	genome.wustl.edu	37	5	64593049	64593049	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr5:64593049T>C	ENST00000536360.1	-	11	2206	c.1393A>G	c.(1393-1395)Ata>Gta	p.I465V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	0	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		gaaccacttattgaatcaccg	0.383																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000536360.1:c.1393A>G	5.37:g.64593049T>C	ENSP00000440995:p.Ile465Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfscan_Peptidase_M12B	p.I465V	ENST00000536360.1	37	c.1393		5	.	.	.	.	.	.	.	.	.	.	T	9.243	1.038666	0.19669	.	.	ENSG00000049192	ENST00000536360	T	0.58210	0.35	5.39	4.22	0.49857	.	.	.	.	.	T	0.53142	0.1778	.	.	.	0.20638	N	0.99988	.	.	.	.	.	.	T	0.50021	-0.8876	6	0.87932	D	0	.	7.9585	0.30057	0.0:0.0909:0.0:0.9091	.	.	.	.	V	465	ENSP00000440995:I465V	ENSP00000440995:I465V	I	-	1	0	ADAMTS6	64628805	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.486000	0.35530	1.058000	0.40530	0.528000	0.53228	ATA	ADAMTS6	-	NULL	ENSG00000049192		0.383	ADAMTS6-201	KNOWN	basic	protein_coding	ADAMTS6	HGNC	protein_coding		68	0.00	0	T	NM_197941		64593049	64593049	-1	no_errors	ENST00000536360	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18574056	18574056	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr9:18574056G>A	ENST00000380548.4	+	4	605	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	MIR3152_ENST00000579801.1_RNA|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.R89Q|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.R89Q|ADAMTSL1_ENST00000380570.4_Missense_Mutation_p.R89Q|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R89Q|ADAMTSL1_ENST00000431052.2_Missense_Mutation_p.R89Q	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	89						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGTGATTTCCGAGCTCAGCAA	0.468																																						dbGAP											0													133.0	128.0	130.0					9																	18574056		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.266G>A	9.37:g.18574056G>A	ENSP00000369921:p.Arg89Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt	p.R89Q	ENST00000380548.4	37	c.266	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.671149	0.96754	.	.	ENSG00000178031	ENST00000380548;ENST00000327883;ENST00000431052;ENST00000380570;ENST00000380566;ENST00000276935	T;T;T;T;T;T	0.06371	3.31;5.5;5.5;5.5;5.5;5.5	5.55	5.55	0.83447	.	.	.	.	.	T	0.41673	0.1169	H	0.96576	3.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.978	T	0.61262	-0.7098	9	0.87932	D	0	.	19.5044	0.95110	0.0:0.0:1.0:0.0	.	89;89	Q8N6G6;Q8N6G6-2	ATL1_HUMAN;.	Q	89	ENSP00000369921:R89Q;ENSP00000327887:R89Q;ENSP00000401157:R89Q;ENSP00000369944:R89Q;ENSP00000369940:R89Q;ENSP00000276935:R89Q	ENSP00000276935:R89Q	R	+	2	0	ADAMTSL1	18564056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.652000	0.98499	2.620000	0.88729	0.643000	0.83706	CGA	ADAMTSL1	-	NULL	ENSG00000178031		0.468	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	142	0.70	1	G			18574056	18574056	+1	no_errors	ENST00000327883	ensembl	human	known	69_37n	missense	85	10.53	10	SNP	1.000	A
ATG9A	79065	genome.wustl.edu	37	2	220087423	220087423	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr2:220087423G>T	ENST00000409618.1	-	11	2231	c.1792C>A	c.(1792-1794)Ctg>Atg	p.L598M	ATG9A_ENST00000361242.4_Missense_Mutation_p.L598M|ATG9A_ENST00000409422.1_Missense_Mutation_p.L537M|ATG9A_ENST00000396761.2_Missense_Mutation_p.L598M|AC068946.1_ENST00000408417.1_RNA			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	598					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAGGGAGCAGACCCCCTTGG	0.577																																						dbGAP											0													156.0	164.0	162.0					2																	220087423		2071	4205	6276	-	-	-	SO:0001583	missense	0			AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.1792C>A	2.37:g.220087423G>T	ENSP00000386710:p.Leu598Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3	p.L598M	ENST00000409618.1	37	c.1792	CCDS42820.1	2	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268498	0.40095	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000429920	T;T;T;T;T	0.33654	1.8;1.8;1.8;1.4;1.41	5.18	3.35	0.38373	.	0.823188	0.11239	N	0.584833	T	0.20659	0.0497	N	0.16903	0.455	0.23754	N	0.996931	B	0.27068	0.167	B	0.23716	0.048	T	0.19910	-1.0291	10	0.31617	T	0.26	-3.2746	6.0042	0.19537	0.078:0.1713:0.6302:0.1206	.	598	Q7Z3C6	ATG9A_HUMAN	M	598;598;598;537;157	ENSP00000379983:L598M;ENSP00000386710:L598M;ENSP00000355173:L598M;ENSP00000386535:L537M;ENSP00000400234:L157M	ENSP00000355173:L598M	L	-	1	2	ATG9A	219795667	0.849000	0.29639	0.995000	0.50966	0.917000	0.54804	2.825000	0.48096	0.731000	0.32448	-0.150000	0.13652	CTG	ATG9A	-	NULL	ENSG00000198925		0.577	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATG9A	HGNC	protein_coding	OTTHUMT00000335930.1	64	0.00	0	G	NM_024085		220087423	220087423	-1	no_errors	ENST00000361242	ensembl	human	known	69_37n	missense	51	15.00	9	SNP	0.583	T
C18orf63	644041	genome.wustl.edu	37	18	72009541	72009541	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr18:72009541G>T	ENST00000579455.1	+	10	1103	c.774G>T	c.(772-774)atG>atT	p.M258I		NM_001174123.1	NP_001167594.1	Q68DL7	CR063_HUMAN	chromosome 18 open reading frame 63	258										breast(1)	1						ATTTCAAAATGCTCGGAGAAA	0.353																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS54189.1	18q22.3	2012-10-24			ENSG00000206043	ENSG00000206043			40037	protein-coding gene	gene with protein product							Standard	NM_001174123		Approved	DKFZP781G0119	uc002llj.3	Q68DL7	OTTHUMG00000178987	ENST00000579455.1:c.774G>T	18.37:g.72009541G>T	ENSP00000464330:p.Met258Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NME8	Missense_Mutation	SNP	NULL	p.M258I	ENST00000579455.1	37	c.774	CCDS54189.1	18	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424570	0.25639	.	.	ENSG00000206043	ENST00000382675	.	.	.	5.28	4.39	0.52855	.	0.110171	0.40469	N	0.001081	T	0.42268	0.1195	M	0.68317	2.08	0.25190	N	0.990132	.	.	.	.	.	.	T	0.30446	-0.9978	7	0.23302	T	0.38	6.6719	5.0781	0.14642	0.1519:0.1991:0.649:0.0	.	.	.	.	I	258	.	ENSP00000372122:M258I	M	+	3	0	C18orf63	70160521	1.000000	0.71417	0.992000	0.48379	0.760000	0.43138	2.200000	0.42724	2.623000	0.88846	0.460000	0.39030	ATG	C18orf63	-	NULL	ENSG00000206043		0.353	C18orf63-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	C18orf63	HGNC	protein_coding	OTTHUMT00000444246.2	76	0.00	0	G	NM_001174123		72009541	72009541	+1	no_errors	ENST00000382675	ensembl	human	known	69_37n	missense	30	11.76	4	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68842369	68842369	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr16:68842369delA	ENST00000261769.5	+	4	621	c.430delA	c.(430-432)aacfs	p.N144fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.N144fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	144					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACATTTCCCAACTCCTCTCC	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)											87.0	87.0	87.0					16																	68842369		2198	4300	6498	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.430delA	16.37:g.68842369delA	ENSP00000261769:p.Asn144fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N144fs	ENST00000261769.5	37	c.430	CCDS10869.1	16																																																																																			CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	136	0.00	0	A	NM_004360		68842369	68842369	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	83	15.15	15	DEL	0.000	-
MIR1247	100302145	genome.wustl.edu	37	14	102018949	102018949	+	IGR	SNP	G	G	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr14:102018949G>T								RP11-1029J19.2 (95495 upstream) : DIO3OS (7674 downstream)																							ACAACGAAGAGCAGGAAGGCC	0.552																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															14.37:g.102018949G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		14																																																																																			DIO3OS	-	-	ENSG00000258498	0	0.552					DIO3OS	HGNC			101	0.00	0	G			102018949	102018949	-1	no_errors	ENST00000553575	ensembl	human	known	69_37n	rna	46	14.81	8	SNP	0.000	T
DSG3	1830	genome.wustl.edu	37	18	29037028	29037028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr18:29037028delA	ENST00000257189.4	+	3	240	c.157delA	c.(157-159)aaafs	p.K53fs		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	53	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGAATGGGTGAAATTTGCCAA	0.353																																						dbGAP											0													135.0	130.0	132.0					18																	29037028		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.157delA	18.37:g.29037028delA	ENSP00000257189:p.Lys53fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2V2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.K53fs	ENST00000257189.4	37	c.157	CCDS11898.1	18																																																																																			DSG3	-	NULL	ENSG00000134757		0.353	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	43	0.00	0	A	NM_001944		29037028	29037028	+1	no_errors	ENST00000257189	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	1.000	-
FAM216A	29902	genome.wustl.edu	37	12	110924358	110924358	+	Silent	SNP	A	A	G			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr12:110924358A>G	ENST00000377673.5	+	5	968	c.456A>G	c.(454-456)agA>agG	p.R152R		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	152																	CTCATCACAGAAGCCGCCTTA	0.478																																						dbGAP											0													154.0	162.0	159.0					12																	110924358		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.456A>G	12.37:g.110924358A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NH30|Q99776	Silent	SNP	NULL	p.R152	ENST00000377673.5	37	c.456	CCDS31899.1	12																																																																																			FAM216A	-	NULL	ENSG00000204856		0.478	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM216A	HGNC	protein_coding	OTTHUMT00000404616.1	67	0.00	0	A	NM_013300		110924358	110924358	+1	no_errors	ENST00000377673	ensembl	human	known	69_37n	silent	38	22.45	11	SNP	0.638	G
FLG	2312	genome.wustl.edu	37	1	152283588	152283588	+	Silent	SNP	C	C	T	rs550073054		TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr1:152283588C>T	ENST00000368799.1	-	3	3809	c.3774G>A	c.(3772-3774)tcG>tcA	p.S1258S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1258	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTGGACCCCGATGATTGTT	0.572									Ichthyosis				C|||	1	0.000199681	0.0	0.0014	5008	,	,		20590	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													270.0	256.0	261.0					1																	152283588		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.3774G>A	1.37:g.152283588C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01720|Q5T583|Q9UC71	Silent	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.S1258	ENST00000368799.1	37	c.3774	CCDS30860.1	1																																																																																			FLG	-	pfam_Filaggrin	ENSG00000143631		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	327	0.00	0	C	NM_002016		152283588	152283588	-1	no_errors	ENST00000368799	ensembl	human	known	69_37n	silent	217	22.97	65	SNP	0.000	T
FRS3	10817	genome.wustl.edu	37	6	41738550	41738550	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr6:41738550C>T	ENST00000373018.3	-	7	1537	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H	FRS3_ENST00000259748.2_Missense_Mutation_p.R429H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	429					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCCCTTAGGGCGGTCTCCACC	0.637																																						dbGAP											0													24.0	31.0	29.0					6																	41738550		2201	4298	6499	-	-	-	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.1286G>A	6.37:g.41738550C>T	ENSP00000362109:p.Arg429His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.R429H	ENST00000373018.3	37	c.1286	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	C	13.05	2.122752	0.37436	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.23147	1.92;1.92	5.76	0.19	0.15125	.	0.873331	0.09971	N	0.732260	T	0.06690	0.0171	L	0.36672	1.1	0.26602	N	0.973008	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	10	0.44086	T	0.13	-16.879	5.7356	0.18065	0.0:0.4486:0.1962:0.3551	.	429	O43559	FRS3_HUMAN	H	429	ENSP00000362109:R429H;ENSP00000259748:R429H	ENSP00000259748:R429H	R	-	2	0	FRS3	41846528	0.000000	0.05858	0.967000	0.41034	0.995000	0.86356	-0.840000	0.04363	0.274000	0.22072	0.655000	0.94253	CGC	FRS3	-	NULL	ENSG00000137218		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	44	0.00	0	C	NM_006653		41738550	41738550	-1	no_errors	ENST00000259748	ensembl	human	known	69_37n	missense	39	11.36	5	SNP	0.966	T
GAS6	2621	genome.wustl.edu	37	13	114549506	114549506	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr13:114549506C>T	ENST00000327773.6	-	4	483	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	GAS6_ENST00000355761.4_Missense_Mutation_p.V59M|GAS6_ENST00000357389.3_Missense_Mutation_p.V113M|GAS6_ENST00000476291.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	113					activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				TTACTTTGCACGCAGGTGGCG	0.537																																						dbGAP											0													145.0	127.0	133.0					13																	114549506		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.337G>A	13.37:g.114549506C>T	ENSP00000331831:p.Val113Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.V113M	ENST00000327773.6	37	c.337	CCDS45072.1	13	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933877	0.52866	.	.	ENSG00000183087	ENST00000357389;ENST00000355761;ENST00000327773	D;D;D	0.91011	-2.77;-2.31;-2.76	3.81	3.81	0.43845	.	.	.	.	.	D	0.92241	0.7539	L	0.49455	1.56	0.58432	D	0.999994	D	0.76494	0.999	P	0.62649	0.905	D	0.92409	0.5936	9	0.66056	D	0.02	-12.8923	11.9203	0.52787	0.0:1.0:0.0:0.0	.	113	Q14393-2	.	M	113;59;113	ENSP00000349962:V113M;ENSP00000348003:V59M;ENSP00000331831:V113M	ENSP00000331831:V113M	V	-	1	0	GAS6	113564437	0.713000	0.27926	0.026000	0.17262	0.005000	0.04900	3.076000	0.50081	2.061000	0.61500	0.561000	0.74099	GTG	GAS6	-	NULL	ENSG00000183087		0.537	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	106	0.00	0	C	NM_000820		114549506	114549506	-1	no_errors	ENST00000357389	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.331	T
GDPD4	220032	genome.wustl.edu	37	11	76969468	76969468	+	Missense_Mutation	SNP	G	G	A	rs186975278	byFrequency	TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr11:76969468G>A	ENST00000376217.2	-	10	1077	c.827C>T	c.(826-828)tCg>tTg	p.S276L	GDPD4_ENST00000315938.4_Missense_Mutation_p.S276L			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	276	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						ATTCAGAGTCGATAGGAAATC	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		20964	0.003		0.0	False		,,,				2504	0.0					dbGAP											0													139.0	134.0	136.0					11																	76969468		2200	4292	6492	-	-	-	SO:0001583	missense	0			AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.827C>T	11.37:g.76969468G>A	ENSP00000365390:p.Ser276Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z5B0	Missense_Mutation	SNP	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.S276L	ENST00000376217.2	37	c.827		11	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	16.26	3.072667	0.55646	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.11385	2.78;2.78	4.84	0.228	0.15364	.	0.492517	0.21895	N	0.067521	T	0.10337	0.0253	L	0.49256	1.55	0.09310	N	1	D	0.61697	0.99	P	0.45343	0.477	T	0.23190	-1.0195	10	0.33940	T	0.23	0.0266	6.9041	0.24299	0.0:0.3031:0.3506:0.3463	.	276	Q6W3E5-2	.	L	276	ENSP00000365390:S276L;ENSP00000320815:S276L	ENSP00000320815:S276L	S	-	2	0	GDPD4	76647116	0.179000	0.23135	0.000000	0.03702	0.059000	0.15707	2.080000	0.41586	0.210000	0.20664	0.561000	0.74099	TCG	GDPD4	-	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000178795		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	GDPD4	HGNC	protein_coding	OTTHUMT00000382075.1	88	0.00	0	G	NM_182833		76969468	76969468	-1	no_errors	ENST00000376217	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.000	A
HECTD4	283450	genome.wustl.edu	37	12	112664523	112664523	+	Silent	SNP	T	T	C			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr12:112664523T>C	ENST00000430131.2	-	43	6773	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	HECTD4_ENST00000377560.5_Silent_p.L2126L|HECTD4_ENST00000550722.1_Silent_p.L2152L			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1876					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CTTCACAAAATAAGCTGTCTT	0.388																																						dbGAP											0													84.0	81.0	82.0					12																	112664523		1869	4124	5993	-	-	-	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5628A>G	12.37:g.112664523T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl	p.Y43C	ENST00000430131.2	37	c.128		12	.	.	.	.	.	.	.	.	.	.	T	9.769	1.172289	0.21704	.	.	ENSG00000173064	ENST00000550968	.	.	.	5.24	-1.38	0.09027	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54118	-0.8341	4	.	.	.	.	10.8882	0.46978	0.0:0.47:0.0:0.53	.	.	.	.	C	43	.	.	Y	-	2	0	C12orf51	111148906	0.090000	0.21635	0.994000	0.49952	0.996000	0.88848	-0.647000	0.05397	-0.195000	0.10382	0.383000	0.25322	TAT	HECTD4	-	NULL	ENSG00000173064		0.388	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding		61	0.00	0	T	NM_173813		112664523	112664523	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000550968	ensembl	human	putative	69_37n	missense	34	19.05	8	SNP	0.953	C
KIAA0825	285600	genome.wustl.edu	37	5	93820544	93820544	+	Missense_Mutation	SNP	T	T	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr5:93820544T>A	ENST00000513200.3	-	5	1134	c.1062A>T	c.(1060-1062)aaA>aaT	p.K354N	KIAA0825_ENST00000312498.7_Missense_Mutation_p.K354N|KIAA0825_ENST00000427991.2_Missense_Mutation_p.K354N	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	354										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						CTTTTTCCAGTTTCATAAAGG	0.338																																						dbGAP											0													110.0	94.0	99.0					5																	93820544		692	1587	2279	-	-	-	SO:0001583	missense	0			BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000513200.3:c.1062A>T	5.37:g.93820544T>A	ENSP00000424618:p.Lys354Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O94914|Q6ZNN2	Missense_Mutation	SNP	NULL	p.K354N	ENST00000513200.3	37	c.1062		5	.	.	.	.	.	.	.	.	.	.	T	10.56	1.384576	0.25031	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498	T;T;T	0.46819	0.86;0.86;0.86	4.92	-0.577	0.11727	.	.	.	.	.	T	0.36358	0.0964	L	0.44542	1.39	0.09310	N	1	B	0.26809	0.16	B	0.30646	0.118	T	0.32052	-0.9921	9	0.37606	T	0.19	.	5.9203	0.19078	0.0:0.3783:0.2309:0.3908	.	354	Q8IV33	K0825_HUMAN	N	354	ENSP00000424618:K354N;ENSP00000400288:K354N;ENSP00000312205:K354N	ENSP00000312205:K354N	K	-	3	2	KIAA0825	93846300	0.023000	0.18921	0.320000	0.25306	0.837000	0.47467	-1.147000	0.03188	-0.095000	0.12351	0.383000	0.25322	AAA	KIAA0825	-	NULL	ENSG00000185261		0.338	KIAA0825-001	KNOWN	not_organism_supported|basic	protein_coding	KIAA0825	HGNC	protein_coding	OTTHUMT00000254102.5	91	0.00	0	T	NM_173665		93820544	93820544	-1	no_errors	ENST00000427991	ensembl	human	known	69_37n	missense	54	14.29	9	SNP	0.017	A
LENG1	79165	genome.wustl.edu	37	19	54660549	54660549	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr19:54660549C>A	ENST00000222224.3	-	3	713	c.527G>T	c.(526-528)aGt>aTt	p.S176I		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	176										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCTGCTGCGACTGCCTTCATC	0.602																																						dbGAP											0													99.0	90.0	93.0					19																	54660549		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.527G>T	19.37:g.54660549C>A	ENSP00000222224:p.Ser176Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9HCU7	Missense_Mutation	SNP	NULL	p.S176I	ENST00000222224.3	37	c.527	CCDS12881.1	19	.	.	.	.	.	.	.	.	.	.	T	8.600	0.886539	0.17540	.	.	ENSG00000105617	ENST00000222224	T	0.47869	0.83	5.43	-6.49	0.01890	.	2.584210	0.02547	N	0.095205	T	0.28499	0.0705	L	0.28400	0.85	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07366	-1.0776	10	0.37606	T	0.19	18.8696	0.8208	0.01111	0.1921:0.309:0.1766:0.3222	.	176	Q96BZ8	LENG1_HUMAN	I	176	ENSP00000222224:S176I	ENSP00000222224:S176I	S	-	2	0	LENG1	59352361	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.219000	0.02973	-1.155000	0.02822	-2.617000	0.00157	AGT	LENG1	-	NULL	ENSG00000105617		0.602	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LENG1	HGNC	protein_coding	OTTHUMT00000142159.1	177	0.56	1	C	NM_024316		54660549	54660549	-1	no_errors	ENST00000222224	ensembl	human	known	69_37n	missense	105	12.50	15	SNP	0.000	A
MAML2	84441	genome.wustl.edu	37	11	95712202	95712202	+	Silent	SNP	A	A	G			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr11:95712202A>G	ENST00000524717.1	-	5	4665	c.3381T>C	c.(3379-3381)gaT>gaC	p.D1127D		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	1127					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AATCAATGAAATCAGCATCAC	0.418			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	dbGAP		Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													111.0	107.0	108.0					11																	95712202		1876	4111	5987	-	-	-	SO:0001819	synonymous_variant	0			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.3381T>C	11.37:g.95712202A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.D1127	ENST00000524717.1	37	c.3381	CCDS44714.1	11																																																																																			MAML2	-	NULL	ENSG00000184384		0.418	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	87	0.00	0	A			95712202	95712202	-1	no_errors	ENST00000440572	ensembl	human	known	69_37n	silent	45	22.41	13	SNP	0.884	G
LRRC7	57554	genome.wustl.edu	37	1	70385459	70385459	+	Intron	SNP	C	C	T	rs556745620		TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr1:70385459C>T	ENST00000035383.5	+	6	563				LRRC7_ENST00000415775.2_Intron|PIN1P1_ENST00000412108.1_RNA|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GCGCGGCGGACGGGGGAGATG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		16057	0.0		0.0	False		,,,				2504	0.001					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-11731C>T	1.37:g.70385459C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			PIN1P1	-	-	ENSG00000229359		0.642	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	HGNC	protein_coding	OTTHUMT00000131261.1	89	0.00	0	C	NM_020794		70385459	70385459	+1	no_errors	ENST00000412108	ensembl	human	known	69_37n	rna	69	13.75	11	SNP	0.785	T
PLXNA3	55558	genome.wustl.edu	37	X	153694400	153694400	+	Silent	SNP	G	G	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chrX:153694400G>A	ENST00000369682.3	+	14	2830	c.2655G>A	c.(2653-2655)ccG>ccA	p.P885P		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	885	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTCCATTCCGGCCGAGTACA	0.662																																						dbGAP											0													76.0	70.0	72.0					X																	153694400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2655G>A	X.37:g.153694400G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.P885	ENST00000369682.3	37	c.2655	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000130827		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	107	0.00	0	G	NM_017514		153694400	153694400	+1	no_errors	ENST00000369682	ensembl	human	known	69_37n	silent	82	13.68	13	SNP	0.004	A
PSG5	5673	genome.wustl.edu	37	19	43689261	43689261	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr19:43689261G>T	ENST00000366175.3	-	2	233	c.103C>A	c.(103-105)Caa>Aaa	p.Q35K	PSG5_ENST00000407568.1_Missense_Mutation_p.Q35K|PSG5_ENST00000342951.6_Missense_Mutation_p.Q35K|PSG5_ENST00000404580.1_Missense_Mutation_p.Q35K|PSG5_ENST00000599812.1_Missense_Mutation_p.Q35K|PSG5_ENST00000407356.1_Missense_Mutation_p.Q35K|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	35	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ATCGTGACTTGAGCAGTGATA	0.468																																						dbGAP											0													187.0	182.0	184.0					19																	43689261		2203	4295	6498	-	-	-	SO:0001583	missense	0				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.103C>A	19.37:g.43689261G>T	ENSP00000382334:p.Gln35Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q35K	ENST00000366175.3	37	c.103	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	N	7.783	0.709908	0.15239	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01647	4.71;4.71;4.71;4.71;4.71	1.56	1.56	0.23342	Immunoglobulin-like fold (1);	.	.	.	.	T	0.04543	0.0124	L	0.55017	1.72	0.09310	N	1	B;B;B	0.27117	0.168;0.012;0.162	B;B;P	0.45610	0.306;0.128;0.487	T	0.40098	-0.9581	9	0.56958	D	0.05	.	6.6274	0.22837	0.0:0.0:1.0:0.0	.	35;35;35	E9PC55;Q15228;Q15238	.;.;PSG5_HUMAN	K	35	ENSP00000382334:Q35K;ENSP00000386008:Q35K;ENSP00000386053:Q35K;ENSP00000344413:Q35K;ENSP00000385250:Q35K	ENSP00000344413:Q35K	Q	-	1	0	PSG5	48381101	0.056000	0.20664	0.025000	0.17156	0.010000	0.07245	1.897000	0.39799	1.190000	0.43042	0.418000	0.28097	CAA	PSG5	-	NULL	ENSG00000204941		0.468	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	HGNC	protein_coding	OTTHUMT00000323055.1	251	0.40	1	G	NM_002781		43689261	43689261	-1	no_errors	ENST00000342951	ensembl	human	known	69_37n	missense	157	10.23	18	SNP	0.029	T
PTEN	5728	genome.wustl.edu	37	10	89717748	89717749	+	Nonsense_Mutation	DNP	TC	TC	AA	rs587781354		TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr10:89717748_89717749TC>AA	ENST00000371953.3	+	7	2130_2131	c.773_774TC>AA	c.(772-774)tTC>tAA	p.F258*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	258	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.F258fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAGAGTTCTTCCACAAACAGA	0.371		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	51	Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|breast(3)|ovary(3)|endometrium(2)|urinary_tract(2)|soft_tissue(1)																																								-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	Exception_encountered	10.37:g.89717748_89717749delinsAA	ENSP00000361021:p.Phe258*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.F258Y|p.F258L	ENST00000371953.3	37	c.773|c.774	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.371	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	90|89	0.00	0	T|C	NM_000314		89717748|89717749	89717748|89717749	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	57|58	32.56	28	SNP	1.000	A
QARS	5859	genome.wustl.edu	37	3	49141350	49141350	+	Missense_Mutation	SNP	G	G	T	rs201359259		TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr3:49141350G>T	ENST00000306125.6	-	3	658	c.321C>A	c.(319-321)ttC>ttA	p.F107L	QARS_ENST00000420147.2_Missense_Mutation_p.F125L|QARS_ENST00000414533.1_Missense_Mutation_p.F96L|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	107					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	ATTCCCGCTCGAAGTCCACAG	0.582																																						dbGAP											0													83.0	74.0	77.0					3																	49141350		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.321C>A	3.37:g.49141350G>T	ENSP00000307567:p.Phe107Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWJ2	Nonsense_Mutation	SNP	pfam_Gln-tRNA-synth_Ib_RNA-bd_N	p.S91*	ENST00000306125.6	37	c.272	CCDS2788.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236738	0.79800	.	.	ENSG00000172053	ENST00000306125;ENST00000414533;ENST00000420147;ENST00000452739;ENST00000417025	T;T	0.23950	1.91;1.88	5.91	2.29	0.28610	Glutaminyl-tRNA synthetase, class Ib, non-specific RNA-binding domain, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38719	0.1051	M	0.70595	2.14	0.58432	D	0.999993	D;D;D	0.60160	0.968;0.987;0.987	P;P;P	0.56216	0.748;0.615;0.794	T	0.07966	-1.0745	10	0.40728	T	0.16	-13.2017	9.6301	0.39774	0.7276:0.0:0.2724:0.0	.	125;96;107	B7Z840;B4DWJ2;P47897	.;.;SYQ_HUMAN	L	107;96;125;149;107	ENSP00000307567:F107L;ENSP00000390015:F96L	ENSP00000307567:F107L	F	-	3	2	QARS	49116354	0.978000	0.34361	1.000000	0.80357	0.975000	0.68041	0.563000	0.23547	0.166000	0.19597	-0.238000	0.12139	TTC	QARS	-	NULL	ENSG00000172053		0.582	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QARS	HGNC	protein_coding	OTTHUMT00000345689.2	46	0.00	0	G	NM_005051		49141350	49141350	-1	no_errors	ENST00000418549	ensembl	human	known	69_37n	nonsense	25	19.35	6	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18893628	18893628	+	Silent	SNP	C	C	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr16:18893628C>A	ENST00000446231.2	-	10	1564	c.1152G>T	c.(1150-1152)gtG>gtT	p.V384V	SMG1_ENST00000565224.1_Silent_p.V358V|SMG1_ENST00000389467.3_Silent_p.V384V			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	384	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CATCTTCATCCACTGATTCCC	0.433																																						dbGAP											0													30.0	27.0	28.0					16																	18893628		1865	4086	5951	-	-	-	SO:0001819	synonymous_variant	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.1152G>T	16.37:g.18893628C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.G302*	ENST00000446231.2	37	c.904	CCDS45430.1	16																																																																																			SMG1	-	superfamily_ARM-type_fold	ENSG00000157106		0.433	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	318	0.00	0	C	NM_015092		18893628	18893628	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000561947	ensembl	human	novel	69_37n	nonsense	206	12.29	29	SNP	0.992	A
STK31	56164	genome.wustl.edu	37	7	23827646	23827646	+	Missense_Mutation	SNP	G	G	T			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr7:23827646G>T	ENST00000355870.3	+	21	2654	c.2535G>T	c.(2533-2535)ttG>ttT	p.L845F	STK31_ENST00000354639.3_Missense_Mutation_p.L822F|STK31_ENST00000433467.2_Missense_Mutation_p.L845F|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Missense_Mutation_p.L822F	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	845	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCATACATTGCATAAGGCTG	0.363																																						dbGAP											0													161.0	148.0	153.0					7																	23827646		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.2535G>T	7.37:g.23827646G>T	ENSP00000348132:p.Leu845Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom	p.L845F	ENST00000355870.3	37	c.2535	CCDS5386.1	7	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390063	0.61956	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	D;T;D;D	0.84298	-1.83;1.4;-1.83;-1.83	5.84	1.97	0.26223	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.92756	0.7697	M	0.92169	3.28	0.43598	D	0.99595	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.91355	0.5107	10	0.87932	D	0	-6.4537	9.4879	0.38942	0.3576:0.0:0.6424:0.0	.	845;845;845	B4DZ06;A4D159;Q9BXU1	.;.;STK31_HUMAN	F	845;845;822;822	ENSP00000348132:L845F;ENSP00000411852:L845F;ENSP00000346660:L822F;ENSP00000406146:L822F	ENSP00000346660:L822F	L	+	3	2	STK31	23794171	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	0.973000	0.29422	0.082000	0.17018	0.650000	0.86243	TTG	STK31	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196335		0.363	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK31	HGNC	protein_coding	OTTHUMT00000214036.2	109	0.00	0	G	NM_031414		23827646	23827646	+1	no_errors	ENST00000355870	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	0.999	T
SUPT3H	8464	genome.wustl.edu	37	6	44922335	44922335	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr6:44922335G>A	ENST00000371459.1	-	8	755	c.590C>T	c.(589-591)gCt>gTt	p.A197V	SUPT3H_ENST00000371460.1_Missense_Mutation_p.A208V|SUPT3H_ENST00000371461.2_Missense_Mutation_p.A208V|SUPT3H_ENST00000371458.1_5'UTR|SUPT3H_ENST00000306867.5_Missense_Mutation_p.A197V	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	279					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AAATTTGGAAGCTTTTTTGGC	0.328																																						dbGAP											0													107.0	105.0	106.0					6																	44922335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.590C>T	6.37:g.44922335G>A	ENSP00000360514:p.Ala197Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	pfam_TFIID-18,superfamily_Histone-fold	p.A208V	ENST00000371459.1	37	c.623	CCDS34465.1	6	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929327	0.73327	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.50277	0.75;0.77;0.77;0.75	5.34	4.46	0.54185	.	0.105696	0.64402	D	0.000004	T	0.40171	0.1106	L	0.56769	1.78	0.54753	D	0.999984	P;P	0.46952	0.887;0.851	P;B	0.46585	0.521;0.297	T	0.38628	-0.9652	10	0.48119	T	0.1	.	16.0285	0.80560	0.0:0.1346:0.8654:0.0	.	208;279	O75486-3;O75486	.;SUPT3_HUMAN	V	208;197;197;208	ENSP00000360515:A208V;ENSP00000360514:A197V;ENSP00000306718:A197V;ENSP00000360516:A208V	ENSP00000306718:A197V	A	-	2	0	SUPT3H	45030313	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.600000	0.82769	1.237000	0.43756	0.555000	0.69702	GCT	SUPT3H	-	NULL	ENSG00000196284		0.328	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SUPT3H	HGNC	protein_coding	OTTHUMT00000106911.2	86	0.00	0	G	NM_181356		44922335	44922335	-1	no_errors	ENST00000371460	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	A
UROD	7389	genome.wustl.edu	37	1	45480829	45480829	+	Intron	SNP	T	T	C	rs13948	byFrequency	TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr1:45480829T>C	ENST00000246337.4	+	9	1061				UROD_ENST00000494399.1_Intron	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase						heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	uroporphyrinogen decarboxylase activity (GO:0004853)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					tttttgttgctgttgttcatt	0.383									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T|||	1238	0.247204	0.1589	0.4107	5008	,	,		24691	0.2877		0.2127	False		,,,				2504	0.2444					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	PCT-II	BC001778	CCDS518.1	1p34	2012-10-02			ENSG00000126088	ENSG00000126088	4.1.1.37		12591	protein-coding gene	gene with protein product		613521				3015909, 3460962	Standard	NM_000374		Approved		uc001cna.2	P06132	OTTHUMG00000008949	ENST00000246337.4:c.942+151T>C	1.37:g.45480829T>C		Somatic	931	WXS	Illumina GAIIx	Phase_IV	A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0	RNA	SNP	-	NULL	ENST00000246337.4	37	NULL	CCDS518.1	1																																																																																			UROD	-	-	ENSG00000126088		0.383	UROD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UROD	HGNC	protein_coding	OTTHUMT00000024803.1	35	0.00	0	T	NM_000374		45480829	45480829	+1	no_errors	ENST00000465678	ensembl	human	known	69_37n	rna	14	17.65	3	SNP	0.001	C
ZNF335	63925	genome.wustl.edu	37	20	44596921	44596922	+	Intron	INS	-	-	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr20:44596921_44596922insA	ENST00000322927.2	-	4	621				ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTGGGGTCTTACCATCATCTG	0.634																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.520+1->T	20.37:g.44596922_44596922dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLG7|Q548D0|Q9H684	Splice_Site	INS	-	e3+2	ENST00000322927.2	37	c.520+2_520+1	CCDS13389.1	20																																																																																			ZNF335	-	-	ENSG00000198026		0.634	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	94	0.00	0	-	NM_022095		44596921	44596922	-1	no_errors	ENST00000322927	ensembl	human	known	69_37n	splice_site_ins	54	20.59	14	INS	0.981:1.000	A
ZNF335	63925	genome.wustl.edu	37	20	44596921	44596922	+	Intron	INS	-	-	A			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr20:44596921_44596922insA	ENST00000322927.2	-	4	621				ZNF335_ENST00000426788.1_Intron|ZNF335_ENST00000494955.1_5'UTR	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTGGGGTCTTACCATCATCTG	0.634																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.520+1->T	20.37:g.44596922_44596922dupA		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DLG7|Q548D0|Q9H684	Splice_Site	INS	-	e3+2	ENST00000322927.2	37	c.520+2_520+1	CCDS13389.1	20																																																																																			ZNF335	-	-	ENSG00000198026		0.634	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	94	0	0	0	NM_022095		44596921	44596922	-1	no_errors	ENST00000322927	ensembl	human	known	69_37n	splice_site_ins	54	20.59	14	INS	0.981:1.000	A
ZSWIM7	125150	genome.wustl.edu	37	17	15897104	15897104	+	Intron	DEL	G	G	-			TCGA-GM-A4E0-01A-12D-A25Q-09	TCGA-GM-A4E0-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	8b2454dd-d46c-46a7-adda-9f5085a6af93	3ebc1283-9ccc-4278-808b-f7a6bda7fc5a	g.chr17:15897104delG	ENST00000399277.1	-	2	174				ZSWIM7_ENST00000472495.1_Intron|ZSWIM7_ENST00000486655.1_Intron|ZSWIM7_ENST00000399280.2_Intron	NM_001042697.1|NM_001042698.1	NP_001036162.1|NP_001036163.1	Q19AV6	ZSWM7_HUMAN	zinc finger, SWIM-type containing 7						double-strand break repair via homologous recombination (GO:0000724)|protein stabilization (GO:0050821)	nucleus (GO:0005634)|Shu complex (GO:0097196)	zinc ion binding (GO:0008270)			upper_aerodigestive_tract(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0827)		TGTAAAATGAGAATGGAAAAA	0.279																																						dbGAP											0													50.0	51.0	51.0					17																	15897104		1813	4066	5879	-	-	-	SO:0001627	intron_variant	0			AK093384	CCDS42266.1	17p11.2	2014-02-12			ENSG00000214941	ENSG00000214941		"""Zinc fingers, SWIM-type"""	26993	protein-coding gene	gene with protein product	"""SWIM domain containing Srs2 interacting protein 1"""	614535				16710300	Standard	NM_001042698		Approved	SWS1	uc002gpf.3	Q19AV6	OTTHUMG00000059308	ENST00000399277.1:c.77-12C>-	17.37:g.15897104delG		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000399277.1	37	NULL	CCDS42266.1	17																																																																																			ZSWIM7	-	-	ENSG00000214941		0.279	ZSWIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM7	HGNC	protein_coding	OTTHUMT00000131736.1	30	0.00	0	G	NM_001042697		15897104	15897104	-1	no_errors	ENST00000475498	ensembl	human	known	69_37n	rna	8	20.00	2	DEL	0.003	-
