#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_ORegAnno_bin	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
ARHGEF6	9459	genome.wustl.edu	37	X	135827435	135827435	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chrX:135827435G>C	ENST00000250617.6	-	4	1611	c.406C>G	c.(406-408)Cag>Gag	p.Q136E	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	136					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACTGCTCCCTGTGGGTTTGTC	0.423																																						dbGAP											0													222.0	201.0	208.0					X																	135827435		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.406C>G	X.37:g.135827435G>C	ENSP00000250617:p.Gln136Glu		A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.Q136E	ENST00000250617.6	37	c.406	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564759	0.27915	.	.	ENSG00000129675	ENST00000250617	T	0.54866	0.55	5.15	3.21	0.36854	.	0.549745	0.20754	N	0.086295	T	0.37705	0.1013	L	0.38175	1.15	0.27018	N	0.964525	B	0.14012	0.009	B	0.11329	0.006	T	0.11567	-1.0582	10	0.27082	T	0.32	.	7.8094	0.29221	0.0929:0.0:0.6567:0.2504	.	136	Q15052	ARHG6_HUMAN	E	136	ENSP00000250617:Q136E	ENSP00000250617:Q136E	Q	-	1	0	ARHGEF6	135655101	0.996000	0.38824	1.000000	0.80357	0.921000	0.55340	2.036000	0.41165	2.145000	0.66743	0.529000	0.55759	CAG	ARHGEF6	-	NULL	ENSG00000129675		0.423	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	HGNC	protein_coding	OTTHUMT00000058511.2	95	0.00	0	G	NM_004840		135827435	135827435	-1	no_errors	ENST00000250617	ensembl	human	known	69_37n	missense	183	30.15	79	SNP	0.259	C
C15orf59	388135	genome.wustl.edu	37	15	74032293	74032293	+	Missense_Mutation	SNP	T	T	G	rs186014243		TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr15:74032293T>G	ENST00000569673.1	-	3	2051	c.847A>C	c.(847-849)Aca>Cca	p.T283P	C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.T283P			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	283										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTAGTGGCTGTGTAGGGCAGA	0.542																																						dbGAP											0													90.0	98.0	96.0					15																	74032293		2198	4297	6495	-	-	-	SO:0001583	missense	0				CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.847A>C	15.37:g.74032293T>G	ENSP00000457205:p.Thr283Pro			Missense_Mutation	SNP	superfamily_Polyketide_synth_docking	p.T283P	ENST00000569673.1	37	c.847	CCDS32289.1	15	654	0.29945054945054944	104	0.21138211382113822	111	0.30662983425414364	214	0.3741258741258741	225	0.29683377308707126	T	16.25	3.069457	0.55539	.	.	ENSG00000205363	ENST00000379822	.	.	.	5.1	3.75	0.43078	.	0.291126	0.32244	N	0.006376	T	0.00012	0.0000	L	0.36672	1.1	0.34691	P	0.274282	B	0.25105	0.118	B	0.31245	0.126	T	0.34477	-0.9827	8	0.59425	D	0.04	.	7.3865	0.26884	0.0:0.2349:0.0:0.7651	.	283	Q2T9L4	CO059_HUMAN	P	283	.	ENSP00000369150:T283P	T	-	1	0	C15orf59	71819346	1.000000	0.71417	0.984000	0.44739	0.952000	0.60782	2.118000	0.41949	1.906000	0.55180	0.459000	0.35465	ACA	C15orf59	-	NULL	ENSG00000205363		0.542	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf59	HGNC	protein_coding	OTTHUMT00000419077.2	29	0.00	0	T	NM_001039614		74032293	74032293	-1	no_errors	ENST00000379822	ensembl	human	known	69_37n	missense	17	46.88	15	SNP	0.995	G
CBFB	865	genome.wustl.edu	37	16	67070640	67070643	+	Frame_Shift_Del	DEL	AGAA	AGAA	-			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	AGAA	AGAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr16:67070640_67070643delAGAA	ENST00000290858.6	+	3	525_528	c.264_267delAGAA	c.(262-267)ttagaafs	p.LE88fs	CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Frame_Shift_Del_p.LE88fs	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	88					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		ATGTCGACTTAGAAAGAGAAGCAG	0.417			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.264_267delAGAA	16.37:g.67070640_67070643delAGAA	ENSP00000290858:p.Leu88fs		A8K347|Q13124|Q9HCT2	Frame_Shift_Del	DEL	pfam_CBF_beta,superfamily_CBF_beta	p.R90fs	ENST00000290858.6	37	c.264_267	CCDS10827.1	16																																																																																			CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.417	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	41	0.00	0	AGAA	NM_001755		67070640	67070643	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	frame_shift_del	44	37.14	26	DEL	1.000:1.000:1.000:1.000	-
DRC7	84229	genome.wustl.edu	37	16	57762336	57762336	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr16:57762336T>G	ENST00000360716.3	+	17	2452	c.2231T>G	c.(2230-2232)gTg>gGg	p.V744G	CCDC135_ENST00000394337.4_Missense_Mutation_p.V744G|CCDC135_ENST00000336825.8_Missense_Mutation_p.V679G			Q8IY82	CC135_HUMAN		744					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCGGCAGGTGGAGACCCAG	0.607																																						dbGAP											0													71.0	82.0	78.0					16																	57762336		2198	4298	6496	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.2231T>G	16.37:g.57762336T>G	ENSP00000353942:p.Val744Gly		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.V744G	ENST00000360716.3	37	c.2231	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	t	8.369	0.834787	0.16820	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.09538	3.13;2.97;3.13	5.26	4.16	0.48862	.	0.671677	0.14377	N	0.323376	T	0.13457	0.0326	M	0.68317	2.08	0.41426	D	0.987834	P;P	0.44044	0.825;0.469	P;B	0.44477	0.451;0.076	T	0.13176	-1.0519	10	0.23891	T	0.37	-23.7408	3.87	0.09033	0.1555:0.1686:0.0:0.6758	.	679;744	Q8IY82-2;Q8IY82	.;CC135_HUMAN	G	744;679;744	ENSP00000377869:V744G;ENSP00000338938:V679G;ENSP00000353942:V744G	ENSP00000338938:V679G	V	+	2	0	CCDC135	56319837	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	0.801000	0.27055	0.842000	0.35045	0.402000	0.26972	GTG	CCDC135	-	NULL	ENSG00000159625		0.607	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	13	0.00	0	T			57762336	57762336	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	9	52.63	10	SNP	0.992	G
CD33	945	genome.wustl.edu	37	19	51729330	51729330	+	Silent	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr19:51729330C>T	ENST00000262262.4	+	3	711	c.690C>T	c.(688-690)aaC>aaT	p.N230N	CD33_ENST00000436584.2_Silent_p.N103N|CD33_ENST00000391796.3_Silent_p.N230N|CD33_ENST00000421133.2_Silent_p.N103N	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	230					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	TCCAGCTCAACGTCACCTGTA	0.607																																						dbGAP											0													40.0	37.0	38.0					19																	51729330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.690C>T	19.37:g.51729330C>T			B4E3P8|C9JEN7|F8WAL2|Q8TD24	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.N230	ENST00000262262.4	37	c.690	CCDS33084.1	19																																																																																			CD33	-	smart_Ig_sub	ENSG00000105383		0.607	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD33	HGNC	protein_coding	OTTHUMT00000464199.2	26	0.00	0	C	NM_001772		51729330	51729330	+1	no_errors	ENST00000262262	ensembl	human	known	69_37n	silent	33	42.11	24	SNP	0.000	T
CDKN1B	1027	genome.wustl.edu	37	12	12871006	12871007	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr12:12871006_12871007insGG	ENST00000228872.4	+	1	949_950	c.233_234insGG	c.(232-237)gaggtgfs	p.V79fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.V79fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	79					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGTGGCAAGAGGTGGAGAAGG	0.589																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.234_235dupGG	12.37:g.12871007_12871008dupGG	ENSP00000228872:p.Val79fs		Q16307|Q5U0H2|Q9BUS6	Frame_Shift_Ins	INS	pfam_CDI	p.V79fs	ENST00000228872.4	37	c.233_234	CCDS8653.1	12																																																																																			CDKN1B	-	pfam_CDI	ENSG00000111276		0.589	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1B	HGNC	protein_coding	OTTHUMT00000313878.2	38	0.00	0	-	NM_004064		12871006	12871007	+1	no_errors	ENST00000228872	ensembl	human	known	69_37n	frame_shift_ins	34	19.05	8	INS	0.961:0.979	GG
CHD4	1108	genome.wustl.edu	37	12	6702279	6702279	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr12:6702279C>T	ENST00000357008.2	-	17	2793	c.2630G>A	c.(2629-2631)cGg>cAg	p.R877Q	CHD4_ENST00000544040.1_Missense_Mutation_p.R870Q|CHD4_ENST00000544484.1_Missense_Mutation_p.R874Q|CHD4_ENST00000309577.6_Missense_Mutation_p.R877Q	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	877	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GTTCTTCAGCCGATGGGCTTC	0.463																																					Colon(32;586 792 4568 16848 45314)	dbGAP											0													90.0	85.0	87.0					12																	6702279		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.2630G>A	12.37:g.6702279C>T	ENSP00000349508:p.Arg877Gln		Q8IXZ5	Missense_Mutation	SNP	pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R877Q	ENST00000357008.2	37	c.2630	CCDS8552.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.470463	0.96274	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56	5.3	5.3	0.74995	DEAD-like helicase (2);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97359	0.9136	M	0.80422	2.495	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.986	D	0.97943	1.0327	10	0.87932	D	0	-4.9516	18.9733	0.92724	0.0:1.0:0.0:0.0	.	877;877;870	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	Q	874;870;877;877;851	ENSP00000440392:R874Q;ENSP00000440542:R870Q;ENSP00000312419:R877Q;ENSP00000349508:R877Q	ENSP00000312419:R877Q	R	-	2	0	CHD4	6572540	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.461000	0.80834	2.487000	0.83934	0.467000	0.42956	CGG	CHD4	-	pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000111642		0.463	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD4	HGNC	protein_coding		29	0.00	0	C	NM_001273		6702279	6702279	-1	no_errors	ENST00000309577	ensembl	human	known	69_37n	missense	44	38.89	28	SNP	1.000	T
CNTNAP3B	728577	genome.wustl.edu	37	9	43822704	43822704	+	Missense_Mutation	SNP	G	G	A	rs62555056		TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr9:43822704G>A	ENST00000377564.3	+	8	1651	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	420	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.			V -> I (in Ref. 1; BAB70782). {ECO:0000305}.	cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGGGAGTTTCGTCCTCTTTCT	0.478																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1258G>A	9.37:g.43822704G>A	ENSP00000366787:p.Val420Ile		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.V420I	ENST00000377564.3	37	c.1258	CCDS55312.1	9	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473072	0.12461	.	.	ENSG00000154529	ENST00000377564;ENST00000341990;ENST00000403166	T	0.77620	-1.11	2.66	-5.32	0.02722	.	.	.	.	.	T	0.64091	0.2567	L	0.29908	0.895	0.80722	P	0.0	.	.	.	.	.	.	T	0.57883	-0.7734	6	0.22109	T	0.4	.	9.5395	0.39242	0.1327:0.5788:0.2884:0.0	.	.	.	.	I	420	ENSP00000366787:V420I	ENSP00000340890:V420I	V	+	1	0	CNTNAP3B	43762700	0.001000	0.12720	0.004000	0.12327	0.327000	0.28475	-1.620000	0.02046	-1.150000	0.02840	-0.717000	0.03617	GTC	CNTNAP3B	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000154529		0.478	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	20	0.00	0	G			43822704	43822704	+1	no_errors	ENST00000377564	ensembl	human	known	69_37n	missense	56	20.00	14	SNP	0.009	A
COL7A1	1294	genome.wustl.edu	37	3	48630811	48630811	+	Silent	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr3:48630811C>T	ENST00000328333.8	-	4	605	c.498G>A	c.(496-498)caG>caA	p.Q166Q	COL7A1_ENST00000454817.1_Silent_p.Q166Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	166	Nonhelical region (NC1).|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTTGACCCCCTGCCCCTTCA	0.607																																						dbGAP											0			GRCh37	CI962255	COL7A1	I							156.0	146.0	149.0					3																	48630811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.498G>A	3.37:g.48630811C>T			Q14054|Q16507	Silent	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.Q166	ENST00000328333.8	37	c.498	CCDS2773.1	3																																																																																			COL7A1	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000114270		0.607	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	43	0.00	0	C	NM_000094		48630811	48630811	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.992	T
CROCCP2	84809	genome.wustl.edu	37	1	16950346	16950346	+	lincRNA	SNP	A	A	C	rs9663015	byFrequency	TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr1:16950346A>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GTTCCCCCCAAGTCCCCAGCC	0.642													.|||	795	0.158746	0.121	0.1888	5008	,	,		64439	0.0843		0.1372	False		,,,				2504	0.2873					dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950346A>C			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.642	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	14	0.00	0	A	NR_026752.1		16950346	16950346	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	18	28.00	7	SNP	0.002	C
DUOX2	50506	genome.wustl.edu	37	15	45388167	45388167	+	Silent	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr15:45388167G>A	ENST00000603300.1	-	30	4141	c.3939C>T	c.(3937-3939)acC>acT	p.T1313T	DUOX2_ENST00000389039.6_Silent_p.T1313T	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1313	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGTACTCGGTGGTCCCCA	0.632																																						dbGAP											0													107.0	92.0	97.0					15																	45388167		2198	4298	6496	-	-	-	SO:0001819	synonymous_variant	0			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.3939C>T	15.37:g.45388167G>A			A8MQ13|D2XI64|Q9NR02|Q9UHF9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal	p.T1313	ENST00000603300.1	37	c.3939	CCDS10117.1	15																																																																																			DUOX2	-	pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl	ENSG00000140279		0.632	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DUOX2	HGNC	protein_coding		25	0.00	0	G	NM_014080		45388167	45388167	-1	no_errors	ENST00000389039	ensembl	human	known	69_37n	silent	27	46.00	23	SNP	0.076	A
EXTL3	2137	genome.wustl.edu	37	8	28595120	28595120	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr8:28595120C>G	ENST00000220562.4	+	5	3263	c.2361C>G	c.(2359-2361)taC>taG	p.Y787*	EXTL3_ENST00000523149.1_Nonsense_Mutation_p.Y403*|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	787					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTGGCTCTACAACTCCAACT	0.527																																						dbGAP											0													187.0	153.0	165.0					8																	28595120		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2361C>G	8.37:g.28595120C>G	ENSP00000220562:p.Tyr787*		D3DST8|O00225|Q53XT3	Nonsense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Y787*	ENST00000220562.4	37	c.2361	CCDS6070.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.844308|4.844308	0.91197|0.91197	.|.	.|.	ENSG00000012232|ENSG00000012232	ENST00000521473|ENST00000523149;ENST00000220562;ENST00000521532;ENST00000517738	.|.	.|.	.|.	4.94|4.94	2.99|2.99	0.34606|0.34606	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.25717|.	0.0626|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.30851|.	-0.9964|.	3|.	.|0.02654	.|T	.|1	-23.2032|-23.2032	11.7307|11.7307	0.51735|0.51735	0.0:0.8338:0.0:0.1662|0.0:0.8338:0.0:0.1662	.|.	.|.	.|.	.|.	E|X	121|403;787;85;33	.|.	.|ENSP00000220562:Y787X	Q|Y	+|+	1|3	0|2	EXTL3|EXTL3	28651039|28651039	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.912000|1.912000	0.39946|0.39946	1.322000|1.322000	0.45245|0.45245	0.650000|0.650000	0.86243|0.86243	CAA|TAC	EXTL3	-	pfam_HexNAc_Trfase_a	ENSG00000012232		0.527	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXTL3	HGNC	protein_coding	OTTHUMT00000219987.3	58	0.00	0	C	NM_001440		28595120	28595120	+1	no_errors	ENST00000220562	ensembl	human	known	69_37n	nonsense	98	37.34	59	SNP	1.000	G
FGFR1	2260	genome.wustl.edu	37	8	38314914	38314914	+	Silent	SNP	T	T	C			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr8:38314914T>C	ENST00000447712.2	-	2	992	c.51A>G	c.(49-51)acA>acG	p.T17T	FGFR1_ENST00000532791.1_Silent_p.T17T|FGFR1_ENST00000326324.6_Silent_p.T17T|FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397091.5_Silent_p.T17T|FGFR1_ENST00000397113.2_Silent_p.T17T|FGFR1_ENST00000397103.1_Silent_p.T17T|FGFR1_ENST00000356207.5_Silent_p.T17T|FGFR1_ENST00000397108.4_Silent_p.T17T|FGFR1_ENST00000425967.3_Silent_p.T50T|FGFR1_ENST00000341462.5_Silent_p.T17T	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	17					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGGTGCAGAGTGTGGCTGTGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	dbGAP		Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	0													71.0	62.0	65.0					8																	38314914		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.51A>G	8.37:g.38314914T>C			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.T50	ENST00000447712.2	37	c.150	CCDS6107.2	8																																																																																			FGFR1	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000077782		0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FGFR1	HGNC	protein_coding		39	0.00	0	T			38314914	38314914	-1	no_errors	ENST00000425967	ensembl	human	known	69_37n	silent	56	23.29	17	SNP	0.968	C
GATA2	2624	genome.wustl.edu	37	3	128200691	128200691	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr3:128200691C>T	ENST00000341105.2	-	5	1445	c.1114G>A	c.(1114-1116)Gcc>Acc	p.A372T	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000487848.1_Missense_Mutation_p.A372T|GATA2_ENST00000430265.2_Missense_Mutation_p.A358T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	372					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGGCCACAGGCGTTGCAGACA	0.647			Mis		AML(CML blast transformation)																																	dbGAP		Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													95.0	84.0	88.0					3																	128200691		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1114G>A	3.37:g.128200691C>T	ENSP00000345681:p.Ala372Thr		D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Missense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A372T	ENST00000341105.2	37	c.1114	CCDS3049.1	3	.	.	.	.	.	.	.	.	.	.	C	36	5.635951	0.96693	.	.	ENSG00000179348	ENST00000341105;ENST00000430265;ENST00000487848	D;D;D	0.99784	-6.74;-6.74;-6.74	4.95	4.95	0.65309	Zinc finger, NHR/GATA-type (1);Zinc finger, GATA-type (4);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.99238	4.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.95949	0.8953	10	0.87932	D	0	-11.2358	18.1809	0.89777	0.0:1.0:0.0:0.0	.	358;372	P23769-2;P23769	.;GATA2_HUMAN	T	372;358;372	ENSP00000345681:A372T;ENSP00000400259:A358T;ENSP00000417074:A372T	ENSP00000345681:A372T	A	-	1	0	GATA2	129683381	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.749000	0.85096	2.271000	0.75665	0.591000	0.81541	GCC	GATA2	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000179348		0.647	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	50	0.00	0	C	NM_032638		128200691	128200691	-1	no_errors	ENST00000341105	ensembl	human	known	69_37n	missense	21	18.52	5	SNP	1.000	T
HEATR4	399671	genome.wustl.edu	37	14	73976100	73976100	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr14:73976100G>A	ENST00000553558.1	-	8	1957	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	HEATR4_ENST00000560393.1_Missense_Mutation_p.R499W|HEATR4_ENST00000334988.2_Missense_Mutation_p.R546W	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	546										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GCTGCCATCCGCACATGGGCA	0.517																																						dbGAP											0													122.0	106.0	111.0					14																	73976100		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.1636C>T	14.37:g.73976100G>A	ENSP00000450444:p.Arg546Trp		B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.R546W	ENST00000553558.1	37	c.1636	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028412	0.75390	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.27557	1.66	5.56	2.37	0.29283	Armadillo-like helical (1);Armadillo-type fold (1);	0.592069	0.14905	N	0.291605	T	0.44477	0.1295	L	0.59436	1.845	0.26312	N	0.97781	D	0.76494	0.999	P	0.56088	0.791	T	0.37384	-0.9708	10	0.87932	D	0	-3.5399	13.35	0.60597	0.0:0.0:0.2839:0.7161	.	546	Q86WZ0	HEAT4_HUMAN	W	546;499	ENSP00000450444:R546W	ENSP00000335447:R499W	R	-	1	2	HEATR4	73045853	0.997000	0.39634	0.704000	0.30370	0.974000	0.67602	1.247000	0.32815	0.584000	0.29591	0.650000	0.86243	CGG	HEATR4	-	pfam_HEAT,superfamily_ARM-type_fold	ENSG00000187105		0.517	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	40	0.00	0	G	NM_203309		73976100	73976100	-1	no_errors	ENST00000334988	ensembl	human	known	69_37n	missense	58	32.56	28	SNP	0.975	A
KIAA2013	90231	genome.wustl.edu	37	1	11982841	11982841	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr1:11982841T>C	ENST00000376572.3	-	2	1924	c.1739A>G	c.(1738-1740)gAt>gGt	p.D580G	KIAA2013_ENST00000376576.3_Missense_Mutation_p.D580G	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	580						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATGTGCTCATCATGGGCCAG	0.612																																						dbGAP											0													47.0	43.0	44.0					1																	11982841		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1739A>G	1.37:g.11982841T>C	ENSP00000365756:p.Asp580Gly		Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Missense_Mutation	SNP	pfam_DUF2152	p.D580G	ENST00000376572.3	37	c.1739	CCDS141.1	1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.461760	0.63513	.	.	ENSG00000116685	ENST00000376572;ENST00000376576	.	.	.	5.82	5.82	0.92795	.	0.055461	0.64402	D	0.000001	T	0.43433	0.1247	N	0.14661	0.345	0.54753	D	0.999981	P;P	0.38978	0.652;0.536	B;B	0.42738	0.275;0.396	T	0.48736	-0.9009	9	0.56958	D	0.05	-33.4692	15.3659	0.74523	0.0:0.0:0.0:1.0	.	580;580	Q8IYS2-2;Q8IYS2	.;K2013_HUMAN	G	580	.	ENSP00000365756:D580G	D	-	2	0	KIAA2013	11905428	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.944000	0.70219	2.232000	0.73038	0.528000	0.53228	GAT	KIAA2013	-	pfam_DUF2152	ENSG00000116685		0.612	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	43	0.00	0	T	NM_138346		11982841	11982841	-1	no_errors	ENST00000376576	ensembl	human	known	69_37n	missense	51	16.39	10	SNP	1.000	C
INSRR	3645	genome.wustl.edu	37	1	156823744	156823744	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr1:156823744T>A	ENST00000368195.3	-	2	833	c.437A>T	c.(436-438)gAg>gTg	p.E146V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	146					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTGGCAGAGCTCCTGGTTCTT	0.617																																						dbGAP											0													63.0	57.0	59.0					1																	156823744		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.437A>T	1.37:g.156823744T>A	ENSP00000357178:p.Glu146Val		O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E146V	ENST00000368195.3	37	c.437	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.815711	0.70912	.	.	ENSG00000027644	ENST00000368195	T	0.80304	-1.36	5.3	5.3	0.74995	EGF receptor, L domain (1);	0.000000	0.48767	D	0.000165	D	0.85991	0.5826	.	.	.	0.58432	D	0.999996	D	0.76494	0.999	D	0.68353	0.957	D	0.87197	0.2238	9	0.51188	T	0.08	.	13.1898	0.59704	0.0:0.0:0.0:1.0	.	146	P14616	INSRR_HUMAN	V	146	ENSP00000357178:E146V	ENSP00000357178:E146V	E	-	2	0	INSRR	155090368	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.033000	0.88852	2.009000	0.58944	0.455000	0.32223	GAG	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L	ENSG00000027644		0.617	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	17	0.00	0	T	NM_014215		156823744	156823744	-1	no_errors	ENST00000368195	ensembl	human	known	69_37n	missense	6	75.00	18	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141081609	141081609	+	Missense_Mutation	SNP	T	T	C			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr2:141081609T>C	ENST00000389484.3	-	81	13338	c.12367A>G	c.(12367-12369)Atc>Gtc	p.I4123V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4123					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTTCAAAGATATCGATCCTA	0.299										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	dbGAP											0													51.0	57.0	55.0					2																	141081609		2202	4286	6488	-	-	-	SO:0001583	missense	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12367A>G	2.37:g.141081609T>C	ENSP00000374135:p.Ile4123Val		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I4123V	ENST00000389484.3	37	c.12367	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.179|0.179	-1.064267|-1.064267	0.01934|0.01934	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.90261	.|-2.64	5.69|5.69	-0.53|-0.53	0.11898|0.11898	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.231563|0.231563	0.34580|0.34580	U|N	0.003857|0.003857	T|T	0.77974|0.77974	0.4211|0.4211	N|N	0.20610|0.20610	0.595|0.595	0.25955|0.25955	N|N	0.982704|0.982704	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.60434|0.60434	-0.7264|-0.7264	6|10	.|0.06891	.|T	.|0.86	.|.	10.1383|10.1383	0.42719|0.42719	0.0:0.2336:0.0:0.7664|0.0:0.2336:0.0:0.7664	.|.	.|4123	.|Q9NZR2	.|LRP1B_HUMAN	M|V	354|4123;4061	.|ENSP00000374135:I4123V	.|ENSP00000374135:I4123V	I|I	-|-	3|1	3|0	LRP1B|LRP1B	140798079|140798079	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.278000|0.278000	0.26855|0.26855	0.759000|0.759000	0.26461|0.26461	-0.011000|-0.011000	0.14247|0.14247	0.460000|0.460000	0.39030|0.39030	ATA|ATC	LRP1B	-	superfamily_Growth_fac_rcpt	ENSG00000168702		0.299	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	41	0.00	0	T	NM_018557		141081609	141081609	-1	no_errors	ENST00000389484	ensembl	human	known	69_37n	missense	53	29.33	22	SNP	1.000	C
MECOM	2122	genome.wustl.edu	37	3	168802736	168802736	+	Silent	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr3:168802736C>T	ENST00000464456.1	-	15	4290	c.3090G>A	c.(3088-3090)gcG>gcA	p.A1030A	MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000433243.2_Silent_p.A1040A|MECOM_ENST00000392736.3_Silent_p.A1039A|MECOM_ENST00000494292.1_Silent_p.A1218A|MECOM_ENST00000264674.3_Silent_p.A1104A|MECOM_ENST00000468789.1_Silent_p.A1039A|MECOM_ENST00000472280.1_Silent_p.A1040A	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGATTCCGCCGCAGCCCTGG	0.517																																						dbGAP											0													166.0	145.0	152.0					3																	168802736		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.3090G>A	3.37:g.168802736C>T			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A1218	ENST00000464456.1	37	c.3654	CCDS54669.1	3																																																																																			MECOM	-	NULL	ENSG00000085276		0.517	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351519.1	63	0.00	0	C	NM_005241, NM_004991		168802736	168802736	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	55	32.93	27	SNP	0.011	T
MUC12	10071	genome.wustl.edu	37	7	100637074	100637074	+	Missense_Mutation	SNP	G	G	A	rs200730762	byFrequency	TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr7:100637074G>A	ENST00000379442.3	+	5	3659	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	MUC12_ENST00000536621.1_Missense_Mutation_p.R1077H			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1220	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						ACAACCTCACGCATCAGTCCA	0.512													g|||	147	0.029353	0.0121	0.0389	5008	,	,		29769	0.0109		0.0209	False		,,,				2504	0.0736					dbGAP											0													9.0	8.0	8.0					7																	100637074		555	1239	1794	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.3659G>A	7.37:g.100637074G>A	ENSP00000368755:p.Arg1220His		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.R1220H	ENST00000379442.3	37	c.3659		7	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155707	0.01686	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.13657	2.57;2.57	0.713	-1.43	0.08884	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.33369	-0.9871	7	0.40728	T	0.16	.	3.6003	0.08021	0.0:0.2214:0.4862:0.2924	.	.	.	.	H	1220;1077	ENSP00000368755:R1220H;ENSP00000441929:R1077H	ENSP00000368755:R1220H	R	+	2	0	MUC12	100423794	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.324000	0.00512	-1.374000	0.02131	-1.406000	0.01132	CGC	MUC12	-	NULL	ENSG00000205277		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	12	0.00	0	G	XM_379904		100637074	100637074	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	99	22.05	28	SNP	0.000	A
NFIA	4774	genome.wustl.edu	37	1	61848997	61848997	+	Silent	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr1:61848997G>A	ENST00000403491.3	+	7	1519	c.1035G>A	c.(1033-1035)gcG>gcA	p.A345A	NFIA_ENST00000371189.4_Silent_p.A390A|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Silent_p.A345A|NFIA_ENST00000371185.2_Silent_p.A323A|NFIA_ENST00000485903.2_Intron|NFIA_ENST00000371184.2_Silent_p.A216A|NFIA_ENST00000407417.3_Silent_p.A337A|NFIA_ENST00000371191.1_Silent_p.A368A	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	345					DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TGGGAACGGCGTTCACACAGC	0.557																																						dbGAP											0													168.0	158.0	162.0					1																	61848997		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.1035G>A	1.37:g.61848997G>A			B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Silent	SNP	pfam_CTF/NFI,pfam_CTF/NFI_DNA-bd_N,pfam_MAD_homology1_Dwarfin-type,smart_MAD_homology1_Dwarfin-type,pfscan_CTF/NFI_DNA-bd-dom	p.A390	ENST00000403491.3	37	c.1170	CCDS44156.1	1																																																																																			NFIA	-	pfam_CTF/NFI	ENSG00000162599		0.557	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFIA	HGNC	protein_coding	OTTHUMT00000023799.3	61	0.00	0	G	NM_005595		61848997	61848997	+1	no_errors	ENST00000371189	ensembl	human	known	69_37n	silent	55	27.63	21	SNP	0.740	A
PAPOLB	56903	genome.wustl.edu	37	7	4900824	4900824	+	Silent	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr7:4900824C>T	ENST00000404991.1	-	1	801	c.615G>A	c.(613-615)cgG>cgA	p.R205R	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	205					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CATCGGTTACCCGGCAACCAT	0.398																																						dbGAP											0													73.0	77.0	76.0					7																	4900824		2190	4299	6489	-	-	-	SO:0001819	synonymous_variant	0			AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.615G>A	7.37:g.4900824C>T			Q75LH1|Q8NE14	Silent	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.R205	ENST00000404991.1	37	c.615		7																																																																																			PAPOLB	-	pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase	ENSG00000218823		0.398	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	PAPOLB	HGNC	protein_coding	OTTHUMT00000323797.1	49	0.00	0	C	NM_020144		4900824	4900824	-1	no_errors	ENST00000404991	ensembl	human	known	69_37n	silent	156	40.00	104	SNP	1.000	T
PCDHA3	56145	genome.wustl.edu	37	5	140180885	140180885	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr5:140180885G>A	ENST00000522353.2	+	1	103	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V35I|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTCCGTCTCTGAGGA	0.672																																						dbGAP											0													57.0	63.0	61.0					5																	140180885		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.103G>A	5.37:g.140180885G>A	ENSP00000429808:p.Val35Ile		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V35I	ENST00000522353.2	37	c.103	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	0.453	-0.893049	0.02491	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.35789	1.29;1.29	4.65	1.87	0.25490	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.455780	0.15518	N	0.258165	T	0.18718	0.0449	L	0.31157	0.91	0.09310	N	1	P;B	0.40578	0.722;0.387	B;B	0.32090	0.14;0.123	T	0.14755	-1.0461	10	0.13853	T	0.58	.	7.8651	0.29533	0.3237:0.0:0.6763:0.0	.	35;35	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	I	35	ENSP00000429808:V35I;ENSP00000434086:V35I	ENSP00000429808:V35I	V	+	1	0	PCDHA3	140161069	0.114000	0.22134	0.041000	0.18516	0.143000	0.21401	0.564000	0.23563	0.158000	0.19367	0.586000	0.80456	GTC	PCDHA3	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000255408		0.672	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	44	0.00	0	G	NM_018906		140180885	140180885	+1	no_errors	ENST00000522353	ensembl	human	known	69_37n	missense	39	32.76	19	SNP	0.046	A
PCDHGA3	56112	genome.wustl.edu	37	5	140725928	140725928	+	Silent	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr5:140725928G>A	ENST00000253812.6	+	1	2328	c.2328G>A	c.(2326-2328)gcG>gcA	p.A776A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	776					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAACTATGCGGACACGCTCA	0.542																																						dbGAP											0													75.0	83.0	80.0					5																	140725928		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.2328G>A	5.37:g.140725928G>A			Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A776	ENST00000253812.6	37	c.2328	CCDS47290.1	5																																																																																			PCDHGA3	-	NULL	ENSG00000254245		0.542	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	65	0.00	0	G	NM_018916		140725928	140725928	+1	no_errors	ENST00000253812	ensembl	human	known	69_37n	silent	96	25.58	33	SNP	0.000	A
RB1CC1	9821	genome.wustl.edu	37	8	53596281	53596281	+	Splice_Site	SNP	T	T	G			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr8:53596281T>G	ENST00000025008.5	-	5	722		c.e5-2		RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Splice_Site|RB1CC1_ENST00000435644.2_Splice_Site	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1						autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTGTATCCTATATTTTTTA	0.289																																					GBM(180;1701 2102 13475 42023 52570)	dbGAP											0													19.0	21.0	20.0					8																	53596281		2194	4293	6487	-	-	-	SO:0001630	splice_region_variant	0			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.199-2A>C	8.37:g.53596281T>G			Q86YR4|Q8WVU9|Q92601	Splice_Site	SNP	-	e3-2	ENST00000025008.5	37	c.199-2	CCDS34892.1	8	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820873	0.50633	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297;ENST00000518710;ENST00000517963	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.318	0.74095	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RB1CC1	53758834	1.000000	0.71417	0.970000	0.41538	0.561000	0.35649	7.328000	0.79160	2.080000	0.62538	0.455000	0.32223	.	RB1CC1	-	-	ENSG00000023287		0.289	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RB1CC1	HGNC	protein_coding	OTTHUMT00000378011.1	18	0.00	0	T	NM_014781	Intron	53596281	53596281	-1	no_errors	ENST00000025008	ensembl	human	known	69_37n	splice_site	22	29.03	9	SNP	1.000	G
SIX6	4990	genome.wustl.edu	37	14	60976319	60976319	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr14:60976319G>A	ENST00000327720.5	+	1	651	c.203G>A	c.(202-204)cGc>cAc	p.R68H		NM_007374.2	NP_031400.2	O95475	SIX6_HUMAN	SIX homeobox 6	68					organ morphogenesis (GO:0009887)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)	11				OV - Ovarian serous cystadenocarcinoma(108;0.088)		GGCAACTACCGCGAGCTCTAT	0.607																																						dbGAP											0													46.0	46.0	46.0					14																	60976319		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF141651	CCDS9747.1	14q23.1	2011-06-20	2007-07-13		ENSG00000184302	ENSG00000184302		"""Homeoboxes / SINE class"""	10892	protein-coding gene	gene with protein product		606326	"""sine oculis homeobox (Drosophila) homolog 6"", ""sine oculis homeobox homolog 6 (Drosophila)"""	OPTX2		10512683	Standard	NM_007374		Approved	Six9	uc001xfa.4	O95475	OTTHUMG00000152339	ENST00000327720.5:c.203G>A	14.37:g.60976319G>A	ENSP00000328596:p.Arg68His		Q6NT42|Q9P1X8	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.R68H	ENST00000327720.5	37	c.203	CCDS9747.1	14	.	.	.	.	.	.	.	.	.	.	G	19.73	3.882678	0.72410	.	.	ENSG00000184302	ENST00000327720	D	0.97209	-4.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	L	0.58101	1.795	0.80722	D	1	B	0.28636	0.218	B	0.20955	0.032	D	0.93869	0.7160	10	0.87932	D	0	.	18.6065	0.91268	0.0:0.0:1.0:0.0	.	68	O95475	SIX6_HUMAN	H	68	ENSP00000328596:R68H	ENSP00000328596:R68H	R	+	2	0	SIX6	60046072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.873000	0.98535	0.563000	0.77884	CGC	SIX6	-	NULL	ENSG00000184302		0.607	SIX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX6	HGNC	protein_coding	OTTHUMT00000276952.2	27	0.00	0	G			60976319	60976319	+1	no_errors	ENST00000327720	ensembl	human	known	69_37n	missense	25	41.86	18	SNP	1.000	A
SNX17	9784	genome.wustl.edu	37	2	27598768	27598768	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr2:27598768G>A	ENST00000233575.2	+	11	1256	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	SNX17_ENST00000537606.1_Missense_Mutation_p.R320H|SNX17_ENST00000543024.1_Missense_Mutation_p.R131H|ZNF513_ENST00000491924.1_5'Flank|SNX17_ENST00000542478.1_Missense_Mutation_p.R131H	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	345	FERM-like.|PTB-like F3 module.				cholesterol catabolic process (GO:0006707)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|receptor-mediated endocytosis (GO:0006898)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)	low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol binding (GO:0035091)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGAGGTGCGCCTGGAACTG	0.602																																						dbGAP											0													56.0	59.0	58.0					2																	27598768		2203	4300	6503	-	-	-	SO:0001583	missense	0			D31764	CCDS1750.1, CCDS58704.1	2p23-p22	2008-05-21			ENSG00000115234	ENSG00000115234		"""Sorting nexins"""	14979	protein-coding gene	gene with protein product		605963				12169628, 15769472	Standard	NM_014748		Approved	KIAA0064	uc002rkg.2	Q15036	OTTHUMG00000097781	ENST00000233575.2:c.1034G>A	2.37:g.27598768G>A	ENSP00000233575:p.Arg345His		B4DQM7|Q53HN7|Q6IAS3	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc	p.R345H	ENST00000233575.2	37	c.1034	CCDS1750.1	2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450921	0.43531	.	.	ENSG00000115234	ENST00000233575;ENST00000543024;ENST00000537606;ENST00000542478	T;T;T;T	0.30182	1.96;1.54;1.54;1.54	5.9	5.01	0.66863	.	0.133657	0.64402	D	0.000018	T	0.16854	0.0405	N	0.14661	0.345	0.45194	D	0.998203	B;B;B;B	0.25486	0.091;0.077;0.024;0.127	B;B;B;B	0.11329	0.004;0.003;0.003;0.006	T	0.05699	-1.0869	10	0.32370	T	0.25	-10.2202	10.3697	0.44046	0.1371:0.0:0.8629:0.0	.	320;333;325;345	B4DQM7;B4DTB8;B4DQ37;Q15036	.;.;.;SNX17_HUMAN	H	345;131;320;131	ENSP00000233575:R345H;ENSP00000441779:R131H;ENSP00000439208:R320H;ENSP00000442567:R131H	ENSP00000233575:R345H	R	+	2	0	SNX17	27452272	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.310000	0.59141	2.786000	0.95864	0.561000	0.74099	CGC	SNX17	-	NULL	ENSG00000115234		0.602	SNX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX17	HGNC	protein_coding	OTTHUMT00000215024.1	42	0.00	0	G	NM_014748		27598768	27598768	+1	no_errors	ENST00000233575	ensembl	human	known	69_37n	missense	22	33.33	11	SNP	1.000	A
STARD8	9754	genome.wustl.edu	37	X	67938428	67938428	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chrX:67938428C>T	ENST00000252336.6	+	5	1804	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	STARD8_ENST00000374599.3_Missense_Mutation_p.R558W|STARD8_ENST00000374597.3_Missense_Mutation_p.R478W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	478					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCCCCGTGAACGGCGCGATTC	0.612													C|||	1	0.000264901	0.0008	0.0	3775	,	,		11019	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	36.0	38.0					X																	67938428		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1432C>T	X.37:g.67938428C>T	ENSP00000252336:p.Arg478Trp		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.R558W	ENST00000252336.6	37	c.1672	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536270	0.45176	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	T;T;T	0.08984	3.03;3.03;3.03	4.98	4.11	0.48088	.	0.198614	0.31301	N	0.007894	T	0.24509	0.0594	M	0.81802	2.56	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.991	T	0.01312	-1.1388	10	0.87932	D	0	.	4.8629	0.13592	0.2135:0.6767:0.0:0.1098	.	558;478	Q92502-2;Q92502	.;STAR8_HUMAN	W	478;558;478	ENSP00000252336:R478W;ENSP00000363727:R558W;ENSP00000363725:R478W	ENSP00000252336:R478W	R	+	1	2	STARD8	67855153	0.980000	0.34600	0.988000	0.46212	0.181000	0.23173	0.652000	0.24888	2.056000	0.61249	0.600000	0.82982	CGG	STARD8	-	NULL	ENSG00000130052		0.612	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	30	0.00	0	C	NM_014725		67938428	67938428	+1	no_errors	ENST00000374599	ensembl	human	known	69_37n	missense	25	34.21	13	SNP	1.000	T
TBX3	6926	genome.wustl.edu	37	12	115115438	115115439	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr12:115115438_115115439insT	ENST00000257566.3	-	5	1276_1277	c.887_888insA	c.(886-888)aacfs	p.N296fs	TBX3_ENST00000349155.2_Frame_Shift_Ins_p.N276fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	296					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CAAAAGGGTTGTTGTCTATTTT	0.356																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.888dupA	12.37:g.115115440_115115440dupT	ENSP00000257566:p.Asn296fs		Q8TB20|Q9UKF8	Frame_Shift_Ins	INS	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.N296fs	ENST00000257566.3	37	c.888_887	CCDS9176.1	12																																																																																			TBX3	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box	ENSG00000135111		0.356	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	78	0.00	0	-	NM_016569, NM_005996		115115438	115115439	-1	no_errors	ENST00000257566	ensembl	human	known	69_37n	frame_shift_ins	169	19.52	41	INS	1.000:1.000	T
TCTN1	79600	genome.wustl.edu	37	12	111085646	111085646	+	Silent	SNP	A	A	C			TCGA-AQ-A1H3-01A-31D-A13L-09	TCGA-AQ-A1H3-10A-01D-A188-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	1fa2017e-ce08-4a16-bdf6-f9bf1296c834	0d4ff5c0-bbfc-46e3-bccf-30b130a954a1	g.chr12:111085646A>C	ENST00000551590.1	+	14	1869	c.1713A>C	c.(1711-1713)ccA>ccC	p.P571P	TCTN1_ENST00000397659.4_Silent_p.P576P|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397655.3_Silent_p.P557P|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	571					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCAGAGCTCCACCAGCCATCA	0.493																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1713A>C	12.37:g.111085646A>C			A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	NULL	p.H56P	ENST00000551590.1	37	c.167	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	a	9.920	1.211969	0.22289	.	.	ENSG00000204852	ENST00000549123;ENST00000481093	.	.	.	5.86	1.97	0.26223	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21827	-1.0234	4	.	.	.	-12.9973	2.4035	0.04407	0.1996:0.2321:0.449:0.1193	.	.	.	.	P	27;56	.	.	H	+	2	0	TCTN1	109570029	0.185000	0.23213	0.639000	0.29394	0.873000	0.50193	0.307000	0.19296	0.089000	0.17243	-0.147000	0.13772	CAC	TCTN1	-	NULL	ENSG00000204852		0.493	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	76	0.00	0	A	NM_024549		111085646	111085646	+1	no_stop_codon	ENST00000481093	ensembl	human	putative	69_37n	missense	57	30.49	25	SNP	0.226	C
