#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA13	154664	genome.wustl.edu	37	7	48443437	48443437	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr7:48443437C>T	ENST00000435803.1	+	39	12055	c.12031C>T	c.(12031-12033)Cgg>Tgg	p.R4011W		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4011	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTTGCTCCCGGCATAGCCT	0.552																																						dbGAP											0													63.0	63.0	63.0					7																	48443437		2008	4175	6183	-	-	-	SO:0001583	missense	0			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.12031C>T	7.37:g.48443437C>T	ENSP00000411096:p.Arg4011Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R4011W	ENST00000435803.1	37	c.12031	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543695	0.65198	.	.	ENSG00000179869	ENST00000435803	D	0.97378	-4.36	6.17	5.3	0.74995	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.49916	D	0.000133	D	0.99070	0.9681	H	0.99130	4.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98593	1.0655	10	0.87932	D	0	.	9.8057	0.40792	0.1381:0.7924:0.0:0.0695	.	1713;4011	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	W	4011	ENSP00000411096:R4011W	ENSP00000411096:R4011W	R	+	1	2	ABCA13	48413983	0.996000	0.38824	0.995000	0.50966	0.387000	0.30353	2.496000	0.45346	1.631000	0.50456	0.655000	0.94253	CGG	ABCA13	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000179869		0.552	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	179	0.00	0	C	NM_152701		48443437	48443437	+1	no_errors	ENST00000435803	ensembl	human	known	69_37n	missense	97	36.60	56	SNP	1.000	T
ACE	1636	genome.wustl.edu	37	17	61560393	61560393	+	Missense_Mutation	SNP	G	G	A	rs373076770		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr17:61560393G>A	ENST00000290866.4	+	9	1370	c.1346G>A	c.(1345-1347)aGt>aAt	p.S449N	ACE_ENST00000428043.1_Missense_Mutation_p.S449N|ACE_ENST00000577647.1_5'Flank|ACE_ENST00000421982.2_5'Flank|ACE_ENST00000413513.3_5'Flank|ACE_ENST00000584529.1_Intron|ACE_ENST00000290863.6_5'Flank|ACE_ENST00000490216.2_5'Flank|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	449	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCAACAGAAAGTGACATCAAT	0.537																																						dbGAP											0													110.0	116.0	114.0					17																	61560393		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1346G>A	17.37:g.61560393G>A	ENSP00000290866:p.Ser449Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.S449N	ENST00000290866.4	37	c.1346	CCDS11637.1	17	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274887	0.40194	.	.	ENSG00000159640	ENST00000290866;ENST00000428043	T;T	0.33438	1.41;1.41	5.15	2.09	0.27110	.	0.243209	0.49305	N	0.000150	T	0.30541	0.0768	M	0.73217	2.22	0.80722	D	1	B;B	0.20550	0.004;0.046	B;B	0.25291	0.006;0.059	T	0.06716	-1.0811	10	0.35671	T	0.21	-8.377	8.3155	0.32097	0.1404:0.1289:0.7306:0.0	.	449;449	P12821-2;P12821	.;ACE_HUMAN	N	449	ENSP00000290866:S449N;ENSP00000397593:S449N	ENSP00000290866:S449N	S	+	2	0	ACE	58914125	0.990000	0.36364	0.938000	0.37757	0.951000	0.60555	1.915000	0.39976	0.340000	0.23745	0.561000	0.74099	AGT	ACE	-	pfam_Peptidase_M2	ENSG00000159640		0.537	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	50	0.00	0	G			61560393	61560393	+1	no_errors	ENST00000290866	ensembl	human	known	69_37n	missense	32	38.46	20	SNP	0.991	A
ADPRH	141	genome.wustl.edu	37	3	119301234	119301234	+	Missense_Mutation	SNP	C	C	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr3:119301234C>A	ENST00000478399.1	+	2	1623	c.218C>A	c.(217-219)gCc>gAc	p.A73D	ADPRH_ENST00000357003.3_Missense_Mutation_p.A73D|ADPRH_ENST00000471850.1_Intron|RP11-190C22.9_ENST00000609385.1_RNA|ADPRH_ENST00000465513.1_Missense_Mutation_p.A73D|ADPRH_ENST00000478927.1_Missense_Mutation_p.A73D			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	73					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GCTGGGAAAGCCCCTAAGTTG	0.557																																					GBM(133;579 1804 5989 9967 40052)	dbGAP											0													94.0	86.0	89.0					3																	119301234		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.218C>A	3.37:g.119301234C>A	ENSP00000420200:p.Ala73Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8H1|D3DN83	Missense_Mutation	SNP	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	p.A73D	ENST00000478399.1	37	c.218	CCDS2990.1	3	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177414	0.01633	.	.	ENSG00000144843	ENST00000478399;ENST00000481816;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54	5.89	1.2	0.21068	.	0.819081	0.11521	N	0.555703	T	0.14960	0.0361	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23119	-1.0197	10	0.34782	T	0.22	-15.886	3.4637	0.07543	0.2755:0.3664:0.0:0.3581	.	73	P54922	ADPRH_HUMAN	D	73	ENSP00000420200:A73D;ENSP00000419703:A73D;ENSP00000417528:A73D;ENSP00000349496:A73D;ENSP00000417430:A73D	ENSP00000349496:A73D	A	+	2	0	ADPRH	120783924	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.905000	0.04075	0.260000	0.21731	-0.252000	0.11476	GCC	ADPRH	-	pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro	ENSG00000144843		0.557	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADPRH	HGNC	protein_coding	OTTHUMT00000355199.1	109	0.00	0	C	NM_001125		119301234	119301234	+1	no_errors	ENST00000357003	ensembl	human	known	69_37n	missense	62	31.11	28	SNP	0.000	A
ALDH1L2	160428	genome.wustl.edu	37	12	105464512	105464512	+	Missense_Mutation	SNP	G	G	C			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr12:105464512G>C	ENST00000258494.9	-	3	404	c.264C>G	c.(262-264)atC>atG	p.I88M	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.I88M	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	88	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CCACTTCTTTGATGGTCTTGC	0.443																																						dbGAP											0													169.0	138.0	148.0					12																	105464512		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.264C>G	12.37:g.105464512G>C	ENSP00000258494:p.Ile88Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.I88M	ENST00000258494.9	37	c.264	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550554	0.65311	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.76709	-1.04;-1.04	5.27	-0.521	0.11931	Formyl transferase, N-terminal (3);	0.094387	0.64402	D	0.000001	T	0.81650	0.4867	M	0.72118	2.19	0.58432	D	0.999998	P	0.45126	0.851	P	0.57152	0.814	T	0.79674	-0.1705	10	0.87932	D	0	.	8.5832	0.33642	0.1477:0.0:0.6782:0.1741	.	88	Q3SY69	AL1L2_HUMAN	M	88	ENSP00000258494:I88M;ENSP00000389608:I88M	ENSP00000258494:I88M	I	-	3	3	ALDH1L2	103988642	1.000000	0.71417	0.978000	0.43139	0.984000	0.73092	0.987000	0.29603	-0.045000	0.13468	0.655000	0.94253	ATC	ALDH1L2	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000136010		0.443	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	161	0.00	0	G	XM_090294		105464512	105464512	-1	no_errors	ENST00000258494	ensembl	human	known	69_37n	missense	165	11.76	22	SNP	1.000	C
ANXA11	311	genome.wustl.edu	37	10	81928877	81928878	+	Frame_Shift_Ins	INS	-	-	G	rs530828539|rs201734622	byFrequency	TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:81928877_81928878insG	ENST00000438331.1	-	6	890_891	c.408_409insC	c.(406-411)cccggafs	p.G137fs	ANXA11_ENST00000265447.4_Frame_Shift_Ins_p.G137fs|ANXA11_ENST00000372231.3_Frame_Shift_Ins_p.G137fs|ANXA11_ENST00000360615.4_Frame_Shift_Ins_p.G137fs|ANXA11_ENST00000537102.1_Frame_Shift_Ins_p.G104fs|ANXA11_ENST00000535999.1_Frame_Shift_Ins_p.G137fs|ANXA11_ENST00000422982.3_Frame_Shift_Ins_p.G137fs	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	137					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGCTGCTGTCCGGGGGGTGGCA	0.683																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.409dupC	10.37:g.81928883_81928883dupG	ENSP00000398610:p.Gly137fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVE7	Frame_Shift_Ins	INS	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII	p.G136fs	ENST00000438331.1	37	c.409_408	CCDS7364.1	10																																																																																			ANXA11	-	NULL	ENSG00000122359		0.683	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANXA11	HGNC	protein_coding	OTTHUMT00000049044.1	49	0.00	0	-	NM_145869		81928877	81928878	-1	no_errors	ENST00000265447	ensembl	human	known	69_37n	frame_shift_ins	40	11.11	5	INS	0.686:0.396	G
BEND5	79656	genome.wustl.edu	37	1	49242339	49242340	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr1:49242339_49242340insG	ENST00000371833.3	-	1	250_251	c.164_165insC	c.(163-165)ccgfs	p.P55fs	AGBL4_ENST00000371839.1_Intron|AGBL4_ENST00000371838.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	55						Golgi apparatus (GO:0005794)				large_intestine(5)|lung(2)|skin(1)	8						ggggggcgcgcggggggctctc	0.738																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC007932	CCDS552.2	1p33	2012-11-22	2008-10-03	2008-10-03	ENSG00000162373	ENSG00000162373		"""BEN domain containing"""	25668	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 165"""	C1orf165		12477932	Standard	NM_024603		Approved	FLJ11588	uc001crx.4	Q7L4P6	OTTHUMG00000008153	ENST00000371833.3:c.165dupC	1.37:g.49242345_49242345dupG	ENSP00000360899:p.Pro55fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQ27|Q96A62|Q9HAI3	Frame_Shift_Ins	INS	pfam_BEN_domain	p.R56fs	ENST00000371833.3	37	c.165_164	CCDS552.2	1																																																																																			BEND5	-	NULL	ENSG00000162373		0.738	BEND5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND5	HGNC	protein_coding	OTTHUMT00000022323.1	13	0.00	0	-	NM_024603		49242339	49242340	-1	no_errors	ENST00000371833	ensembl	human	known	69_37n	frame_shift_ins	3	57.14	4	INS	1.000:1.000	G
CEP290	80184	genome.wustl.edu	37	12	88533308	88533308	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr12:88533308delC	ENST00000552810.1	-	4	557	c.214delG	c.(214-216)gaafs	p.E72fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.E72fs|TMTC3_ENST00000266712.6_5'Flank	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	72					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTTTCTACTTCTTCCAAAGCC	0.303																																						dbGAP											0													82.0	80.0	81.0					12																	88533308		1810	4068	5878	-	-	-	SO:0001589	frameshift_variant	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.214delG	12.37:g.88533308delC	ENSP00000448012:p.Glu72fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	NULL	p.E72fs	ENST00000552810.1	37	c.214	CCDS55858.1	12																																																																																			CEP290	-	NULL	ENSG00000198707		0.303	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	63	0.00	0	C	NM_025114		88533308	88533308	-1	no_errors	ENST00000309041	ensembl	human	known	69_37n	frame_shift_del	59	22.50	18	DEL	1.000	-
CFH	3075	genome.wustl.edu	37	1	196684846	196684846	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr1:196684846C>G	ENST00000367429.4	+	11	1883	c.1643C>G	c.(1642-1644)aCt>aGt	p.T548S		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	548	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GGAAGCACCACTGGTTCCATA	0.353																																						dbGAP											0													238.0	225.0	229.0					1																	196684846		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1643C>G	1.37:g.196684846C>G	ENSP00000356399:p.Thr548Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.T548S	ENST00000367429.4	37	c.1643	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294776	0.23564	.	.	ENSG00000000971	ENST00000367429	T	0.75154	-0.91	5.42	-5.05	0.02955	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.54515	0.1863	L	0.56769	1.78	0.09310	N	1	B	0.29085	0.232	B	0.21546	0.035	T	0.49273	-0.8957	9	0.07990	T	0.79	.	0.2673	0.00227	0.2814:0.2796:0.1842:0.2548	.	548	P08603	CFAH_HUMAN	S	548	ENSP00000356399:T548S	ENSP00000356399:T548S	T	+	2	0	CFH	194951469	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.125000	0.03257	-0.676000	0.05238	0.655000	0.94253	ACT	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000000971		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	242	0.00	0	C	NM_000186		196684846	196684846	+1	no_errors	ENST00000367429	ensembl	human	known	69_37n	missense	109	32.30	52	SNP	0.000	G
DBX2	440097	genome.wustl.edu	37	12	45410172	45410172	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr12:45410172C>G	ENST00000332700.6	-	4	1088	c.917G>C	c.(916-918)aGt>aCt	p.S306T		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	306					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TGCCCCTGAACTCTCCTGGAT	0.493																																						dbGAP											0													92.0	95.0	94.0					12																	45410172		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.917G>C	12.37:g.45410172C>G	ENSP00000331470:p.Ser306Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S306T	ENST00000332700.6	37	c.917	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	C	4.567	0.105400	0.08731	.	.	ENSG00000185610	ENST00000332700	D	0.91577	-2.87	5.95	-0.107	0.13592	.	0.896241	0.09816	N	0.752137	T	0.80607	0.4655	N	0.24115	0.695	0.09310	N	1	B	0.14805	0.011	B	0.06405	0.002	T	0.63111	-0.6710	10	0.18276	T	0.48	-0.0287	6.722	0.23334	0.0:0.4466:0.2162:0.3372	.	306	Q6ZNG2	DBX2_HUMAN	T	306	ENSP00000331470:S306T	ENSP00000331470:S306T	S	-	2	0	DBX2	43696439	0.000000	0.05858	0.005000	0.12908	0.978000	0.69477	0.191000	0.17076	0.056000	0.16144	0.650000	0.86243	AGT	DBX2	-	NULL	ENSG00000185610		0.493	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	191	0.00	0	C	NM_001004329		45410172	45410172	-1	no_errors	ENST00000332700	ensembl	human	known	69_37n	missense	108	33.74	55	SNP	0.017	G
DCAF17	80067	genome.wustl.edu	37	2	172300067	172300067	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr2:172300067C>G	ENST00000375255.3	+	3	592	c.265C>G	c.(265-267)Cca>Gca	p.P89A	DCAF17_ENST00000539783.1_Missense_Mutation_p.P89A|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	89					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P89S(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						TTATGAAATGCCAAAATGTTC	0.318																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											115.0	106.0	109.0					2																	172300067		1799	4067	5866	-	-	-	SO:0001583	missense	0			AK023158	CCDS2243.2, CCDS54419.1	2q31.1	2014-01-28	2009-07-17	2009-07-17	ENSG00000115827	ENSG00000115827		"""DDB1 and CUL4 associated factors"""	25784	protein-coding gene	gene with protein product	"""Woodhouse-Sakati syndrome"""	612515	"""chromosome 2 open reading frame 37"""	C2orf37			Standard	NM_001164821		Approved	FLJ13096	uc002ugx.3	Q5H9S7	OTTHUMG00000132259	ENST00000375255.3:c.265C>G	2.37:g.172300067C>G	ENSP00000364404:p.Pro89Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW5|Q53TN3|Q9H908	Missense_Mutation	SNP	NULL	p.P89A	ENST00000375255.3	37	c.265	CCDS2243.2	2	.	.	.	.	.	.	.	.	.	.	C	16.74	3.206190	0.58343	.	.	ENSG00000115827	ENST00000375255;ENST00000539783	T;T	0.52295	0.67;0.7	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.67933	0.2946	M	0.62723	1.935	0.48452	D	0.999655	P;D	0.76494	0.57;0.999	B;D	0.83275	0.142;0.996	T	0.68591	-0.5368	10	0.56958	D	0.05	-8.8825	18.9359	0.92584	0.0:1.0:0.0:0.0	.	89;89	F5H7W1;Q5H9S7	.;DCA17_HUMAN	A	89	ENSP00000364404:P89A;ENSP00000442238:P89A	ENSP00000364404:P89A	P	+	1	0	DCAF17	172008313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.971000	0.56831	2.565000	0.86533	0.579000	0.79373	CCA	DCAF17	-	NULL	ENSG00000115827		0.318	DCAF17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DCAF17	HGNC	protein_coding	OTTHUMT00000255342.2	197	0.00	0	C	NM_025000		172300067	172300067	+1	no_errors	ENST00000375255	ensembl	human	known	69_37n	missense	123	29.14	51	SNP	1.000	G
DGKE	8526	genome.wustl.edu	37	17	54940026	54940026	+	Silent	SNP	C	C	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr17:54940026C>A	ENST00000284061.3	+	12	1758	c.1578C>A	c.(1576-1578)gcC>gcA	p.A526A		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	526					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					AGCCTTGGGCCCAAGGGCCCT	0.443																																						dbGAP											0													43.0	38.0	39.0					17																	54940026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1578C>A	17.37:g.54940026C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBM4|Q9UKQ3	Silent	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.A526	ENST00000284061.3	37	c.1578	CCDS11590.1	17																																																																																			DGKE	-	NULL	ENSG00000153933		0.443	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKE	HGNC	protein_coding	OTTHUMT00000440601.1	61	0.00	0	C	NM_003647		54940026	54940026	+1	no_errors	ENST00000284061	ensembl	human	known	69_37n	silent	156	16.58	31	SNP	0.994	A
UGT1A6	54578	genome.wustl.edu	37	2	234652187	234652188	+	Intron	INS	-	-	C	rs544018510	byFrequency	TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr2:234652187_234652188insC	ENST00000305139.6	+	2	1000				UGT1A1_ENST00000609767.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A7_ENST00000373426.3_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	AGTTCCTCTGACCCCCCCAAAA	0.54													cccccc|CCCCCCC|CCCCCCCC|cryptic_indel	31	0.0061901	0.0212	0.0043	5008	,	,		16507	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23492->C	2.37:g.234652194_234652194dupC		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKK6|B8K289|Q96TE7	RNA	INS	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			DNAJB3	-	-	ENSG00000227802		0.540	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	HGNC	protein_coding	OTTHUMT00000130988.1	51	0.00	0	-	NM_205862		234652187	234652188	-1	no_errors	ENST00000449667	ensembl	human	known	69_37n	rna	54	10.00	6	INS	0.050:0.014	C
DOCK11	139818	genome.wustl.edu	37	X	117788766	117788766	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chrX:117788766G>T	ENST00000276202.7	+	43	4960	c.4897G>T	c.(4897-4899)Gga>Tga	p.G1633*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.G1633*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1633	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGTAAAAAATGGAGATTTTTC	0.413																																						dbGAP											0													119.0	108.0	112.0					X																	117788766		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4897G>T	X.37:g.117788766G>T	ENSP00000276202:p.Gly1633*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.G1633*	ENST00000276202.7	37	c.4897	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	G	45	11.723102	0.99595	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-23.7554	17.2319	0.86987	0.0:0.0:1.0:0.0	.	.	.	.	X	1633	.	ENSP00000276202:G1633X	G	+	1	0	DOCK11	117672794	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.631000	0.83237	1.990000	0.58119	0.600000	0.82982	GGA	DOCK11	-	NULL	ENSG00000147251		0.413	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	159	0.00	0	G	NM_144658		117788766	117788766	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	nonsense	46	60.34	70	SNP	1.000	T
EPPK1	83481	genome.wustl.edu	37	8	144940540	144940540	+	Silent	SNP	G	G	A	rs56034452		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr8:144940540G>A	ENST00000525985.1	-	2	6953	c.6882C>T	c.(6880-6882)ggC>ggT	p.G2294G				P58107	EPIPL_HUMAN	epiplakin 1	2294						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGGATCTCGCCGCCCACCA	0.706																																						dbGAP											0													90.0	89.0	90.0					8																	144940540		2176	4252	6428	-	-	-	SO:0001819	synonymous_variant	0			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6882C>T	8.37:g.144940540G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q76E58|Q9NSU9	Silent	SNP	pfam_Plectin_repeat,smart_Plectin_repeat	p.G2294	ENST00000525985.1	37	c.6882		8																																																																																			EPPK1	-	pfam_Plectin_repeat,smart_Plectin_repeat	ENSG00000227184		0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	HGNC	protein_coding	OTTHUMT00000382675.1	34	0.00	0	G	NM_031308		144940540	144940540	-1	no_errors	ENST00000525985	ensembl	human	known	69_37n	silent	18	18.18	4	SNP	0.998	A
FAM111A	63901	genome.wustl.edu	37	11	58920329	58920329	+	Silent	SNP	G	G	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr11:58920329G>A	ENST00000528737.1	+	5	4006	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	FAM111A_ENST00000531147.1_Silent_p.E396E|FAM111A_ENST00000533703.1_Silent_p.E396E|FAM111A_ENST00000420244.1_Silent_p.E396E|FAM111A_ENST00000361723.3_Silent_p.E396E			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	396	Interaction with SV40 large T antigen.				defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACGGAATAGAGCCAAGTAAGT	0.393																																						dbGAP											0													162.0	162.0	162.0					11																	58920329		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.1188G>A	11.37:g.58920329G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	p.E396	ENST00000528737.1	37	c.1188	CCDS7973.1	11																																																																																			FAM111A	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like	ENSG00000166801		0.393	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM111A	HGNC	protein_coding	OTTHUMT00000393975.1	167	0.00	0	G	NM_022074		58920329	58920329	+1	no_errors	ENST00000361723	ensembl	human	known	69_37n	silent	95	33.10	47	SNP	0.005	A
GATA3	2625	genome.wustl.edu	37	10	8115832	8115833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:8115832_8115833insG	ENST00000346208.3	+	6	1633_1634	c.1178_1179insG	c.(1177-1182)ccggccfs	p.A394fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Ins_p.A395fs			P23771	GATA3_HUMAN	GATA binding protein 3	394					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGTTTAACCCGGCCGCCCTCT	0.559			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1180dupG	10.37:g.8115834_8115834dupG	ENSP00000341619:p.Ala394fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A395fs	ENST00000346208.3	37	c.1181_1182	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.559	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	122	0.00	0	-	NM_001002295		8115832	8115833	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	93	24.39	30	INS	0.999:0.040	G
HS3ST5	222537	genome.wustl.edu	37	6	114379175	114379175	+	Missense_Mutation	SNP	A	A	G	rs537896729		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr6:114379175A>G	ENST00000312719.5	-	5	1475	c.287T>C	c.(286-288)aTt>aCt	p.I96T	HS3ST5_ENST00000411826.1_Missense_Mutation_p.I96T|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	96					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCTCACCCCAATGATAATGGC	0.527																																						dbGAP											0													71.0	69.0	69.0					6																	114379175		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.287T>C	6.37:g.114379175A>G	ENSP00000427888:p.Ile96Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.I96T	ENST00000312719.5	37	c.287	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247039	0.59103	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.60299	0.2;0.2	5.62	5.62	0.85841	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.70185	0.3195	M	0.74546	2.27	0.80722	D	1	D	0.67145	0.996	D	0.69654	0.965	T	0.75110	-0.3433	10	0.87932	D	0	.	16.1189	0.81329	1.0:0.0:0.0:0.0	.	96	Q8IZT8	HS3S5_HUMAN	T	96	ENSP00000427888:I96T;ENSP00000440332:I96T	ENSP00000427888:I96T	I	-	2	0	HS3ST5	114485868	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.285000	0.95894	2.263000	0.75096	0.533000	0.62120	ATT	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.527	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	86	0.00	0	A	NM_153612		114379175	114379175	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	49	32.88	24	SNP	1.000	G
KIF26A	26153	genome.wustl.edu	37	14	104618523	104618524	+	Frame_Shift_Ins	INS	-	-	C	rs199541796		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr14:104618523_104618524insC	ENST00000423312.2	+	3	460_461	c.460_461insC	c.(460-462)gccfs	p.A154fs	KIF26A_ENST00000315264.7_Frame_Shift_Ins_p.A15fs	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	154					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGACCTTGACGCCCCCCATGGA	0.713																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.466dupC	14.37:g.104618529_104618529dupC	ENSP00000388241:p.Ala154fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.H156fs	ENST00000423312.2	37	c.460_461	CCDS45171.1	14																																																																																			KIF26A	-	NULL	ENSG00000066735		0.713	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	13	0.00	0	-			104618523	104618524	+1	no_errors	ENST00000423312	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.009:0.002	C
MAP4K1	11184	genome.wustl.edu	37	19	39088180	39088180	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr19:39088180T>A	ENST00000591517.1	-	23	1752	c.1724A>T	c.(1723-1725)gAg>gTg	p.E575V	CTB-186G2.1_ENST00000589557.1_RNA|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Nonsense_Mutation_p.R217*|MAP4K1_ENST00000589130.1_Missense_Mutation_p.E571V|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E575V	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	575	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGCTCTGGTCTCTTTCCGTTC	0.542																																						dbGAP											0													77.0	79.0	78.0					19																	39088180		1995	4147	6142	-	-	-	SO:0001583	missense	0			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1724A>T	19.37:g.39088180T>A	ENSP00000465039:p.Glu575Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Citron	p.R217*	ENST00000591517.1	37	c.649	CCDS59385.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	38|38	7.258147|7.258147	0.98168|0.98168	.|.	.|.	ENSG00000104814|ENSG00000104814	ENST00000396857;ENST00000221409|ENST00000423454	T|.	0.05199|.	3.48|.	5.13|5.13	5.13|5.13	0.70059|0.70059	Citron-like (3);|.	0.523917|.	0.21265|.	N|.	0.077416|.	T|.	0.50257|.	0.1605|.	L|L	0.36672|0.36672	1.1|1.1	0.49582|0.49582	D|D	0.999809|0.999809	P;P|.	0.39157|.	0.467;0.662|.	B;P|.	0.45377|.	0.346;0.478|.	T|.	0.40421|.	-0.9564|.	10|.	0.33141|0.11182	T|T	0.24|0.66	.|.	11.2977|11.2977	0.49288|0.49288	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	575;575|.	Q92918-2;Q92918|.	.;M4K1_HUMAN|.	V|X	575|217	ENSP00000380066:E575V|.	ENSP00000221409:E575V|ENSP00000396383:R217X	E|R	-|-	2|1	0|2	MAP4K1|MAP4K1	43780020|43780020	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.984000|0.984000	0.73092|0.73092	2.381000|2.381000	0.44336|0.44336	2.161000|2.161000	0.67846|0.67846	0.449000|0.449000	0.29647|0.29647	GAG|AGA	MAP4K1	-	NULL	ENSG00000104814		0.542	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	HGNC	protein_coding	OTTHUMT00000453390.1	172	0.00	0	T	NM_001042600		39088180	39088180	-1	no_errors	ENST00000423454	ensembl	human	known	69_37n	nonsense	146	11.52	19	SNP	0.993	A
KMT2A	4297	genome.wustl.edu	37	11	118392845	118392845	+	Silent	SNP	C	C	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr11:118392845C>G	ENST00000389506.5	+	36	11868	c.11868C>G	c.(11866-11868)ccC>ccG	p.P3956P	RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000528578.1_RNA|KMT2A_ENST00000534358.1_Silent_p.P3959P|KMT2A_ENST00000354520.4_Silent_p.P3918P|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3956	Post-SET. {ECO:0000255|PROSITE- ProRule:PRU00155}.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAAGCTGCCCTGCAACTGTG	0.522																																						dbGAP											0													104.0	86.0	92.0					11																	118392845		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11868C>G	11.37:g.118392845C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P3956	ENST00000389506.5	37	c.11868	CCDS31686.1	11																																																																																			MLL	-	smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_Post-SET_dom	ENSG00000118058		0.522	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	81	0.00	0	C	NM_005933		118392845	118392845	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	16	79.49	62	SNP	1.000	G
MRAP2	112609	genome.wustl.edu	37	6	84799080	84799080	+	Silent	SNP	C	C	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr6:84799080C>A	ENST00000257776.4	+	4	633	c.498C>A	c.(496-498)atC>atA	p.I166I		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	166					energy homeostasis (GO:0097009)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|identical protein binding (GO:0042802)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AGTTTGACATCCCCAACTTTG	0.502																																						dbGAP											0													125.0	123.0	124.0					6																	84799080		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090775	CCDS5001.1	6q14.3	2009-10-06	2008-07-16	2008-07-16	ENSG00000135324	ENSG00000135324			21232	protein-coding gene	gene with protein product		615410	"""chromosome 6 open reading frame 117"""	C6orf117			Standard	NM_138409		Approved	bA51G5.2	uc003pkg.4	Q96G30	OTTHUMG00000015121	ENST00000257776.4:c.498C>A	6.37:g.84799080C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9M1|Q8IXM9|Q8N2D1	Silent	SNP	NULL	p.I166	ENST00000257776.4	37	c.498	CCDS5001.1	6																																																																																			MRAP2	-	NULL	ENSG00000135324		0.502	MRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRAP2	HGNC	protein_coding	OTTHUMT00000041367.1	232	0.00	0	C	NM_138409		84799080	84799080	+1	no_errors	ENST00000257776	ensembl	human	known	69_37n	silent	115	31.36	53	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168352254	168352254	+	Missense_Mutation	SNP	C	C	T	rs571941763		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr6:168352254C>T	ENST00000447894.2	+	29	4199	c.4199C>T	c.(4198-4200)cCg>cTg	p.P1400L	MLLT4_ENST00000392108.3_Missense_Mutation_p.P1400L|MLLT4_ENST00000366806.2_Missense_Mutation_p.P1400L|MLLT4_ENST00000351017.4_Missense_Mutation_p.P1407L|MLLT4_ENST00000392112.1_Missense_Mutation_p.P1383L|MLLT4_ENST00000400822.3_Missense_Mutation_p.P1399L|MLLT4_ENST00000344191.4_Missense_Mutation_p.P1400L			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1400					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ATAGGGCTGCCGTCTGCGCAG	0.602			T	MLL	AL								C|||	1	0.000199681	0.0	0.0	5008	,	,		16418	0.0		0.0	False		,,,				2504	0.001					dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													72.0	78.0	76.0					6																	168352254		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4199C>T	6.37:g.168352254C>T	ENSP00000404595:p.Pro1400Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.P1400L	ENST00000447894.2	37	c.4199		6	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030074	0.07543	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04234	3.87;3.78;3.87;3.87;3.67;3.78;3.78	5.07	-8.32	0.00996	.	1.141630	0.06529	N	0.741015	T	0.01189	0.0039	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.001;0.001;0.001	T	0.33675	-0.9859	10	0.28530	T	0.3	-1.1839	17.3414	0.87297	0.1695:0.7411:0.0:0.0894	.	1400;1399;1400;1384	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	L	1400;1407;1400;1400;1383;1400;1399;1400	ENSP00000341118:P1400L;ENSP00000252692:P1407L;ENSP00000375956:P1400L;ENSP00000355771:P1400L;ENSP00000375960:P1383L;ENSP00000383623:P1399L;ENSP00000404595:P1400L	ENSP00000345834:P1400L	P	+	2	0	MLLT4	168095103	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.064000	0.14437	-1.316000	0.02295	-0.485000	0.04761	CCG	MLLT4	-	NULL	ENSG00000130396		0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	111	0.00	0	C	NM_005936		168352254	168352254	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	47	36.49	27	SNP	0.000	T
TPTE2P2	644623	genome.wustl.edu	37	13	52853981	52853981	+	RNA	SNP	T	T	C	rs149631846	byFrequency	TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr13:52853981T>C	ENST00000451298.1	-	0	556																											CTTACCTTAATTGGATTCCGA	0.338																																						dbGAP											0																																										-	-	-			0																															13.37:g.52853981T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000451298.1	37	NULL		13																																																																																			RP11-64P12.8	-	-	ENSG00000217576		0.338	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	MRPS31P3	Clone_based_vega_gene	processed_transcript	OTTHUMT00000471093.1	8	0.00	0	T			52853981	52853981	-1	no_errors	ENST00000422308	ensembl	human	known	69_37n	rna	2	66.67	4	SNP	1.000	C
PCDH18	54510	genome.wustl.edu	37	4	138442550	138442550	+	Missense_Mutation	SNP	C	C	T	rs199723290		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr4:138442550C>T	ENST00000344876.4	-	4	3427	c.3041G>A	c.(3040-3042)cGt>cAt	p.R1014H	PCDH18_ENST00000412923.2_Missense_Mutation_p.R1013H|PCDH18_ENST00000511115.1_Missense_Mutation_p.R194H|PCDH18_ENST00000510305.1_Missense_Mutation_p.R225H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R793H	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	1014	Interaction with DAB1. {ECO:0000250}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGGTAAGAGACGCTGGAACAC	0.537																																						dbGAP											0													83.0	75.0	77.0					4																	138442550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.3041G>A	4.37:g.138442550C>T	ENSP00000355082:p.Arg1014His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R1014H	ENST00000344876.4	37	c.3041	CCDS34064.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205561	0.79127	.	.	ENSG00000189184	ENST00000344876;ENST00000412923;ENST00000507846;ENST00000510305;ENST00000511115	T;T;T;T;T	0.56776	0.55;0.55;0.44;1.29;1.27	4.86	4.86	0.63082	.	0.000000	0.44285	D	0.000475	T	0.71846	0.3388	M	0.67953	2.075	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.996;0.998;0.996	T	0.75889	-0.3158	10	0.87932	D	0	.	18.0125	0.89229	0.0:1.0:0.0:0.0	.	194;793;1013;1014	B4DLR6;D6RIG4;Q9HCL0-2;Q9HCL0	.;.;.;PCD18_HUMAN	H	1014;1013;793;225;194	ENSP00000355082:R1014H;ENSP00000390688:R1013H;ENSP00000425903:R793H;ENSP00000424269:R225H;ENSP00000425647:R194H	ENSP00000355082:R1014H	R	-	2	0	PCDH18	138662000	1.000000	0.71417	0.997000	0.53966	0.743000	0.42351	5.588000	0.67517	2.250000	0.74265	0.655000	0.94253	CGT	PCDH18	-	NULL	ENSG00000189184		0.537	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	47	0.00	0	C	NM_019035		138442550	138442550	-1	no_errors	ENST00000344876	ensembl	human	known	69_37n	missense	13	50.00	13	SNP	1.000	T
POGZ	23126	genome.wustl.edu	37	1	151378134	151378134	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr1:151378134T>C	ENST00000271715.2	-	19	3691	c.3377A>G	c.(3376-3378)gAt>gGt	p.D1126G	POGZ_ENST00000368863.2_Missense_Mutation_p.D1031G|POGZ_ENST00000409503.1_Missense_Mutation_p.D1117G|POGZ_ENST00000540984.1_Missense_Mutation_p.D488G|POGZ_ENST00000361398.3_Missense_Mutation_p.D1073G|POGZ_ENST00000491586.1_Missense_Mutation_p.D1082G|POGZ_ENST00000392723.1_Missense_Mutation_p.D1073G|POGZ_ENST00000531094.1_Missense_Mutation_p.D1064G	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1126	DDE.				kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AGAGATCTCATCAATAGCCAC	0.468																																						dbGAP											0													132.0	116.0	122.0					1																	151378134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.3377A>G	1.37:g.151378134T>C	ENSP00000271715:p.Asp1126Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.D1126G	ENST00000271715.2	37	c.3377	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	T	14.81	2.645348	0.47258	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000540984;ENST00000491586	T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000001	T	0.64405	0.2595	L	0.46157	1.445	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.998;0.996;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.991;0.991;0.987;0.999	T	0.69113	-0.5231	10	0.87932	D	0	-22.6507	15.2713	0.73705	0.0:0.0:0.0:1.0	.	1064;1117;1031;1082;1073;1126	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;POGZ_HUMAN	G	1073;1126;1073;1031;1117;1064;488;1082	ENSP00000376484:D1073G;ENSP00000271715:D1126G;ENSP00000354467:D1073G;ENSP00000357856:D1031G;ENSP00000386836:D1117G;ENSP00000431259:D1064G;ENSP00000443547:D488G;ENSP00000418408:D1082G	ENSP00000271715:D1126G	D	-	2	0	POGZ	149644758	1.000000	0.71417	0.960000	0.40013	0.384000	0.30261	7.306000	0.78905	2.281000	0.76405	0.533000	0.62120	GAT	POGZ	-	pfam_DDE_SF_endonuclease_CENPB-like	ENSG00000143442		0.468	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	202	0.49	1	T	NM_207171		151378134	151378134	-1	no_errors	ENST00000271715	ensembl	human	known	69_37n	missense	134	31.63	62	SNP	1.000	C
PTCHD3	374308	genome.wustl.edu	37	10	27702950	27702951	+	Frame_Shift_Ins	INS	-	-	G	rs570928509	byFrequency	TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:27702950_27702951insG	ENST00000438700.3	-	1	346_347	c.229_230insC	c.(229-231)cggfs	p.R77fs		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	77					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CATCGACGGCCGGGGGGGTGCA	0.718																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.230dupC	10.37:g.27702957_27702957dupG	ENSP00000417658:p.Arg77fs	Somatic		WXS	Illumina GAIIx	Phase_IV	I3L499|Q6ZU28	Frame_Shift_Ins	INS	pfam_Patched,pfscan_SSD	p.R77fs	ENST00000438700.3	37	c.230_229	CCDS31173.1	10																																																																																			PTCHD3	-	NULL	ENSG00000182077		0.718	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	21	0.00	0	-	XM_370541		27702950	27702951	-1	no_errors	ENST00000438700	ensembl	human	known	69_37n	frame_shift_ins	29	14.71	5	INS	0.000:0.000	G
PTPN23	25930	genome.wustl.edu	37	3	47450966	47450966	+	Silent	SNP	C	C	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr3:47450966C>T	ENST00000265562.4	+	18	1934	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N	PTPN23_ENST00000431726.1_Silent_p.N493N	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	619					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAGCAGAACCTGGCCGCCC	0.607																																						dbGAP											0													46.0	50.0	49.0					3																	47450966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.1857C>T	3.37:g.47450966C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.N619	ENST00000265562.4	37	c.1857	CCDS2754.1	3																																																																																			PTPN23	-	NULL	ENSG00000076201		0.607	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	63	0.00	0	C	NM_015466		47450966	47450966	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	silent	48	33.33	24	SNP	1.000	T
RGS9	8787	genome.wustl.edu	37	17	63221454	63221454	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr17:63221454C>G	ENST00000262406.9	+	18	1809	c.1742C>G	c.(1741-1743)tCc>tGc	p.S581C	RGS9_ENST00000443584.3_Missense_Mutation_p.S578C|RGS9_ENST00000449996.3_Missense_Mutation_p.S578C	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	581					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATGGCTCTGTCCTTCAGCAGG	0.682																																						dbGAP											0													76.0	80.0	79.0					17																	63221454		1944	4130	6074	-	-	-	SO:0001583	missense	0			AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.1742C>G	17.37:g.63221454C>G	ENSP00000262406:p.Ser581Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S581C	ENST00000262406.9	37	c.1742	CCDS42373.1	17	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287517	0.80803	.	.	ENSG00000108370	ENST00000262406;ENST00000449996	T;T	0.42513	1.0;0.97	4.76	4.76	0.60689	.	0.118165	0.64402	D	0.000013	T	0.54711	0.1875	M	0.63843	1.955	0.49687	D	0.999813	P;P;P	0.52842	0.832;0.927;0.956	P;P;P	0.52267	0.456;0.498;0.694	T	0.60850	-0.7181	10	0.87932	D	0	.	18.2517	0.90006	0.0:1.0:0.0:0.0	.	581;581;578	A8K1G1;O75916;O75916-5	.;RGS9_HUMAN;.	C	581;578	ENSP00000262406:S581C;ENSP00000396329:S578C	ENSP00000262406:S581C	S	+	2	0	RGS9	60651916	1.000000	0.71417	0.972000	0.41901	0.988000	0.76386	5.457000	0.66672	2.556000	0.86216	0.561000	0.74099	TCC	RGS9	-	NULL	ENSG00000108370		0.682	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS9	HGNC	protein_coding	OTTHUMT00000445885.1	109	0.00	0	C	NM_003835		63221454	63221454	+1	no_errors	ENST00000262406	ensembl	human	known	69_37n	missense	77	55.23	95	SNP	1.000	G
RWDD3	25950	genome.wustl.edu	37	1	95710162	95710162	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr1:95710162A>T	ENST00000370202.4	+	2	557	c.481A>T	c.(481-483)Aag>Tag	p.K161*	RP11-57H12.5_ENST00000444665.1_RNA|RWDD3_ENST00000429514.2_Nonsense_Mutation_p.K146*|RP11-57H12.6_ENST00000604534.1_3'UTR|RWDD3_ENST00000263893.6_Nonsense_Mutation_p.K161*|RWDD3_ENST00000495272.1_3'UTR	NM_001199682.1|NM_015485.4	NP_001186611.1|NP_056300	Q9Y3V2	RWDD3_HUMAN	RWD domain containing 3	161					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of hypoxia-inducible factor-1alpha signaling pathway (GO:1902073)|positive regulation of protein sumoylation (GO:0033235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AATTGTGGAGAAGTGGGCTTC	0.383																																						dbGAP											0													119.0	111.0	114.0					1																	95710162		1899	4116	6015	-	-	-	SO:0001587	stop_gained	0			BC010936	CCDS41357.1, CCDS44177.1	1p22.1	2012-12-07			ENSG00000122481	ENSG00000122481			21393	protein-coding gene	gene with protein product		615875				11230166	Standard	NM_015485		Approved	DKFZP566K023	uc009wdu.3	Q9Y3V2	OTTHUMG00000010910	ENST00000370202.4:c.481A>T	1.37:g.95710162A>T	ENSP00000359221:p.Lys161*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP44|A8K9F0|C9J9L7|C9JI45|Q08AJ7|Q6FID3|Q9BX35	Nonsense_Mutation	SNP	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain	p.K161*	ENST00000370202.4	37	c.481	CCDS41357.1	1	.	.	.	.	.	.	.	.	.	.	A	34	5.386168	0.95967	.	.	ENSG00000122481	ENST00000370202;ENST00000429514;ENST00000263893	.	.	.	5.38	4.23	0.50019	.	0.229038	0.43260	D	0.000582	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.5466	12.7054	0.57058	0.8622:0.1378:0.0:0.0	.	.	.	.	X	161;146;161	.	ENSP00000263893:K161X	K	+	1	0	RWDD3	95482750	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.271000	0.78506	0.958000	0.37956	0.528000	0.53228	AAG	RWDD3	-	NULL	ENSG00000122481		0.383	RWDD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD3	HGNC	protein_coding	OTTHUMT00000030078.1	55	0.00	0	A	NM_015485		95710162	95710162	+1	no_errors	ENST00000370202	ensembl	human	known	69_37n	nonsense	37	15.91	7	SNP	1.000	T
SMARCAL1	50485	genome.wustl.edu	37	2	217303196	217303196	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr2:217303196G>T	ENST00000357276.4	+	10	2028	c.1698G>T	c.(1696-1698)atG>atT	p.M566I	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.M566I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	566	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAGCAGCTATGCCGGTCCTAA	0.493									Schimke Immuno-Osseous Dysplasia																													dbGAP											0													81.0	71.0	74.0					2																	217303196		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.1698G>T	2.37:g.217303196G>T	ENSP00000349823:p.Met566Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M566I	ENST00000357276.4	37	c.1698	CCDS2403.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.70|10.70	1.424022|1.424022	0.25639|0.25639	.|.	.|.	ENSG00000138375|ENSG00000138375	ENST00000445153|ENST00000357276;ENST00000358207	.|D;D	.|0.91740	.|-2.9;-2.9	4.69|4.69	2.82|2.82	0.32997|0.32997	.|DEAD-like helicase (2);SNF2-related (1);	.|0.238065	.|0.45126	.|D	.|0.000385	D|D	0.88005|0.88005	0.6321|0.6321	L|L	0.43152|0.43152	1.355|1.355	0.43025|0.43025	D|D	0.994589|0.994589	.|B	.|0.13145	.|0.007	.|B	.|0.19666	.|0.026	T|T	0.82758|0.82758	-0.0299|-0.0299	5|10	.|0.41790	.|T	.|0.15	-3.6574|-3.6574	12.4351|12.4351	0.55595|0.55595	0.0:0.0:0.6942:0.3058|0.0:0.0:0.6942:0.3058	.|.	.|566	.|Q9NZC9	.|SMAL1_HUMAN	F|I	124|566	.|ENSP00000349823:M566I;ENSP00000350940:M566I	.|ENSP00000349823:M566I	C|M	+|+	2|3	0|0	SMARCAL1|SMARCAL1	217011441|217011441	1.000000|1.000000	0.71417|0.71417	0.853000|0.853000	0.33588|0.33588	0.645000|0.645000	0.38454|0.38454	4.898000|4.898000	0.63238|0.63238	0.653000|0.653000	0.30826|0.30826	0.561000|0.561000	0.74099|0.74099	TGC|ATG	SMARCAL1	-	pfam_SNF2_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000138375		0.493	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	72	0.00	0	G			217303196	217303196	+1	no_errors	ENST00000357276	ensembl	human	known	69_37n	missense	38	37.70	23	SNP	0.999	T
SYAP1	94056	genome.wustl.edu	37	X	16737865	16737865	+	Silent	SNP	C	C	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chrX:16737865C>T	ENST00000380155.3	+	1	111	c.18C>T	c.(16-18)agC>agT	p.S6S		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	6						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GGGGCTTGAGCAGTTGGTTGG	0.692																																						dbGAP											0													9.0	9.0	9.0					X																	16737865		2149	4158	6307	-	-	-	SO:0001819	synonymous_variant	0			AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.18C>T	X.37:g.16737865C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CP1|Q96C60|Q96JQ6|Q96T20	Silent	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.S6	ENST00000380155.3	37	c.18	CCDS14177.1	X																																																																																			SYAP1	-	NULL	ENSG00000169895		0.692	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYAP1	HGNC	protein_coding	OTTHUMT00000055904.1	10	0.00	0	C	NM_032796		16737865	16737865	+1	no_errors	ENST00000380155	ensembl	human	known	69_37n	silent	5	64.29	9	SNP	0.835	T
TAS2R8	50836	genome.wustl.edu	37	12	10958729	10958729	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr12:10958729A>G	ENST00000240615.2	-	1	1163	c.851T>C	c.(850-852)aTt>aCt	p.I284T		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	284					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AACAATTAAAATAAGTGAGTG	0.343																																						dbGAP											0													29.0	31.0	31.0					12																	10958729		2201	4296	6497	-	-	-	SO:0001583	missense	0			AF227134	CCDS8632.1	12p13	2012-08-22			ENSG00000121314	ENSG00000121314		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14915	protein-coding gene	gene with protein product		604794				10761934, 10766242	Standard	NM_023918		Approved	T2R8, TRB5	uc010shh.2	Q9NYW2	OTTHUMG00000168506	ENST00000240615.2:c.851T>C	12.37:g.10958729A>G	ENSP00000240615:p.Ile284Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KN29|Q645Y2	Missense_Mutation	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.I284T	ENST00000240615.2	37	c.851	CCDS8632.1	12	.	.	.	.	.	.	.	.	.	.	A	12.01	1.808382	0.31961	.	.	ENSG00000121314	ENST00000240615	T	0.57273	0.41	4.86	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.107337	0.37483	U	0.002071	T	0.74589	0.3736	M	0.88979	2.995	0.09310	N	1	D	0.67145	0.996	D	0.70016	0.967	T	0.69767	-0.5056	10	0.87932	D	0	.	12.4204	0.55518	1.0:0.0:0.0:0.0	.	284	Q9NYW2	TA2R8_HUMAN	T	284	ENSP00000240615:I284T	ENSP00000240615:I284T	I	-	2	0	TAS2R8	10849996	0.208000	0.23494	0.102000	0.21198	0.155000	0.21991	5.648000	0.67930	2.037000	0.60232	0.533000	0.62120	ATT	TAS2R8	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam	ENSG00000121314		0.343	TAS2R8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R8	HGNC	protein_coding	OTTHUMT00000399932.1	41	0.00	0	A			10958729	10958729	-1	no_errors	ENST00000240615	ensembl	human	known	69_37n	missense	8	65.22	15	SNP	0.125	G
TBL1X	6907	genome.wustl.edu	37	X	9661417	9661417	+	Missense_Mutation	SNP	G	G	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chrX:9661417G>T	ENST00000217964.7	+	11	1651	c.1011G>T	c.(1009-1011)tgG>tgT	p.W337C	TBL1X_ENST00000536365.1_Missense_Mutation_p.W286C|TBL1X_ENST00000380961.1_Missense_Mutation_p.W286C|TBL1X_ENST00000407597.2_Missense_Mutation_p.W337C|TBL1X_ENST00000424279.1_Missense_Mutation_p.W286C	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	337					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CCTTGAAATGGAACCGAAAGG	0.393																																						dbGAP											0													104.0	79.0	88.0					X																	9661417		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.1011G>T	X.37:g.9661417G>T	ENSP00000217964:p.Trp337Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K044|A8K4J7|Q86UY2	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.W337C	ENST00000217964.7	37	c.1011	CCDS14133.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126514	0.77549	.	.	ENSG00000101849	ENST00000407597;ENST00000424279;ENST00000536365;ENST00000380961;ENST00000217964	T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2;-0.2	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.067201	0.64402	D	0.000004	T	0.80904	0.4713	M	0.84326	2.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84885	0.0833	10	0.87932	D	0	.	16.9605	0.86271	0.0:0.0:1.0:0.0	.	300;337	Q59F53;O60907	.;TBL1X_HUMAN	C	337;286;286;286;337	ENSP00000385988:W337C;ENSP00000394097:W286C;ENSP00000445317:W286C;ENSP00000370348:W286C;ENSP00000217964:W337C	ENSP00000217964:W337C	W	+	3	0	TBL1X	9621417	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.187000	0.94912	2.011000	0.59026	0.600000	0.82982	TGG	TBL1X	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000101849		0.393	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	191	0.00	0	G	NM_005647		9661417	9661417	+1	no_errors	ENST00000217964	ensembl	human	known	69_37n	missense	34	59.04	49	SNP	1.000	T
TCHH	7062	genome.wustl.edu	37	1	152084677	152084677	+	Missense_Mutation	SNP	A	A	T	rs199649490		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr1:152084677A>T	ENST00000368804.1	-	2	1015	c.1016T>A	c.(1015-1017)cTg>cAg	p.L339Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	339	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcgcgcctcagctgctgctc	0.706																																						dbGAP											0													11.0	15.0	14.0					1																	152084677		1976	4035	6011	-	-	-	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1016T>A	1.37:g.152084677A>T	ENSP00000357794:p.Leu339Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L339Q	ENST00000368804.1	37	c.1016	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	N	6.735	0.504431	0.12822	.	.	ENSG00000159450	ENST00000368804	T	0.06218	3.33	3.82	-4.1	0.03940	.	.	.	.	.	T	0.00666	0.0022	N	0.08118	0	0.09310	N	1	B	0.21905	0.062	B	0.14023	0.01	T	0.48031	-0.9070	9	0.13470	T	0.59	.	4.258	0.10726	0.2515:0.0:0.1873:0.5612	.	339	Q07283	TRHY_HUMAN	Q	339	ENSP00000357794:L339Q	ENSP00000357794:L339Q	L	-	2	0	TCHH	150351301	0.000000	0.05858	0.024000	0.17045	0.001000	0.01503	-1.403000	0.02497	-0.646000	0.05452	-2.794000	0.00115	CTG	TCHH	-	NULL	ENSG00000159450		0.706	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	24	0.00	0	A	NM_007113		152084677	152084677	-1	no_errors	ENST00000368804	ensembl	human	known	69_37n	missense	13	33.33	7	SNP	0.000	T
TMEM214	54867	genome.wustl.edu	37	2	27259373	27259373	+	Missense_Mutation	SNP	T	T	G	rs199633833		TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr2:27259373T>G	ENST00000238788.9	+	6	801	c.739T>G	c.(739-741)Tcc>Gcc	p.S247A	TMEM214_ENST00000404032.3_Missense_Mutation_p.S202A	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	247					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ACTGCTGAGGTCCCACCAGAG	0.572																																						dbGAP											0													118.0	116.0	117.0					2																	27259373		1955	4156	6111	-	-	-	SO:0001583	missense	0				CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.739T>G	2.37:g.27259373T>G	ENSP00000238788:p.Ser247Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	pfam_DUF2359_TMEM214	p.S247A	ENST00000238788.9	37	c.739	CCDS42664.1	2	.	.	.	.	.	.	.	.	.	.	T	15.53	2.860498	0.51482	.	.	ENSG00000119777	ENST00000238788;ENST00000404032	T;T	0.53423	0.62;0.62	5.55	4.38	0.52667	.	0.173614	0.52532	D	0.000066	T	0.60650	0.2285	M	0.73962	2.25	0.41643	D	0.989086	D;D	0.56746	0.977;0.961	P;P	0.59115	0.852;0.825	T	0.60115	-0.7326	10	0.28530	T	0.3	-21.0376	11.4512	0.50154	0.0:0.0729:0.0:0.9271	.	202;247	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	A	247;202	ENSP00000238788:S247A;ENSP00000384417:S202A	ENSP00000238788:S247A	S	+	1	0	TMEM214	27112877	1.000000	0.71417	0.989000	0.46669	0.836000	0.47400	3.716000	0.54904	2.128000	0.65567	0.459000	0.35465	TCC	TMEM214	-	pfam_DUF2359_TMEM214	ENSG00000119777		0.572	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM214	HGNC	protein_coding	OTTHUMT00000324748.1	133	0.00	0	T	NM_017727		27259373	27259373	+1	no_errors	ENST00000238788	ensembl	human	known	69_37n	missense	68	38.74	43	SNP	0.906	G
TNRC18	84629	genome.wustl.edu	37	7	5401258	5401259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr7:5401258_5401259insG	ENST00000430969.1	-	14	4975_4976	c.4627_4628insC	c.(4627-4629)cgcfs	p.R1543fs	TNRC18_ENST00000399537.4_Frame_Shift_Ins_p.R1543fs	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1543							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCTCTCTTGCGGGGGGGCGAC	0.693																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.4628dupC	7.37:g.5401265_5401265dupG	ENSP00000395538:p.Arg1543fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MX41|Q96JH1|Q96K91	Frame_Shift_Ins	INS	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.R1543fs	ENST00000430969.1	37	c.4628_4627	CCDS47534.1	7																																																																																			TNRC18	-	NULL	ENSG00000182095		0.693	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		37	0.00	0	-			5401258	5401259	-1	no_errors	ENST00000399537	ensembl	human	known	69_37n	frame_shift_ins	34	10.53	4	INS	1.000:0.999	G
VDAC2	7417	genome.wustl.edu	37	10	76982078	76982078	+	Missense_Mutation	SNP	A	A	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:76982078A>T	ENST00000332211.6	+	8	866	c.653A>T	c.(652-654)aAc>aTc	p.N218I	VDAC2_ENST00000313132.4_Missense_Mutation_p.N233I|VDAC2_ENST00000535553.1_Missense_Mutation_p.N179I|VDAC2_ENST00000543351.1_Missense_Mutation_p.N218I	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	218					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	ACTTCAGTAAACCTTGCTTGG	0.378																																						dbGAP											0													113.0	109.0	110.0					10																	76982078		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.653A>T	10.37:g.76982078A>T	ENSP00000361686:p.Asn218Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	pfam_Porin_Euk,prints_Porin_Euk	p.N233I	ENST00000332211.6	37	c.698	CCDS7348.1	10	.	.	.	.	.	.	.	.	.	.	A	22.5	4.299515	0.81136	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000332211;ENST00000535553;ENST00000313132	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	5.2	5.2	0.72013	.	0.045266	0.85682	D	0.000000	T	0.68540	0.3012	M	0.91196	3.185	0.58432	D	0.999999	D;P;P	0.53151	0.958;0.594;0.804	P;P;P	0.60345	0.873;0.644;0.825	T	0.76038	-0.3105	10	0.54805	T	0.06	.	15.3593	0.74457	1.0:0.0:0.0:0.0	.	179;233;218	B4DKM5;P45880-1;P45880	.;.;VDAC2_HUMAN	I	218;218;218;179;233	ENSP00000298468:N218I;ENSP00000443092:N218I;ENSP00000361686:N218I;ENSP00000445901:N179I;ENSP00000361635:N233I	ENSP00000298468:N218I	N	+	2	0	VDAC2	76652084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.469000	0.80959	2.095000	0.63458	0.460000	0.39030	AAC	VDAC2	-	pfam_Porin_Euk	ENSG00000165637		0.378	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC2	HGNC	protein_coding	OTTHUMT00000048792.1	111	0.00	0	A	NM_003375		76982078	76982078	+1	no_errors	ENST00000313132	ensembl	human	known	69_37n	missense	68	35.85	38	SNP	1.000	T
VMP1	81671	genome.wustl.edu	37	17	57842469	57842469	+	Silent	SNP	C	C	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr17:57842469C>T	ENST00000262291.4	+	6	862	c.552C>T	c.(550-552)atC>atT	p.I184I	VMP1_ENST00000537567.1_Silent_p.I50I|VMP1_ENST00000539763.1_5'UTR|VMP1_ENST00000545362.1_Intron|VMP1_ENST00000536180.1_Silent_p.I87I	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	184					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						GGAGTATCATCTCAAAAGTTA	0.373																																						dbGAP											0													148.0	136.0	140.0					17																	57842469		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.552C>T	17.37:g.57842469C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVV9|Q9H0P4|Q9P089	Silent	SNP	NULL	p.I184	ENST00000262291.4	37	c.552	CCDS11619.1	17																																																																																			VMP1	-	NULL	ENSG00000062716		0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	187	0.00	0	C	NM_030938		57842469	57842469	+1	no_errors	ENST00000262291	ensembl	human	known	69_37n	silent	518	12.35	73	SNP	1.000	T
WAC	51322	genome.wustl.edu	37	10	28824639	28824640	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:28824639_28824640delGT	ENST00000354911.4	+	3	388_389	c.227_228delGT	c.(226-228)agtfs	p.S76fs	WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000347934.4_Frame_Shift_Del_p.S76fs|WAC_ENST00000375646.1_Frame_Shift_Del_p.S31fs|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_Frame_Shift_Del_p.S31fs|WAC_ENST00000375664.4_Frame_Shift_Del_p.S31fs	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	76					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACAGGTCACAGTAAGGCCAAAA	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.227_228delGT	10.37:g.28824639_28824640delGT	ENSP00000346986:p.Ser76fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Frame_Shift_Del	DEL	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.S76fs	ENST00000354911.4	37	c.227_228	CCDS7159.1	10																																																																																			WAC	-	NULL	ENSG00000095787		0.411	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	151	0.00	0	GT	NM_100264		28824639	28824640	+1	no_errors	ENST00000354911	ensembl	human	known	69_37n	frame_shift_del	101	30.20	45	DEL	1.000:1.000	-
WDR17	116966	genome.wustl.edu	37	4	177041218	177041218	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr4:177041218A>C	ENST00000280190.4	+	5	736	c.580A>C	c.(580-582)Att>Ctt	p.I194L	WDR17_ENST00000508596.1_Missense_Mutation_p.I170L|WDR17_ENST00000507824.2_Missense_Mutation_p.I194L|WDR17_ENST00000393643.2_Missense_Mutation_p.I170L			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	194										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTTTGGTCATATTGATGGAAG	0.323																																						dbGAP											0													144.0	139.0	141.0					4																	177041218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.580A>C	4.37:g.177041218A>C	ENSP00000280190:p.Ile194Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I194L	ENST00000280190.4	37	c.580	CCDS3825.1	4	.	.	.	.	.	.	.	.	.	.	A	9.251	1.040867	0.19669	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.64991	-0.13;-0.13;-0.13	5.44	0.0258	0.14147	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.297221	0.35466	N	0.003196	T	0.42877	0.1222	L	0.40543	1.245	0.22531	N	0.999016	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.22695	-1.0209	10	0.11485	T	0.65	-5.2781	6.3653	0.21451	0.6203:0.248:0.1317:0.0	.	170;194	E7EQX0;Q8IZU2	.;WDR17_HUMAN	L	170;170;194;194	ENSP00000422763:I170L;ENSP00000377258:I170L;ENSP00000280190:I194L	ENSP00000280190:I194L	I	+	1	0	WDR17	177278212	1.000000	0.71417	0.978000	0.43139	0.572000	0.35998	2.706000	0.47135	-0.198000	0.10333	-1.117000	0.02048	ATT	WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000150627		0.323	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	125	0.00	0	A			177041218	177041218	+1	no_errors	ENST00000280190	ensembl	human	known	69_37n	missense	43	44.16	34	SNP	1.000	C
ZEB1	6935	genome.wustl.edu	37	10	31815819	31815819	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr10:31815819C>T	ENST00000320985.10	+	9	3112	c.3002C>T	c.(3001-3003)gCa>gTa	p.A1001V	ZEB1_ENST00000446923.2_Missense_Mutation_p.A985V|ZEB1_ENST00000542815.3_Missense_Mutation_p.A934V|ZEB1_ENST00000560721.2_Missense_Mutation_p.A981V|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1002V			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1001	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGGAAGAGGCAGGGCCTGAA	0.537																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													90.0	78.0	83.0					10																	31815819		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3002C>T	10.37:g.31815819C>T	ENSP00000319248:p.Ala1001Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.A1002V	ENST00000320985.10	37	c.3005	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533938	0.13188	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12879	2.95;2.65;2.69;2.64;2.69	4.89	4.89	0.63831	.	1.180840	0.06252	N	0.692226	T	0.12732	0.0309	L	0.27053	0.805	0.28078	N	0.932295	B;B;B;B;B	0.10296	0.002;0.003;0.001;0.003;0.001	B;B;B;B;B	0.12837	0.008;0.002;0.002;0.002;0.002	T	0.12967	-1.0527	10	0.27785	T	0.31	-2.277	11.9921	0.53182	0.0:0.9081:0.0:0.0919	.	934;985;981;1002;1001	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	V	783;1001;1002;996;934;1001;981;892;985	ENSP00000444282:A783V;ENSP00000354487:A1002V;ENSP00000444891:A934V;ENSP00000319248:A1001V;ENSP00000391612:A985V	ENSP00000319248:A1001V	A	+	2	0	ZEB1	31855825	0.000000	0.05858	0.229000	0.23960	0.069000	0.16628	0.609000	0.24238	2.271000	0.75665	0.650000	0.86243	GCA	ZEB1	-	NULL	ENSG00000148516		0.537	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	208	0.00	0	C	NM_030751		31815819	31815819	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	missense	110	35.29	60	SNP	0.844	T
ZNF131	7690	genome.wustl.edu	37	5	43161487	43161487	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FD-01A-11W-A050-09	TCGA-AN-A0FD-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	abae6f4c-2378-4fbd-adea-f739e6629b22	9ac897b6-9cc0-47f6-ae50-b286c8ead24c	g.chr5:43161487G>A	ENST00000399534.1	+	5	552	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ZNF131_ENST00000509156.1_Missense_Mutation_p.V170I|ZNF131_ENST00000505606.2_Missense_Mutation_p.V170I|ZNF131_ENST00000509634.1_Missense_Mutation_p.V170I|ZNF131_ENST00000306938.4_Missense_Mutation_p.V170I|ZNF131_ENST00000509931.1_Intron			P52739	ZN131_HUMAN	zinc finger protein 131	170					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGAAATTGAGGTAGAGATTGC	0.428																																						dbGAP											0													111.0	100.0	103.0					5																	43161487		1913	4133	6046	-	-	-	SO:0001583	missense	0			U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.508G>A	5.37:g.43161487G>A	ENSP00000382450:p.Val170Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRL3|Q6PIF0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.V170I	ENST00000399534.1	37	c.508		5	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063958	0.76187	.	.	ENSG00000172262	ENST00000515326;ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79868	0.4520	L	0.29908	0.895	0.53688	D	0.999979	D;D	0.64830	0.994;0.99	D;D	0.75484	0.97;0.986	T	0.78204	-0.2295	10	0.33141	T	0.24	-9.757	18.6914	0.91585	0.0:0.0:1.0:0.0	.	170;170	P52739;P52739-2	ZN131_HUMAN;.	I	170	ENSP00000422079:V170I;ENSP00000426504:V170I;ENSP00000305804:V170I;ENSP00000382450:V170I;ENSP00000423945:V170I;ENSP00000421246:V170I	ENSP00000305804:V170I	V	+	1	0	ZNF131	43197244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.344000	0.72991	2.429000	0.82318	0.650000	0.86243	GTA	ZNF131	-	NULL	ENSG00000172262		0.428	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	ZNF131	HGNC	protein_coding	OTTHUMT00000367982.1	88	0.00	0	G	NM_003432		43161487	43161487	+1	no_errors	ENST00000399534	ensembl	human	known	69_37n	missense	48	36.00	27	SNP	1.000	A
