#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_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_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
BRCA1	672	hgsc.bcm.edu	37	17	41245110	41245110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr17:41245110delC	ENST00000357654.3	-	10	2556	c.2438delG	c.(2437-2439)ggafs	p.G813fs	BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000354071.3_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000471181.2_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000493795.1_Frame_Shift_Del_p.G766fs|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000346315.3_Frame_Shift_Del_p.G813fs|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000309486.4_Frame_Shift_Del_p.G517fs|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	813					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G813fs*2(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATGAATTAGTCCCTTGGGGTT	0.403			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Deletion - Frameshift(1)	ovary(1)	17											223.0	222.0	222.0					17																	41245110		2203	4300	6503	38498636	SO:0001589	frameshift_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.2438delG	17.37:g.41245110delC	ENSP00000350283:p.Gly813fs		38498636	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Frame_Shift_Del	DEL	ENST00000357654.3	37	CCDS11453.1																																																																																				0.403	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
C16orf70	80262	hgsc.bcm.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C	rs539297455	byFrequency	TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1227)ggccccfs	p.GP408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.GP408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													CCCCCCT|CCCCCCC|CCCCCCCC|complex_insertion	5	0.000998403	0.0008	0.0029	5008	,	,		22846	0.0		0.0	False		,,,				2504	0.002															1	Insertion - Frameshift(1)	ovary(1)	16																																								65738490	SO:0001589	frameshift_variant	80262			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.1230dupC	16.37:g.67180995_67180995dupC	ENSP00000219139:p.Gly408fs		65738489	Q9HA86	Frame_Shift_Ins	INS	ENST00000219139.3	37	CCDS10828.1																																																																																				0.594	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
IL23R	149233	hgsc.bcm.edu	37	1	67648526	67648526	+	Silent	SNP	A	A	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:67648526A>T	ENST00000347310.5	+	4	546	c.375A>T	c.(373-375)ccA>ccT	p.P125P	IL23R_ENST00000371002.1_Silent_p.P125P|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	125					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)		p.P125P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAGATCCGCCAGATATTCCTG	0.438																																																1	Substitution - coding silent(1)	ovary(1)	1											164.0	161.0	162.0					1																	67648526		2203	4300	6503	67421114	SO:0001819	synonymous_variant	149233			AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.375A>T	1.37:g.67648526A>T			67421114	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	37	CCDS637.1																																																																																				0.438	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	NM_144701	
OTOF	9381	hgsc.bcm.edu	37	2	26696339	26696339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:26696339delA	ENST00000272371.2	-	28	3631	c.3505delT	c.(3505-3507)tcgfs	p.S1170fs	OTOF_ENST00000403946.3_Frame_Shift_Del_p.S1170fs|OTOF_ENST00000338581.6_Frame_Shift_Del_p.S423fs|OTOF_ENST00000339598.3_Frame_Shift_Del_p.S423fs|OTOF_ENST00000402415.3_Frame_Shift_Del_p.S480fs	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1170					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.S1169fs*3(1)|p.S422fs*3(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCAGGGACGACTGCACCCCC	0.602																																					GBM(102;732 1451 20652 24062 31372)											2	Deletion - Frameshift(2)	ovary(2)	2											79.0	75.0	76.0					2																	26696339		2203	4300	6503	26549843	SO:0001589	frameshift_variant	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3505delT	2.37:g.26696339delA	ENSP00000272371:p.Ser1170fs		26549843	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Frame_Shift_Del	DEL	ENST00000272371.2	37	CCDS1725.1																																																																																				0.602	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
SCAF11	9169	hgsc.bcm.edu	37	12	46320485	46320489	+	Frame_Shift_Del	DEL	TTTTC	TTTTC	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	TTTTC	TTTTC	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr12:46320485_46320489delTTTTC	ENST00000369367.3	-	11	3228_3232	c.2995_2999delGAAAA	c.(2995-3000)gaaaaafs	p.EK999fs	SCAF11_ENST00000549162.1_Frame_Shift_Del_p.EK807fs|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Frame_Shift_Del_p.EK999fs|SCAF11_ENST00000465950.1_Frame_Shift_Del_p.EK684fs	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	999					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E999fs*2(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						GATGTCATTTTTTTCTTTTCTTGTA	0.39																																																1	Deletion - Frameshift(1)	ovary(1)	12																																								44606756	SO:0001589	frameshift_variant	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2995_2999delGAAAA	12.37:g.46320490_46320494delTTTTC	ENSP00000358374:p.Glu999fs		44606752	A6NEU9|A6NLW5|Q8IW59	Frame_Shift_Del	DEL	ENST00000369367.3	37	CCDS8748.2																																																																																				0.390	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
VILL	50853	hgsc.bcm.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C	rs374442833		TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1432-1434)cccfs	p.P478fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.P478fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.P196fs			O15195	VILL_HUMAN	villin-like	478					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594																																																1	Insertion - Frameshift(1)	ovary(1)	3								6,4260		0,6,2127						5.0	1.0			127	3,8251		0,3,4124	no	frameshift	VILL	NM_015873.3		0,9,6251	A1A1,A1R,RR		0.0363,0.1406,0.0719				9,12511				38018308	SO:0001589	frameshift_variant	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.1438dupC	3.37:g.38043310_38043310dupC	ENSP00000283713:p.Pro478fs		38018307	A8MZP1|Q9BT80|Q9BWH7	Frame_Shift_Ins	INS	ENST00000283713.6	37	CCDS2670.2																																																																																				0.594	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253360.3	NM_015873	
MAP3K19	80122	hgsc.bcm.edu	37	2	135744151	135744151	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:135744151T>A	ENST00000375845.3	-	7	2321	c.2291A>T	c.(2290-2292)gAa>gTa	p.E764V	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E651V|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E781V|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	764							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E116V(1)|p.E764V(1)									CCAGTCTGGTTCTGAAATACC	0.388																																																2	Substitution - Missense(2)	ovary(2)	2											73.0	73.0	73.0					2																	135744151		2203	4300	6503	135460621	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2291A>T	2.37:g.135744151T>A	ENSP00000365005:p.Glu764Val		135460621	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	13.12	2.141336	0.37825	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.76709	-1.04;-0.98;1.32;-1.03	4.75	3.56	0.40772	.	0.428095	0.19756	N	0.106764	T	0.61173	0.2326	L	0.32530	0.975	0.30279	N	0.791468	B;P;B	0.37207	0.091;0.587;0.221	B;B;B	0.32465	0.07;0.146;0.07	T	0.63225	-0.6685	10	0.72032	D	0.01	.	3.551	0.07845	0.1673:0.205:0.0:0.6277	.	651;781;764	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	V	764;651;781;154	ENSP00000365005:E764V;ENSP00000351140:E651V;ENSP00000376647:E781V;ENSP00000392827:E154V	ENSP00000351140:E651V	E	-	2	0	YSK4	135460621	0.821000	0.29204	0.554000	0.28268	0.799000	0.45148	0.563000	0.23547	0.794000	0.33899	0.334000	0.21626	GAA		0.388	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
ATP13A5	344905	hgsc.bcm.edu	37	3	193042719	193042719	+	Silent	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr3:193042719C>T	ENST00000342358.4	-	14	1725	c.1608G>A	c.(1606-1608)ctG>ctA	p.L536L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	536						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L536L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGAGAAGGATCAGAGAGTGGC	0.542																																																1	Substitution - coding silent(1)	ovary(1)	3											123.0	130.0	128.0					3																	193042719		2203	4300	6503	194525413	SO:0001819	synonymous_variant	344905			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.1608G>A	3.37:g.193042719C>T			194525413	Q6UWS4|Q6ZWL0	Silent	SNP	ENST00000342358.4	37	CCDS33914.1																																																																																				0.542	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505	
CDIP1	29965	hgsc.bcm.edu	37	16	4562577	4562577	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr16:4562577C>A	ENST00000399599.3	-	5	1171	c.623G>T	c.(622-624)tGc>tTc	p.C208F	CDIP1_ENST00000563507.1_Missense_Mutation_p.C169F|CDIP1_ENST00000562334.1_Missense_Mutation_p.C129F|CDIP1_ENST00000564828.1_3'UTR|CDIP1_ENST00000563332.2_Missense_Mutation_p.C208F|CDIP1_ENST00000567695.1_Missense_Mutation_p.C208F			Q9H305	CDIP1_HUMAN	cell death-inducing p53 target 1	208					apoptotic process (GO:0006915)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	nucleus (GO:0005634)		p.C208F(1)									GCTCCGTTAGCACAGGCGCTT	0.607																																																1	Substitution - Missense(1)	ovary(1)	16											59.0	63.0	62.0					16																	4562577		2108	4246	6354	4502578	SO:0001583	missense	29965			AF131218	CCDS42114.1, CCDS58419.1, CCDS58420.1	16p13.3	2012-11-14	2012-11-14	2012-11-14	ENSG00000089486	ENSG00000089486			13234	protein-coding gene	gene with protein product	"""cell death involved p53-target"", ""lipopolysaccharide-induced TNF factor-like"""	610503	"""chromosome 16 open reading frame 5"""	C16orf5		10570909, 17599062	Standard	NM_013399		Approved	CDIP, LITAFL	uc002cww.3	Q9H305	OTTHUMG00000177172	ENST00000399599.3:c.623G>T	16.37:g.4562577C>A	ENSP00000382508:p.Cys208Phe		4502578	A8K7M1|B4DFU1|B4DY75|D3DUD6|Q96ID8|Q9H0Q4|Q9P112	Missense_Mutation	SNP	ENST00000399599.3	37	CCDS42114.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957722	0.92726	.	.	ENSG00000089486	ENST00000399599	D	0.93659	-3.26	5.85	5.85	0.93711	.	.	.	.	.	D	0.95551	0.8554	L	0.48877	1.53	0.80722	D	1	D;D;D	0.63046	0.98;0.992;0.98	D;D;D	0.74023	0.962;0.982;0.974	D	0.95680	0.8731	9	0.87932	D	0	-8.7833	18.7358	0.91753	0.0:1.0:0.0:0.0	.	129;169;208	B4DY75;B4DFU1;Q9H305	.;.;LITFL_HUMAN	F	208	ENSP00000382508:C208F	ENSP00000382508:C208F	C	-	2	0	C16orf5	4502578	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.629000	0.83207	2.767000	0.95098	0.655000	0.94253	TGC		0.607	CDIP1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435718.2	NM_013399	
C5orf22	55322	hgsc.bcm.edu	37	5	31545772	31545772	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr5:31545772C>T	ENST00000325366.9	+	7	1139	c.1012C>T	c.(1012-1014)Ctt>Ttt	p.L338F	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	338								p.L338F(1)|p.L338I(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						ACTAGTTCCCCTTGTACAGAG	0.308																																																2	Substitution - Missense(2)	ovary(1)|lung(1)	5											162.0	164.0	163.0					5																	31545772		2203	4299	6502	31581529	SO:0001583	missense	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1012C>T	5.37:g.31545772C>T	ENSP00000326879:p.Leu338Phe		31581529	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.747221	0.89663	.	.	ENSG00000082213	ENST00000325366;ENST00000543911	T	0.38077	1.16	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62426	-0.6857	10	0.54805	T	0.06	-23.337	19.4899	0.95046	0.0:1.0:0.0:0.0	.	338	Q49AR2	CE022_HUMAN	F	338;73	ENSP00000326879:L338F	ENSP00000326879:L338F	L	+	1	0	C5orf22	31581529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.954000	0.63631	2.603000	0.88011	0.555000	0.69702	CTT		0.308	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356	
CNGB3	54714	hgsc.bcm.edu	37	8	87679289	87679289	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr8:87679289C>T	ENST00000320005.5	-	6	763	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	239					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R239H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAAGACGAGGCGCAGTGGTAT	0.428																																																1	Substitution - Missense(1)	ovary(1)	8											112.0	103.0	106.0					8																	87679289		2203	4300	6503	87748405	SO:0001583	missense	54714			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.716G>A	8.37:g.87679289C>T	ENSP00000316605:p.Arg239His		87748405	C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943318	0.92593	.	.	ENSG00000170289	ENST00000320005	T	0.14266	2.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.55159	-0.8184	10	0.87932	D	0	.	19.4973	0.95079	0.0:1.0:0.0:0.0	.	239;239	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	239	ENSP00000316605:R239H	ENSP00000316605:R239H	R	-	2	0	CNGB3	87748405	1.000000	0.71417	0.949000	0.38748	0.654000	0.38779	6.033000	0.70925	2.608000	0.88229	0.655000	0.94253	CGC		0.428	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	
ERCC6L	54821	hgsc.bcm.edu	37	X	71426275	71426275	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chrX:71426275G>A	ENST00000334463.3	-	2	2477	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	ERCC6L_ENST00000373657.1_Missense_Mutation_p.P658L|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	781					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P781L(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ACCCTCTTTGGGCAGATCATC	0.413																																																1	Substitution - Missense(1)	ovary(1)	X											132.0	120.0	124.0					X																	71426275		2203	4300	6503	71343000	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2342C>T	X.37:g.71426275G>A	ENSP00000334675:p.Pro781Leu		71343000	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037925	0.35989	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90504	-2.65;-2.68	5.04	4.11	0.48088	.	.	.	.	.	D	0.86418	0.5928	L	0.44542	1.39	0.09310	N	1	B	0.20052	0.041	B	0.16289	0.015	T	0.77915	-0.2409	9	0.49607	T	0.09	-1.4678	11.1586	0.48501	0.0:0.0:0.8157:0.1843	.	781	Q2NKX8	ERC6L_HUMAN	L	658;781	ENSP00000362761:P658L;ENSP00000334675:P781L	ENSP00000334675:P781L	P	-	2	0	ERCC6L	71343000	0.000000	0.05858	0.005000	0.12908	0.101000	0.19017	0.184000	0.16939	2.230000	0.72887	0.594000	0.82650	CCC		0.413	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
MTF2	22823	hgsc.bcm.edu	37	1	93602348	93602348	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:93602348G>T	ENST00000370298.4	+	15	1835	c.1546G>T	c.(1546-1548)Gta>Tta	p.V516L	MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_Missense_Mutation_p.V414L|MTF2_ENST00000370303.4_Missense_Mutation_p.V459L|MTF2_ENST00000545708.1_Missense_Mutation_p.V414L	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	516					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.V516L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CTCAGAAATTGTAAAAGATGA	0.408																																																1	Substitution - Missense(1)	ovary(1)	1											92.0	89.0	90.0					1																	93602348		2203	4300	6503	93374936	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1546G>T	1.37:g.93602348G>T	ENSP00000359321:p.Val516Leu		93374936	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275947	0.40294	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000370303	T;T;T;T	0.29397	1.57;1.57;1.98;1.96	5.9	4.99	0.66335	.	0.327890	0.33040	N	0.005355	T	0.08044	0.0201	N	0.14661	0.345	0.37965	D	0.933083	B;B;B	0.22003	0.063;0.001;0.004	B;B;B	0.19666	0.026;0.001;0.004	T	0.11817	-1.0572	10	0.28530	T	0.3	-6.841	11.0071	0.47641	0.1414:0.0:0.8586:0.0	.	459;516;414	B1AKT6;Q9Y483;B4DZG1	.;MTF2_HUMAN;.	L	414;414;516;459	ENSP00000444962:V414L;ENSP00000443295:V414L;ENSP00000359321:V516L;ENSP00000359326:V459L	ENSP00000359321:V516L	V	+	1	0	MTF2	93374936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.133000	0.64764	1.511000	0.48818	0.655000	0.94253	GTA		0.408	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028075.3	NM_007358	
HHIPL2	79802	hgsc.bcm.edu	37	1	222717252	222717252	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr1:222717252G>A	ENST00000343410.6	-	2	659	c.601C>T	c.(601-603)Cct>Tct	p.P201S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	201					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)	p.P201S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGCCCTGAGGATCTTGGGCC	0.602																																																1	Substitution - Missense(1)	ovary(1)	1											53.0	56.0	55.0					1																	222717252		2203	4300	6503	220783875	SO:0001583	missense	79802			BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.601C>T	1.37:g.222717252G>A	ENSP00000342118:p.Pro201Ser		220783875	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	37	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.859147	0.00552	.	.	ENSG00000143512	ENST00000343410	T	0.73789	-0.78	5.31	3.43	0.39272	Folate receptor-like (1);Six-bladed beta-propeller, TolB-like (1);	1.193380	0.06390	N	0.716982	T	0.68586	0.3017	L	0.55103	1.725	0.09310	N	1	B	0.13594	0.008	B	0.15052	0.012	T	0.51348	-0.8717	10	0.27082	T	0.32	1.4485	6.4166	0.21719	0.073:0.1313:0.6598:0.1359	.	201	Q6UWX4	HIPL2_HUMAN	S	201	ENSP00000342118:P201S	ENSP00000342118:P201S	P	-	1	0	HHIPL2	220783875	0.091000	0.21658	0.031000	0.17742	0.013000	0.08279	0.446000	0.21694	0.603000	0.29913	0.467000	0.42956	CCT		0.602	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
PTK2	5747	hgsc.bcm.edu	37	8	141829027	141829027	+	Silent	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr8:141829027C>A	ENST00000522684.1	-	9	970	c.741G>T	c.(739-741)ctG>ctT	p.L247L	PTK2_ENST00000517887.1_Silent_p.L291L|PTK2_ENST00000340930.3_Silent_p.L247L|PTK2_ENST00000519419.1_Silent_p.L291L|PTK2_ENST00000535192.1_Silent_p.L247L|PTK2_ENST00000395218.2_Silent_p.L247L|PTK2_ENST00000521059.1_Silent_p.L247L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	247	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)	p.L269L(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			AGACTGGAGACAGGATCTCAA	0.358																																																1	Substitution - coding silent(1)	ovary(1)	8											170.0	170.0	170.0					8																	141829027		2203	4299	6502	141898209	SO:0001819	synonymous_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.741G>T	8.37:g.141829027C>A			141898209	B4E2N6|F5H4S4|Q14291|Q9UD85	Silent	SNP	ENST00000522684.1	37	CCDS6381.1	.	.	.	.	.	.	.	.	.	.	C	9.421	1.082979	0.20309	.	.	ENSG00000169398	ENST00000519654	.	.	.	5.6	-3.82	0.04281	.	.	.	.	.	T	0.49389	0.1554	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43294	-0.9400	4	.	.	.	.	6.3336	0.21285	0.0902:0.3938:0.4205:0.0955	.	.	.	.	F	258	.	.	V	-	1	0	PTK2	141898209	0.833000	0.29383	0.872000	0.34217	0.996000	0.88848	-0.144000	0.10280	-1.071000	0.03145	-0.165000	0.13383	GTC		0.358	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	NM_005607	
SLITRK1	114798	hgsc.bcm.edu	37	13	84455109	84455109	+	Silent	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr13:84455109G>T	ENST00000377084.2	-	1	1419	c.534C>A	c.(532-534)ccC>ccA	p.P178P		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	178					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.P178P(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGTGGGTGATGGGCACATACT	0.537																																																1	Substitution - coding silent(1)	ovary(1)	13											95.0	94.0	94.0					13																	84455109		2203	4300	6503	83353110	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.534C>A	13.37:g.84455109G>T			83353110	Q5U5I6|Q96SF9	Silent	SNP	ENST00000377084.2	37	CCDS9464.1																																																																																				0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
TMEM180	79847	hgsc.bcm.edu	37	10	104229753	104229753	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:104229753G>C	ENST00000238936.4	+	4	409	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L	TMEM180_ENST00000450947.2_3'UTR|TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.V58L	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	58						integral component of membrane (GO:0016021)		p.V58L(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CCTGCAGACAGTGTTTCTCCT	0.612																																																1	Substitution - Missense(1)	ovary(1)	10											136.0	94.0	108.0					10																	104229753		2203	4300	6503	104219743	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.172G>C	10.37:g.104229753G>C	ENSP00000238936:p.Val58Leu		104219743	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969430	0.53614	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.88586	-2.4	5.08	5.08	0.68730	Major facilitator superfamily domain, general substrate transporter (1);	0.192894	0.45606	D	0.000357	D	0.86104	0.5853	L	0.56769	1.78	0.80722	D	1	B;P;P	0.43578	0.451;0.793;0.811	B;B;B	0.40534	0.07;0.329;0.332	D	0.85204	0.1017	10	0.35671	T	0.21	.	11.8955	0.52654	0.0804:0.0:0.9196:0.0	.	58;58;58	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	L	58	ENSP00000238936:V58L	ENSP00000238936:V58L	V	+	1	0	TMEM180	104219743	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	5.867000	0.69597	2.365000	0.80145	0.491000	0.48974	GTG		0.612	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789	
TMPO	7112	hgsc.bcm.edu	37	12	98921763	98921763	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr12:98921763T>C	ENST00000556029.1	+	2	735	c.379T>C	c.(379-381)Tac>Cac	p.Y127H	TMPO_ENST00000266732.4_Missense_Mutation_p.Y127H|TMPO_ENST00000393053.2_Missense_Mutation_p.Y127H|TMPO_ENST00000261210.5_Missense_Mutation_p.Y127H|TMPO_ENST00000343315.5_Missense_Mutation_p.Y127H	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	127	LEM. {ECO:0000255|PROSITE- ProRule:PRU00313}.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)	p.Y127H(2)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTTGTGAAATACGGAGTGAA	0.353																																																2	Substitution - Missense(2)	ovary(2)	12											158.0	163.0	161.0					12																	98921763		2203	4300	6503	97445894	SO:0001583	missense	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.379T>C	12.37:g.98921763T>C	ENSP00000450627:p.Tyr127His		97445894	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748818	0.30955	.	.	ENSG00000120802	ENST00000556029;ENST00000343315;ENST00000266732;ENST00000393053;ENST00000261210;ENST00000556678	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	4.89	3.74	0.42951	LEM-like domain (4);Lamino-associated polypeptide 2/emerin (6);	0.055722	0.85682	D	0.000000	T	0.52821	0.1758	L	0.43701	1.375	0.53005	D	0.999968	B;B;B;P	0.36086	0.285;0.013;0.121;0.536	B;B;B;P	0.48552	0.377;0.022;0.111;0.581	T	0.47560	-0.9108	10	0.38643	T	0.18	.	8.3687	0.32402	0.0:0.1644:0.0:0.8356	.	160;127;127;127	Q59G12;P42167;A2T926;P42166	.;LAP2B_HUMAN;.;LAP2A_HUMAN	H	127;127;127;127;127;34	ENSP00000450627:Y127H;ENSP00000340251:Y127H;ENSP00000266732:Y127H;ENSP00000376773:Y127H;ENSP00000261210:Y127H;ENSP00000451552:Y34H	ENSP00000261210:Y127H	Y	+	1	0	TMPO	97445894	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	3.283000	0.51701	0.715000	0.32103	0.482000	0.46254	TAC		0.353	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
AKR1C4	1109	hgsc.bcm.edu	37	10	5247796	5247796	+	Splice_Site	SNP	A	A	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:5247796A>C	ENST00000380448.1	+	6	699	c.446A>C	c.(445-447)gAg>gCg	p.E149A	AKR1C4_ENST00000263126.1_Splice_Site_p.E149A			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	149					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)	p.E149A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GCCACATGGGAGGTGAGTGCT	0.448																																																1	Substitution - Missense(1)	ovary(1)	10											119.0	105.0	109.0					10																	5247796		2203	4300	6503	5237796	SO:0001630	splice_region_variant	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.447+1A>C	10.37:g.5247796A>C			5237796	Q5T6A3|Q8WW84|Q9NS54	Missense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	A	9.951	1.220177	0.22373	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	T;T	0.52983	0.64;0.64	3.16	3.16	0.36331	NADP-dependent oxidoreductase domain (3);	0.270365	0.31031	N	0.008395	T	0.41673	0.1169	L	0.28740	0.885	0.45025	D	0.998044	B	0.25441	0.126	B	0.39904	0.313	T	0.38845	-0.9642	10	0.48119	T	0.1	.	9.6032	0.39617	1.0:0.0:0.0:0.0	.	149	P17516	AK1C4_HUMAN	A	149	ENSP00000369814:E149A;ENSP00000263126:E149A	ENSP00000263126:E149A	E	+	2	0	AKR1C4	5237796	1.000000	0.71417	0.995000	0.50966	0.028000	0.11728	7.251000	0.78297	1.195000	0.43115	0.260000	0.18958	GAG		0.448	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	Missense_Mutation
DUSP19	142679	hgsc.bcm.edu	37	2	183943752	183943752	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr2:183943752A>G	ENST00000354221.4	+	1	266	c.91A>G	c.(91-93)Att>Gtt	p.I31V	DUSP19_ENST00000342619.6_Missense_Mutation_p.I31V|DUSP19_ENST00000469344.1_3'UTR	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	31					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.I31V(1)		breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGGAAAGAAAATTATAGAAAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	2											116.0	118.0	118.0					2																	183943752		2203	4300	6503	183651997	SO:0001583	missense	142679			AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.91A>G	2.37:g.183943752A>G	ENSP00000346160:p.Ile31Val		183651997	B2RA79|Q547H4|Q8WYN4	Missense_Mutation	SNP	ENST00000354221.4	37	CCDS2289.1	.	.	.	.	.	.	.	.	.	.	A	14.99	2.701751	0.48307	.	.	ENSG00000162999	ENST00000342619;ENST00000354221	T;T	0.16196	2.36;3.77	6.17	2.21	0.28008	.	0.385018	0.29868	N	0.010989	T	0.12902	0.0313	L	0.34521	1.04	0.32762	N	0.504902	B;B	0.17667	0.023;0.016	B;B	0.12156	0.007;0.004	T	0.13150	-1.0520	10	0.19147	T	0.46	.	14.4546	0.67409	0.5978:0.4022:0.0:0.0	.	31;31	Q8WTR2-2;Q8WTR2	.;DUS19_HUMAN	V	31	ENSP00000343905:I31V;ENSP00000346160:I31V	ENSP00000343905:I31V	I	+	1	0	DUSP19	183651997	0.985000	0.35326	0.984000	0.44739	0.991000	0.79684	1.272000	0.33109	1.134000	0.42165	0.533000	0.62120	ATT		0.453	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255866.1		
KIAA2026	158358	hgsc.bcm.edu	37	9	5923031	5923031	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr9:5923031C>A	ENST00000399933.3	-	8	2964	c.2965G>T	c.(2965-2967)Gcc>Tcc	p.A989S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.A959S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	989								p.A164S(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TCCAATGAGGCAAATGACTCT	0.403																																																1	Substitution - Missense(1)	ovary(1)	9											147.0	137.0	140.0					9																	5923031		1909	4134	6043	5913031	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.2965G>T	9.37:g.5923031C>A	ENSP00000382815:p.Ala989Ser		5913031	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37		.	.	.	.	.	.	.	.	.	.	C	9.979	1.227596	0.22542	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.4	3.46	0.39613	.	0.363764	0.23477	N	0.047759	T	0.24431	0.0592	N	0.17082	0.46	0.25971	N	0.982499	B	0.23377	0.084	B	0.18561	0.022	T	0.12837	-1.0532	9	0.27082	T	0.32	-1.7065	9.7186	0.40289	0.2921:0.5809:0.127:0.0	.	989	Q5HYC2	K2026_HUMAN	S	989;959	.	ENSP00000370870:A959S	A	-	1	0	KIAA2026	5913031	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.765000	0.38481	1.247000	0.43917	0.462000	0.41574	GCC		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
NAT10	55226	hgsc.bcm.edu	37	11	34158196	34158196	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr11:34158196G>A	ENST00000257829.3	+	20	2242	c.2036G>A	c.(2035-2037)aGc>aAc	p.S679N	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.S607N	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	679	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)	p.S679N(1)		endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGGCTGTCAGCTTGTTGGAA	0.557																																																1	Substitution - Missense(1)	ovary(1)	11											97.0	86.0	90.0					11																	34158196		2202	4298	6500	34114772	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2036G>A	11.37:g.34158196G>A	ENSP00000257829:p.Ser679Asn		34114772	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	G	14.83	2.652334	0.47362	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.31769	1.48;1.48	5.4	5.4	0.78164	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (1);	0.035614	0.85682	D	0.000000	T	0.27798	0.0684	L	0.33710	1.025	0.80722	D	1	B	0.06786	0.001	B	0.12837	0.008	T	0.03060	-1.1077	10	0.29301	T	0.29	-17.3389	19.1798	0.93619	0.0:0.0:1.0:0.0	.	679	Q9H0A0	NAT10_HUMAN	N	679;607	ENSP00000257829:S679N;ENSP00000433011:S607N	ENSP00000257829:S679N	S	+	2	0	NAT10	34114772	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	9.869000	0.99810	2.537000	0.85549	0.561000	0.74099	AGC		0.557	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662	
PORCN	64840	hgsc.bcm.edu	37	X	48374143	48374143	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chrX:48374143G>A	ENST00000326194.6	+	10	1028	c.985G>A	c.(985-987)Gct>Act	p.A329T	PORCN_ENST00000355961.4_Missense_Mutation_p.A324T|PORCN_ENST00000367574.4_Missense_Mutation_p.A247T|PORCN_ENST00000355092.3_Missense_Mutation_p.A323T|PORCN_ENST00000537758.1_Missense_Mutation_p.A329T|PORCN_ENST00000361988.3_Missense_Mutation_p.A318T|PORCN_ENST00000359882.4_Missense_Mutation_p.A323T	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	329					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)	p.A329T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCTTCTCGGCTGTGCTGGT	0.612																																																1	Substitution - Missense(1)	ovary(1)	X											53.0	50.0	51.0					X																	48374143		2203	4300	6503	48259087	SO:0001583	missense	64840			AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.985G>A	X.37:g.48374143G>A	ENSP00000322304:p.Ala329Thr		48259087	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845188	0.91197	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.998;1.0;1.0	D	0.91072	0.4893	10	0.87932	D	0	-13.6158	14.4711	0.67517	0.0:0.0:1.0:0.0	.	323;329;247;318;324	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	T	323;329;247;324;318;329;323	ENSP00000352946:A323T;ENSP00000446401:A329T;ENSP00000356546:A247T;ENSP00000348233:A324T;ENSP00000354978:A318T;ENSP00000322304:A329T;ENSP00000347207:A323T	ENSP00000322304:A329T	A	+	1	0	PORCN	48259087	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	8.900000	0.92551	2.084000	0.62774	0.529000	0.55759	GCT		0.612	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356990.1	NM_022825	
SETDB2	83852	hgsc.bcm.edu	37	13	50055232	50055232	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr13:50055232C>A	ENST00000317257.8	+	9	1997	c.1172C>A	c.(1171-1173)aCa>aAa	p.T391K	SETDB2_ENST00000354234.4_Missense_Mutation_p.T379K|SETDB2_ENST00000258672.5_Missense_Mutation_p.T379K	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	391	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)	p.T391K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GACAGAGGGACATTTGTTTGC	0.398																																																1	Substitution - Missense(1)	ovary(1)	13											143.0	128.0	133.0					13																	50055232		2203	4300	6503	48953233	SO:0001583	missense	83852			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.1172C>A	13.37:g.50055232C>A	ENSP00000326477:p.Thr391Lys		48953233	Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	ENST00000317257.8	37	CCDS9417.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162959	0.78226	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.82984	-1.67;-1.67;-1.67	5.72	4.88	0.63580	SET domain (3);	0.049083	0.85682	D	0.000000	D	0.89805	0.6821	M	0.66939	2.045	0.45139	D	0.998154	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;D	0.97110	0.996;0.999;1.0;0.911	D	0.90856	0.4735	10	0.87932	D	0	.	14.6798	0.69009	0.0:0.9305:0.0:0.0695	.	391;379;391;109	Q96T68-3;Q96T68-2;Q96T68;Q59FW0	.;.;SETB2_HUMAN;.	K	379;391;379	ENSP00000346175:T379K;ENSP00000326477:T391K;ENSP00000258672:T379K	ENSP00000258672:T379K	T	+	2	0	SETDB2	48953233	0.999000	0.42202	0.819000	0.32651	0.952000	0.60782	6.008000	0.70739	1.436000	0.47453	0.655000	0.94253	ACA		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044925.1	NM_031915	
ZEB1	6935	hgsc.bcm.edu	37	10	31791301	31791301	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr10:31791301T>A	ENST00000320985.10	+	4	455	c.345T>A	c.(343-345)gaT>gaA	p.D115E	ZEB1_ENST00000542815.3_Missense_Mutation_p.D48E|ZEB1_ENST00000361642.5_Missense_Mutation_p.D116E|ZEB1_ENST00000560721.2_Missense_Mutation_p.D95E|ZEB1_ENST00000446923.2_Missense_Mutation_p.D99E|ZEB1_ENST00000559858.1_3'UTR			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	115					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)	p.D115E(1)		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)				GCGAGTCAGATGCAGAAAATG	0.358																																					Ovarian(40;423 959 14296 36701 49589)											1	Substitution - Missense(1)	ovary(1)	10											110.0	101.0	104.0					10																	31791301		2203	4300	6503	31831307	SO:0001583	missense	6935			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.345T>A	10.37:g.31791301T>A	ENSP00000319248:p.Asp115Glu		31831307	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.34|19.34	3.808129|3.808129	0.70797|0.70797	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	T;T;T;T;T|.	0.81415|.	-1.49;-1.49;-1.49;-1.49;-1.49|.	5.92|5.92	2.35|2.35	0.29111|0.29111	.|.	0.099877|.	0.44285|.	D|.	0.000462|.	T|T	0.57388|0.57388	0.2050|0.2050	L|L	0.46157|0.46157	1.445|1.445	0.50171|0.50171	D|D	0.99985|0.99985	P;P;P;P;P;P|.	0.45044|.	0.702;0.849;0.849;0.589;0.849;0.849|.	B;B;P;B;P;P|.	0.47102|.	0.421;0.386;0.514;0.145;0.537;0.514|.	T|T	0.55431|0.55431	-0.8142|-0.8142	10|6	0.22706|0.87932	T|D	0.39|0	-26.901|-26.901	8.5821|8.5821	0.33634|0.33634	0.0:0.2766:0.0:0.7234|0.0:0.2766:0.0:0.7234	.|.	48;99;115;95;116;115|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	E|K	115;116;115;48;115;95;116;99|7	ENSP00000354487:D116E;ENSP00000444891:D48E;ENSP00000319248:D115E;ENSP00000415961:D116E;ENSP00000391612:D99E|.	ENSP00000319248:D115E|ENSP00000443742:M7K	D|M	+|+	3|2	2|0	ZEB1|ZEB1	31831307|31831307	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.412000|0.412000	0.21131|0.21131	0.158000|0.158000	0.19367|0.19367	-0.263000|-0.263000	0.10527|0.10527	GAT|ATG		0.358	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ZNF554	115196	hgsc.bcm.edu	37	19	2832405	2832405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	-	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr19:2832405delC	ENST00000317243.5	+	4	556	c.358delC	c.(358-360)cttfs	p.L120fs	ZNF554_ENST00000591265.1_Frame_Shift_Del_p.L120fs	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	120	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L120fs*18(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGTATTTACTTTTTCAACC	0.478																																																1	Deletion - Frameshift(1)	ovary(1)	19											149.0	148.0	148.0					19																	2832405		1877	4105	5982	2783405	SO:0001589	frameshift_variant	115196			AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.358delC	19.37:g.2832405delC	ENSP00000321132:p.Leu120fs		2783405	Q8NAT3|Q9BWN3	Frame_Shift_Del	DEL	ENST00000317243.5	37	CCDS42462.1																																																																																				0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303	
TP53	7157	hgsc.bcm.edu	37	17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr17:7578535T>C	ENST00000269305.4	-	5	584	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R|TP53_ENST00000420246.2_Missense_Mutation_p.K132R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1694291}.|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAAACATCTTGTTGAGGGC	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	90	Substitution - Missense(64)|Deletion - In frame(13)|Whole gene deletion(8)|Deletion - Frameshift(5)	lung(15)|ovary(12)|large_intestine(11)|central_nervous_system(8)|oesophagus(7)|breast(5)|bone(5)|upper_aerodigestive_tract(4)|biliary_tract(4)|urinary_tract(4)|haematopoietic_and_lymphoid_tissue(3)|adrenal_gland(2)|kidney(2)|prostate(2)|liver(2)|stomach(1)|endometrium(1)|skin(1)|pancreas(1)	17											46.0	47.0	47.0					17																	7578535		2203	4300	6503	7519260	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.395A>G	17.37:g.7578535T>C	ENSP00000269305:p.Lys132Arg		7519260	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.072716	0.76415	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99849	-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15;-7.15	5.48	4.41	0.53225	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.84326	2.69	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.998;1.0	D;D;D;D;D;D;D	0.97110	0.992;0.991;0.985;0.989;0.995;0.988;1.0	D	0.97766	1.0223	10	0.87932	D	0	-14.0777	9.8103	0.40820	0.0:0.082:0.0:0.918	.	93;132;132;39;132;132;132	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	132;132;132;132;132;132;121;39;39;132	ENSP00000410739:K132R;ENSP00000352610:K132R;ENSP00000269305:K132R;ENSP00000398846:K132R;ENSP00000391127:K132R;ENSP00000391478:K132R;ENSP00000423862:K39R;ENSP00000424104:K132R	ENSP00000269305:K132R	K	-	2	0	TP53	7519260	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	7.993000	0.88291	1.020000	0.39573	-0.256000	0.11100	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DDX49	54555	hgsc.bcm.edu	37	19	19037162	19037162	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr19:19037162G>T	ENST00000247003.4	+	10	1145	c.1078G>T	c.(1078-1080)Gtg>Ttg	p.V360L	DDX49_ENST00000599156.1_3'UTR|DDX49_ENST00000438170.2_3'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	360	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.V360L(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CATCCACCTGGTGCACGCCAT	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											75.0	49.0	58.0					19																	19037162		2194	4277	6471	18898162	SO:0001583	missense	54555				CCDS12390.1	19p12	2008-02-05				ENSG00000105671		"""DEAD-boxes"""	18684	protein-coding gene	gene with protein product							Standard	NM_019070		Approved	FLJ10432	uc002nkq.2	Q9Y6V7		ENST00000247003.4:c.1078G>T	19.37:g.19037162G>T	ENSP00000247003:p.Val360Leu		18898162	E7ENA0|Q53FJ1|Q9BVQ8	Missense_Mutation	SNP	ENST00000247003.4	37	CCDS12390.1	.	.	.	.	.	.	.	.	.	.	G	5.109	0.205661	0.09704	.	.	ENSG00000105671	ENST00000247003	T	0.04083	3.71	4.68	-1.53	0.08611	Helicase, C-terminal (1);	0.379970	0.26241	N	0.025507	T	0.01661	0.0053	N	0.02751	-0.505	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51252	-0.8729	10	0.02654	T	1	-8.19	11.7456	0.51817	0.0:0.3799:0.5042:0.1159	.	360	Q9Y6V7	DDX49_HUMAN	L	360	ENSP00000247003:V360L	ENSP00000247003:V360L	V	+	1	0	DDX49	18898162	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	2.512000	0.45485	0.010000	0.14839	0.561000	0.74099	GTG		0.637	DDX49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464593.1	NM_019070	
FTSJ2	29960	hgsc.bcm.edu	37	7	2279193	2279193	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr7:2279193C>T	ENST00000242257.8	-	2	186	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	FTSJ2_ENST00000407040.1_5'Flank|NUDT1_ENST00000397048.1_5'Flank|NUDT1_ENST00000397046.1_5'Flank|NUDT1_ENST00000356714.1_5'Flank|FTSJ2_ENST00000486040.1_5'UTR|NUDT1_ENST00000397049.1_5'Flank|FTSJ2_ENST00000440306.2_Missense_Mutation_p.R53Q	NM_013393.1	NP_037525.1			FtsJ RNA methyltransferase homolog 2 (E. coli)									p.R53Q(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GCTTCGACACCGGTAACTCTC	0.622																																																1	Substitution - Missense(1)	ovary(1)	7											80.0	76.0	77.0					7																	2279193		2203	4300	6503	2245719	SO:0001583	missense	29960			AF093415	CCDS5328.1	7p22	2012-06-12	2012-06-12		ENSG00000122687	ENSG00000122687			16352	protein-coding gene	gene with protein product	"""rRNA (uridine-2'-O-)-methyltransferase"", ""MRM2 RNA methyltransferase homolog (S. cerevisiae)"""	606906				11827451	Standard	NM_013393		Approved	FJH1, MRM2	uc003slm.3	Q9UI43	OTTHUMG00000023866	ENST00000242257.8:c.158G>A	7.37:g.2279193C>T	ENSP00000242257:p.Arg53Gln		2245719		Missense_Mutation	SNP	ENST00000242257.8	37	CCDS5328.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066759	0.93898	.	.	ENSG00000122687	ENST00000242257;ENST00000440306	T;T	0.37058	1.22;1.22	5.96	5.96	0.96718	Ribosomal RNA methyltransferase RrmJ/FtsJ (1);	0.000000	0.85682	D	0.000000	T	0.78253	0.4254	H	0.98786	4.33	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86489	0.1796	10	0.87932	D	0	1.8642	20.422	0.99049	0.0:1.0:0.0:0.0	.	53	Q9UI43	RRMJ2_HUMAN	Q	53	ENSP00000242257:R53Q;ENSP00000392343:R53Q	ENSP00000242257:R53Q	R	-	2	0	FTSJ2	2245719	1.000000	0.71417	0.811000	0.32455	0.397000	0.30659	7.320000	0.79064	2.832000	0.97577	0.655000	0.94253	CGG		0.622	FTSJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060187.1	NM_013393	
GCNT3	9245	hgsc.bcm.edu	37	15	59911235	59911235	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1026-01B-01W-0484-10	TCGA-23-1026-10A-01W-0484-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	Sanger_PCR_WGA			SOLID	fe3b760e-7209-4cac-9182-c71ff8328f56	dc66f42a-1ab4-45f5-8415-1fe5c5cb97eb	g.chr15:59911235A>T	ENST00000396065.1	+	3	1246	c.798A>T	c.(796-798)aaA>aaT	p.K266N	GCNT3_ENST00000560585.1_Missense_Mutation_p.K266N	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	266					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K266N(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCGCTGGAAATATCACTTTG	0.433																																																1	Substitution - Missense(1)	ovary(1)	15											164.0	173.0	170.0					15																	59911235		2190	4290	6480	57698527	SO:0001583	missense	9245			AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.798A>T	15.37:g.59911235A>T	ENSP00000379377:p.Lys266Asn		57698527		Missense_Mutation	SNP	ENST00000396065.1	37	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	A	9.322	1.058369	0.19987	.	.	ENSG00000140297	ENST00000396065	T	0.14893	2.47	5.95	3.43	0.39272	.	0.481778	0.23870	N	0.043744	T	0.20088	0.0483	M	0.72353	2.195	0.33914	D	0.640041	P	0.40360	0.714	B	0.39379	0.298	T	0.24261	-1.0165	10	0.51188	T	0.08	.	8.4289	0.32746	0.7066:0.0:0.2934:0.0	.	266	O95395	GCNT3_HUMAN	N	266	ENSP00000379377:K266N	ENSP00000379377:K266N	K	+	3	2	GCNT3	57698527	0.483000	0.25956	0.999000	0.59377	0.033000	0.12548	0.579000	0.23788	0.421000	0.25980	-0.250000	0.11733	AAA		0.433	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
