#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
PGD	5226	mdanderson.org	37	1	10479496	10479496	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:10479496G>T	ENST00000270776.8	+	12	1270	c.1232G>T	c.(1231-1233)aGc>aTc	p.S411I	PGD_ENST00000541529.1_Missense_Mutation_p.S389I|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000538557.1_Missense_Mutation_p.S398I	NM_002631.2	NP_002622.2	P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	411					carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616)			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)	Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867)	CGGGCAGTCAGCACTGGGGTC	0.557																																					p.S411I													.	.			0			c.G1232T												79.0	80.0	80.0					1																	10479496		2203	4300	6503	SO:0001583	missense	5226	exon12			CAGTCAGCACTGG	BC000368	CCDS113.1	1p36.22	2012-10-02			ENSG00000142657	ENSG00000142657	1.1.1.43		8891	protein-coding gene	gene with protein product		172200					Standard	NM_002631		Approved		uc001arc.3	P52209	OTTHUMG00000001905	ENST00000270776.8:c.1232G>T	1.37:g.10479496G>T	ENSP00000270776:p.Ser411Ile		29	0	0		37	0.08	3	NM_002631	376	0.00	0	A8K2Y9|B4DQJ8|Q9BWD8	Missense_Mutation	SNP	ENST00000270776.8	37	CCDS113.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.612844	0.87258	.	.	ENSG00000142657	ENST00000541529;ENST00000543846;ENST00000270776;ENST00000538557	T;T;T	0.43294	0.95;0.95;0.95	4.96	4.96	0.65561	6-phosphogluconate dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.037949	0.85682	D	0.000000	T	0.62624	0.2443	L	0.57130	1.785	0.80722	D	1	P;D;D	0.76494	0.935;0.999;0.999	P;D;D	0.80764	0.613;0.994;0.994	T	0.65656	-0.6115	10	0.72032	D	0.01	-28.2128	18.6104	0.91283	0.0:0.0:1.0:0.0	.	389;411;411	F5H7U0;A8K2Y9;P52209	.;.;6PGD_HUMAN	I	389;357;411;398	ENSP00000442285:S389I;ENSP00000270776:S411I;ENSP00000437822:S398I	ENSP00000270776:S411I	S	+	2	0	PGD	10402083	1.000000	0.71417	0.368000	0.25939	0.829000	0.46940	7.272000	0.78516	2.465000	0.83290	0.555000	0.69702	AGC			0.557	PGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005398.1		NM_002631	
IFNLR1	163702	mdanderson.org	37	1	24484350	24484350	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:24484350G>T	ENST00000327535.1	-	7	845	c.833C>A	c.(832-834)aCc>aAc	p.T278N	IFNLR1_ENST00000374421.3_Intron|IFNLR1_ENST00000327575.2_Missense_Mutation_p.N234K	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	278					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											GGGCTGAAAGGTTGCCACAGG	0.512																																					p.T278N													.	.			0			c.C833A												69.0	76.0	74.0					1																	24484350		2203	4300	6503	SO:0001583	missense	163702	exon7			TGAAAGGTTGCCA	AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.833C>A	1.37:g.24484350G>T	ENSP00000327824:p.Thr278Asn		33	0	0		47	0.06	3	NM_170743	5	0.00	0	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.97|11.97	1.799005|1.799005	0.31777|0.31777	.|.	.|.	ENSG00000185436|ENSG00000185436	ENST00000327575|ENST00000327535	.|.	.|.	.|.	5.38|5.38	3.48|3.48	0.39840|0.39840	.|.	.|0.592401	.|0.16314	.|N	.|0.219856	T|T	0.45377|0.45377	0.1339|0.1339	M|M	0.61703|0.61703	1.905|1.905	0.20975|0.20975	N|N	0.999811|0.999811	B|P	0.30068|0.48911	0.267|0.917	B|P	0.28139|0.49226	0.086|0.603	T|T	0.25117|0.25117	-1.0141|-1.0141	8|9	0.66056|0.33141	D|T	0.02|0.24	-12.2625|-12.2625	8.6106|8.6106	0.33800|0.33800	0.1859:0.0:0.814:0.0|0.1859:0.0:0.814:0.0	.|.	234|278	Q8IV66|Q8IU57	.|I28RA_HUMAN	K|N	234|278	.|.	ENSP00000328994:N234K|ENSP00000327824:T278N	N|T	-|-	3|2	2|0	IL28RA|IL28RA	24356937|24356937	0.975000|0.975000	0.34042|0.34042	0.869000|0.869000	0.34112|0.34112	0.018000|0.018000	0.09664|0.09664	2.029000|2.029000	0.41098|0.41098	1.414000|1.414000	0.47017|0.47017	0.655000|0.655000	0.94253|0.94253	AAC|ACC			0.512	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000008402.1		NM_170743	
SLC26A9	115019	mdanderson.org	37	1	205890930	205890930	+	Missense_Mutation	SNP	G	G	T	rs375835575		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:205890930G>T	ENST00000367135.3	-	17	1932	c.1819C>A	c.(1819-1821)Ccc>Acc	p.P607T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.P607T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.P607T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	607	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGGTCGGTGGGGGGCGCATTC	0.622																																					p.P607T													.	.			0			c.C1819A												76.0	63.0	68.0					1																	205890930		2203	4300	6503	SO:0001583	missense	115019	exon17			CGGTGGGGGGCGC	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.1819C>A	1.37:g.205890930G>T	ENSP00000356103:p.Pro607Thr		40	0	0		39	0.08	3	NM_134325	0		0	A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	G	1.923	-0.447971	0.04572	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.92545	-3.06;-3.01;-3.06	4.44	0.247	0.15521	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.337703	0.30347	N	0.009840	D	0.88768	0.6526	L	0.52364	1.645	0.09310	N	1	B;P	0.38048	0.338;0.616	B;P	0.45377	0.239;0.478	T	0.79137	-0.1927	10	0.28530	T	0.3	.	6.3572	0.21408	0.2318:0.1321:0.6361:0.0	.	607;607	Q7LBE3;B1AVM8	S26A9_HUMAN;.	T	607	ENSP00000341682:P607T;ENSP00000356103:P607T;ENSP00000356102:P607T	ENSP00000341682:P607T	P	-	1	0	SLC26A9	204157553	1.000000	0.71417	0.000000	0.03702	0.007000	0.05969	4.086000	0.57664	-0.046000	0.13446	-0.176000	0.13171	CCC			0.622	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087742.1		NM_052934	
EPHX1	2052	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	226019577	226019577	+	Missense_Mutation	SNP	T	T	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:226019577T>C	ENST00000366837.4	+	3	477	c.281T>C	c.(280-282)aTc>aCc	p.I94T	EPHX1_ENST00000467015.1_3'UTR|EPHX1_ENST00000272167.5_Missense_Mutation_p.I94T	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	94					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AAGAAAGTCATCTCCTACTGG	0.463																																					p.I94T													.	.			0			c.T281C												114.0	105.0	108.0					1																	226019577		2203	4300	6503	SO:0001583	missense	2052	exon3			AAGTCATCTCCTA	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.281T>C	1.37:g.226019577T>C	ENSP00000355802:p.Ile94Thr		106	0	0		125	0.06	7	NM_001136018	267	0.03	8	B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Missense_Mutation	SNP	ENST00000366837.4	37	CCDS1547.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.306787	0.40795	.	.	ENSG00000143819	ENST00000445856;ENST00000272167;ENST00000448202;ENST00000366837	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	5.71	3.42	0.39159	Epoxide hydrolase, N-terminal (1);	0.924044	0.09013	N	0.861290	T	0.04092	0.0114	N	0.16166	0.38	0.09310	N	1	B	0.12630	0.006	B	0.13407	0.009	T	0.40553	-0.9557	10	0.62326	D	0.03	-8.0959	9.7057	0.40214	0.0:0.1394:0.0:0.8606	.	94	P07099	HYEP_HUMAN	T	94	ENSP00000398491:I94T;ENSP00000272167:I94T;ENSP00000408469:I94T;ENSP00000355802:I94T	ENSP00000272167:I94T	I	+	2	0	EPHX1	224086200	0.979000	0.34478	0.312000	0.25196	0.900000	0.52787	6.075000	0.71261	0.999000	0.39023	-0.297000	0.09499	ATC			0.463	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000092064.1		NM_000120	
OBSCN	84033	mdanderson.org	37	1	228529235	228529235	+	Missense_Mutation	SNP	A	A	G			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:228529235A>G	ENST00000422127.1	+	74	17998	c.17954A>G	c.(17953-17955)cAg>cGg	p.Q5985R	OBSCN_ENST00000366707.4_Missense_Mutation_p.Q3619R|OBSCN_ENST00000366709.4_Missense_Mutation_p.Q3104R|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q6942R|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q5985R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5985	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACCTGCTGCAGGCACGGACA	0.637																																					p.Q6942R													.	.			0			c.A20825G												44.0	56.0	52.0					1																	228529235		2172	4264	6436	SO:0001583	missense	84033	exon85			TGCTGCAGGCACG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17954A>G	1.37:g.228529235A>G	ENSP00000409493:p.Gln5985Arg		29	0	0		33	0.09	3	NM_001271223	5	0.00	0	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	35	5.528592	0.96446	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.13307	2.6;2.6;2.6;2.6	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	T	0.36524	0.0970	M	0.79123	2.44	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.87578	0.996;0.998	T	0.21109	-1.0255	10	0.14656	T	0.56	.	15.5551	0.76187	1.0:0.0:0.0:0.0	.	5985;5985	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	5985;5985;3619;3104	ENSP00000284548:Q5985R;ENSP00000409493:Q5985R;ENSP00000355668:Q3619R;ENSP00000355670:Q3104R	ENSP00000284548:Q5985R	Q	+	2	0	OBSCN	226595858	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.273000	0.95719	2.086000	0.62901	0.460000	0.39030	CAG			0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding				NM_052843	
FMN2	56776	broad.mit.edu;mdanderson.org	37	1	240371502	240371502	+	Silent	SNP	C	C	T	rs200984130		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:240371502C>T	ENST00000319653.9	+	5	3620	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1130	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGGCATACCCCCTCCTCCCC	0.721																																					p.P1130P													.	FMN2	451		0			c.C3390T												7.0	8.0	8.0					1																	240371502		2106	4124	6230	SO:0001819	synonymous_variant	56776	exon5			CATACCCCCTCCT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3390C>T	1.37:g.240371502C>T			35	0	0		55	0.11	6	NM_020066	0		0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																					0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096217.2		XM_371352	
ZNF692	55657	mdanderson.org	37	1	249148143	249148143	+	Silent	SNP	C	C	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr1:249148143C>T	ENST00000306601.4	-	10	1312	c.1146G>A	c.(1144-1146)ctG>ctA	p.L382L	ZNF692_ENST00000366469.5_Silent_p.L381L|ZNF692_ENST00000366471.3_Silent_p.L337L|ZNF692_ENST00000451251.1_Silent_p.L387L|ZNF692_ENST00000468455.1_5'Flank|ZNF692_ENST00000427146.1_Silent_p.L337L	NM_017865.3	NP_060335.2	Q9BU19	ZN692_HUMAN	zinc finger protein 692	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACCACTGTGCAGCTTCATGT	0.532																																					p.L387L													.	.			0			c.G1161A												105.0	100.0	102.0					1																	249148143		2203	4300	6503	SO:0001819	synonymous_variant	55657	exon10			ACTGTGCAGCTTC	BC002948	CCDS31127.1, CCDS44348.1, CCDS53487.1	1q44	2013-01-08			ENSG00000171163	ENSG00000171163		"""Zinc fingers, C2H2-type"""	26049	protein-coding gene	gene with protein product						12477932	Standard	NM_001136036		Approved	FLJ20531, Zfp692	uc001ifc.2	Q9BU19	OTTHUMG00000040423	ENST00000306601.4:c.1146G>A	1.37:g.249148143C>T			57	0	0		68	0.06	4	NM_001136036	43	0.00	0	B4DXZ0|Q5SRA5|Q5SRA6|Q9HBC9|Q9NW93|Q9NWY6|Q9UF97	Silent	SNP	ENST00000306601.4	37	CCDS31127.1	.	.	.	.	.	.	.	.	.	.	C	8.452	0.853326	0.17106	.	.	ENSG00000171163	ENST00000476503	.	.	.	4.15	2.23	0.28157	.	.	.	.	.	T	0.53578	0.1805	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43702	-0.9375	4	.	.	.	-11.1048	5.6061	0.17381	0.0:0.6872:0.2018:0.1109	.	.	.	.	T	136	.	.	A	-	1	0	ZNF692	247114766	0.994000	0.37717	1.000000	0.80357	0.957000	0.61999	0.253000	0.18296	0.501000	0.28013	0.561000	0.74099	GCA			0.532	ZNF692-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000097298.1		NM_017865	
PIPSL	266971	broad.mit.edu	37	10	95718362	95718377	+	RNA	DEL	TTTCTTTCTTTCTTTC	TTTCTTTCTTTCTTTC	-	rs370138833|rs150958812|rs563705611|rs376264393		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	TTTCTTTCTTTCTTTC	TTTCTTTCTTTCTTTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr10:95718362_95718377delTTTCTTTCTTTCTTTC	ENST00000480546.1	-	0	2920_2935					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										tttcttttcttttctttctttctttctttctttctt	0.329																																					.													.	.			0			.																																											0	.			TTTTCTTTTCTTT	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718362_95718377delTTTCTTTCTTTCTTTC			6	0	0		18	0.50	9	.	0		0	Q6NUK8	RNA	DEL	ENST00000480546.1	37																																																																																						0.329	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene		OTTHUMT00000351483.1		NR_002319	
OR51B4	79339	hgsc.bcm.edu	37	11	5322649	5322649	+	Silent	SNP	G	G	A	rs377539411		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:5322649G>A	ENST00000380224.1	-	1	577	c.528C>T	c.(526-528)tgC>tgT	p.C176C	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	176					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTGATGGAGGCAAAATGTGT	0.403																																					p.C176C													.	.			0			c.C528T							G		1,4401	2.1+/-5.4	0,1,2200	110.0	100.0	103.0		528	1.6	1.0	11		103	0,8594		0,0,4297	no	coding-synonymous	OR51B4	NM_033179.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		176/311	5322649	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	79339	exon1			ATGGAGGCAAAAT	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.528C>T	11.37:g.5322649G>A			105	0	0		94	0.04	4	NM_033179	0		0	A7MAV5|Q6NTD7	Silent	SNP	ENST00000380224.1	37	CCDS7757.1																																																																																					0.403	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142956.2		NM_033179	
OR5M3	219482	ucsc.edu	37	11	56237578	56237578	+	Silent	SNP	A	A	G	rs61902881		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:56237578A>G	ENST00000312240.2	-	1	436	c.396T>C	c.(394-396)agT>agC	p.S132S		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	132						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TTGACATTTTACTGCCATAAA	0.403																																					p.S132S													.	OR5M3	103		0			c.T396C							A		1,4401		0,1,2200	95.0	89.0	91.0		396	-1.1	0.0	11	dbSNP_129	91	18,8548		0,18,4265	no	coding-synonymous	OR5M3	NM_001004742.2		0,19,6465	GG,GA,AA		0.2101,0.0227,0.1465		132/308	56237578	19,12949	2201	4283	6484	SO:0001819	synonymous_variant	219482	exon1			CATTTTACTGCCA	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.396T>C	11.37:g.56237578A>G			57	0.0350877193	2		44	0.14	6	NM_001004742	0		0	B2RNM7|Q6IEW4|Q96RC0	Silent	SNP	ENST00000312240.2	37	CCDS31532.1																																																																																					0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391639.1		NM_001004742	
WDR74	54663	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	62601760	62601760	+	Missense_Mutation	SNP	C	C	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:62601760C>A	ENST00000525239.1	-	9	1300	c.763G>T	c.(763-765)Gac>Tac	p.D255Y	WDR74_ENST00000525752.1_Missense_Mutation_p.D198Y|RP11-727F15.9_ENST00000535817.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.D255Y|STX5_ENST00000294179.3_5'Flank|WDR74_ENST00000529106.1_Missense_Mutation_p.D255Y|RP11-727F15.9_ENST00000535867.1_RNA|WDR74_ENST00000540620.1_5'Flank|WDR74_ENST00000311713.7_Missense_Mutation_p.D255Y|STX5_ENST00000394690.1_5'Flank|STX5_ENST00000377897.4_5'Flank|STX5_ENST00000541317.1_5'Flank			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	255					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						TGCCGAAGGTCAATTTCTGCC	0.557																																					p.D255Y													.	WDR74	36		0			c.G763T												143.0	144.0	144.0					11																	62601760		1979	4167	6146	SO:0001583	missense	54663	exon9			GAAGGTCAATTTC		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.763G>T	11.37:g.62601760C>A	ENSP00000432119:p.Asp255Tyr		105	0	0		107	0.07	7	NM_018093	190	0.23	44	A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	CCDS44630.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898462	0.33535	.	.	ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.26	2.37	0.29283	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.051528	0.85682	D	0.000000	T	0.62901	0.2466	M	0.89601	3.045	0.47862	D	0.99953	D;D;D	0.71674	0.997;0.998;0.998	P;P;D	0.65773	0.903;0.903;0.938	T	0.62539	-0.6833	10	0.87932	D	0	-12.0281	5.7034	0.17895	0.0:0.693:0.1991:0.1079	.	198;255;255	E9PS41;Q6RFH5;Q6RFH5-2	.;WDR74_HUMAN;.	Y	255;255;255;255;198	ENSP00000308931:D255Y;ENSP00000435726:D255Y;ENSP00000432119:D255Y;ENSP00000278856:D255Y;ENSP00000432113:D198Y	ENSP00000278856:D255Y	D	-	1	0	WDR74	62358336	1.000000	0.71417	0.998000	0.56505	0.186000	0.23388	3.594000	0.54008	0.427000	0.26145	-0.136000	0.14681	GAC			0.557	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395678.1		NM_018093	
RELA	5970	mdanderson.org	37	11	65425788	65425788	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:65425788G>T	ENST00000406246.3	-	8	1108	c.847C>A	c.(847-849)Ccc>Acc	p.P283T	RELA_ENST00000525693.1_Missense_Mutation_p.P283T|RELA_ENST00000308639.9_Missense_Mutation_p.P280T	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	283	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						AATTCCATGGGCTCACTGAGC	0.632																																					p.P283T													.	.			0			c.C847A												31.0	29.0	30.0					11																	65425788		2201	4297	6498	SO:0001583	missense	5970	exon8			CCATGGGCTCACT	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.847C>A	11.37:g.65425788G>T	ENSP00000384273:p.Pro283Thr		64	0	0		39	0.08	3	NM_001243985	146	0.00	0	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.283346	0.59867	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000545816;ENST00000532999	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.11	5.11	0.69529	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.059445	0.64402	D	0.000002	T	0.78991	0.4371	M	0.88906	2.99	0.49915	D	0.999836	D;D;D;D;D;D	0.71674	0.998;0.991;0.991;0.985;0.998;0.998	D;P;P;P;P;D	0.67725	0.953;0.887;0.851;0.775;0.867;0.931	D	0.83641	0.0150	10	0.87932	D	0	-20.3056	16.043	0.80698	0.0:0.0:1.0:0.0	.	273;270;280;283;294;283	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	T	283;283;280;294;294	ENSP00000384273:P283T;ENSP00000432537:P283T;ENSP00000311508:P280T;ENSP00000433526:P294T	ENSP00000311508:P280T	P	-	1	0	RELA	65182364	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.275000	0.65575	2.397000	0.81536	0.555000	0.69702	CCC			0.632	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000390457.2		NM_021975	
UVRAG	7405	broad.mit.edu	37	11	75852423	75852423	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr11:75852423G>T	ENST00000356136.3	+	15	2307	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	UVRAG_ENST00000528420.1_Missense_Mutation_p.S588I|UVRAG_ENST00000533454.1_Missense_Mutation_p.S317I|UVRAG_ENST00000532130.1_Missense_Mutation_p.S317I|UVRAG_ENST00000538870.1_Missense_Mutation_p.S245I|UVRAG_ENST00000531818.1_Missense_Mutation_p.S317I|UVRAG_ENST00000539288.1_Missense_Mutation_p.S317I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	689					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AACGTATCCAGCTTCCGCCGG	0.507																																					p.S689I													.	UVRAG	69		0			c.G2066T												59.0	61.0	60.0					11																	75852423		2200	4292	6492	SO:0001583	missense	7405	exon15			TATCCAGCTTCCG	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.2066G>T	11.37:g.75852423G>T	ENSP00000348455:p.Ser689Ile		24	0	0		48	0.06	3	NM_003369	58	0.00	0	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698561	0.68386	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000533454;ENST00000531818;ENST00000532130;ENST00000539288;ENST00000538870	T	0.60171	0.21	5.99	5.08	0.68730	.	0.037249	0.85682	D	0.000000	T	0.63803	0.2542	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.59767	0.985;0.986	P;P	0.57009	0.811;0.669	T	0.68239	-0.5461	10	0.87932	D	0	-14.9028	16.5147	0.84296	0.0:0.1304:0.8696:0.0	.	245;689	B7Z6A0;Q9P2Y5	.;UVRAG_HUMAN	I	689;588;317;317;317;317;245	ENSP00000348455:S689I	ENSP00000348455:S689I	S	+	2	0	UVRAG	75530071	1.000000	0.71417	1.000000	0.80357	0.437000	0.31866	6.303000	0.72794	1.532000	0.49169	0.655000	0.94253	AGC			0.507	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383430.1		NM_003369	
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	T	rs121913530		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr12:25398285C>T	ENST00000256078.4	-	2	97	c.34G>A	c.(34-36)Ggt>Agt	p.G12S	KRAS_ENST00000311936.3_Missense_Mutation_p.G12S|KRAS_ENST00000557334.1_Missense_Mutation_p.G12S|KRAS_ENST00000556131.1_Missense_Mutation_p.G12S	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12S	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS_ENST00000256078,NS,adenocarcinoma,+1,25136	KRAS_ENST00000256078	1	25136	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34A	GRCh37	CM076251	KRAS	M	rs121913530							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	CGCCACCAGCTCC	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>A	12.37:g.25398285C>T	ENSP00000256078:p.Gly12Ser		143	0	0		188	0.12	23	NM_004985	25	0.12	3	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441396	0.96187	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.78559	0.4302	L	0.28344	0.845	0.80722	D	1	P;P	0.39665	0.557;0.682	P;P	0.50570	0.525;0.644	T	0.80254	-0.1459	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	S	12	ENSP00000308495:G12S;ENSP00000452512:G12S;ENSP00000256078:G12S;ENSP00000451856:G12S	ENSP00000256078:G12S	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT			0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360	
LTA4H	4048	hgsc.bcm.edu	37	12	96400148	96400148	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr12:96400148G>T	ENST00000228740.2	-	16	1615	c.1474C>A	c.(1474-1476)Ctg>Atg	p.L492M	RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000413268.2_Missense_Mutation_p.L468M|LTA4H_ENST00000552789.1_Missense_Mutation_p.L468M	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	492					arachidonic acid metabolic process (GO:0019369)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|peptide catabolic process (GO:0043171)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|leukotriene-A4 hydrolase activity (GO:0004463)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12					Captopril(DB01197)	AGATCCTTCAGGTCTGTGGCA	0.323																																					p.L492M													.	.			0			c.C1474A												102.0	101.0	101.0					12																	96400148		2203	4300	6503	SO:0001583	missense	4048	exon16			CCTTCAGGTCTGT	BC032528	CCDS9059.1, CCDS58266.1, CCDS58267.1	12q22	2005-10-06				ENSG00000111144	3.3.2.6		6710	protein-coding gene	gene with protein product		151570				7628486	Standard	NM_000895		Approved		uc001ten.2	P09960	OTTHUMG00000170355	ENST00000228740.2:c.1474C>A	12.37:g.96400148G>T	ENSP00000228740:p.Leu492Met		45	0	0		87	0.05	4	NM_000895	247	0.00	0	B4DNQ9|F8VV40|Q6IAT6|Q9UCT7	Missense_Mutation	SNP	ENST00000228740.2	37	CCDS9059.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370729	0.61624	.	.	ENSG00000111144	ENST00000228740;ENST00000552789;ENST00000413268	T;T;T	0.48522	0.81;0.81;0.81	5.74	2.8	0.32819	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.221017	0.38548	N	0.001648	T	0.44644	0.1303	L	0.43152	1.355	0.40186	D	0.977354	B;P;P	0.37233	0.393;0.588;0.461	B;P;B	0.46049	0.127;0.502;0.259	T	0.46555	-0.9183	10	0.59425	D	0.04	-10.4144	7.1827	0.25782	0.1517:0.0:0.7086:0.1397	.	468;468;492	P09960-3;F8VV40;P09960	.;.;LKHA4_HUMAN	M	492;468;468	ENSP00000228740:L492M;ENSP00000449958:L468M;ENSP00000395051:L468M	ENSP00000228740:L492M	L	-	1	2	LTA4H	94924279	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.821000	0.27338	1.437000	0.47472	0.561000	0.74099	CTG			0.323	LTA4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408655.1		NM_000895	
SMAD9	4093	mdanderson.org	37	13	37453517	37453517	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr13:37453517G>T	ENST00000399275.2	-	1	449	c.310C>A	c.(310-312)Cac>Aac	p.H104N	SMAD9_ENST00000379826.4_Missense_Mutation_p.H104N|SMAD9_ENST00000483941.1_5'Flank|SMAD9_ENST00000350148.5_Missense_Mutation_p.H104N			O15198	SMAD9_HUMAN	SMAD family member 9	104	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGCTCGTGGTGGGACTGCAGA	0.622																																					p.H104N													.	.			0			c.C310A												32.0	35.0	34.0					13																	37453517		2203	4300	6503	SO:0001583	missense	4093	exon2			CGTGGTGGGACTG		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.310C>A	13.37:g.37453517G>T	ENSP00000382216:p.His104Asn		36	0	0		41	0.07	3	NM_005905	3	0.00	0	A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945030	0.73672	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.71461	-0.57;-0.57;-0.57	5.53	5.53	0.82687	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	T	0.81384	0.4811	M	0.91561	3.22	0.80722	D	1	B;B	0.30563	0.008;0.285	B;B	0.37451	0.114;0.25	T	0.83210	-0.0074	10	0.87932	D	0	.	18.4517	0.90705	0.0:0.0:1.0:0.0	.	104;104	O15198-2;O15198	.;SMAD9_HUMAN	N	104	ENSP00000382216:H104N;ENSP00000239885:H104N;ENSP00000369154:H104N	ENSP00000239885:H104N	H	-	1	0	SMAD9	36351517	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.796000	0.99103	2.599000	0.87857	0.563000	0.77884	CAC			0.622	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000044525.2		NM_005905	
RP11-589M4.3	0	broad.mit.edu	37	14	53265373	53265373	+	lincRNA	DEL	T	T	-			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr14:53265373delT	ENST00000554548.1	-	0	110																											TCTGTTGTAATTTTTTTTTTT	0.373																																					.													.	.			0			.																																											0	.			TTGTAATTTTTTT																													14.37:g.53265373delT			4	0	0		6	0.33	2	.	0		0		RNA	DEL	ENST00000554548.1	37																																																																																						0.373	RP11-589M4.3-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000411943.1			
IGHV3-7	28452	bcgsc.ca	37	14	106518415	106518415	+	RNA	SNP	C	C	A	rs188349361	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr14:106518415C>A	ENST00000390598.2	-	0	414									immunoglobulin heavy variable 3-7																		CACAGTAATACACAGCCGTGT	0.567													.|||	68	0.0135783	0.025	0.0187	5008	,	,		12199	0.004		0.008	False		,,,				2504	0.0102				.													.	.			0			.												140.0	130.0	133.0					14																	106518415		1852	4062	5914			28452	.			GTAATACACAGCC	M99649		14q32.33	2012-02-08			ENSG00000211938	ENSG00000211938		"""Immunoglobulins / IGH locus"""	5620	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152271		14.37:g.106518415C>A			164	0.0182926829	3		227	0.11	26	.	2901	0.14	410		RNA	SNP	ENST00000390598.2	37																																																																																						0.567	IGHV3-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene		OTTHUMT00000325659.1		NG_001019	
SLTM	79811	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	15	59192108	59192108	+	Silent	SNP	T	T	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:59192108T>C	ENST00000380516.2	-	7	705	c.618A>G	c.(616-618)caA>caG	p.Q206Q	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	206	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TAGATACTTCTTGTGTACCAT	0.393																																					p.Q206Q													.	.			0			c.A618G												86.0	80.0	82.0					15																	59192108		2192	4292	6484	SO:0001819	synonymous_variant	79811	exon7			TACTTCTTGTGTA	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.618A>G	15.37:g.59192108T>C			52	0	0		78	0.08	6	NM_024755	41	0.02	1	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000380516.2	37	CCDS10168.2																																																																																					0.393	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157124.1		NM_024755	
HCN4	10021	mdanderson.org	37	15	73660493	73660493	+	Missense_Mutation	SNP	C	C	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:73660493C>T	ENST00000261917.3	-	1	1112	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	40					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGGTCTTGGCGGCCCCCGGC	0.751																																					p.R40H													.	.			0			c.G119A												2.0	3.0	3.0					15																	73660493		1563	3391	4954	SO:0001583	missense	10021	exon1			TCTTGGCGGCCCC	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.119G>A	15.37:g.73660493C>T	ENSP00000261917:p.Arg40His		22	0	0		37	0.08	3	NM_005477	1	0.00	0	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161596	0.38119	.	.	ENSG00000138622	ENST00000261917	D	0.97378	-4.36	2.98	2.01	0.26516	.	.	.	.	.	D	0.89543	0.6745	N	0.14661	0.345	0.25772	N	0.98483	D	0.60160	0.987	B	0.35413	0.202	T	0.83341	-0.0008	9	0.27082	T	0.32	.	7.8835	0.29635	0.246:0.754:0.0:0.0	.	40	Q9Y3Q4	HCN4_HUMAN	H	40	ENSP00000261917:R40H	ENSP00000261917:R40H	R	-	2	0	HCN4	71447546	0.988000	0.35896	0.800000	0.32199	0.706000	0.40770	0.326000	0.19646	0.497000	0.27926	0.298000	0.19748	CGC			0.751	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268900.2		NM_005477	
SLCO3A1	28232	hgsc.bcm.edu	37	15	92694221	92694221	+	Missense_Mutation	SNP	T	T	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr15:92694221T>C	ENST00000318445.6	+	9	1944	c.1730T>C	c.(1729-1731)cTt>cCt	p.L577P	RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.L577P	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	577					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	TTGGGAGTTCTTTTTCTCCTC	0.363																																					p.L577P													.	.			0			c.T1730C												230.0	212.0	218.0					15																	92694221		2198	4298	6496	SO:0001583	missense	28232	exon9			GAGTTCTTTTTCT	AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1730T>C	15.37:g.92694221T>C	ENSP00000320634:p.Leu577Pro		45	0	0		92	0.04	4	NM_013272	42	0.02	1	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Missense_Mutation	SNP	ENST00000318445.6	37	CCDS10371.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.375251	0.82682	.	.	ENSG00000176463	ENST00000318445;ENST00000424469;ENST00000555549	D;D	0.81908	-1.55;-1.55	5.8	5.8	0.92144	Major facilitator superfamily domain, general substrate transporter (1);	0.062767	0.64402	D	0.000007	D	0.90031	0.6887	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.91635	0.935;0.999;0.968	D	0.89966	0.4090	10	0.48119	T	0.1	.	16.1506	0.81618	0.0:0.0:0.0:1.0	.	519;577;577	Q9UIG8-3;Q9UIG8-2;Q9UIG8	.;.;SO3A1_HUMAN	P	577;577;296	ENSP00000320634:L577P;ENSP00000387846:L577P	ENSP00000320634:L577P	L	+	2	0	SLCO3A1	90495225	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	7.088000	0.76901	2.206000	0.71126	0.528000	0.53228	CTT			0.363	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313529.1		NM_013272	
FLYWCH1	84256	mdanderson.org	37	16	2987340	2987340	+	Missense_Mutation	SNP	C	C	T	rs370316946		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr16:2987340C>T	ENST00000253928.9	+	7	2137	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	FLYWCH1_ENST00000399667.2_Missense_Mutation_p.R627W|FLYWCH1_ENST00000416288.2_Missense_Mutation_p.R577W|FLYWCH1_ENST00000570752.1_3'UTR|LA16c-321D4.2_ENST00000573260.1_RNA			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	578						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|lung(3)	4						GGAGGCCCTGCGGCAGCGGGA	0.736																																					p.R577W													.	.			0			c.C1729T							C	TRP/ARG,TRP/ARG	0,3834		0,0,1917	9.0	11.0	10.0		1729,1729	-0.0	1.0	16		10	2,8116		0,2,4057	no	missense,missense	FLYWCH1	NM_020912.1,NM_032296.2	101,101	0,2,5974	TT,TC,CC		0.0246,0.0,0.0167	probably-damaging,probably-damaging	577/704,577/716	2987340	2,11950	1917	4059	5976	SO:0001583	missense	84256	exon7			GCCCTGCGGCAGC	AL136585	CCDS45390.1	16p13.3	2013-01-10	2007-06-21	2007-06-21	ENSG00000059122	ENSG00000059122		"""Zinc fingers"""	25404	protein-coding gene	gene with protein product						11230166, 10997877	Standard	XM_006720959		Approved	DKFZp761A132	uc002csc.3	Q4VC44		ENST00000253928.9:c.1732C>T	16.37:g.2987340C>T	ENSP00000253928:p.Arg578Trp		17	0	0		13	0.15	2	NM_020912	22	0.00	0	D3DUA1|Q6ZSQ1|Q8WV62|Q9BQG6|Q9BUS5|Q9HCM0	Missense_Mutation	SNP	ENST00000253928.9	37		.	.	.	.	.	.	.	.	.	.	C	14.27	2.486505	0.44249	0.0	2.46E-4	ENSG00000059122	ENST00000399667;ENST00000253928;ENST00000416288;ENST00000344592	.	.	.	3.25	-0.0387	0.13878	.	.	.	.	.	T	0.57562	0.2062	L	0.47190	1.495	0.29272	N	0.870629	D;D;D	0.89917	0.999;0.999;1.0	P;P;D	0.97110	0.814;0.877;1.0	T	0.54384	-0.8302	8	0.87932	D	0	.	9.4346	0.38630	0.4256:0.5744:0.0:0.0	.	627;578;577	Q4VC44-3;Q4VC44;Q4VC44-2	.;FWCH1_HUMAN;.	W	627;578;577;190	.	ENSP00000253928:R578W	R	+	1	2	FLYWCH1	2927341	0.993000	0.37304	0.997000	0.53966	0.433000	0.31745	0.072000	0.14617	0.015000	0.14971	-0.309000	0.09137	CGG			0.736	FLYWCH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000436479.1		NM_032296	
IL34	146433	mdanderson.org	37	16	70690989	70690989	+	Nonsense_Mutation	SNP	G	G	T	rs8046424	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr16:70690989G>T	ENST00000288098.2	+	4	750	c.367G>T	c.(367-369)Gag>Tag	p.E123*	IL34_ENST00000429149.2_Nonsense_Mutation_p.E123*|IL34_ENST00000566361.1_Nonsense_Mutation_p.E98*	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	123			E -> Q (in dbSNP:rs8046424). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:18467591}.		inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GCAGGAGGTGGAGACGCTGCT	0.607																																					p.E123X													.	.			0			c.G367T												115.0	84.0	94.0					16																	70690989		2198	4300	6498	SO:0001587	stop_gained	146433	exon5			GAGGTGGAGACGC	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.367G>T	16.37:g.70690989G>T	ENSP00000288098:p.Glu123*		57	0	0		56	0.05	3	NM_001172772	45	0.00	0	B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Nonsense_Mutation	SNP	ENST00000288098.2	37	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034638	0.75617	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	.	.	.	5.18	3.04	0.35103	.	0.691102	0.13631	N	0.373759	.	.	.	.	.	.	0.09310	P	0.9999999999999347	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	-10.8047	2.4406	0.04493	0.1665:0.5233:0.1616:0.1486	.	.	.	.	X	123	.	ENSP00000288098:E123X	E	+	1	0	IL34	69248490	0.020000	0.18652	0.115000	0.21578	0.440000	0.31957	1.221000	0.32503	1.197000	0.43143	-0.322000	0.08575	GAG			0.607	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268971.3		NM_152456	
RP11-434D2.11	0	broad.mit.edu	37	17	20459719	20459719	+	RNA	DEL	A	A	-	rs57794427|rs149462269		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr17:20459719delA	ENST00000579603.1	-	0	63																											atatatatatatatatatata	0.353																																					.													.	.			0			.																																											0	.			ATATATATATATA																													17.37:g.20459719delA			105	0.0380952381	4		45	0.24	11	.	0		0		RNA	DEL	ENST00000579603.1	37																																																																																						0.353	RP11-434D2.11-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000448286.1			
RARA	5914	broad.mit.edu	37	17	38510615	38510615	+	Missense_Mutation	SNP	T	T	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr17:38510615T>C	ENST00000254066.5	+	7	1324	c.869T>C	c.(868-870)cTg>cCg	p.L290P	RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394086.3_Missense_Mutation_p.L306P|RARA_ENST00000425707.3_Missense_Mutation_p.L193P|RARA_ENST00000394089.2_Missense_Mutation_p.L290P|RARA_ENST00000394081.3_Missense_Mutation_p.L285P	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	290	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCGGACGGGCTGACCCTGAAC	0.632			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL																																p.L290P				Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	.	RARA	52		0			c.T869C												123.0	97.0	106.0					17																	38510615		2203	4300	6503	SO:0001583	missense	0	exon7			ACGGGCTGACCCT	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.869T>C	17.37:g.38510615T>C	ENSP00000254066:p.Leu290Pro		104	0	0		136	0.04	5	NM_000964	94	0.04	4	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	ENST00000254066.5	37	CCDS11366.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882080	0.51908	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	T;D;T;T;T	0.96830	0.98;-4.14;0.98;0.98;0.98	4.93	4.93	0.64822	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.64402	D	0.000003	D	0.97451	0.9166	M	0.67569	2.06	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.997	D;D;D	0.75020	0.955;0.985;0.95	D	0.98081	1.0404	10	0.87932	D	0	.	13.6851	0.62511	0.0:0.0:0.0:1.0	.	193;285;290	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	P	290;193;290;306;285;283;177	ENSP00000254066:L290P;ENSP00000389993:L193P;ENSP00000377649:L290P;ENSP00000377648:L306P;ENSP00000377643:L285P	ENSP00000254066:L290P	L	+	2	0	RARA	35764141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.859000	0.86982	2.055000	0.61198	0.482000	0.46254	CTG			0.632	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257136.2	rescued with RNA-seq		
LOC101927755	101927755	bcgsc.ca	37	17	58066651	58066651	+	lincRNA	SNP	C	C	T	rs376360537		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr17:58066651C>T	ENST00000586209.1	+	0	158																											ACTGGTAAAGCTGTTTAAGAG	0.333																																					.													.	.			0			.																																											653645	.			GTAAAGCTGTTTA																													17.37:g.58066651C>T			255	0.031372549	8		327	0.09	28	.	0		0		RNA	SNP	ENST00000586209.1	37																																																																																						0.333	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000449162.1			
NOTCH3	4854	bcgsc.ca	37	19	15291593	15291593	+	Missense_Mutation	SNP	C	C	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:15291593C>T	ENST00000263388.2	-	19	3116	c.3041G>A	c.(3040-3042)cGc>cAc	p.R1014H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1014	EGF-like 26. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTGGACGCAGCGACCCCCGTT	0.637																																					p.R1014H													.	NOTCH3	340		0			c.G3041A												38.0	34.0	35.0					19																	15291593		2200	4300	6500	SO:0001583	missense	4854	exon19			ACGCAGCGACCCC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3041G>A	19.37:g.15291593C>T	ENSP00000263388:p.Arg1014His		46	0	0		43	0.09	4	NM_000435	31	0.00	0	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026277	0.35701	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.87809	-2.3	5.13	0.384	0.16244	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32719	N	0.005726	T	0.76702	0.4024	L	0.35288	1.05	0.42278	D	0.992084	B;B	0.25955	0.08;0.138	B;B	0.28139	0.043;0.086	T	0.64179	-0.6468	10	0.37606	T	0.19	.	5.6977	0.17865	0.0:0.567:0.1304:0.3026	.	965;1014	Q59FL3;Q9UM47	.;NOTC3_HUMAN	H	1014;964	ENSP00000263388:R1014H	ENSP00000263388:R1014H	R	-	2	0	NOTCH3	15152593	0.000000	0.05858	0.997000	0.53966	0.281000	0.26958	-0.728000	0.04925	0.187000	0.20147	-0.253000	0.11424	CGC			0.637	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465714.1		NM_000435	
CEACAM7	1087	bcgsc.ca	37	19	42190800	42190800	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:42190800G>T	ENST00000006724.3	-	2	618	c.417C>A	c.(415-417)ttC>ttA	p.F139L	CEACAM7_ENST00000602225.1_Missense_Mutation_p.F139L|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.F139L|CEACAM7_ENST00000401731.1_Missense_Mutation_p.F139L	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	139	Ig-like V-type.					anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		AGAATACGTAGAATTGTCTGG	0.483																																					p.F139L													.	CEACAM7	33		0			c.C417A												148.0	136.0	140.0					19																	42190800		2203	4300	6503	SO:0001583	missense	1087	exon2			TACGTAGAATTGT	X98311	CCDS12583.1	19q13.2	2013-01-29			ENSG00000007306	ENSG00000007306		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1819	protein-coding gene	gene with protein product	"""carcinoembryonic antigen gene family member 2"""			CGM2		7806520, 9135022	Standard	XM_005278379		Approved	CEA	uc002ori.1	Q14002	OTTHUMG00000151063	ENST00000006724.3:c.417C>A	19.37:g.42190800G>T	ENSP00000006724:p.Phe139Leu		109	0.0091743119	1		167	0.04	7	NM_006890	0		0	A8K848|O15148|O15149|Q0VAC1|Q13983|Q9UPJ2	Missense_Mutation	SNP	ENST00000006724.3	37	CCDS12583.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.344726	0.01277	.	.	ENSG00000007306	ENST00000006724;ENST00000412062;ENST00000401731;ENST00000338196	T;T;T	0.00649	5.98;5.98;5.98	1.68	0.605	0.17553	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.00608	0.0020	L	0.28649	0.875	0.09310	N	1	B;B	0.30114	0.269;0.0	B;B	0.34452	0.183;0.017	T	0.45659	-0.9246	9	0.23302	T	0.38	.	3.4249	0.07406	0.2823:0.0:0.7177:0.0	.	139;139	Q14002-2;Q14002	.;CEAM7_HUMAN	L	139;118;139;139	ENSP00000006724:F139L;ENSP00000385932:F139L;ENSP00000343286:F139L	ENSP00000006724:F139L	F	-	3	2	CEACAM7	46882640	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	0.167000	0.16602	0.235000	0.21160	0.313000	0.20887	TTC			0.483	CEACAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321145.1		NM_006890	
ZNF526	116115	ucsc.edu	37	19	42729230	42729230	+	Silent	SNP	A	A	G			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:42729230A>G	ENST00000301215.3	+	3	900	c.675A>G	c.(673-675)aaA>aaG	p.K225K		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	225	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CCCTAGAGAAAGAGGAGCGCA	0.557																																					p.K225K													.	ZNF526	51		0			c.A675G												100.0	78.0	86.0					19																	42729230		2203	4300	6503	SO:0001819	synonymous_variant	116115	exon3			AGAGAAAGAGGAG	AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.675A>G	19.37:g.42729230A>G			87	0	0		94	0.01	1	NM_133444	40	0.13	5	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	ENST00000301215.3	37	CCDS12598.1																																																																																					0.557	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463681.2		XM_057401	
ZNF28	7576	ucsc.edu	37	19	53304611	53304611	+	Missense_Mutation	SNP	G	G	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:53304611G>C	ENST00000457749.2	-	4	606	c.487C>G	c.(487-489)Caa>Gaa	p.Q163E	ZNF28_ENST00000360272.4_Missense_Mutation_p.Q110E|ZNF28_ENST00000438150.2_Missense_Mutation_p.Q110E|ZNF28_ENST00000414252.2_Missense_Mutation_p.Q110E	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTCTCAACTTGATTACCAATT	0.373																																					p.Q163E													.	ZNF28	191		0			c.C487G												158.0	163.0	162.0					19																	53304611		2203	4300	6503	SO:0001583	missense	7576	exon4			CAACTTGATTACC	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.487C>G	19.37:g.53304611G>C	ENSP00000397693:p.Gln163Glu		69	0.0289855072	2		107	0.05	5	NM_006969	14	0.29	4	A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	3.225	-0.158708	0.06544	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252;ENST00000391783	T;T;T;T;T	0.08720	3.06;3.21;3.06;3.06;3.14	1.81	0.625	0.17665	.	.	.	.	.	T	0.07369	0.0186	N	0.16903	0.455	0.09310	N	1	P	0.40332	0.713	P	0.51806	0.68	T	0.15350	-1.0440	9	0.02654	T	1	.	7.6316	0.28243	0.0:0.2679:0.732:0.0	.	163	P17035	ZNF28_HUMAN	E	110;163;110;110;110	ENSP00000412143:Q110E;ENSP00000397693:Q163E;ENSP00000353410:Q110E;ENSP00000444965:Q110E;ENSP00000375661:Q110E	ENSP00000353410:Q110E	Q	-	1	0	ZNF28	57996423	0.000000	0.05858	0.005000	0.12908	0.064000	0.16182	-0.354000	0.07681	0.070000	0.16634	0.298000	0.19748	CAA			0.373	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336038.2		NM_006969	
ZNF264	9422	mdanderson.org	37	19	57723163	57723163	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr19:57723163G>T	ENST00000263095.6	+	4	1112	c.698G>T	c.(697-699)tGc>tTc	p.C233F	ZNF264_ENST00000536056.1_Missense_Mutation_p.C233F	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCCTATGAATGCACAGAATGT	0.418																																					p.C233F													.	.			0			c.G698T												95.0	95.0	95.0					19																	57723163		2203	4300	6503	SO:0001583	missense	9422	exon4			ATGAATGCACAGA	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.698G>T	19.37:g.57723163G>T	ENSP00000263095:p.Cys233Phe		56	0	0		54	0.06	3	NM_003417	9	0.00	0	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442783	0.63067	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	D;D	0.85088	-1.94;-1.94	2.35	2.35	0.29111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93851	0.8033	H	0.95645	3.7	0.41927	D	0.990549	D	0.89917	1.0	D	0.91635	0.999	D	0.95033	0.8171	9	0.87932	D	0	.	12.4506	0.55675	0.0:0.0:1.0:0.0	.	233	O43296	ZN264_HUMAN	F	233	ENSP00000263095:C233F;ENSP00000440376:C233F	ENSP00000263095:C233F	C	+	2	0	ZNF264	62414975	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.957000	0.76019	1.644000	0.50603	0.491000	0.48974	TGC			0.418	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465080.1			
EML6	400954	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	2	55138179	55138179	+	Splice_Site	SNP	G	G	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:55138179G>A	ENST00000356458.6	+	24	4018	c.3498G>A	c.(3496-3498)gaG>gaA	p.E1166E		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1166						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						GACCTTCAGAGGTAATAATCA	0.313																																					p.E1166E													.	.			0			c.G3498A												97.0	86.0	90.0					2																	55138179		692	1591	2283	SO:0001630	splice_region_variant	400954	exon24			TTCAGAGGTAATA		CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3498+1G>A	2.37:g.55138179G>A			252	0	0		315	0.06	19	NM_001039753	0		0	A8MUB5|B6ZDG7	Silent	SNP	ENST00000356458.6	37	CCDS46286.1																																																																																					0.313	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000324997.3		XM_001725002	Silent
AC018804.7	0	bcgsc.ca	37	2	130987233	130987233	+	RNA	SNP	C	C	T	rs72863885	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:130987233C>T	ENST00000450578.1	+	0	0																											TAAACTTCAGCGACTCGGACA	0.567																																					.													.	.			0			.																																											0	.			CTTCAGCGACTCG																													2.37:g.130987233C>T			30	0.0333333333	1		43	0.40	17	.	2	0.00	0		RNA	SNP	ENST00000450578.1	37																																																																																						0.567	AC018804.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000332326.2			
AC018804.7	0	bcgsc.ca	37	2	130987239	130987239	+	RNA	SNP	G	G	A	rs72863888		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:130987239G>A	ENST00000450578.1	+	0	0																											TCAGCGACTCGGACAGCTCTG	0.567																																					.													.	.			0			.																																											0	.			CGACTCGGACAGC																													2.37:g.130987239G>A			29	0.0344827586	1		41	0.41	17	.	2	0.00	0		RNA	SNP	ENST00000450578.1	37																																																																																						0.567	AC018804.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000332326.2			
AC018804.7	0	bcgsc.ca	37	2	130987270	130987270	+	RNA	SNP	C	C	A	rs112519538		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:130987270C>A	ENST00000450578.1	+	0	0																											GGAGCCGTTCCACTCCCTGCC	0.577																																					.													.	.			0			.																																											0	.			CCGTTCCACTCCC																													2.37:g.130987270C>A			33	0.0303030303	1		43	0.30	13	.	1	0.00	0		RNA	SNP	ENST00000450578.1	37																																																																																						0.577	AC018804.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000332326.2			
AC018804.7	0	bcgsc.ca	37	2	130987282	130987282	+	RNA	SNP	T	T	G	rs113034866		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:130987282T>G	ENST00000450578.1	+	0	0																											CTCCCTGCCATATGTGCTGGA	0.562																																					.													.	.			0			.																																											0	.			CTGCCATATGTGC																													2.37:g.130987282T>G			37	0.027027027	1		47	0.28	13	.	1	0.00	0		RNA	SNP	ENST00000450578.1	37																																																																																						0.562	AC018804.7-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000332326.2			
MCM6	4175	mdanderson.org	37	2	136615517	136615517	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr2:136615517G>T	ENST00000264156.2	-	10	1480	c.1420C>A	c.(1420-1422)Cat>Aat	p.H474N	MCM6_ENST00000492091.1_Intron	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	474	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		ATAGCTTCATGAATAGCAACT	0.418																																					p.H474N	Ovarian(196;141 2104 8848 24991 25939)												.	.			0			c.C1420A												283.0	225.0	244.0					2																	136615517		2203	4300	6503	SO:0001583	missense	4175	exon10			CTTCATGAATAGC		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.1420C>A	2.37:g.136615517G>T	ENSP00000264156:p.His474Asn		96	0	0		121	0.04	5	NM_005915	122	0.00	0	B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158511	0.94686	.	.	ENSG00000076003	ENST00000264156	T	0.10860	2.83	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.52008	0.1708	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69815	-0.5043	10	0.87932	D	0	-17.2502	19.7831	0.96426	0.0:0.0:1.0:0.0	.	474	Q14566	MCM6_HUMAN	N	474	ENSP00000264156:H474N	ENSP00000264156:H474N	H	-	1	0	MCM6	136331987	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.414000	0.97362	2.687000	0.91594	0.561000	0.74099	CAT			0.418	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254658.1		NM_005915	
NCOA3	8202	hgsc.bcm.edu;mdanderson.org	37	20	46279845	46279845	+	Silent	SNP	G	G	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr20:46279845G>A	ENST00000371998.3	+	20	3962	c.3771G>A	c.(3769-3771)caG>caA	p.Q1257Q	NCOA3_ENST00000371997.3_Silent_p.Q1248Q|NCOA3_ENST00000341724.6_Silent_p.Q1183Q|NCOA3_ENST00000372004.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1257	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						aacagcagcagcagcagcagc	0.567																																					p.Q1257Q													NCOA3,NS,carcinoma,0,1	NCOA3	0	1	0			c.G3771A												43.0	50.0	47.0					20																	46279845		2203	4300	6503	SO:0001819	synonymous_variant	8202	exon20			GCAGCAGCAGCAG	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3771G>A	20.37:g.46279845G>A			76	0	0		81	0.17	14	NM_181659	33	0.00	0	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	CCDS13407.1																																																																																					0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000080405.1		NM_006534	
DIP2A	23181	mdanderson.org	37	21	47969714	47969714	+	Silent	SNP	C	C	T	rs199823306		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr21:47969714C>T	ENST00000417564.2	+	22	2574	c.2553C>T	c.(2551-2553)caC>caT	p.H851H	DIP2A_ENST00000318711.7_Silent_p.H852H|DIP2A_ENST00000400274.1_Silent_p.H847H|DIP2A_ENST00000457905.3_Silent_p.H851H|DIP2A_ENST00000427143.2_Silent_p.H787H			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	851					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCGTGCTGCACGACGACCGGA	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16747	0.0		0.0	False		,,,				2504	0.0				p.H851H													.	.			0			c.C2553T							C	,,,	3,4401	6.2+/-15.9	0,3,2199	105.0	109.0	108.0		2361,2541,2553,2553	-9.5	0.1	21		108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DIP2A	NM_001146114.1,NM_001146116.1,NM_015151.3,NM_206889.2	,,,	0,4,6498	TT,TC,CC		0.0116,0.0681,0.0308	,,,	787/1111,847/1568,851/1572,851/890	47969714	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	23181	exon22			GCTGCACGACGAC	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2553C>T	21.37:g.47969714C>T			36	0	0		47	0.06	3	NM_206889	18	0.00	0	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Silent	SNP	ENST00000417564.2	37	CCDS46655.1																																																																																			0		0.622	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000376736.1		NM_015151	
CRYBB2P1	1416	broad.mit.edu	37	22	25855682	25855683	+	RNA	INS	-	-	GT	rs61433517|rs71322752		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr22:25855682_25855683insGT	ENST00000609084.1	+	0	0									crystallin, beta B2 pseudogene 1																		CCTGGCAGCTGgtgtgtgtgtg	0.53																																					.													.	.			0			.																																											0	.			GCAGCTGGTGTGT	M18441		22q11.2-q12.1	2012-02-29			ENSG00000100058	ENSG00000100058			2399	pseudogene	pseudogene				CRYB2B			Standard	NR_033733		Approved		uc003abu.4		OTTHUMG00000150874		22.37:g.25855691_25855692dupGT			5	0	0		7	0.43	3	.	4	0.00	0		RNA	INS	ENST00000609084.1	37																																																																																						0.530	CRYBB2P1-006	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000472347.1			
CRELD2	79174	mdanderson.org	37	22	50319192	50319192	+	Silent	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr22:50319192G>T	ENST00000328268.4	+	9	1070	c.996G>T	c.(994-996)ccG>ccT	p.P332P	CRELD2_ENST00000404488.3_Silent_p.P381P|CRELD2_ENST00000403427.3_Silent_p.P304P|CRELD2_ENST00000407217.3_Silent_p.P300P	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	332						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGTGTGCCGCCGGCAGAGG	0.587																																					p.P381P													CRELD2_ENST00000404488,NS,malignant_melanoma,+2,2	CRELD2_ENST00000404488	2	2	0			c.G1143T												88.0	82.0	84.0					22																	50319192		2203	4300	6503	SO:0001819	synonymous_variant	79174	exon10			TGTGCCGCCGGCA	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.996G>T	22.37:g.50319192G>T			43	0	0		40	0.08	3	NM_001135101	195	0.00	0	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Silent	SNP	ENST00000328268.4	37	CCDS14082.1																																																																																					0.587	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317409.1		NM_024324	
STAB1	23166	mdanderson.org	37	3	52552811	52552811	+	Missense_Mutation	SNP	C	C	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr3:52552811C>T	ENST00000321725.6	+	48	5036	c.4960C>T	c.(4960-4962)Cgg>Tgg	p.R1654W		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1654	FAS1 5. {ECO:0000255|PROSITE- ProRule:PRU00082, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCGGCGGCTGCGGAGCGAGGA	0.701																																					p.R1654W													.	.			0			c.C4960T												28.0	33.0	31.0					3																	52552811		2201	4297	6498	SO:0001583	missense	23166	exon48			CGGCTGCGGAGCG	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4960C>T	3.37:g.52552811C>T	ENSP00000312946:p.Arg1654Trp		40	0	0		75	0.05	4	NM_015136	25	0.00	0	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	37	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	C	9.187	1.025099	0.19433	.	.	ENSG00000010327	ENST00000321725	D	0.90676	-2.71	5.26	-4.27	0.03744	FAS1 domain (5);	1.779270	0.02662	N	0.107612	D	0.84665	0.5522	L	0.46819	1.47	0.18873	N	0.999983	B	0.19331	0.035	B	0.14578	0.011	T	0.66428	-0.5926	10	0.40728	T	0.16	.	2.8291	0.05494	0.3376:0.2451:0.3082:0.109	.	1654	Q9NY15	STAB1_HUMAN	W	1654	ENSP00000312946:R1654W	ENSP00000312946:R1654W	R	+	1	2	STAB1	52527851	0.000000	0.05858	0.002000	0.10522	0.038000	0.13279	-0.453000	0.06778	-1.498000	0.01824	-0.830000	0.03078	CGG			0.701	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000351380.2		NM_015136	
KIT	3815	broad.mit.edu	37	4	55593613	55593613	+	Missense_Mutation	SNP	T	T	G	rs121913521|rs121913511|rs121913510		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr4:55593613T>G	ENST00000288135.5	+	11	1776	c.1679T>G	c.(1678-1680)gTt>gGt	p.V560G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	560			Missing (in GIST; somatic mutation). {ECO:0000269|PubMed:9438854}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V560D(52)|p.W557_E561del(17)|p.V560del(16)|p.K558_E562del(10)|p.V560G(9)|p.V559_E561del(8)|p.V560E(6)|p.V559_V560del(6)|p.Q556_V560del(6)|p.K558_V560del(5)|p.V560_L576del(4)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_V560>N(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_V560>V(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_D572del(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.V555_Y570del(1)|p.Q556_V560>HNLQLY(1)|p.Q556_D572del(1)|p.Q556_E561del(1)|p.V559_P573>A(1)|p.K558_L576>NV(1)|p.Q556_E561>HH(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K558_G565>R(1)|p.V560A(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.K558_V560>M(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAAGGTTGTTGAGGAGATA	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																												p.V560G			yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	KIT,NS,carcinoma,-1,66	KIT	7396	66	212	Deletion - In frame(116)|Substitution - Missense(68)|Complex - deletion inframe(27)|Complex - insertion inframe(1)	soft_tissue(198)|haematopoietic_and_lymphoid_tissue(6)|skin(5)|testis(1)|genital_tract(1)|thymus(1)	c.T1679G	GRCh37	CD982724|CM077194	KIT	D|M	rs67104871							81.0	82.0	82.0					4																	55593613		2203	4300	6503	SO:0001583	missense	3815	exon11	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	AGGTTGTTGAGGA	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.1679T>G	4.37:g.55593613T>G	ENSP00000288135:p.Val560Gly		79	0	0		113	0.04	4	NM_000222	29	0.62	18	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.506007	0.85282	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.94828	-3.53;-3.53	6.06	6.06	0.98353	Protein kinase-like domain (1);	0.000000	0.56097	D	0.000032	D	0.96793	0.8953	M	0.72118	2.19	0.80722	D	1	D;P;B	0.76494	0.999;0.818;0.42	D;P;P	0.68192	0.956;0.865;0.695	D	0.97231	0.9884	10	0.87932	D	0	.	16.6003	0.84812	0.0:0.0:0.0:1.0	.	67;556;560	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	G	560;556	ENSP00000288135:V560G;ENSP00000390987:V556G	ENSP00000288135:V560G	V	+	2	0	KIT	55288370	1.000000	0.71417	0.943000	0.38184	0.809000	0.45718	7.880000	0.87243	2.319000	0.78375	0.533000	0.62120	GTT			0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1	rescued with RNA-seq		
ANK2	287	mdanderson.org	37	4	114263059	114263059	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr4:114263059G>T	ENST00000357077.4	+	33	4162	c.4109G>T	c.(4108-4110)aGc>aTc	p.S1370I	ANK2_ENST00000510275.2_Missense_Mutation_p.S22I|ANK2_ENST00000509550.1_Missense_Mutation_p.S546I|ANK2_ENST00000264366.6_Missense_Mutation_p.S1337I|ANK2_ENST00000394537.3_Missense_Mutation_p.S1370I|ANK2_ENST00000506722.1_Missense_Mutation_p.S1361I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1370	UPA domain.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTGGCCAGAAGCAGGGATGTG	0.353																																					p.S1370I													.	.			0			c.G4109T												74.0	72.0	73.0					4																	114263059		2203	4300	6503	SO:0001583	missense	287	exon33			CCAGAAGCAGGGA	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4109G>T	4.37:g.114263059G>T	ENSP00000349588:p.Ser1370Ile		39	0	0		40	0.08	3	NM_001148	18	0.00	0	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.9|27.9	4.877167|4.877167	0.91664|0.91664	.|.	.|.	ENSG00000145362|ENSG00000145362	ENST00000514960;ENST00000504415|ENST00000503423;ENST00000506722;ENST00000431447;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275	.|T;T;T;T;T;T;T;T	.|0.35048	.|1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.54|5.54	5.54|5.54	0.83059|0.83059	.|.	.|0.000000	.|0.64402	.|D	.|0.000007	T|T	0.67739|0.67739	0.2925|0.2925	M|M	0.87827|0.87827	2.91|2.91	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;0.999;0.999;1.0	.|D;D;D;D;D;D;D	.|0.91635	.|0.997;0.997;0.991;0.997;0.991;0.999;0.999	T|T	0.73316|0.73316	-0.4021|-0.4021	5|10	.|0.87932	.|D	.|0	.|.	19.4923|19.4923	0.95056|0.95056	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|546;1337;416;382;1370;1370;1361	.|E9PCH6;Q01484;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;ANK2_HUMAN;.;.;.;.;.	N|I	382;64|1283;1361;416;1385;1370;1370;1337;1361;546;22	.|ENSP00000421011:S1283I;ENSP00000421067:S1361I;ENSP00000424722:S1385I;ENSP00000378044:S1370I;ENSP00000349588:S1370I;ENSP00000264366:S1337I;ENSP00000426944:S546I;ENSP00000421023:S22I	.|ENSP00000264366:S1337I	K|S	+|+	3|2	2|0	ANK2|ANK2	114482508|114482508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.607000|2.607000	0.88179|0.88179	0.650000|0.650000	0.86243|0.86243	AAG|AGC			0.353	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000256422.2		NM_001148	
IRX2	153572	mdanderson.org	37	5	2749899	2749899	+	Silent	SNP	G	G	T	rs149245392	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:2749899G>T	ENST00000382611.6	-	2	500	c.252C>A	c.(250-252)ggC>ggA	p.G84G	IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000397835.4_5'Flank|C5orf38_ENST00000334000.3_5'Flank|C5orf38_ENST00000457752.2_5'Flank|C5orf38_ENST00000505778.1_5'Flank|IRX2_ENST00000302057.5_Silent_p.G84G	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	84					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTAGGGTGCGCCCTGGAACC	0.697													G|||	24	0.00479233	0.0174	0.0014	5008	,	,		12759	0.0		0.0	False		,,,				2504	0.0				p.G84G													.	.			0			c.C252A							G	,	52,4354	52.9+/-88.7	0,52,2151	43.0	49.0	47.0		252,252	1.1	1.0	5	dbSNP_134	47	2,8596	1.2+/-3.3	0,2,4297	no	coding-synonymous,coding-synonymous	IRX2	NM_001134222.1,NM_033267.4	,	0,54,6448	TT,TG,GG		0.0233,1.1802,0.4153	,	84/472,84/472	2749899	54,12950	2203	4299	6502	SO:0001819	synonymous_variant	153572	exon2			GGGTGCGCCCTGG	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.252C>A	5.37:g.2749899G>T			18	0	0		23	0.13	3	NM_001134222	0		0	Q68A19|Q7Z2I7	Silent	SNP	ENST00000382611.6	37	CCDS3868.1																																																																																			0.004		0.697	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000206749.2			
IL7R	3575	broad.mit.edu	37	5	35875632	35875632	+	Missense_Mutation	SNP	G	G	C			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:35875632G>C	ENST00000303115.3	+	7	948	c.819G>C	c.(817-819)tgG>tgC	p.W273C	IL7R_ENST00000506850.1_Missense_Mutation_p.G242A|IL7R_ENST00000343305.4_Missense_Mutation_p.G242A	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	273					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTATCGTATGGCCCAGTCTCC	0.433			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																														p.W273C				Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	IL7R	200		0			c.G819C												115.0	103.0	107.0					5																	35875632		2203	4300	6503	SO:0001583	missense	3575	exon7			CGTATGGCCCAGT	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.819G>C	5.37:g.35875632G>C	ENSP00000306157:p.Trp273Cys		77	0	0		133	0.07	9	NM_002185	223	0.00	0	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.10|18.10	3.547976|3.547976	0.65311|0.65311	.|.	.|.	ENSG00000168685|ENSG00000168685	ENST00000343305;ENST00000506850;ENST00000505093|ENST00000303115;ENST00000505875	T;T|T;T	0.43688|0.46819	0.94;0.94|1.31;0.86	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65729|0.65729	0.2719|0.2719	M|M	0.63843|0.63843	1.955|1.955	0.28726|0.28726	N|N	0.902748|0.902748	D|D	0.89917|0.89917	1.0|1.0	D|D	0.87578|0.75484	0.998|0.986	T|T	0.62144|0.62144	-0.6916|-0.6916	9|10	0.02654|0.48119	T|T	1|0.1	-5.7157|-5.7157	15.4923|15.4923	0.75619|0.75619	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	242|273	D6RGV2|P16871	.|IL7RA_HUMAN	A|C	242;242;45|273;39	ENSP00000345819:G242A;ENSP00000421207:G242A|ENSP00000306157:W273C;ENSP00000420923:W39C	ENSP00000345819:G242A|ENSP00000306157:W273C	G|W	+|+	2|3	0|0	IL7R|IL7R	35911389|35911389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	5.070000|5.070000	0.64376|0.64376	2.729000|2.729000	0.93468|0.93468	0.563000|0.563000	0.77884|0.77884	GGC|TGG			0.433	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207577.2			
NIPBL	25836	mdanderson.org	37	5	36986049	36986049	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr5:36986049G>T	ENST00000282516.8	+	10	3266	c.2767G>T	c.(2767-2769)Ggt>Tgt	p.G923C	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.G923C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	923					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGGACAGAGGGTAACAAGAG	0.378																																					p.G923C													.	.			0			c.G2767T												83.0	87.0	86.0					5																	36986049		2203	4300	6503	SO:0001583	missense	25836	exon10			ACAGAGGGTAACA	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.2767G>T	5.37:g.36986049G>T	ENSP00000282516:p.Gly923Cys		58	0	0		42	0.07	3	NM_015384	17	0.00	0	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.580804	0.28180	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.95238	-3.64;-3.65	5.99	3.29	0.37713	.	0.205916	0.43747	D	0.000539	D	0.89061	0.6608	N	0.19112	0.55	0.42313	D	0.992223	P;D	0.54964	0.855;0.969	B;B	0.43478	0.326;0.421	D	0.87274	0.2288	10	0.59425	D	0.04	.	11.1211	0.48291	0.2479:0.0:0.7521:0.0	.	923;923	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	923	ENSP00000282516:G923C;ENSP00000406266:G923C	ENSP00000282516:G923C	G	+	1	0	NIPBL	37021806	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.450000	0.44943	0.441000	0.26529	-0.794000	0.03295	GGT			0.378	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207582.1		NM_015384	
SLC22A16	85413	mdanderson.org	37	6	110768107	110768107	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr6:110768107G>T	ENST00000368919.3	-	3	686	c.620C>A	c.(619-621)aCc>aAc	p.T207N	SLC22A16_ENST00000330550.4_Missense_Mutation_p.T173N|SLC22A16_ENST00000439654.1_Missense_Mutation_p.T207N|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	207					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	AGCCATGAAGGTGTAATAATC	0.423																																					p.T207N													.	.			0			c.C620A												78.0	75.0	76.0					6																	110768107		2203	4300	6503	SO:0001583	missense	85413	exon3			ATGAAGGTGTAAT		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.620C>A	6.37:g.110768107G>T	ENSP00000357915:p.Thr207Asn		59	0	0		47	0.06	3	NM_033125	0		0	O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	G	6.743	0.505851	0.12822	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378;ENST00000424139	T;T;T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78;-0.78;-0.78	5.14	2.29	0.28610	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.358804	0.32719	N	0.005723	T	0.51432	0.1674	L	0.53671	1.685	0.80722	D	1	B;B	0.30973	0.302;0.257	B;B	0.28385	0.089;0.053	T	0.50717	-0.8795	10	0.52906	T	0.07	.	9.6162	0.39692	0.2937:0.5691:0.1372:0.0	.	207;173	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	N	207;124;173;207;37;164;164	ENSP00000357915:T207N;ENSP00000395642:T124N;ENSP00000328583:T173N;ENSP00000408799:T207N;ENSP00000409306:T37N;ENSP00000416310:T164N;ENSP00000401007:T164N	ENSP00000328583:T173N	T	-	2	0	SLC22A16	110874800	1.000000	0.71417	0.996000	0.52242	0.093000	0.18481	0.997000	0.29731	0.154000	0.19237	-1.243000	0.01532	ACC			0.423	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043428.1		NM_033125	
ARID1B	57492	broad.mit.edu;mdanderson.org	37	6	157100005	157100005	+	Silent	SNP	C	C	A	rs587779748|rs184815562		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr6:157100005C>A	ENST00000350026.5	+	1	943	c.942C>A	c.(940-942)ggC>ggA	p.G314G	RP11-230C9.2_ENST00000603191.1_lincRNA|ARID1B_ENST00000346085.5_Silent_p.G314G|RP11-230C9.3_ENST00000604792.1_RNA|ARID1B_ENST00000275248.4_Silent_p.G256G|MIR4466_ENST00000606121.1_RNA|ARID1B_ENST00000367148.1_Silent_p.G314G	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	314	Gly-rich.				chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		gcggcggcggcggaggaggag	0.756																																					p.G314G													.	ARID1B	320		0			c.C942A												1.0	1.0	1.0					6																	157100005		538	1345	1883	SO:0001819	synonymous_variant	57492	exon1			CGGCGGCGGAGGA	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.942C>A	6.37:g.157100005C>A			36	0	0		45	0.13	6	NM_017519	0		0	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																					0.756	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000372723.1		NM_020732	
ARPC1B	10095	mdanderson.org	37	7	98988687	98988687	+	Missense_Mutation	SNP	C	C	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:98988687C>A	ENST00000451682.1	+	8	981	c.672C>A	c.(670-672)agC>agA	p.S224R	ARPC1B_ENST00000252725.5_Missense_Mutation_p.S224R|PDAP1_ENST00000496335.1_5'Flank			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	224					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cellular component movement (GO:0006928)	actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCACGACAGCACCGTCTGCC	0.622																																					p.S224R													.	.			0			c.C672A												46.0	39.0	42.0					7																	98988687		2203	4300	6503	SO:0001583	missense	10095	exon6			CGACAGCACCGTC	AF006084	CCDS5661.1	7q22.1	2013-03-14	2002-08-29		ENSG00000130429	ENSG00000130429		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	704	protein-coding gene	gene with protein product	"""ARP2/3 protein complex subunit p41"", ""actin related protein 2/3 complex, subunit 1A (41 kD)"""	604223	"""actin related protein 2/3 complex, subunit 1B (41 kD)"""			9230079, 9359840	Standard	NM_005720		Approved	ARC41, p40-ARC, p41-ARC	uc003upz.3	O15143	OTTHUMG00000154552	ENST00000451682.1:c.672C>A	7.37:g.98988687C>A	ENSP00000389631:p.Ser224Arg		28	0	0		41	0.07	3	NM_005720	1230	0.00	0	Q9BU00	Missense_Mutation	SNP	ENST00000451682.1	37	CCDS5661.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404358	0.83230	.	.	ENSG00000130429	ENST00000252725;ENST00000451682	T;T	0.66280	-0.2;-0.2	5.59	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.079603	0.85682	D	0.000000	T	0.78953	0.4365	M	0.89414	3.03	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.62649	0.905;0.905	T	0.80783	-0.1228	10	0.54805	T	0.06	-55.7939	11.8992	0.52673	0.0:0.8572:0.0:0.1428	.	224;224	A4D275;O15143	.;ARC1B_HUMAN	R	224	ENSP00000252725:S224R;ENSP00000389631:S224R	ENSP00000252725:S224R	S	+	3	2	ARPC1B	98826623	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.137000	0.42130	0.733000	0.32492	0.561000	0.74099	AGC			0.622	ARPC1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000335894.1		NM_005720	
FOXP2	93986	broad.mit.edu;mdanderson.org	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																					p.Q204Q													FOXP2,NS,carcinoma,0,6	FOXP2	133	6	1	Substitution - coding silent(1)	lung(1)	c.G612A												41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986	exon5			ACAACAGCAGCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A			13	0	0		27	0.19	5	NM_001172767	0		0	A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	CCDS5760.1																																																																																					0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317366.1		NM_014491	
ZNF786	136051	mdanderson.org	37	7	148769129	148769129	+	Silent	SNP	G	G	A			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:148769129G>A	ENST00000491431.1	-	4	799	c.735C>T	c.(733-735)tgC>tgT	p.C245C	ZNF786_ENST00000451334.3_Silent_p.C208C|ZNF786_ENST00000316286.9_Silent_p.C159C	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCTCTTACCGCACACGCCAC	0.647																																					p.C245C													.	.			0			c.C735T												26.0	33.0	31.0					7																	148769129		2141	4245	6386	SO:0001819	synonymous_variant	136051	exon4			CTTACCGCACACG	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.735C>T	7.37:g.148769129G>A			46	0	0		44	0.07	3	NM_152411	3	0.00	0	A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	CCDS47738.1																																																																																					0.647	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352751.1		NM_152411	
REPIN1	29803	mdanderson.org	37	7	150069137	150069137	+	Silent	SNP	C	C	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr7:150069137C>T	ENST00000425389.2	+	1	885	c.807C>T	c.(805-807)tgC>tgT	p.C269C	RP4-584D14.5_ENST00000488310.1_RNA|REPIN1_ENST00000489432.2_Silent_p.C326C|REPIN1_ENST00000397281.2_Silent_p.C269C|REPIN1_ENST00000466559.1_3'UTR|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000444957.1_Silent_p.C269C|REPIN1_ENST00000540729.1_Silent_p.C269C	NM_014374.3	NP_055189.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	269					DNA replication (GO:0006260)|regulation of fatty acid transport (GO:2000191)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cytosolic ribosome (GO:0022626)|lipid particle (GO:0005811)|nuclear membrane (GO:0031965)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCCCCGAGTGCGGGAAGCGCT	0.662																																					p.C326C													.	.			0			c.C978T												20.0	24.0	23.0					7																	150069137		2129	4259	6388	SO:0001819	synonymous_variant	29803	exon3			CGAGTGCGGGAAG	AF201303	CCDS43677.1, CCDS47745.1	7q36.1	2013-01-08	2003-08-07	2003-08-08				"""Zinc fingers, C2H2-type"""	17922	protein-coding gene	gene with protein product	"""replication initiation region protein (60kD)"", ""zinc finger protein AP4"", ""zinc finger protein 464 (RIP60)"""		"""zinc finger protein 464 (RIP60)"""	ZNF464		10606657	Standard	NM_013400		Approved	RIP60, AP4, H_DJ0584D14.12, Zfp464	uc010lpr.1	Q9BWE0		ENST00000425389.2:c.807C>T	7.37:g.150069137C>T			28	0	0		38	0.08	3	NM_001099695	49	0.00	0	C9J3L7|D3DWZ1|Q7LE03|Q9BUZ6|Q9NZH2|Q9UMP5	Silent	SNP	ENST00000425389.2	37	CCDS43677.1																																																																																					0.662	REPIN1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000376940.1		NM_014374	
SGK223	157285	mdanderson.org	37	8	8176578	8176578	+	Missense_Mutation	SNP	G	G	A	rs200725218		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:8176578G>A	ENST00000520004.1	-	6	3571	c.3307C>T	c.(3307-3309)Cgg>Tgg	p.R1103W	SGK223_ENST00000330777.4_Missense_Mutation_p.R1103W			Q86YV5	SG223_HUMAN		1105	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCCGAGTCCCGCACGAAGTCG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		9898	0.0		0.001	False		,,,				2504	0.0				p.R1103W	GBM(34;731 755 10259 33573 33867)												.	.			0			c.C3307T							G	TRP/ARG	0,4178		0,0,2089	56.0	65.0	62.0		3307	5.5	1.0	8		62	3,8389		0,3,4193	yes	missense	SGK223	NM_001080826.1	101	0,3,6282	AA,AG,GG		0.0357,0.0,0.0239	probably-damaging	1103/1403	8176578	3,12567	2089	4196	6285	SO:0001583	missense	0	exon5			AGTCCCGCACGAA																												ENST00000520004.1:c.3307C>T	8.37:g.8176578G>A	ENSP00000428054:p.Arg1103Trp		27	0	0		36	0.08	3	NM_001080826	31	0.00	0	Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	CCDS43706.1	4	0.0018315018315018315	0	0.0	0	0.0	2	0.0034965034965034965	2	0.002638522427440633	G	20.5	3.999393	0.74818	0.0	3.57E-4	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.59906	0.23;0.23	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.193534	0.45361	D	0.000361	T	0.72676	0.3490	M	0.73598	2.24	0.46437	D	0.999049	D	0.89917	1.0	D	0.73380	0.98	T	0.75107	-0.3434	10	0.87932	D	0	.	9.8569	0.41090	0.0:0.1392:0.6979:0.1629	.	1103	Q86YV5	SG223_HUMAN	W	1103	ENSP00000330930:R1103W;ENSP00000428054:R1103W	ENSP00000330930:R1103W	R	-	1	2	AC068353.1	8213988	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.966000	0.29331	2.750000	0.94351	0.467000	0.42956	CGG	0.002		0.687	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374864.1			
PLEC	5339	mdanderson.org	37	8	144992667	144992667	+	Silent	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:144992667G>T	ENST00000322810.4	-	32	11902	c.11733C>A	c.(11731-11733)ccC>ccA	p.P3911P	PLEC_ENST00000398774.2_Silent_p.P3742P|PLEC_ENST00000527096.1_Silent_p.P3797P|PLEC_ENST00000436759.2_Silent_p.P3801P|PLEC_ENST00000345136.3_Silent_p.P3774P|PLEC_ENST00000354958.2_Silent_p.P3752P|PLEC_ENST00000357649.2_Silent_p.P3778P|PLEC_ENST00000354589.3_Silent_p.P3774P|PLEC_ENST00000356346.3_Silent_p.P3760P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3911	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTCGGTGTAGGGGTCACGGT	0.682																																					p.P3911P													.	.			0			c.C11733A												8.0	11.0	10.0					8																	144992667		2036	4159	6195	SO:0001819	synonymous_variant	5339	exon32			GGTGTAGGGGTCA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.11733C>A	8.37:g.144992667G>T			28	0	0		35	0.09	3	NM_201380	110	0.00	0	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	CCDS43772.1																																																																																					0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000383281.1		NM_000445	
MROH1	727957	mdanderson.org	37	8	145267992	145267992	+	Intron	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:145267992G>T	ENST00000528919.1	+	12	1262				MROH1_ENST00000527071.1_Intron|MROH1_ENST00000398656.4_Intron|MROH1_ENST00000423230.2_Missense_Mutation_p.D413Y|MROH1_ENST00000534366.1_Intron|MROH1_ENST00000326134.5_Intron	NM_032450.2	NP_115826	Q8NDA8	MROH1_HUMAN	maestro heat-like repeat family member 1																		GCAGCCTGCTGATCTAACGGC	0.577																																					p.D413Y													.	.			0			c.G1237T												92.0	104.0	100.0					8																	145267992		2137	4237	6374	SO:0001627	intron_variant	727957	exon13			CCTGCTGATCTAA		CCDS47938.1, CCDS47939.1, CCDS75803.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000179832	ENSG00000179832		"""maestro heat-like repeat containing"""	26958	protein-coding gene	gene with protein product			"""HEAT repeat containing 7A"""	HEATR7A		11347906	Standard	NM_032450		Approved	KIAA1833	uc003zbk.4	Q8NDA8	OTTHUMG00000165781	ENST00000528919.1:c.1142-7511G>T	8.37:g.145267992G>T			38	0	0		41	0.07	3	NM_001099280	14	0.00	0	C9JWM5|D3DWL5|Q0P612|Q569G6|Q6NVW4|Q8N230|Q8NAD1|Q8ND95|Q96JJ4	Missense_Mutation	SNP	ENST00000528919.1	37	CCDS47938.1	.	.	.	.	.	.	.	.	.	.	G	2.321	-0.355593	0.05138	.	.	ENSG00000179832	ENST00000423230	T	0.17370	2.28	0.818	0.818	0.18778	.	.	.	.	.	T	0.14570	0.0352	.	.	.	0.09310	N	1	D	0.58268	0.982	P	0.44422	0.449	T	0.17107	-1.0380	8	0.56958	D	0.05	.	4.9456	0.13987	0.0:0.0:1.0:0.0	.	413	Q8NDA8-4	.	Y	413	ENSP00000388174:D413Y	ENSP00000388174:D413Y	D	+	1	0	HEATR7A	145339980	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-0.802000	0.04545	0.714000	0.32081	0.460000	0.39030	GAT			0.577	MROH1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000386183.1		NM_032450	
CPSF1	29894	mdanderson.org	37	8	145622455	145622455	+	Silent	SNP	C	C	T	rs113296524	byFrequency	TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chr8:145622455C>T	ENST00000349769.3	-	23	2653	c.2559G>A	c.(2557-2559)gcG>gcA	p.A853A	CPSF1_ENST00000531727.1_5'Flank	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	853					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTGCCCAGCGCCACCAGCA	0.716													c|||	30	0.00599042	0.0219	0.0014	5008	,	,		10359	0.0		0.0	False		,,,				2504	0.0				p.A853A	NSCLC(133;1088 1848 27708 34777 35269)												.	.			0			c.G2559A							C		63,4009		0,63,1973	4.0	5.0	5.0		2559	-10.1	0.0	8	dbSNP_132	5	2,8004		0,2,4001	no	coding-synonymous	CPSF1	NM_013291.2		0,65,5974	TT,TC,CC		0.025,1.5472,0.5382		853/1444	145622455	65,12013	2036	4003	6039	SO:0001819	synonymous_variant	29894	exon23			GCCCAGCGCCACC	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2559G>A	8.37:g.145622455C>T			21	0	0		13	0.15	2	NM_013291	46	0.00	0	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																			0.009		0.716	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382422.2		NM_013291	
WNK3	65267	mdanderson.org	37	X	54263899	54263899	+	Missense_Mutation	SNP	G	G	T			TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chrX:54263899G>T	ENST00000375159.2	-	19	4099	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	WNK3_ENST00000354646.2_Missense_Mutation_p.S1367Y|WNK3_ENST00000375169.3_Missense_Mutation_p.S1320Y			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1367					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCTTCACTAGAATGGTTTGT	0.353																																					p.S1367Y													.	.			0			c.C4100A												80.0	73.0	75.0					X																	54263899		2203	4300	6503	SO:0001583	missense	65267	exon20			TCACTAGAATGGT	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4100C>A	X.37:g.54263899G>T	ENSP00000364301:p.Ser1367Tyr		18	0	0		16	0.13	2	NM_020922	3	0.00	0	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	ENST00000375159.2	37	CCDS14357.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346274	0.41599	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.71103	-0.54;-0.54;-0.54	5.27	4.41	0.53225	.	0.114316	0.39475	N	0.001353	T	0.73544	0.3600	L	0.29908	0.895	0.23795	N	0.996825	D;D	0.89917	1.0;0.964	D;P	0.87578	0.998;0.694	T	0.64253	-0.6451	10	0.72032	D	0.01	-6.7781	9.0274	0.36239	0.1055:0.0:0.8945:0.0	.	1320;1367	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	Y	1320;1367;1367	ENSP00000364312:S1320Y;ENSP00000346667:S1367Y;ENSP00000364301:S1367Y	ENSP00000346667:S1367Y	S	-	2	0	WNK3	54280624	0.998000	0.40836	0.797000	0.32132	0.608000	0.37181	2.321000	0.43805	1.112000	0.41740	0.600000	0.82982	TCT			0.353	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000056799.2		NM_020922	
RP11-1007I13.4	0	broad.mit.edu	37	X	151296337	151296337	+	RNA	DEL	A	A	-	rs5904333		TCGA-4K-AA1H-01A-11D-A435-10	TCGA-4K-AA1H-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	d16db8a0-c864-4e5d-be62-73087e35b0c1	642a50a5-f7ea-4e8c-a370-94d09c675725	g.chrX:151296337delA	ENST00000509345.2	-	0	172																											GGAATTCCAGAAAAAAAAAAA	0.448																																					.													.	.			0			.																																											0	.			TTCCAGAAAAAAA																													X.37:g.151296337delA			4	0	0		12	0.58	7	.	0		0		RNA	DEL	ENST00000509345.2	37																																																																																						0.448	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript		OTTHUMT00000445981.1			
