#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
CASZ1	54897	mdanderson.org	37	1	10699456	10699456	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr1:10699456G>T	ENST00000377022.3	-	21	5140	c.4823C>A	c.(4822-4824)cCc>cAc	p.P1608H	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1608					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CCCGGGCGCGGGGCCCTCTGC	0.746																																					p.P1608H													.	.			0			c.C4823A												4.0	6.0	6.0					1																	10699456		1617	3604	5221	SO:0001583	missense	54897	exon21			GGCGCGGGGCCCT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.4823C>A	1.37:g.10699456G>T	ENSP00000366221:p.Pro1608His		39	0	0		44	0.07	3	NM_001079843	0		0	Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	ENST00000377022.3	37	CCDS41246.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.331848	0.41297	.	.	ENSG00000130940	ENST00000377022	.	.	.	3.82	2.87	0.33458	.	0.000000	0.44688	U	0.000435	T	0.50939	0.1645	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.46512	-0.9186	9	0.35671	T	0.21	-11.5107	6.7094	0.23268	0.1004:0.0:0.723:0.1766	.	1608	Q86V15	CASZ1_HUMAN	H	1608	.	ENSP00000366221:P1608H	P	-	2	0	CASZ1	10622043	0.872000	0.30054	0.974000	0.42286	0.462000	0.32619	1.517000	0.35867	1.851000	0.53745	0.195000	0.17529	CCC			0.746	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000005673.2		NM_017766	
TCHH	7062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152082981	152082981	+	Silent	SNP	C	C	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr1:152082981C>T	ENST00000368804.1	-	2	2711	c.2712G>A	c.(2710-2712)caG>caA	p.Q904Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	904					keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCAGCAGCTGCTGTTCCT	0.572																																					p.Q904Q													.	.			0			c.G2712A												121.0	133.0	129.0					1																	152082981		2123	4240	6363	SO:0001819	synonymous_variant	7062	exon3			CAGCAGCTGCTGT	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2712G>A	1.37:g.152082981C>T			140	0	0		131	0.12	16	NM_007113	0		0	Q5VUI3	Silent	SNP	ENST00000368804.1	37	CCDS41396.1																																																																																					0.572	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000036671.2		NM_007113	
MCM10	55388	hgsc.bcm.edu	37	10	13230971	13230971	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:13230971G>T	ENST00000484800.2	+	10	1412	c.1309G>T	c.(1309-1311)Gga>Tga	p.G437*	MCM10_ENST00000378694.1_Nonsense_Mutation_p.G436*|MCM10_ENST00000378714.3_Nonsense_Mutation_p.G436*			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	437					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTCTCTGGAGGACGAATTCC	0.537																																					p.G437X													.	.			0			c.G1309T												131.0	125.0	127.0					10																	13230971		2203	4300	6503	SO:0001587	stop_gained	55388	exon10			TCTGGAGGACGAA	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.1309G>T	10.37:g.13230971G>T	ENSP00000418268:p.Gly437*		84	0	0		100	0.04	4	NM_182751	20	0.00	0	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Nonsense_Mutation	SNP	ENST00000484800.2	37	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	G	39	7.549423	0.98352	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-18.9984	12.3367	0.55071	0.078:0.0:0.922:0.0	.	.	.	.	X	436;437;437;436	.	ENSP00000354945:G437X	G	+	1	0	MCM10	13270977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.321000	0.51999	2.747000	0.94245	0.655000	0.94253	GGA			0.537	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000356853.1		NM_182751	
ZEB1	6935	mdanderson.org	37	10	31816109	31816109	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:31816109G>A	ENST00000320985.10	+	9	3402	c.3292G>A	c.(3292-3294)Gct>Act	p.A1098T	ZEB1_ENST00000446923.2_Missense_Mutation_p.A1082T|ZEB1_ENST00000361642.5_Missense_Mutation_p.A1099T|ZEB1_ENST00000560721.2_Missense_Mutation_p.A1078T|ZEB1_ENST00000542815.3_Missense_Mutation_p.A1031T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	1098	Glu-rich (acidic).				cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GGATGACAGGGCTGAAAGTCA	0.448																																					p.A1099T	Ovarian(40;423 959 14296 36701 49589)												.	.			0			c.G3295A												125.0	119.0	121.0					10																	31816109		2203	4300	6503	SO:0001583	missense	6935	exon9			GACAGGGCTGAAA	AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.3292G>A	10.37:g.31816109G>A	ENSP00000319248:p.Ala1098Thr		20	0	0		16	0.13	2	NM_001174096	36	0.00	0	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.686353	0.47991	.	.	ENSG00000148516	ENST00000542879;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.12147	3.02;2.72;2.76;2.71;2.76	5.31	5.31	0.75309	.	118.256000	0.00748	N	0.001056	T	0.16727	0.0402	L	0.47716	1.5	0.09310	N	1	B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.002;0.001;0.001;0.001	T	0.27297	-1.0078	10	0.28530	T	0.3	-3.3217	8.3869	0.32505	0.0779:0.0:0.7672:0.1549	.	1031;1082;1078;1099;1098	F5H4I8;E9PCM7;Q5VZ84;Q2KJ05;P37275	.;.;.;.;ZEB1_HUMAN	T	880;1099;1093;1031;1098;1078;617;989;1082	ENSP00000444282:A880T;ENSP00000354487:A1099T;ENSP00000444891:A1031T;ENSP00000319248:A1098T;ENSP00000391612:A1082T	ENSP00000319248:A1098T	A	+	1	0	ZEB1	31856115	0.156000	0.22821	0.009000	0.14445	0.006000	0.05464	2.999000	0.49473	2.477000	0.83638	0.650000	0.86243	GCT			0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000419083.2		NM_030751	
KIF5B	3799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	32323677	32323677	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:32323677T>C	ENST00000302418.4	-	11	1509	c.1052A>G	c.(1051-1053)aAt>aGt	p.N351S		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	351					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CAGGATCTTATTTTTTTCTTT	0.343			T	"""RET, ALK"""	NSCLC																																p.N351S				Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	.	.			0			c.A1052G												64.0	62.0	63.0					10																	32323677		2203	4300	6503	SO:0001583	missense	3799	exon11			ATCTTATTTTTTT	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1052A>G	10.37:g.32323677T>C	ENSP00000307078:p.Asn351Ser		157	0	0		158	0.07	11	NM_004521	148	0.22	33	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070272	0.36566	.	.	ENSG00000170759	ENST00000302418	T	0.72725	-0.68	5.26	5.26	0.73747	.	0.047139	0.85682	D	0.000000	T	0.69043	0.3067	M	0.76002	2.32	0.50039	D	0.999844	B	0.02656	0.0	B	0.04013	0.001	T	0.67150	-0.5743	10	0.45353	T	0.12	.	11.2054	0.48767	0.0:0.0:0.1535:0.8465	.	351	P33176	KINH_HUMAN	S	351	ENSP00000307078:N351S	ENSP00000307078:N351S	N	-	2	0	KIF5B	32363683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.912000	0.63335	1.971000	0.57363	0.460000	0.39030	AAT			0.343	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047467.1		NM_004521	
GDF10	2662	mdanderson.org	37	10	48438614	48438614	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:48438614C>T	ENST00000224605.2	-	1	362	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	33					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CTGTGGCTGCCGGCCACATCC	0.751																																					p.G33S													.	.			0			c.G97A												3.0	4.0	4.0					10																	48438614		1453	3318	4771	SO:0001583	missense	2662	exon1			GGCTGCCGGCCAC	L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.97G>A	10.37:g.48438614C>T	ENSP00000224605:p.Gly33Ser		22	0	0		23	0.09	2	NM_004962	0		0	Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	ENST00000224605.2	37	CCDS7220.1	.	.	.	.	.	.	.	.	.	.	C	1.770	-0.484665	0.04352	.	.	ENSG00000107623	ENST00000224605	T	0.74209	-0.82	3.99	0.909	0.19332	.	0.705620	0.13016	N	0.420510	T	0.55689	0.1936	N	0.24115	0.695	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.39742	-0.9599	10	0.36615	T	0.2	.	5.7264	0.18015	0.5989:0.2947:0.0:0.1064	.	33	P55107	BMP3B_HUMAN	S	33	ENSP00000224605:G33S	ENSP00000224605:G33S	G	-	1	0	GDF10	48058620	.	.	0.120000	0.21714	0.018000	0.09664	.	.	-0.018000	0.14079	-0.261000	0.10672	GGC			0.751	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000047884.1		NM_004962	
VDAC2	7417	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	76970938	76970938	+	Missense_Mutation	SNP	T	T	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:76970938T>A	ENST00000332211.6	+	2	235	c.22T>A	c.(22-24)Tgc>Agc	p.C8S	VDAC2_ENST00000535553.1_5'UTR|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Missense_Mutation_p.C8S|VDAC2_ENST00000313132.4_5'UTR	NM_003375.3	NP_003366.2	P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	8					anion transport (GO:0006820)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein polymerization (GO:0032272)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CGGACAGACTTGCGCGCGTCG	0.602																																					p.C8S													.	.			0			c.T22A												37.0	34.0	35.0					10																	76970938		2203	4300	6503	SO:0001583	missense	7417	exon2			CAGACTTGCGCGC	BC000165	CCDS7348.1, CCDS53544.1	10q22	2011-11-15			ENSG00000165637	ENSG00000165637		"""Voltage-dependent anion channels"""	12672	protein-coding gene	gene with protein product		193245				7517385, 10049775	Standard	NM_003375		Approved		uc021ptp.1	P45880	OTTHUMG00000018517	ENST00000332211.6:c.22T>A	10.37:g.76970938T>A	ENSP00000361686:p.Cys8Ser		126	0	0		119	0.13	16	NM_003375	97	0.24	23	Q5VWK1|Q5VWK3|Q6IB40|Q7L3J5|Q9BWK8|Q9Y5I6	Missense_Mutation	SNP	ENST00000332211.6	37	CCDS7348.1	.	.	.	.	.	.	.	.	.	.	T	7.053	0.564821	0.13498	.	.	ENSG00000165637	ENST00000298468;ENST00000543351;ENST00000344036;ENST00000332211;ENST00000447677	T;T;T;T;T	0.41758	0.99;1.01;1.05;1.01;1.05	5.12	5.12	0.69794	.	3.394500	0.00447	N	0.000088	T	0.49150	0.1540	L	0.34521	1.04	0.80722	D	1	P	0.34662	0.462	P	0.45377	0.478	T	0.06006	-1.0851	10	0.36615	T	0.2	.	11.8816	0.52579	0.0:0.0:0.0:1.0	.	8	P45880	VDAC2_HUMAN	S	8	ENSP00000298468:C8S;ENSP00000443092:C8S;ENSP00000344876:C8S;ENSP00000361686:C8S;ENSP00000401492:C8S	ENSP00000298468:C8S	C	+	1	0	VDAC2	76640944	0.991000	0.36638	0.439000	0.26833	0.694000	0.40290	3.596000	0.54024	2.227000	0.72691	0.533000	0.62120	TGC			0.602	VDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048792.1		NM_003375	
ECHS1	1892	mdanderson.org	37	10	135180455	135180455	+	Nonsense_Mutation	SNP	G	G	T	rs200293355		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr10:135180455G>T	ENST00000368547.3	-	5	912	c.557C>A	c.(556-558)tCg>tAg	p.S186*		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	186					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enoyl-CoA hydratase activity (GO:0004300)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		CATCGCCAGCGACTTCCCAAC	0.622																																					p.S186X	GBM(132;1720 1771 5373 10277 21402)												ECHS1,colon,carcinoma,0,1	ECHS1	0	1	0			c.C557A												73.0	56.0	62.0					10																	135180455		2202	4300	6502	SO:0001587	stop_gained	1892	exon5			GCCAGCGACTTCC		CCDS7681.1	10q26.2-q26.3	2010-05-04	2010-04-30		ENSG00000127884	ENSG00000127884	4.2.1.17		3151	protein-coding gene	gene with protein product		602292	"""enoyl Coenzyme A hydratase, short chain, 1, mitochondrial"""			8012501	Standard	NM_004092		Approved	SCEH	uc001lmu.3	P30084	OTTHUMG00000019320	ENST00000368547.3:c.557C>A	10.37:g.135180455G>T	ENSP00000357535:p.Ser186*		26	0	0		44	0.07	3	NM_004092	396	0.00	0	O00739|Q5VWY1|Q96H54	Nonsense_Mutation	SNP	ENST00000368547.3	37	CCDS7681.1	.	.	.	.	.	.	.	.	.	.	G	39	7.682443	0.98431	.	.	ENSG00000127884	ENST00000368547	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8732	0.79141	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000357535:S186X	S	-	2	0	ECHS1	135030445	1.000000	0.71417	0.967000	0.41034	0.558000	0.35554	8.030000	0.88816	2.809000	0.96659	0.650000	0.86243	TCG			0.622	ECHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000051156.1			
NLRP6	171389	mdanderson.org	37	11	281438	281438	+	Silent	SNP	A	A	G			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:281438A>G	ENST00000312165.5	+	4	1704	c.1704A>G	c.(1702-1704)tcA>tcG	p.S568S	NLRP6_ENST00000534750.1_Silent_p.S568S	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	568					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCATGGTTTCAGAGCGTGTGA	0.677																																					p.S568S													.	.			0			c.A1704G												18.0	22.0	21.0					11																	281438		2200	4299	6499	SO:0001819	synonymous_variant	171389	exon4			GGTTTCAGAGCGT	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1704A>G	11.37:g.281438A>G			46	0	0		53	0.08	4	NM_138329	2	0.00	0	A8K9F3|E9PJZ8	Silent	SNP	ENST00000312165.5	37	CCDS7693.1																																																																																					0.677	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239283.1		NM_138329	
OR51G2	81282	mdanderson.org	37	11	4936427	4936427	+	Missense_Mutation	SNP	C	C	A	rs374071063		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:4936427C>A	ENST00000322013.3	-	1	495	c.467G>T	c.(466-468)cGt>cTt	p.R156L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACACTACGACCCAGAGA	0.473																																					p.R156L													.	.			0			c.G467T												69.0	72.0	71.0					11																	4936427		2201	4298	6499	SO:0001583	missense	81282	exon1			ACACTACGACCCA	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.467G>T	11.37:g.4936427C>A	ENSP00000322593:p.Arg156Leu		42	0	0		53	0.06	3	NM_001005238	0		0	Q6IFH7	Missense_Mutation	SNP	ENST00000322013.3	37	CCDS31365.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.648202	0.47258	.	.	ENSG00000176893	ENST00000322013	T	0.30981	1.51	5.58	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.58637	0.2136	M	0.89095	3.005	0.22142	N	0.999331	D	0.62365	0.991	D	0.65874	0.939	T	0.58103	-0.7695	10	0.72032	D	0.01	.	12.4631	0.55743	0.0:0.8328:0.1672:0.0	.	156	Q8NGK0	O51G2_HUMAN	L	156	ENSP00000322593:R156L	ENSP00000322593:R156L	R	-	2	0	OR51G2	4893003	0.003000	0.15002	0.146000	0.22360	0.308000	0.27856	1.456000	0.35201	1.586000	0.49944	0.655000	0.94253	CGT			0.473	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142174.1		NM_001005238	
COMMD9	29099	hgsc.bcm.edu;mdanderson.org	37	11	36310946	36310946	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:36310946G>T	ENST00000263401.5	-	1	33	c.17C>A	c.(16-18)gCg>gAg	p.A6E	COMMD9_ENST00000532705.1_Missense_Mutation_p.A6E|COMMD9_ENST00000452374.2_Missense_Mutation_p.A6E	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	6										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AAAATGCTCCGCTGTCAGGGC	0.627																																					p.A6E													.	.			0			c.C17A												40.0	26.0	31.0					11																	36310946		2131	4119	6250	SO:0001583	missense	29099	exon1			TGCTCCGCTGTCA	AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333	ENST00000263401.5:c.17C>A	11.37:g.36310946G>T	ENSP00000263401:p.Ala6Glu		64	0	0		53	0.08	4	NM_014186	42	0.00	0	E9PAN2|Q96FI2|Q9H0R0	Missense_Mutation	SNP	ENST00000263401.5	37	CCDS7900.1	.	.	.	.	.	.	.	.	.	.	G	3.385	-0.125465	0.06795	.	.	ENSG00000110442	ENST00000263401;ENST00000537683;ENST00000452374;ENST00000532705	.	.	.	4.94	4.03	0.46877	.	0.794537	0.11943	N	0.514458	T	0.16769	0.0403	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.24920	0.001;0.114;0.0	B;B;B	0.28011	0.001;0.085;0.0	T	0.20338	-1.0278	9	0.08179	T	0.78	-27.6213	10.7275	0.46077	0.0897:0.0:0.9103:0.0	.	6;6;6	B4DIH0;Q9P000-2;Q9P000	.;.;COMD9_HUMAN	E	6	.	ENSP00000263401:A6E	A	-	2	0	COMMD9	36267522	0.000000	0.05858	0.006000	0.13384	0.128000	0.20619	0.113000	0.15499	1.288000	0.44600	0.655000	0.94253	GCG			0.627	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389196.1		NM_014186	
IFT46	56912	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	118416169	118416169	+	Silent	SNP	G	G	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:118416169G>A	ENST00000264021.3	-	11	1192	c.774C>T	c.(772-774)tcC>tcT	p.S258S	TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000264020.2_Silent_p.S309S|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000442938.2_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	258					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						GCAGATGGAGGGACTGGATCC	0.468																																					p.S309S													.	.			0			c.C927T												125.0	126.0	126.0					11																	118416169		2200	4295	6495	SO:0001819	synonymous_variant	56912	exon12			ATGGAGGGACTGG	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.774C>T	11.37:g.118416169G>A			109	0	0		94	0.11	10	NM_020153	95	0.21	20	A8K0F6|Q9H6V5	Silent	SNP	ENST00000264021.3	37	CCDS53718.1																																																																																					0.468	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389627.1		NM_020153	
PHLDB1	23187	mdanderson.org	37	11	118514575	118514575	+	Missense_Mutation	SNP	G	G	T	rs145786415		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:118514575G>T	ENST00000361417.2	+	15	3346	c.2935G>T	c.(2935-2937)Ggc>Tgc	p.G979C	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G932C|PHLDB1_ENST00000527898.1_Missense_Mutation_p.G15C|PHLDB1_ENST00000524713.1_Missense_Mutation_p.G122C|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	979										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GACCCGCAGCGGccccctccc	0.647																																					p.G979C													.	.			0			c.G2935T												34.0	40.0	37.0					11																	118514575		2200	4295	6495	SO:0001583	missense	23187	exon14			CGCAGCGGCCCCC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2935G>T	11.37:g.118514575G>T	ENSP00000354498:p.Gly979Cys		57	0	0		54	0.06	3	NM_001144758	66	0.00	0	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686202	0.68157	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.53857	0.96;1.39;0.64;0.6	5.3	4.39	0.52855	.	0.330189	0.29159	N	0.012980	T	0.57829	0.2080	L	0.29908	0.895	0.36500	D	0.868943	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0;0.997	D;D;D;D;D;D;P	0.97110	1.0;0.98;0.934;0.934;0.997;0.959;0.862	T	0.64339	-0.6431	10	0.56958	D	0.05	-15.2208	9.7089	0.40233	0.1554:0.0:0.8446:0.0	.	117;122;343;723;932;932;979	B7Z2B9;B4DK17;B0YJ65;Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;.;.;.;PHLB1_HUMAN	C	979;738;343;932;15;122	ENSP00000354498:G979C;ENSP00000348359:G932C;ENSP00000435388:G15C;ENSP00000434905:G122C	ENSP00000348359:G932C	G	+	1	0	PHLDB1	118019785	0.996000	0.38824	0.956000	0.39512	0.829000	0.46940	3.088000	0.50175	2.478000	0.83669	0.655000	0.94253	GGC			0.647	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000389279.1		NM_015157	
TECTA	7007	broad.mit.edu	37	11	120989053	120989053	+	Silent	SNP	T	T	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr11:120989053T>C	ENST00000392793.1	+	7	1100	c.829T>C	c.(829-831)Ttg>Ctg	p.L277L	TECTA_ENST00000264037.2_Silent_p.L277L			O75443	TECTA_HUMAN	tectorin alpha	277	VWFC.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGATGACTTGAACTGCAC	0.517																																					p.L277L													.	TECTA	329		0			c.T829C												83.0	78.0	80.0					11																	120989053		2203	4299	6502	SO:0001819	synonymous_variant	7007	exon6			GATGACTTGAACT	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.829T>C	11.37:g.120989053T>C			127	0	0		130	0.03	4	NM_005422	2	0.00	0		Silent	SNP	ENST00000392793.1	37	CCDS8434.1																																																																																					0.517	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313850.1		NM_005422	
KRT73	319101	mdanderson.org	37	12	53002214	53002214	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr12:53002214G>T	ENST00000305748.3	-	9	1423	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	463	Tail.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGCCATCCCGGCCATGGAGC	0.622																																					p.A463A													KRT73,right_lower_lobe,carcinoma,0,1	KRT73	0	1	0			c.C1389A												38.0	36.0	37.0					12																	53002214		2203	4300	6503	SO:0001819	synonymous_variant	319101	exon9			CATCCCGGCCATG	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1389C>A	12.37:g.53002214G>T			42	0	0		39	0.08	3	NM_175068	0		0	Q32MB2	Silent	SNP	ENST00000305748.3	37	CCDS8834.1																																																																																					0.622	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405700.1		NM_175068	
RAP1B	5908	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	12	69050092	69050092	+	Missense_Mutation	SNP	A	A	G	rs372360254		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr12:69050092A>G	ENST00000250559.9	+	6	562	c.331A>G	c.(331-333)Atg>Gtg	p.M111V	RAP1B_ENST00000450214.2_Missense_Mutation_p.M69V|RAP1B_ENST00000539091.1_Missense_Mutation_p.M69V|RAP1B_ENST00000393436.5_Missense_Mutation_p.M111V|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000537460.1_Missense_Mutation_p.M111V|RAP1B_ENST00000378985.3_Missense_Mutation_p.M45V|RAP1B_ENST00000541216.1_Missense_Mutation_p.M111V|RAP1B_ENST00000542145.1_Missense_Mutation_p.M64V|RAP1B_ENST00000543393.1_Missense_Mutation_p.M45V|RAP1B_ENST00000341355.5_Missense_Mutation_p.M111V|RAP1B_ENST00000540209.1_Missense_Mutation_p.M92V	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	111					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TTAGGTTCCAATGATTCTTGT	0.303																																					p.M111V													.	.			0			c.A331G							A	VAL/MET,VAL/MET	1,4405		0,1,2202	94.0	96.0	96.0		331,331	5.2	1.0	12		96	0,8598		0,0,4299	no	missense,missense	RAP1B	NM_001010942.1,NM_015646.4	21,21	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	111/185,111/185	69050092	1,13003	2203	4299	6502	SO:0001583	missense	5908	exon6			GTTCCAATGATTC		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.331A>G	12.37:g.69050092A>G	ENSP00000250559:p.Met111Val		222	0	0		200	0.08	16	NM_001010942	96	0.19	18	B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Missense_Mutation	SNP	ENST00000250559.9	37	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.757159	0.69648	2.27E-4	0.0	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000545270;ENST00000538980;ENST00000543393;ENST00000453560;ENST00000378985;ENST00000540209;ENST00000540781;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000456697;ENST00000541216	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.77229	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-1.08;-0.22;-1.08;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.2	5.2	0.72013	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.70474	0.3228	N	0.05414	-0.055	0.80722	D	1	B;B;P;P	0.40619	0.417;0.201;0.724;0.552	P;B;P;P	0.51193	0.491;0.088;0.662;0.586	T	0.69982	-0.4997	9	.	.	.	.	15.7732	0.78187	1.0:0.0:0.0:0.0	.	64;69;92;111	B4DW94;B4DW74;B4DQI8;P61224	.;.;.;RAP1B_HUMAN	V	111;111;111;111;111;69;111;60;45;111;45;92;111;45;69;64;111;111	ENSP00000250559:M111V;ENSP00000377085:M111V;ENSP00000401095:M111V;ENSP00000441275:M111V;ENSP00000439966:M111V;ENSP00000399986:M69V;ENSP00000437415:M111V;ENSP00000444467:M60V;ENSP00000445090:M45V;ENSP00000444060:M111V;ENSP00000368270:M45V;ENSP00000446318:M92V;ENSP00000440466:M111V;ENSP00000443775:M45V;ENSP00000444830:M69V;ENSP00000440014:M64V;ENSP00000443851:M111V	.	M	+	1	0	RAP1B	67336359	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.871000	0.92346	2.261000	0.74972	0.459000	0.35465	ATG			0.303	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257821.3		NM_001010942	
KCTD12	115207	mdanderson.org	37	13	77459340	77459340	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr13:77459340G>T	ENST00000377474.2	-	1	1185	c.944C>A	c.(943-945)aCc>aAc	p.T315N	KCTD12_ENST00000317765.2_Missense_Mutation_p.T315N|AC000403.1_ENST00000579275.1_RNA	NM_138444.3	NP_612453.1	Q96CX2	KCD12_HUMAN	potassium channel tetramerization domain containing 12	315					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GGTGTAGCTGGTCCAGATCTT	0.632											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.T315N													.	.			0			c.C944A												76.0	61.0	66.0					13																	77459340		2203	4300	6503	SO:0001583	missense	115207	exon1			TAGCTGGTCCAGA	AF359381	CCDS9455.1	13q21	2013-06-20	2013-06-20	2003-11-26	ENSG00000178695	ENSG00000178695			14678	protein-coding gene	gene with protein product	"""predominantly fetal expressed T1 domain"""	610521	"""chromosome 13 open reading frame 2"", ""potassium channel tetramerisation domain containing 12"""	C13orf2		15357420	Standard	NM_138444		Approved	KIAA1778, PFET1	uc010aeu.1	Q96CX2	OTTHUMG00000017096	ENST00000377474.2:c.944C>A	13.37:g.77459340G>T	ENSP00000366694:p.Thr315Asn		48	0	0	1175	43	0.07	3	NM_138444	51	0.00	0		Missense_Mutation	SNP	ENST00000377474.2	37	CCDS9455.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744838	0.49151	.	.	ENSG00000178695	ENST00000377474;ENST00000317765	T;T	0.41065	1.01;1.01	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.27054	-1.0085	10	0.07175	T	0.84	.	17.9207	0.88965	0.0:0.0:1.0:0.0	.	315	Q96CX2	KCD12_HUMAN	N	315	ENSP00000366694:T315N;ENSP00000317141:T315N	ENSP00000317141:T315N	T	-	2	0	KCTD12	76357341	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.494000	0.73661	2.399000	0.81585	0.462000	0.41574	ACC			0.632	KCTD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000045309.2		NM_138444	
RP11-597A11.6	0	broad.mit.edu	37	14	20146543	20146544	+	lincRNA	INS	-	-	GTCCC	rs60511353|rs536110028	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr14:20146543_20146544insGTCCC	ENST00000555580.1	-	0	225				RP11-597A11.1_ENST00000548261.1_RNA																							CCAACTCAGCAGAACAGTGTCA	0.505														1248	0.249201	0.3147	0.3775	5008	,	,		16134	0.1438		0.2396	False		,,,				2504	0.1881				.													.	.			0			.																																											0	.			CTCAGCAGAACAG																													14.37:g.20146543_20146544insGTCCC			1	0	0		8	0.63	5	.	0		0		RNA	INS	ENST00000555580.1	37																																																																																						0.505	RP11-597A11.6-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000409767.1			
NIN	51199	mdanderson.org	37	14	51210176	51210176	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr14:51210176C>A	ENST00000382041.3	-	24	5449	c.5259G>T	c.(5257-5259)caG>caT	p.Q1753H	NIN_ENST00000382043.4_Missense_Mutation_p.Q1040H|NIN_ENST00000453196.1_Missense_Mutation_p.Q1753H|NIN_ENST00000389868.3_Missense_Mutation_p.Q1040H|NIN_ENST00000324330.9_Missense_Mutation_p.Q1753H|NIN_ENST00000530997.2_Missense_Mutation_p.Q1753H|NIN_ENST00000245441.5_Missense_Mutation_p.Q1753H	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1753					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCTCGCACTCTGATGTTCCC	0.423			T	PDGFRB	MPD																																p.Q1753H				Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	.	.			0			c.G5259T												197.0	171.0	180.0					14																	51210176		2203	4300	6503	SO:0001583	missense	51199	exon24			CGCACTCTGATGT	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.5259G>T	14.37:g.51210176C>A	ENSP00000371472:p.Gln1753His		100	0	0		102	0.05	5	NM_020921	26	0.00	0	A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.31|13.31	2.199062|2.199062	0.38806|0.38806	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000530997;ENST00000389869;ENST00000530853|ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196	.|T;T;T;T;T;T	.|0.69175	.|-0.38;-0.38;-0.38;-0.38;-0.38;-0.38	5.36|5.36	1.73|1.73	0.24493|0.24493	.|.	.|0.120370	.|0.56097	.|D	.|0.000024	.|T	.|0.74419	.|0.3714	M|M	0.71581|0.71581	2.175|2.175	0.24736|0.24736	N|N	0.993064|0.993064	.|D;D;D;D;D	.|0.69078	.|0.996;0.984;0.963;0.997;0.963	.|D;D;P;D;P	.|0.65773	.|0.938;0.914;0.735;0.929;0.735	.|T	.|0.64411	.|-0.6414	.|10	.|0.25751	.|T	.|0.34	-7.4903|-7.4903	9.271|9.271	0.37670|0.37670	0.0:0.708:0.0:0.292|0.0:0.708:0.0:0.292	.|.	.|1759;1753;1753;1040;1753	.|Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.|.;.;NIN_HUMAN;.;.	X|H	1244|1753;1736;1040;1040;1759;1753;1753;1753	.|ENSP00000245441:Q1753H;ENSP00000374518:Q1040H;ENSP00000371474:Q1040H;ENSP00000371472:Q1753H;ENSP00000324210:Q1753H;ENSP00000412391:Q1753H	.|ENSP00000245441:Q1753H	E|Q	-|-	1|3	0|2	NIN|NIN	50279926|50279926	0.996000|0.996000	0.38824|0.38824	0.054000|0.054000	0.19295|0.19295	0.359000|0.359000	0.29487|0.29487	0.619000|0.619000	0.24388|0.24388	0.167000|0.167000	0.19631|0.19631	-0.440000|-0.440000	0.05779|0.05779	GAG|CAG			0.423	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000395207.2		NM_182946	
TSHR	7253	mdanderson.org	37	14	81534631	81534631	+	Silent	SNP	G	G	T	rs538572108		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr14:81534631G>T	ENST00000541158.2	+	4	598	c.276G>T	c.(274-276)ctG>ctT	p.L92L	TSHR_ENST00000554435.1_Silent_p.L92L|TSHR_ENST00000554263.1_Silent_p.L92L|TSHR_ENST00000298171.2_Silent_p.L92L|TSHR_ENST00000342443.6_Silent_p.L92L			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	92					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TGCAGCAGCTGGAATCACACT	0.368			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																														p.L92L			yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	TSHR_ENST00000554435,NS,carcinoma,+1,2	TSHR_ENST00000554435	1	2	0			c.G276T												121.0	105.0	111.0					14																	81534631		2203	4300	6503	SO:0001819	synonymous_variant	7253	exon3			GCAGCTGGAATCA	AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.276G>T	14.37:g.81534631G>T			57	0	0		50	0.06	3	NM_001018036	1	0.00	0	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Silent	SNP	ENST00000541158.2	37	CCDS9872.1																																																																																					0.368	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000413364.1		NM_000369	
C15orf56	644809	mdanderson.org	37	15	40544585	40544585	+	Silent	SNP	A	A	G			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr15:40544585A>G	ENST00000319503.3	-	2	408	c.387T>C	c.(385-387)ctT>ctC	p.L129L	C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000560346.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000441369.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	129										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CCCGGAGGCGAAGGGCGGGCG	0.726																																					p.L129L													.	.			0			c.T387C												8.0	11.0	10.0					15																	40544585		2138	4208	6346	SO:0001819	synonymous_variant	644809	exon2			GAGGCGAAGGGCG		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.387T>C	15.37:g.40544585A>G			12	0.0833333333	1		18	0.17	3	NM_001039905	0		0		Silent	SNP	ENST00000319503.3	37	CCDS32197.1																																																																																					0.726	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418370.2		NM_001039905	
RFX7	64864	broad.mit.edu	37	15	56388298	56388298	+	Missense_Mutation	SNP	G	G	T	rs202048055		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr15:56388298G>T	ENST00000559447.2	-	9	1608	c.1337C>A	c.(1336-1338)aCa>aAa	p.T446K	RFX7_ENST00000422057.1_Missense_Mutation_p.T446K|RFX7_ENST00000423270.1_Missense_Mutation_p.T543K|RFX7_ENST00000317318.6_Missense_Mutation_p.T543K			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	446					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGATGATGTTTCGGGTTC	0.517																																					p.T543K													.	RFX7	170		0			c.C1628A												62.0	60.0	61.0					15																	56388298		1997	4166	6163	SO:0001583	missense	64864	exon9			GATGATGTTTCGG			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.1337C>A	15.37:g.56388298G>T	ENSP00000453281:p.Thr446Lys		120	0	0		143	0.04	6	NM_022841	22	0.00	0	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37		.	.	.	.	.	.	.	.	.	.	G	9.949	1.219692	0.22373	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.50813	0.73;0.73;0.73	5.09	-0.982	0.10266	.	0.745223	0.12331	N	0.478366	T	0.21227	0.0511	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.13469	-1.0508	10	0.52906	T	0.07	1.5738	2.2168	0.03962	0.2797:0.2639:0.353:0.1034	.	446;446	Q2KHR2;C9JU50	RFX7_HUMAN;.	K	446;543;543	ENSP00000387504:T446K;ENSP00000313299:T543K;ENSP00000397644:T543K	ENSP00000313299:T543K	T	-	2	0	RFX7	54175590	0.001000	0.12720	0.005000	0.12908	0.934000	0.57294	0.070000	0.14573	0.087000	0.17167	-0.140000	0.14226	ACA			0.517	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding		OTTHUMT00000418841.3		NM_022841	
CASKIN1	57524	mdanderson.org	37	16	2229742	2229742	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:2229742G>T	ENST00000343516.6	-	18	3719	c.3627C>A	c.(3625-3627)ccC>ccA	p.P1209P	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1209	Pro-rich.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGGCAATGGGGGTAGGTGCG	0.766																																					p.P1209P													.	.			0			c.C3627A												3.0	4.0	3.0					16																	2229742		1380	3187	4567	SO:0001819	synonymous_variant	57524	exon18			CAATGGGGGTAGG	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.3627C>A	16.37:g.2229742G>T			18	0	0		12	0.17	2	NM_020764	0		0	Q9P2P0	Silent	SNP	ENST00000343516.6	37	CCDS42103.1																																																																																					0.766	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000435055.1		NM_020764	
ABCA3	21	mdanderson.org	37	16	2339582	2339582	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:2339582G>T	ENST00000301732.5	-	20	3253	c.2553C>A	c.(2551-2553)gcC>gcA	p.A851A	ABCA3_ENST00000382381.3_Silent_p.A793A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	851					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGAGCTGGATGGCCTGGATGT	0.667																																					p.A851A													.	.			0			c.C2553A												33.0	26.0	28.0					16																	2339582		2179	4272	6451	SO:0001819	synonymous_variant	21	exon20			CTGGATGGCCTGG	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2553C>A	16.37:g.2339582G>T			43	0	0		52	0.06	3	NM_001089	26	0.00	0	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	CCDS10466.1																																																																																					0.667	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250784.2		NM_001089	
C16orf96	342346	broad.mit.edu	37	16	4630064	4630064	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:4630064G>T	ENST00000444310.4	+	7	2290	c.2290G>T	c.(2290-2292)Gat>Tat	p.D764Y		NM_001145011.1	NP_001138483.1			chromosome 16 open reading frame 96											NS(1)|breast(1)|endometrium(6)|kidney(1)|skin(3)	12						GATGATGAAGGATCGCTACAT	0.507																																					p.D764Y													.	C16orf96	28		0			c.G2290T												93.0	87.0	89.0					16																	4630064		692	1591	2283	SO:0001583	missense	342346	exon7			ATGAAGGATCGCT		CCDS53986.1	16p13.3	2012-10-10			ENSG00000205832	ENSG00000205832			40031	protein-coding gene	gene with protein product							Standard	NM_001145011		Approved		uc010uxn.2	A6NNT2	OTTHUMG00000176519	ENST00000444310.4:c.2290G>T	16.37:g.4630064G>T	ENSP00000415027:p.Asp764Tyr		129	0	0		121	0.03	4	NM_001145011	2	0.00	0		Missense_Mutation	SNP	ENST00000444310.4	37	CCDS53986.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560899	0.27827	.	.	ENSG00000205832	ENST00000444310	.	.	.	4.09	3.04	0.35103	.	.	.	.	.	T	0.35278	0.0926	N	0.14661	0.345	0.24720	N	0.993153	D	0.76494	0.999	D	0.65684	0.937	T	0.09640	-1.0665	8	0.62326	D	0.03	.	4.3571	0.11183	0.2954:0.0:0.7046:0.0	.	764	A6NNT2	CP096_HUMAN	Y	764	.	ENSP00000415027:D764Y	D	+	1	0	C16orf96	4570065	0.425000	0.25498	0.991000	0.47740	0.011000	0.07611	0.299000	0.19138	0.814000	0.34374	0.456000	0.33151	GAT			0.507	C16orf96-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432384.1		NM_001145011	
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu	37	16	21073932	21073932	+	Silent	SNP	C	C	T	rs374099468		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr16:21073932C>T	ENST00000261383.3	-	25	3590	c.3591G>A	c.(3589-3591)ccG>ccA	p.P1197P	DNAH3_ENST00000415178.1_Silent_p.P1197P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1197	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCTTCAAGTGCGGCTGCACTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		21604	0.0		0.001	False		,,,				2504	0.0				p.P1197P													.	.			0			c.G3591A							C		3,4399	6.2+/-15.9	0,3,2198	93.0	87.0	89.0		3591	-2.6	1.0	16		89	0,8600		0,0,4300	no	coding-synonymous	DNAH3	NM_017539.1		0,3,6498	TT,TC,CC		0.0,0.0682,0.0231		1197/4117	21073932	3,12999	2201	4300	6501	SO:0001819	synonymous_variant	55567	exon25			CAAGTGCGGCTGC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3591G>A	16.37:g.21073932C>T			121	0	0		118	0.04	5	NM_017539	1	0.00	0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																					0.433	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207361.1		NM_017539	
DOC2B	8447	broad.mit.edu	37	17	31199	31199	+	Frame_Shift_Del	DEL	G	G	-	rs551529924	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr17:31199delG	ENST00000343572.7	-	1	228	c.72delC	c.(70-72)cccfs	p.P24fs	AC108004.2_ENST00000576171.1_lincRNA|DOC2B_ENST00000609727.1_5'Flank	NM_003585.3	NP_003576	Q14184	DOC2B_HUMAN	double C2-like domains, beta	24	Mediates interaction with DYNLT1.|Negatively regulates targeting to plasma membrane. {ECO:0000250}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of insulin secretion (GO:0032024)|positive regulation of vesicle fusion (GO:0031340)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			endometrium(2)|ovary(1)	3						GGATGGGGCCGGGGCACACGT	0.751																																					p.P24fs													.	DOC2B	6		0			c.72delC												3.0	3.0	3.0					17																	31199		571	1338	1909	SO:0001589	frameshift_variant	8447	exon1			GGGGCCGGGGCAC	D70830	CCDS73934.1	17p13.3	2014-07-16			ENSG00000272636	ENSG00000272636		"""Synaptotagmins"""	2986	protein-coding gene	gene with protein product		604568	"""double C2-like domains, beta-like"""	DOC2BL		7826360	Standard	NM_003585		Approved		uc010vpx.1	Q14184	OTTHUMG00000154415	ENST00000343572.7:c.72delC	17.37:g.31199delG	ENSP00000343665:p.Pro24fs		8	0	0		6	0.33	2	NM_003585	0		0		Frame_Shift_Del	DEL	ENST00000343572.7	37																																																																																						0.751	DOC2B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000335122.3		NM_003585	
LRRC37BP1	147172	hgsc.bcm.edu	37	17	28960994	28960994	+	RNA	SNP	T	T	C	rs57752761		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr17:28960994T>C	ENST00000417404.1	+	0	1269									leucine rich repeat containing 37B pseudogene 1																		cttttttcttttttttttttt	0.303																																					.													.	.			0			.																																											147172	.			TTTCTTTTTTTTT	BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960994T>C			68	0	0		84	0.05	4	.	2	0.00	0		RNA	SNP	ENST00000417404.1	37																																																																																						0.303	LRRC37BP1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000256203.1		NR_015341	
ATP8B1	5205	mdanderson.org	37	18	55335769	55335769	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr18:55335769G>T	ENST00000283684.4	-	18	2100	c.2101C>A	c.(2101-2103)Ctg>Atg	p.L701M	RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.L701M|RP11-35G9.3_ENST00000599199.1_RNA			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	701					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTAGCTCCCAGGAGCTAGAAT	0.363																																					p.L701M													.	.			0			c.C2101A												80.0	71.0	74.0					18																	55335769		2203	4300	6503	SO:0001583	missense	5205	exon19			CTCCCAGGAGCTA	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2101C>A	18.37:g.55335769G>T	ENSP00000283684:p.Leu701Met		68	0	0		61	0.05	3	NM_005603	11	0.00	0	Q9BTP8	Missense_Mutation	SNP	ENST00000283684.4	37	CCDS11965.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253748	0.59212	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.73469	-0.75;-0.75	5.89	-4.84	0.03151	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.075782	0.56097	D	0.000040	D	0.84552	0.5497	M	0.88450	2.955	0.30623	N	0.75829	D	0.63880	0.993	D	0.64877	0.93	D	0.84821	0.0796	10	0.87932	D	0	.	15.9974	0.80262	0.3782:0.0:0.6218:0.0	.	701	O43520	AT8B1_HUMAN	M	701	ENSP00000283684:L701M;ENSP00000445359:L701M	ENSP00000283684:L701M	L	-	1	2	ATP8B1	53486767	0.196000	0.23350	0.019000	0.16419	0.362000	0.29581	0.767000	0.26575	-0.642000	0.05480	-0.484000	0.04775	CTG			0.363	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256097.1		NM_005603	
TNFRSF11A	8792	mdanderson.org	37	18	60036584	60036584	+	Silent	SNP	T	T	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr18:60036584T>C	ENST00000586569.1	+	9	1472	c.1434T>C	c.(1432-1434)ctT>ctC	p.L478L	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	478					adaptive immune response (GO:0002250)|cell-cell signaling (GO:0007267)|circadian temperature homeostasis (GO:0060086)|lymph node development (GO:0048535)|mammary gland alveolus development (GO:0060749)|monocyte chemotaxis (GO:0002548)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling (GO:0071848)|positive regulation of fever generation by positive regulation of prostaglandin secretion (GO:0071812)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|response to cytokine (GO:0034097)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to radiation (GO:0009314)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|TNFSF11-mediated signaling pathway (GO:0071847)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				GCATGGGCCTTCCCCCTGAAG	0.662																																					p.L478L													.	.			0			c.T1434C												36.0	38.0	37.0					18																	60036584		2151	4200	6351	SO:0001819	synonymous_variant	8792	exon9			GGGCCTTCCCCCT	AF018253	CCDS11980.1, CCDS59324.1, CCDS74227.1, CCDS74228.1	18q22.1	2014-09-17			ENSG00000141655	ENSG00000141655		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11908	protein-coding gene	gene with protein product		603499	"""tumor necrosis factor receptor superfamily, member 11a, activator of NFKB"", ""Paget disease of bone 2"", ""loss of heterozygosity, 18, chromosomal region 1"""	PDB2, LOH18CR1		9367155, 10615125	Standard	NM_001270951		Approved	RANK, CD265, FEO	uc002lin.4	Q9Y6Q6	OTTHUMG00000132779	ENST00000586569.1:c.1434T>C	18.37:g.60036584T>C			30	0.0333333333	1		16	0.13	2	NM_003839	1	0.00	0	I4EC36|I4EC38|I4EC39|I7JE63|N0GVH0|Q59EP9	Silent	SNP	ENST00000586569.1	37	CCDS11980.1																																																																																					0.662	TNFRSF11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256186.2			
SH3GL1	6455	mdanderson.org	37	19	4362649	4362649	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:4362649G>T	ENST00000269886.3	-	8	991	c.813C>A	c.(811-813)tcC>tcA	p.S271S	SH3GL1_ENST00000417295.2_Silent_p.S223S|SH3GL1_ENST00000598564.1_Silent_p.S207S|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	271					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		AGCCCCCGTTGGACTGCTCAG	0.642			T	MLL	AL																																p.S271S	NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	.	.			0			c.C813A												47.0	48.0	48.0					19																	4362649		2203	4300	6503	SO:0001819	synonymous_variant	6455	exon8			CCCGTTGGACTGC		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.813C>A	19.37:g.4362649G>T			42	0	0		48	0.06	3	NM_003025	74	0.00	0	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																					0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458302.1		NM_003025	
ZNRF4	148066	mdanderson.org	37	19	5455601	5455601	+	Silent	SNP	G	G	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:5455601G>A	ENST00000222033.4	+	1	176	c.99G>A	c.(97-99)ctG>ctA	p.L33L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	33						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CAACTCAACTGCCCTCGCGTC	0.662																																					p.L33L													.	.			0			c.G99A												40.0	47.0	45.0					19																	5455601		2092	4201	6293	SO:0001819	synonymous_variant	148066	exon1			TCAACTGCCCTCG	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.99G>A	19.37:g.5455601G>A			47	0	0		35	0.09	3	NM_181710	0		0	A8K886|O75866	Silent	SNP	ENST00000222033.4	37	CCDS42475.1																																																																																					0.662	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450924.1		NM_181710	
GRAMD1A	57655	mdanderson.org	37	19	35504213	35504213	+	Silent	SNP	G	G	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr19:35504213G>A	ENST00000317991.5	+	8	852	c.660G>A	c.(658-660)gaG>gaA	p.E220E	GRAMD1A_ENST00000411896.2_Silent_p.E213E|GRAMD1A_ENST00000599564.1_Silent_p.E307E|GRAMD1A_ENST00000504615.2_Intron|CTD-2527I21.14_ENST00000605640.1_RNA	NM_020895.3	NP_065946.2	Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	220						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			ACGGCTCAGAGCTGGGCCTCA	0.632											OREG0025425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.E220E													.	.			0			c.G660A												30.0	33.0	32.0					19																	35504213		1999	4125	6124	SO:0001819	synonymous_variant	57655	exon8			CTCAGAGCTGGGC	AK074864	CCDS42546.1, CCDS46046.1	19q13.13	2008-02-05	2005-11-02	2005-11-02		ENSG00000089351			29305	protein-coding gene	gene with protein product			"""KIAA1533"""	KIAA1533		10819331	Standard	NM_020895		Approved	FLJ90346	uc010xse.1	Q96CP6		ENST00000317991.5:c.660G>A	19.37:g.35504213G>A			67	0	0	855	53	0.06	3	NM_020895	181	0.00	0	A6NKY7|Q8NC77|Q9P1Z5	Silent	SNP	ENST00000317991.5	37	CCDS42546.1																																																																																					0.632	GRAMD1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000461557.1		NM_020895	
KIAA1211L	343990	mdanderson.org	37	2	99439368	99439368	+	Silent	SNP	C	C	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:99439368C>T	ENST00000397899.2	-	7	1699	c.1368G>A	c.(1366-1368)ccG>ccA	p.P456P		NM_207362.2	NP_997245.2	Q6NV74	K121L_HUMAN	KIAA1211-like	456	Pro-rich.																GCTCAGGCGCCGGCCCTGGGG	0.736																																					p.P456P													.	.			0			c.G1368A												11.0	14.0	13.0					2																	99439368		1802	4020	5822	SO:0001819	synonymous_variant	343990	exon7			AGGCGCCGGCCCT	BC068277	CCDS42720.1	2q11.2	2012-08-03	2012-08-03	2012-08-03	ENSG00000196872	ENSG00000196872			33454	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 55"""	C2orf55			Standard	NM_207362		Approved	MGC42367	uc002szf.1	Q6NV74	OTTHUMG00000153171	ENST00000397899.2:c.1368G>A	2.37:g.99439368C>T			18	0	0		18	0.11	2	NM_207362	2	0.00	0		Silent	SNP	ENST00000397899.2	37	CCDS42720.1																																																																																					0.736	KIAA1211L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000329933.1		NM_207362	
KCNJ3	3760	mdanderson.org	37	2	155555973	155555973	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:155555973G>T	ENST00000295101.2	+	1	1163	c.686G>T	c.(685-687)cGc>cTc	p.R229L	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Missense_Mutation_p.R229L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	229					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GCGCAGATTCGCTGCAAGCTG	0.627																																					p.R229L													.	.			0			c.G686T												25.0	22.0	23.0					2																	155555973		2203	4300	6503	SO:0001583	missense	3760	exon1			AGATTCGCTGCAA	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.686G>T	2.37:g.155555973G>T	ENSP00000295101:p.Arg229Leu		10	0	0		15	0.13	2	NM_001260509	0		0	B4DEW7|Q8TBI0	Missense_Mutation	SNP	ENST00000295101.2	37	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	G	35	5.543395	0.96474	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	D;D	0.94613	-3.1;-3.47	5.83	5.83	0.93111	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99167	1.0863	10	0.87932	D	0	.	18.6832	0.91554	0.0:0.0:1.0:0.0	.	229;229	B4DEW7;P48549	.;IRK3_HUMAN	L	229	ENSP00000295101:R229L;ENSP00000438410:R229L	ENSP00000295101:R229L	R	+	2	0	KCNJ3	155264219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.794000	0.99096	2.760000	0.94817	0.561000	0.74099	CGC			0.627	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254890.2		NM_002239	
GBX2	2637	mdanderson.org	37	2	237076461	237076461	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr2:237076461G>T	ENST00000306318.4	-	1	551	c.154C>A	c.(154-156)Ccg>Acg	p.P52T	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000465889.1_5'Flank|GBX2_ENST00000551105.1_Missense_Mutation_p.P52T|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	52					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		agcACTACCGGCCGGTAGGGC	0.731																																					p.P52T													.	.			0			c.C154A												3.0	4.0	4.0					2																	237076461		1865	3712	5577	SO:0001583	missense	2637	exon1			CTACCGGCCGGTA	AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.154C>A	2.37:g.237076461G>T	ENSP00000302251:p.Pro52Thr		36	0	0		42	0.07	3	NM_001485	10	0.00	0	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Missense_Mutation	SNP	ENST00000306318.4	37	CCDS2515.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.371955	0.61624	.	.	ENSG00000168505	ENST00000306318;ENST00000551105	D	0.94046	-3.34	4.73	4.73	0.59995	.	0.069603	0.64402	D	0.000014	D	0.92456	0.7605	N	0.24115	0.695	0.48975	D	0.999737	D;P	0.59357	0.985;0.666	P;B	0.55824	0.785;0.194	D	0.93858	0.7151	10	0.72032	D	0.01	-19.3188	16.4622	0.84064	0.0:0.0:1.0:0.0	.	52;52	F8VY47;P52951	.;GBX2_HUMAN	T	52	ENSP00000302251:P52T	ENSP00000302251:P52T	P	-	1	0	GBX2	236741200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.031000	0.49728	2.176000	0.68965	0.462000	0.41574	CCG			0.731	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257078.3		NM_001485	
ISM1	140862	broad.mit.edu;mdanderson.org	37	20	13260477	13260477	+	Missense_Mutation	SNP	C	C	T	rs543712330		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr20:13260477C>T	ENST00000262487.4	+	3	581	c.575C>T	c.(574-576)cCc>cTc	p.P192L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	192						extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TTCCTCAACCCCCCCAGGGGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		17919	0.0		0.0	False		,,,				2504	0.001				p.P192L													.	ISM1	41		0			c.C575T												50.0	57.0	55.0					20																	13260477		1885	4109	5994	SO:0001583	missense	140862	exon3			TCAACCCCCCCAG	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.575C>T	20.37:g.13260477C>T	ENSP00000262487:p.Pro192Leu		54	0	0		56	0.09	5	NM_080826	0		0	Q8WVH9	Missense_Mutation	SNP	ENST00000262487.4	37	CCDS46579.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.008045	0.54361	.	.	ENSG00000101230	ENST00000262487;ENST00000447521	T;T	0.43294	0.95;0.96	6.07	5.12	0.69794	.	0.093723	0.85682	D	0.000000	T	0.35799	0.0944	L	0.39898	1.24	0.80722	D	1	B	0.18741	0.03	B	0.15484	0.013	T	0.09164	-1.0687	10	0.35671	T	0.21	-16.3162	14.4832	0.67597	0.0:0.9291:0.0:0.0709	.	192	B1AKI9	ISM1_HUMAN	L	192;146	ENSP00000262487:P192L;ENSP00000409938:P146L	ENSP00000262487:P192L	P	+	2	0	ISM1	13208477	1.000000	0.71417	0.996000	0.52242	0.960000	0.62799	5.408000	0.66368	1.549000	0.49425	0.655000	0.94253	CCC			0.552	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078039.2			
RRBP1	6238	bcgsc.ca	37	20	17640067	17640067	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr20:17640067G>T	ENST00000377813.1	-	3	1389	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	RRBP1_ENST00000246043.4_Silent_p.A362A|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000377807.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	362	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGGCCCCCTCGGCCTTCTTGC	0.637																																					.													.	RRBP1	157		0			.																																									SO:0001819	synonymous_variant	6238	.			CCCCTCGGCCTTC	AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1086C>A	20.37:g.17640067G>T			49	0.0612244898	3		57	0.12	7	.	130	0.00	0	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	ENST00000377813.1	37																																																																																						0.637	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576	
TTLL3	26140	broad.mit.edu	37	3	9852059	9852060	+	5'UTR	INS	-	-	GAT	rs34761997|rs371829944|rs5846648	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr3:9852059_9852060insGAT	ENST00000547186.1	+	0	156_157				TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_In_Frame_Ins_p.124_124D>DD|ARPC4-TTLL3_ENST00000397256.1_Intron|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000427853.3_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3						axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCCGGTCCTCGACCCCTCTCC	0.748														4087	0.816094	0.8714	0.7363	5008	,	,		10372	0.748		0.8996	False		,,,				2504	0.7822				p.L123delinsLD													.	TTLL3	51		0			c.369_370insGAT																																									SO:0001623	5_prime_UTR_variant	26140	exon1			GGTCCTCGACCCC		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.-60->GAT	3.37:g.9852059_9852060insGAT			6	0	0		11	0.55	6	NM_001025930	1	0.00	0	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	In_Frame_Ins	INS	ENST00000547186.1	37																																																																																						0.748	TTLL3-203	KNOWN	basic	protein_coding	protein_coding				NM_001025930.2	
TKT	7086	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	53264545	53264545	+	Silent	SNP	G	G	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr3:53264545G>C	ENST00000462138.1	-	8	1123	c.1035C>G	c.(1033-1035)tcC>tcG	p.S345S	TKT_ENST00000423516.1_Silent_p.S353S|TKT_ENST00000296289.6_Silent_p.S298S|TKT_ENST00000423525.2_Silent_p.S345S|TKT_ENST00000461139.1_5'UTR			P29401	TKT_HUMAN	transketolase	345					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCGAGAAGGTGGAATTTTTGG	0.597																																					p.S353S	Colon(133;1506 2347 35238 42177)												.	.			0			c.C1059G												119.0	111.0	114.0					3																	53264545		2203	4300	6503	SO:0001819	synonymous_variant	7086	exon9			GAAGGTGGAATTT		CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1035C>G	3.37:g.53264545G>C			157	0	0		153	0.07	10	NM_001258028	790	0.29	226	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	ENST00000462138.1	37	CCDS2871.1																																																																																					0.597	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350356.1			
SLC9C1	285335	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	3	111997684	111997684	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr3:111997684G>T	ENST00000305815.5	-	4	462	c.210C>A	c.(208-210)gcC>gcA	p.A70A	SLC9C1_ENST00000467397.1_5'UTR|SLC9C1_ENST00000487372.1_Silent_p.A70A	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	70					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TCCATTGTATGGCGTTTGCGT	0.318																																					p.A70A													SLC9A10,NS,carcinoma,-2,1	SLC9A10	-2	1	0			c.C210A												109.0	117.0	114.0					3																	111997684		2202	4299	6501	SO:0001819	synonymous_variant	285335	exon4			TTGTATGGCGTTT	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.210C>A	3.37:g.111997684G>T			81	0	0		61	0.05	3	NM_183061	1	0.00	0	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																					0.318	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354066.1		NM_183061	
KIT	3815	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	55599320	55599320	+	Missense_Mutation	SNP	G	G	T	rs121913506		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:55599320G>T	ENST00000288135.5	+	17	2543	c.2446G>T	c.(2446-2448)Gac>Tac	p.D816Y		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	816	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> F (in mastocytosis; requires 2 nucleotide substitutions; somatic mutation; constitutively activated and is much more rapidly autophosphorylated than wild type). {ECO:0000269|PubMed:9990072}.|D -> H (in a testicular tumor; seminoma; somatic mutation; constitutively activated; dbSNP:rs28933969). {ECO:0000269|PubMed:10362788}.|D -> V (in mast cell leukemia and mastocytosis; somatic mutation; constitutively activated; loss of interaction with MPDZ). {ECO:0000269|PubMed:7691885, ECO:0000269|PubMed:9990072}.|D -> Y (in acute myeloid leukemia, mastocytosis and a germ cell tumor of the testis; somatic mutation; constitutively activated). {ECO:0000269|PubMed:16175573, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:9657776, ECO:0000269|PubMed:9990072}.		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.D816Y(46)|p.D816H(42)|p.D816F(6)|p.D816I(2)|p.D816N(1)|p.R815_D816insVI(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)	TCTAGCCAGAGACATCAAGAA	0.393		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.D816Y			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,colon,carcinoma,0,932	KIT	0	932	98	Substitution - Missense(97)|Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(68)|testis(15)|ovary(10)|soft_tissue(3)|genital_tract(1)|skin(1)	c.G2446T												144.0	146.0	145.0					4																	55599320		2203	4300	6503	SO:0001583	missense	3815	exon17	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	GCCAGAGACATCA	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.2446G>T	4.37:g.55599320G>T	ENSP00000288135:p.Asp816Tyr		87	0	0		83	0.12	10	NM_000222	378	0.54	205	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.976091	0.92982	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.83755	-1.76;-1.76	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.87869	0.6286	L	0.39692	1.235	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.65684	0.937;0.919	D	0.88642	0.3176	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	812;816	P10721-2;P10721	.;KIT_HUMAN	Y	816;812	ENSP00000288135:D816Y;ENSP00000390987:D812Y	ENSP00000288135:D816Y	D	+	1	0	KIT	55294077	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GAC			0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000250618.1			
LOC101927237	101927237	broad.mit.edu	37	4	68311813	68311814	+	lincRNA	INS	-	-	ACCGCCACCGCC	rs11267830|rs141262603|rs373609666|rs112837692	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:68311813_68311814insACCGCCACCGCC	ENST00000502400.1	-	0	34																											ccgctaccgctaccgccaccgc	0.639														3662	0.73123	0.5696	0.8012	5008	,	,		12072	0.7927		0.7684	False		,,,				2504	0.7986				.													.	.			0			.																																											0	.			TACCGCTACCGCC																													4.37:g.68311813_68311814insACCGCCACCGCC			4	0	0		6	0.33	2	.	1	0.00	0		RNA	INS	ENST00000502400.1	37																																																																																						0.639	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000361926.2			
BMP2K	55589	mdanderson.org	37	4	79792130	79792130	+	Silent	SNP	A	A	G			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:79792130A>G	ENST00000335016.5	+	11	1591	c.1425A>G	c.(1423-1425)caA>caG	p.Q475Q	BMP2K_ENST00000502871.1_Silent_p.Q475Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	475	Gln/His-rich.			Missing (in Ref. 2; CAB70863). {ECO:0000305}.	regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcagcagcaacagcaacagc	0.522																																					p.Q475Q													.	.			0			c.A1425G												21.0	25.0	24.0					4																	79792130		2054	3974	6028	SO:0001819	synonymous_variant	55589	exon11			GCAGCAACAGCAA	AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1425A>G	4.37:g.79792130A>G			18	0	0		26	0.15	4	NM_017593	7	0.00	0	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Silent	SNP	ENST00000335016.5	37	CCDS47083.1	.	.	.	.	.	.	.	.	.	.	a	2.396	-0.338790	0.05243	.	.	ENSG00000138756	ENST00000502613	.	.	.	0.589	0.589	0.17452	.	.	.	.	.	T	0.53594	0.1806	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	T	0.36817	-0.9732	3	.	.	.	.	.	.	.	.	.	.	.	A	168	.	.	T	+	1	0	BMP2K	80011154	0.993000	0.37304	0.368000	0.25939	0.044000	0.14063	-0.102000	0.10956	-0.619000	0.05648	-1.380000	0.01176	ACA			0.522	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				NM_017593	
DSPP	1834	bcgsc.ca	37	4	88537285	88537285	+	Silent	SNP	C	C	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:88537285C>T	ENST00000282478.7	+	4	3504	c.3471C>T	c.(3469-3471)agC>agT	p.S1157S	DSPP_ENST00000399271.1_Silent_p.S1157S|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1157	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gtgacagcagcgacagcagtg	0.562																																					p.S1157S													.	DSPP	174		0			c.C3471T												46.0	60.0	55.0					4																	88537285		1591	2857	4448	SO:0001819	synonymous_variant	1834	exon5			CAGCAGCGACAGC	AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3471C>T	4.37:g.88537285C>T			129	0.015503876	2		150	0.05	7	NM_014208	0		0	A8MUI0|O95815	Silent	SNP	ENST00000282478.7	37	CCDS43248.1																																																																																					0.562	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000363616.3		NM_014208	
CENPE	1062	broad.mit.edu	37	4	104054015	104054015	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:104054015G>T	ENST00000265148.3	-	42	6848	c.6759C>A	c.(6757-6759)agC>agA	p.S2253R	CENPE_ENST00000380026.3_Missense_Mutation_p.S2132R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2253	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CAGTCTTTATGCTAGGGAACT	0.294																																					p.S2253R													.	CENPE	253		0			c.C6759A												94.0	99.0	97.0					4																	104054015		2202	4294	6496	SO:0001583	missense	1062	exon42			CTTTATGCTAGGG	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6759C>A	4.37:g.104054015G>T	ENSP00000265148:p.Ser2253Arg		165	0	0		201	0.02	5	NM_001813	38	0.00	0	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877152	0.33162	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.68765	-0.35;-0.34	5.36	3.5	0.40072	.	.	.	.	.	T	0.55847	0.1946	L	0.40543	1.245	0.19300	N	0.999971	P;P	0.49961	0.662;0.93	B;B	0.41860	0.299;0.368	T	0.41840	-0.9486	9	0.27082	T	0.32	.	10.5097	0.44855	0.0:0.0:0.6484:0.3516	.	2132;2253	Q02224-3;Q02224	.;CENPE_HUMAN	R	2253;2217;2132	ENSP00000265148:S2253R;ENSP00000369365:S2132R	ENSP00000265148:S2253R	S	-	3	2	CENPE	104273464	0.932000	0.31603	0.960000	0.40013	0.203000	0.24098	0.796000	0.26986	1.378000	0.46305	0.643000	0.83706	AGC			0.294	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					
NAA15	80155	broad.mit.edu	37	4	140264029	140264029	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr4:140264029G>T	ENST00000296543.5	+	5	775	c.452G>T	c.(451-453)tGg>tTg	p.W151L	NAA15_ENST00000480277.2_3'UTR|NAA15_ENST00000398947.1_Missense_Mutation_p.W151L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	151					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAGCATCATGGATTGGTTAT	0.343																																					p.W151L													.	NAA15	88		0			c.G452T												131.0	122.0	125.0					4																	140264029		1856	4118	5974	SO:0001583	missense	80155	exon5			CATCATGGATTGG	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.452G>T	4.37:g.140264029G>T	ENSP00000296543:p.Trp151Leu		188	0	0		190	0.02	4	NM_057175	61	0.00	0	D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.038606	0.93630	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.42131	0.98;0.98	5.25	5.25	0.73442	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.74045	0.3665	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79638	-0.1720	10	0.66056	D	0.02	-6.3142	19.4069	0.94651	0.0:0.0:1.0:0.0	.	151	Q9BXJ9	NAA15_HUMAN	L	151;25;151	ENSP00000296543:W151L;ENSP00000381920:W151L	ENSP00000296543:W151L	W	+	2	0	NAA15	140483479	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.075000	0.94004	2.894000	0.99253	0.591000	0.81541	TGG			0.343	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000267839.2		NM_057175	
RAI14	26064	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	34823512	34823512	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:34823512T>C	ENST00000265109.3	+	15	1852	c.1565T>C	c.(1564-1566)tTc>tCc	p.F522S	RAI14_ENST00000397449.1_Missense_Mutation_p.F515S|RAI14_ENST00000428746.2_Missense_Mutation_p.F522S|RAI14_ENST00000503673.1_Missense_Mutation_p.F522S|RAI14_ENST00000515799.1_Missense_Mutation_p.F525S|RAI14_ENST00000512629.1_Missense_Mutation_p.F493S|RAI14_ENST00000506376.1_Missense_Mutation_p.F514S	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	522						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TATTCACATTTCCACGAGCTG	0.418																																					p.F525S													.	.			0			c.T1574C												64.0	62.0	62.0					5																	34823512		2203	4300	6503	SO:0001583	missense	26064	exon17			CACATTTCCACGA	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1565T>C	5.37:g.34823512T>C	ENSP00000265109:p.Phe522Ser		106	0	0		126	0.10	12	NM_001145525	44	0.50	22	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	T	4.695	0.129309	0.08981	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.32988	1.46;1.43;1.46;1.46;1.46;1.51;1.49	5.64	5.64	0.86602	.	.	.	.	.	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.16335	-1.0406	9	0.20046	T	0.44	-1.0529	11.0176	0.47698	0.1388:0.0:0.0:0.8612	.	514;493;525;522	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	S	522;493;522;522;525;514;515	ENSP00000265109:F522S;ENSP00000422377:F493S;ENSP00000388725:F522S;ENSP00000422942:F522S;ENSP00000427123:F525S;ENSP00000423854:F514S;ENSP00000380591:F515S	ENSP00000265109:F522S	F	+	2	0	RAI14	34859269	0.013000	0.17824	0.011000	0.14972	0.064000	0.16182	2.019000	0.41001	2.160000	0.67779	0.454000	0.30748	TTC			0.418	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366786.1		NM_015577	
IQGAP2	10788	mdanderson.org	37	5	75969834	75969834	+	Silent	SNP	C	C	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:75969834C>A	ENST00000274364.6	+	26	3564	c.3267C>A	c.(3265-3267)ccC>ccA	p.P1089P	IQGAP2_ENST00000502745.1_Silent_p.P585P|IQGAP2_ENST00000379730.3_Silent_p.P591P|IQGAP2_ENST00000396234.3_Silent_p.P585P	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1089	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGAAATTCCCCGATGCAACAG	0.348																																					p.P1089P													IQGAP2,NS,malignant_melanoma,+1,1	IQGAP2	1	1	0			c.C3267A												100.0	99.0	99.0					5																	75969834		2203	4300	6503	SO:0001819	synonymous_variant	10788	exon26			ATTCCCCGATGCA	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3267C>A	5.37:g.75969834C>A			82	0	0		82	0.05	4	NM_006633	35	0.00	0	A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	CCDS34188.1																																																																																					0.348	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368877.1		NM_006633	
SNCAIP	9627	broad.mit.edu	37	5	121758672	121758672	+	Silent	SNP	G	G	A	rs147854746	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:121758672G>A	ENST00000261368.8	+	4	502	c.240G>A	c.(238-240)tcG>tcA	p.S80S	SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Silent_p.S127S|SNCAIP_ENST00000261367.7_Silent_p.S127S|SNCAIP_ENST00000379536.2_Silent_p.S80S|SNCAIP_ENST00000503116.2_Silent_p.S127S|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379538.3_Intron	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	80					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AGCGGGTTTCGCCACTGAAAC	0.483													G|||	3	0.000599042	0.0008	0.0	5008	,	,		17839	0.002		0.0	False		,,,				2504	0.0				p.S80S													SNCAIP_ENST00000503116,NS,malignant_melanoma,+1,3	SNCAIP	308	3	0			c.G240A							G		2,4404	4.2+/-10.8	0,2,2201	63.0	64.0	63.0		240	2.9	1.0	5	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous	SNCAIP	NM_005460.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		80/920	121758672	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9627	exon4			GGTTTCGCCACTG	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.240G>A	5.37:g.121758672G>A			240	0	0		234	0.02	5	NM_005460	1	0.00	0	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	37	CCDS4131.1																																																																																					0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250888.1			
OR2Y1	134083	mdanderson.org	37	5	180166238	180166238	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr5:180166238G>T	ENST00000307832.2	-	1	861	c.821C>A	c.(820-822)gCc>gAc	p.A274D		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATAAAAAAGGGCAACAAATTT	0.428																																					p.A274D													.	.			0			c.C821A												86.0	98.0	94.0					5																	180166238		2203	4300	6503	SO:0001583	missense	134083	exon1			AAAAGGGCAACAA	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.821C>A	5.37:g.180166238G>T	ENSP00000312403:p.Ala274Asp		61	0	0		48	0.06	3	NM_001001657	0		0	B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	16.65	3.181835	0.57800	.	.	ENSG00000174339	ENST00000307832	T	0.00198	8.57	4.41	4.41	0.53225	GPCR, rhodopsin-like superfamily (1);	0.514144	0.16252	N	0.222662	T	0.00724	0.0024	M	0.88450	2.955	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.41448	-0.9508	10	0.87932	D	0	.	14.873	0.70474	0.0:0.0:1.0:0.0	.	274	Q8NGV0	OR2Y1_HUMAN	D	274	ENSP00000312403:A274D	ENSP00000312403:A274D	A	-	2	0	OR2Y1	180098844	0.853000	0.29707	0.204000	0.23530	0.003000	0.03518	5.043000	0.64208	2.432000	0.82394	0.511000	0.50034	GCC			0.428	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000368059.2		XM_068682	
HIST1H2BO	8348	mdanderson.org	37	6	27861278	27861278	+	Missense_Mutation	SNP	A	A	G	rs577930162		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr6:27861278A>G	ENST00000303806.4	+	1	76	c.38A>G	c.(37-39)aAg>aGg	p.K13R	HIST1H2AM_ENST00000359611.2_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H3J_ENST00000479986.1_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										GCCCCCAAAAAGGGCTCCAAG	0.527													A|||	1	0.000199681	0.0	0.0	5008	,	,		17449	0.0		0.0	False		,,,				2504	0.001				p.K13R													.	.			0			c.A38G												59.0	63.0	62.0					6																	27861278		2203	4300	6503	SO:0001583	missense	8348	exon1			CCAAAAAGGGCTC	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.38A>G	6.37:g.27861278A>G	ENSP00000303408:p.Lys13Arg		86	0	0		54	0.06	3	NM_003527	3	0.00	0	Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.312724	0.40895	.	.	ENSG00000196331	ENST00000303806	T	0.25250	1.81	3.7	3.7	0.42460	Histone-fold (2);	.	.	.	.	T	0.13713	0.0332	M	0.76574	2.34	0.37971	D	0.933296	P	0.41673	0.759	B	0.27500	0.08	T	0.13845	-1.0494	9	0.59425	D	0.04	.	12.181	0.54211	1.0:0.0:0.0:0.0	.	13	P23527	H2B1O_HUMAN	R	13	ENSP00000303408:K13R	ENSP00000303408:K13R	K	+	2	0	HIST1H2BO	27969257	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	8.674000	0.91191	1.910000	0.55303	0.459000	0.35465	AAG			0.527	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040161.1		NM_003527	
TSPYL4	23270	mdanderson.org	37	6	116574167	116574167	+	Silent	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr6:116574167G>T	ENST00000420283.1	-	1	1094	c.1005C>A	c.(1003-1005)ggC>ggA	p.G335G	RP3-486I3.7_ENST00000448740.2_lincRNA|DSE_ENST00000540275.1_5'Flank	NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	335					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GGGGGTCTTGGCCTCGGTGCC	0.527																																					p.G335G													.	.			0			c.C1005A												80.0	79.0	79.0					6																	116574167		1929	4152	6081	SO:0001819	synonymous_variant	23270	exon1			GTCTTGGCCTCGG		CCDS5106.1	6q22.1	2010-05-12			ENSG00000187189	ENSG00000187189			21559	protein-coding gene	gene with protein product							Standard	NM_021648		Approved	dJ486I3.2, KIAA0721	uc003pwn.3	Q9UJ04	OTTHUMG00000015429	ENST00000420283.1:c.1005C>A	6.37:g.116574167G>T			151	0	0		138	0.04	5	NM_021648	57	0.00	0	B4DYQ2|O94828|Q96GW8	Silent	SNP	ENST00000420283.1	37	CCDS5106.1																																																																																					0.527	TSPYL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041934.2			
IRF5	3663	mdanderson.org	37	7	128588820	128588820	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr7:128588820G>T	ENST00000402030.2	+	9	1517	c.1445G>T	c.(1444-1446)gGc>gTc	p.G482V	IRF5_ENST00000473745.1_Missense_Mutation_p.G482V|IRF5_ENST00000249375.4_Missense_Mutation_p.G482V|IRF5_ENST00000477535.1_Missense_Mutation_p.G396V|IRF5_ENST00000357234.5_Missense_Mutation_p.G498V	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	482					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						CCTGGAGCAGGCCTTGGTGTT	0.642																																					p.G498V													.	.			0			c.G1493T												54.0	57.0	56.0					7																	128588820		2203	4300	6503	SO:0001583	missense	3663	exon9			GAGCAGGCCTTGG		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.1445G>T	7.37:g.128588820G>T	ENSP00000385352:p.Gly482Val		45	0	0		37	0.08	3	NM_001098629	58	0.00	0	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Missense_Mutation	SNP	ENST00000402030.2	37	CCDS5808.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450617	0.43531	.	.	ENSG00000128604	ENST00000357234;ENST00000477535;ENST00000402030;ENST00000249375;ENST00000473745;ENST00000412326	D;D;D;D;D	0.97505	-4.4;-4.37;-4.41;-4.41;-4.41	5.26	3.4	0.38934	.	1.047640	0.07534	N	0.912694	D	0.93743	0.8000	L	0.36672	1.1	0.41426	D	0.987837	B;P;P	0.45902	0.18;0.868;0.763	B;B;B	0.39876	0.056;0.312;0.293	D	0.88112	0.2826	10	0.72032	D	0.01	-0.1384	5.505	0.16848	0.1768:0.1664:0.6568:0.0	.	396;482;498	E7EW54;Q13568;Q13568-2	.;IRF5_HUMAN;.	V	498;396;482;482;482;472	ENSP00000349770:G498V;ENSP00000419950:G396V;ENSP00000385352:G482V;ENSP00000249375:G482V;ENSP00000419149:G482V	ENSP00000249375:G482V	G	+	2	0	IRF5	128376056	0.001000	0.12720	0.151000	0.22473	0.587000	0.36485	0.505000	0.22642	0.660000	0.30964	0.655000	0.94253	GGC			0.642	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350934.1		NM_001098627	
PIGO	84720	mdanderson.org	37	9	35090665	35090665	+	Silent	SNP	A	A	G			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:35090665A>G	ENST00000378617.3	-	8	3046	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	PIGO_ENST00000361778.2_Silent_p.P467P|PIGO_ENST00000341666.3_Silent_p.P884P|PIGO_ENST00000298004.5_Silent_p.P467P	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	884				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8; BAB89338). {ECO:0000305}.	C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCACAGTAAAAGGACCTGGAA	0.498																																					p.P884P													.	.			0			c.T2652C												52.0	51.0	51.0					9																	35090665		2203	4300	6503	SO:0001819	synonymous_variant	84720	exon8			AGTAAAAGGACCT	AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2652T>C	9.37:g.35090665A>G			41	0	0		55	0.05	3	NM_032634	93	0.00	0	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Silent	SNP	ENST00000378617.3	37	CCDS6575.1																																																																																					0.498	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000052284.1		NM_032634	
AKAP2	11217	mdanderson.org	37	9	112899361	112899361	+	Nonsense_Mutation	SNP	A	A	T	rs4978872	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:112899361A>T	ENST00000259318.7	+	2	1051	c.844A>T	c.(844-846)Aag>Tag	p.K282*	AKAP2_ENST00000555236.1_Nonsense_Mutation_p.K513*|PALM2-AKAP2_ENST00000302798.7_Nonsense_Mutation_p.K513*|AKAP2_ENST00000374525.1_Nonsense_Mutation_p.K371*|AKAP2_ENST00000434623.2_Nonsense_Mutation_p.K371*|AKAP2_ENST00000510514.5_Nonsense_Mutation_p.K513*|PALM2-AKAP2_ENST00000374530.3_Nonsense_Mutation_p.K513*	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	282				K -> Q (in Ref. 3; BAG51862/BAG62154 and 6; AAI46864/AAI71800). {ECO:0000305}.						breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						gctgctgcagaagcagttaca	0.552																																					p.K513X													.	.			0			c.A1537T												16.0	17.0	17.0					9																	112899361		2200	4297	6497	SO:0001587	stop_gained	445815	exon8			CTGCAGAAGCAGT	AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.844A>T	9.37:g.112899361A>T	ENSP00000259318:p.Lys282*		98	0	0		96	0.03	3	NM_007203	11	0.00	0	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Nonsense_Mutation	SNP	ENST00000259318.7	37	CCDS48003.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156686	0.57259	.	.	ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978;ENSG00000241978	ENST00000374530;ENST00000302798;ENST00000555236;ENST00000510514;ENST00000434623;ENST00000374525;ENST00000480388;ENST00000259318	.	.	.	5.23	5.23	0.72850	.	0.281421	0.29631	N	0.011602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-9.2901	13.1535	0.59503	0.1603:0.8397:0.0:0.0	.	.	.	.	X	513;513;513;513;371;371;331;282	.	ENSP00000259318:K282X	K	+	1	0	PALM2-AKAP2;AKAP2	111939182	0.880000	0.30214	0.586000	0.28679	0.177000	0.22998	2.142000	0.42177	1.351000	0.45789	-0.121000	0.15023	AAG			0.552	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000346067.3		NM_001004065	
SETX	23064	mdanderson.org	37	9	135152534	135152534	+	Missense_Mutation	SNP	G	G	T	rs398124286		TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:135152534G>T	ENST00000224140.5	-	22	7030	c.6848C>A	c.(6847-6849)aCa>aAa	p.T2283K	SETX_ENST00000393220.1_Missense_Mutation_p.T2283K|SETX_ENST00000477049.1_5'Flank|SETX_ENST00000372169.2_Missense_Mutation_p.T2283K	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2283					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AATGGCTTCTGTCTGTCTGTA	0.358																																					p.T2283K													.	.			0			c.C6848A												101.0	90.0	94.0					9																	135152534		2203	4300	6503	SO:0001583	missense	23064	exon22			GCTTCTGTCTGTC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6848C>A	9.37:g.135152534G>T	ENSP00000224140:p.Thr2283Lys		57	0.0526315789	3		52	0.08	4	NM_015046	68	0.00	0	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930797	0.52866	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	6.17	6.17	0.99709	.	0.071005	0.64402	D	0.000008	D	0.95066	0.8402	L	0.61036	1.89	0.49051	D	0.999747	D;D;D	0.76494	0.958;0.999;0.993	P;D;D	0.74674	0.754;0.984;0.929	D	0.94770	0.7944	10	0.72032	D	0.01	.	14.9696	0.71223	0.0694:0.0:0.9306:0.0	.	2283;2283;2283	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	K	2283;525;2283;2283	ENSP00000224140:T2283K;ENSP00000409143:T525K;ENSP00000361242:T2283K;ENSP00000376913:T2283K	ENSP00000224140:T2283K	T	-	2	0	SETX	134142355	1.000000	0.71417	0.831000	0.32960	0.058000	0.15608	4.540000	0.60664	2.941000	0.99782	0.655000	0.94253	ACA			0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054774.3		NM_015046	
MRPS2	51116	mdanderson.org	37	9	138392585	138392585	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:138392585G>A	ENST00000371785.1	+	2	238	c.29G>A	c.(28-30)cGa>cAa	p.R10Q	C9orf116_ENST00000371789.3_5'Flank|RP11-426A6.5_ENST00000415062.1_RNA|MRPS2_ENST00000488610.1_3'UTR|C9orf116_ENST00000371791.1_Intron|MRPS2_ENST00000241600.5_Missense_Mutation_p.R10Q|C9orf116_ENST00000429260.2_5'Flank			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	10					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	structural constituent of ribosome (GO:0003735)			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GCGCTGCCCCGAATACTCGGC	0.751																																					p.R10Q													.	.			0			c.G29A												4.0	5.0	4.0					9																	138392585		1883	3805	5688	SO:0001583	missense	51116	exon1			TGCCCCGAATACT	AB051627	CCDS6990.1	9q34	2012-09-13			ENSG00000122140	ENSG00000122140		"""Mitochondrial ribosomal proteins / small subunits"""	14495	protein-coding gene	gene with protein product		611971					Standard	NM_016034		Approved	CGI-91	uc004cfv.5	Q9Y399	OTTHUMG00000020910	ENST00000371785.1:c.29G>A	9.37:g.138392585G>A	ENSP00000360850:p.Arg10Gln		27	0	0		23	0.09	2	NM_016034	105	0.00	0	Q5T899|Q9BSQ4	Missense_Mutation	SNP	ENST00000371785.1	37	CCDS6990.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495496	0.44352	.	.	ENSG00000122140	ENST00000371785;ENST00000241600	T;T	0.25749	1.78;1.78	3.17	2.26	0.28386	.	1.050270	0.07583	N	0.920695	T	0.24236	0.0587	L	0.53249	1.67	0.09310	N	1	B	0.25955	0.138	B	0.14578	0.011	T	0.26467	-1.0102	10	0.62326	D	0.03	-7.1171	6.7124	0.23284	0.1448:0.0:0.8552:0.0	.	10	Q9Y399	RT02_HUMAN	Q	10	ENSP00000360850:R10Q;ENSP00000241600:R10Q	ENSP00000241600:R10Q	R	+	2	0	MRPS2	137532406	0.215000	0.23574	0.001000	0.08648	0.007000	0.05969	1.828000	0.39111	0.637000	0.30526	0.491000	0.48974	CGA			0.751	MRPS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054998.1			
OBP2A	29991	mdanderson.org	37	9	138441166	138441166	+	Missense_Mutation	SNP	T	T	C	rs117518871	byFrequency	TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chr9:138441166T>C	ENST00000539850.1	+	6	529	c.503T>C	c.(502-504)cTc>cCc	p.L168P	OBP2A_ENST00000340780.3_Missense_Mutation_p.S190P|OBP2A_ENST00000371776.1_Missense_Mutation_p.L168P|OBP2A_ENST00000342114.4_Missense_Mutation_p.L145P			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	168					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		AGCTGCGTTCTCGAACACTAG	0.612																																					p.L168P													.	.			0			c.T503C												106.0	119.0	115.0					9																	138441166		2055	4242	6297	SO:0001583	missense	29991	exon6			GCGTTCTCGAACA	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.503T>C	9.37:g.138441166T>C	ENSP00000441028:p.Leu168Pro		61	0	0		58	0.07	4	NM_014582	0		0	Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	CCDS6992.1	560|560	0.2564102564102564|0.2564102564102564	135|135	0.27439024390243905|0.27439024390243905	86|86	0.23756906077348067|0.23756906077348067	144|144	0.2517482517482518|0.2517482517482518	195|195	0.25725593667546176|0.25725593667546176	c|c	0.005|0.005	-2.232045|-2.232045	0.00280|0.00280	.|.	.|.	ENSG00000122136|ENSG00000122136	ENST00000342114;ENST00000371776;ENST00000539850|ENST00000340780	T;T;T|T	0.18960|0.30714	2.18;2.65;2.65|1.52	1.57|1.57	0.514|0.514	0.17007|0.17007	.|.	.|1.687820	.|0.03792	.|N	.|0.263116	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.00106|0.00106	-2.12|-2.12	0.80722|0.80722	P|P	0.0|0.0	B;B|B	0.02656|0.02656	0.0;0.0|0.0	B;B|B	0.01281|0.01281	0.0;0.0|0.0	T|T	0.28299|0.28299	-1.0048|-1.0048	7|9	.|0.23302	.|T	.|0.38	0.0361|0.0361	2.1517|2.1517	0.03801|0.03801	0.3026:0.4923:0.0:0.2051|0.3026:0.4923:0.0:0.2051	.|.	145;168|190	Q5T8A4;Q9NY56|Q5T8A5	.;OBP2A_HUMAN|.	P|P	145;168;168|190	ENSP00000340950:L145P;ENSP00000360841:L168P;ENSP00000441028:L168P|ENSP00000342097:S190P	.|ENSP00000342097:S190P	L|S	+|+	2|1	0|0	OBP2A|OBP2A	137580987|137580987	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.005000|0.005000	0.04900|0.04900	0.002000|0.002000	0.13061|0.13061	-0.169000|-0.169000	0.10834|0.10834	-0.701000|-0.701000	0.03672|0.03672	CTC|TCG			0.612	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000397904.1		NM_014582	
CXorf36	79742	mdanderson.org	37	X	45017126	45017126	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:45017126G>T	ENST00000398000.2	-	3	580	c.506C>A	c.(505-507)gCc>gAc	p.A169D	CXorf36_ENST00000477281.1_Intron	NM_176819.3	NP_789789.2	Q9H7Y0	DIA1R_HUMAN	chromosome X open reading frame 36	169						extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|lung(4)	7						GAGCGGGCTGGCCAGGCCCTA	0.677																																					p.A169D													.	.			0			c.C506A												11.0	10.0	10.0					X																	45017126		1479	3397	4876	SO:0001583	missense	79742	exon3			GGGCTGGCCAGGC	AF289581	CCDS14266.1, CCDS48096.1	Xp11.3-p11.23	2012-08-03			ENSG00000147113	ENSG00000147113			25866	protein-coding gene	gene with protein product						11944989, 21283809	Standard	NM_176819		Approved	FLJ14103, DIA1R	uc004dgg.2	Q9H7Y0	OTTHUMG00000021403	ENST00000398000.2:c.506C>A	X.37:g.45017126G>T	ENSP00000381086:p.Ala169Asp		36	0	0		35	0.09	3	NM_176819	7	0.00	0	A8MUU5|B2RPN7|Q6UWJ5	Missense_Mutation	SNP	ENST00000398000.2	37	CCDS48096.1	.	.	.	.	.	.	.	.	.	.	G	8.966	0.971765	0.18736	.	.	ENSG00000147113	ENST00000398000	T	0.30182	1.54	4.81	4.81	0.61882	.	0.478535	0.20861	N	0.084355	T	0.19927	0.0479	N	0.14661	0.345	0.80722	D	1	B	0.22146	0.065	B	0.16289	0.015	T	0.04373	-1.0956	10	0.49607	T	0.09	.	13.603	0.62031	0.0:0.1525:0.8475:0.0	.	169	Q9H7Y0	CX036_HUMAN	D	169	ENSP00000381086:A169D	ENSP00000381086:A169D	A	-	2	0	CXorf36	44902070	1.000000	0.71417	0.994000	0.49952	0.179000	0.23085	4.561000	0.60809	1.972000	0.57404	0.436000	0.28706	GCC			0.677	CXorf36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056333.2		NM_024689	
GRIPAP1	56850	broad.mit.edu	37	X	48839806	48839806	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:48839806G>T	ENST00000376441.1	-	16	1353	c.1319C>A	c.(1318-1320)aCg>aAg	p.T440K	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.T387K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.T395K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.T409K	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	440						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTCTTGCAGCGTTTCCATTGC	0.582																																					p.T440K													.	GRIPAP1	128		0			c.C1319A												123.0	93.0	103.0					X																	48839806		2203	4300	6503	SO:0001583	missense	56850	exon16			TGCAGCGTTTCCA	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1319C>A	X.37:g.48839806G>T	ENSP00000365624:p.Thr440Lys		59	0.0338983051	2		62	0.05	3	NM_020137	133	0.00	0	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	0.085	-1.176890	0.01646	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	4.29	2.5	0.30297	.	0.504375	0.19134	N	0.121862	T	0.10252	0.0251	N	0.14661	0.345	0.20764	N	0.999856	B;P;B	0.35226	0.045;0.491;0.151	B;B;B	0.33960	0.035;0.173;0.04	T	0.29088	-1.0023	10	0.20519	T	0.43	0.0033	7.3553	0.26714	0.2991:0.0:0.7009:0.0	.	387;330;440	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	K	409;395;440;409;387	ENSP00000365608:T409K;ENSP00000365627:T395K;ENSP00000365624:T440K;ENSP00000365606:T387K	ENSP00000365606:T387K	T	-	2	0	GRIPAP1	48724750	0.999000	0.42202	0.064000	0.19789	0.034000	0.12701	2.999000	0.49473	0.172000	0.19760	-0.462000	0.05337	ACG			0.582	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080970.2		NM_207672	
BCORL1	63035	broad.mit.edu	37	X	129148078	129148078	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAF1-01A-11D-A42Y-10	TCGA-2G-AAF1-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	f38df192-f4ad-456a-9d0b-99441d9cbb8e	1ff85e50-57f2-47c5-a2d2-3c5b3d907a8f	g.chrX:129148078A>C	ENST00000218147.7	+	4	1527	c.1330A>C	c.(1330-1332)Acc>Ccc	p.T444P	BCORL1_ENST00000540052.1_Missense_Mutation_p.T444P|BCORL1_ENST00000303743.5_Missense_Mutation_p.T444P|BCORL1_ENST00000359304.2_Missense_Mutation_p.T444P			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	444	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GACAGTGCTGACCCCGAGCCA	0.582																																					p.T444P													.	BCORL1	213		0			c.A1330C												42.0	38.0	39.0					X																	129148078		2203	4300	6503	SO:0001583	missense	63035	exon3			GTGCTGACCCCGA	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1330A>C	X.37:g.129148078A>C	ENSP00000218147:p.Thr444Pro		66	0.2272727273	15		63	0.25	16	NM_021946	7	0.00	0	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.049447	0.55218	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	T;T;T;T;T	0.45276	0.91;1.28;0.9;0.91;1.35	5.8	4.44	0.53790	.	0.000000	0.37809	N	0.001939	T	0.36880	0.0983	N	0.14661	0.345	0.28965	N	0.889624	D;P	0.63880	0.993;0.915	P;B	0.59889	0.865;0.374	T	0.15263	-1.0443	10	0.34782	T	0.22	-16.8894	6.7073	0.23258	0.7745:0.0:0.0844:0.141	.	444;444	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	P	444;444;444;444;44	ENSP00000218147:T444P;ENSP00000307541:T444P;ENSP00000352253:T444P;ENSP00000437775:T444P;ENSP00000399483:T44P	ENSP00000218147:T444P	T	+	1	0	BCORL1	128975759	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.411000	0.44600	1.960000	0.56953	0.430000	0.28490	ACC			0.582	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058223.1		NM_021946	
