#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
C1orf68	100129271	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	152692487	152692487	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr1:152692487G>T	ENST00000368775.2	+	1	490	c.490G>T	c.(490-492)Gct>Tct	p.A164S		NM_001024679.2	NP_001019850.1	Q5T750	XP32_HUMAN	chromosome 1 open reading frame 68	164	Cys-rich.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|lung(2)|prostate(1)|stomach(3)	8						CCCATGCTCTGCTCCCTGTTC	0.582																																					p.A164S													.	.			0			c.G490T												93.0	87.0	89.0					1																	152692487		692	1591	2283	SO:0001583	missense	100129271	exon1			TGCTCTGCTCCCT	AF005081	CCDS44226.1	1q21.3	2014-05-30			ENSG00000198854	ENSG00000198854			29468	protein-coding gene	gene with protein product						11698679	Standard	NM_001024679		Approved	LEP7	uc010pdu.2	Q5T750	OTTHUMG00000012401	ENST00000368775.2:c.490G>T	1.37:g.152692487G>T	ENSP00000357764:p.Ala164Ser		163	0	0		176	0.13	22	NM_001024679	0		0	O14634	Missense_Mutation	SNP	ENST00000368775.2	37	CCDS44226.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.240004	0.39598	.	.	ENSG00000198854	ENST00000362017;ENST00000368775	T;T	0.26067	1.76;1.76	5.08	4.1	0.47936	.	0.000000	0.40469	N	0.001089	T	0.06325	0.0163	L	0.40543	1.245	0.27188	N	0.960494	P	0.40332	0.713	B	0.36464	0.225	T	0.24190	-1.0167	10	0.05833	T	0.94	-13.874	10.329	0.43812	0.0:0.0:0.804:0.196	.	164	Q5T750	XP32_HUMAN	S	164	ENSP00000354769:A164S;ENSP00000357764:A164S	ENSP00000354769:A164S	A	+	1	0	C1orf68	150959111	1.000000	0.71417	0.999000	0.59377	0.826000	0.46750	2.811000	0.47986	2.564000	0.86499	0.555000	0.69702	GCT			0.582	C1orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000034521.2		NM_001024679	
MUC6	4588	bcgsc.ca	37	11	1016908	1016908	+	Missense_Mutation	SNP	G	G	T	rs79018624		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:1016908G>T	ENST00000421673.2	-	31	5943	c.5893C>A	c.(5893-5895)Ccc>Acc	p.P1965T		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1965	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTGAAGGGTGTGGGTAGC	0.587																																					p.P1965T													.	MUC6	408		0			c.C5893A												828.0	844.0	838.0					11																	1016908		2203	4297	6500	SO:0001583	missense	4588	exon31			TGAAGGGTGTGGG	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5893C>A	11.37:g.1016908G>T	ENSP00000406861:p.Pro1965Thr		314	0.0191082803	6		196	0.04	8	NM_005961	0		0	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057473	0.19907	.	.	ENSG00000184956	ENST00000421673	T	0.57595	0.39	3.12	-0.333	0.12671	.	.	.	.	.	T	0.30510	0.0767	L	0.44542	1.39	0.09310	N	1	B	0.34290	0.447	B	0.29440	0.102	T	0.25916	-1.0118	9	0.02654	T	1	.	3.2717	0.06884	0.1091:0.1689:0.5489:0.173	.	1965	Q6W4X9	MUC6_HUMAN	T	1965	ENSP00000406861:P1965T	ENSP00000406861:P1965T	P	-	1	0	MUC6	1006908	0.000000	0.05858	0.000000	0.03702	0.060000	0.15804	-1.369000	0.02578	-0.159000	0.11021	0.313000	0.20887	CCC			0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000382120.2		XM_290540	
KCNJ11	3767	mdanderson.org	37	11	17409231	17409231	+	Silent	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:17409231G>T	ENST00000339994.4	-	1	975	c.408C>A	c.(406-408)cgC>cgA	p.R136R	KCNJ11_ENST00000528731.1_Silent_p.R49R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	136			R -> L (in HHF2). {ECO:0000269|PubMed:15562009, ECO:0000269|PubMed:16357843}.		cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CAGTCACCATGCGCCCCCCAA	0.562																																					p.R136R													.	.			0			c.C408A												120.0	94.0	103.0					11																	17409231		2200	4293	6493	SO:0001819	synonymous_variant	3767	exon1			CACCATGCGCCCC	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.408C>A	11.37:g.17409231G>T			72	0	0		39	0.08	3	NM_000525	0		0	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	3.558	-0.090214	0.07053	.	.	ENSG00000187486	ENST00000528992	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	T	0.64821	0.2633	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63510	-0.6621	4	.	.	.	.	13.1272	0.59363	0.0:0.0:0.8399:0.1601	.	.	.	.	E	142	.	.	A	-	2	0	KCNJ11	17365807	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.472000	0.35376	2.281000	0.76405	0.462000	0.41574	GCA			0.562	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000387037.1		NM_000525	
DGKZ	8525	mdanderson.org	37	11	46400583	46400583	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:46400583G>T	ENST00000454345.1	+	29	3150	c.3025G>T	c.(3025-3027)Gac>Tac	p.D1009Y	MDK_ENST00000359803.3_5'Flank|MDK_ENST00000395565.1_5'Flank|MDK_ENST00000395566.4_5'Flank|DGKZ_ENST00000421244.2_Missense_Mutation_p.D821Y|DGKZ_ENST00000318201.8_Missense_Mutation_p.D798Y|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000528615.1_Missense_Mutation_p.D599Y|DGKZ_ENST00000532868.2_Missense_Mutation_p.D825Y|DGKZ_ENST00000343674.6_Missense_Mutation_p.D837Y|DGKZ_ENST00000395574.3_Missense_Mutation_p.D787Y|MDK_ENST00000407067.1_5'Flank|DGKZ_ENST00000543978.1_Missense_Mutation_p.D173Y|MDK_ENST00000405308.2_5'Flank|MDK_ENST00000395569.4_5'Flank|DGKZ_ENST00000456247.2_Missense_Mutation_p.D820Y|DGKZ_ENST00000527911.1_Missense_Mutation_p.D821Y	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	1009					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CATGCACCGAGACGAGCAGAG	0.682																																					p.D1009Y													.	.			0			c.G3025T												23.0	22.0	22.0					11																	46400583		2198	4290	6488	SO:0001583	missense	8525	exon29			CACCGAGACGAGC	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.3025G>T	11.37:g.46400583G>T	ENSP00000412178:p.Asp1009Tyr		21	0	0		17	0.12	2	NM_001105540	344	0.00	0	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831519	0.71258	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000543978;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99;0.19;-0.99;-0.99;-0.99;-0.99;-0.99	4.09	4.09	0.47781	Ankyrin repeat-containing domain (3);	0.053258	0.64402	D	0.000001	D	0.88727	0.6515	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D;D	0.76494	0.997;0.998;0.999;0.994;0.996;0.999;0.998;0.997	P;D;D;P;D;D;D;P	0.70716	0.897;0.933;0.933;0.897;0.952;0.97;0.933;0.897	D	0.91676	0.5354	10	0.66056	D	0.02	.	16.4599	0.84033	0.0:0.0:1.0:0.0	.	798;786;821;1009;820;821;787;837	B7Z2M9;B7Z6M3;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;DGKZ_HUMAN;.;.;.;.	Y	837;599;787;786;173;821;820;821;798;1009	ENSP00000343065:D837Y;ENSP00000434719:D599Y;ENSP00000378941:D787Y;ENSP00000436273:D786Y;ENSP00000438417:D173Y;ENSP00000436291:D821Y;ENSP00000395684:D820Y;ENSP00000391021:D821Y;ENSP00000320340:D798Y;ENSP00000412178:D1009Y	ENSP00000320340:D798Y	D	+	1	0	DGKZ	46357159	1.000000	0.71417	0.400000	0.26346	0.474000	0.32979	9.476000	0.97823	2.305000	0.77605	0.561000	0.74099	GAC			0.682	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000389772.1		NM_001105540	
C1QTNF4	114900	mdanderson.org	37	11	47612009	47612009	+	Silent	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:47612009G>T	ENST00000302514.3	-	2	870	c.354C>A	c.(352-354)gcC>gcA	p.A118A		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	118	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CGCTCTGGCTGGCTGCGCGCC	0.726																																					p.A118A													.	.			0			c.C354A												2.0	2.0	2.0					11																	47612009		1442	3035	4477	SO:0001819	synonymous_variant	114900	exon2			CTGGCTGGCTGCG	AF329838	CCDS7942.1	11q11	2008-07-18				ENSG00000172247			14346	protein-coding gene	gene with protein product	"""complement-c1q tumor necrosis factor-related protein 4"""	614911				16094384	Standard	NM_031909		Approved	CTRP4, ZACRP4	uc001ngc.2	Q9BXJ3		ENST00000302514.3:c.354C>A	11.37:g.47612009G>T			26	0	0		15	0.13	2	NM_031909	6	0.00	0	Q8IV25	Silent	SNP	ENST00000302514.3	37	CCDS7942.1																																																																																					0.726	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000391772.1		NM_031909	
P2RX3	5024	mdanderson.org	37	11	57114905	57114905	+	Missense_Mutation	SNP	G	G	T	rs146469943		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:57114905G>T	ENST00000263314.2	+	4	378	c.344G>T	c.(343-345)cGc>cTc	p.R115L		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	115					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						GAGAAATACCGCTGTGTATCA	0.612																																					p.R115L													.	.			0			c.G344T												44.0	34.0	37.0					11																	57114905		2187	4261	6448	SO:0001583	missense	5024	exon4			AATACCGCTGTGT	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.344G>T	11.37:g.57114905G>T	ENSP00000263314:p.Arg115Leu		39	0	0		36	0.08	3	NM_002559	1	0.00	0	Q6DK37|Q9UQB6	Missense_Mutation	SNP	ENST00000263314.2	37	CCDS7953.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.680647	0.29872	.	.	ENSG00000109991	ENST00000439993;ENST00000263314	T	0.04049	3.72	5.39	-1.27	0.09347	.	0.747973	0.13589	N	0.376791	T	0.02494	0.0076	N	0.15975	0.35	0.30316	N	0.788073	B	0.22746	0.074	B	0.24701	0.055	T	0.44174	-0.9345	10	0.20519	T	0.43	-10.3836	4.9946	0.14231	0.4686:0.1694:0.362:0.0	.	115	P56373	P2RX3_HUMAN	L	115	ENSP00000263314:R115L	ENSP00000263314:R115L	R	+	2	0	P2RX3	56871481	0.727000	0.28069	0.995000	0.50966	0.632000	0.37999	0.274000	0.18680	0.029000	0.15352	-0.224000	0.12420	CGC			0.612	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392465.1		NM_002559	
EEF1G	1937	mdanderson.org	37	11	62341310	62341310	+	Missense_Mutation	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:62341310G>A	ENST00000329251.4	-	1	135	c.5C>T	c.(4-6)gCg>gTg	p.A2V	MIR3654_ENST00000496634.2_3'UTR|EEF1G_ENST00000378019.3_Intron|EEF1G_ENST00000532986.1_Intron	NM_001404.4	NP_001395.1	P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	2	GST N-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to virus (GO:0009615)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	translation elongation factor activity (GO:0003746)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACCCCAGCCGCCATGGTGAT	0.627																																					p.A2V													.	.			0			c.C5T												31.0	38.0	36.0					11																	62341310		1901	4099	6000	SO:0001583	missense	1937	exon1			CCAGCCGCCATGG	X63526	CCDS44626.1	11q12.3	2008-02-05			ENSG00000254772	ENSG00000254772			3213	protein-coding gene	gene with protein product		130593				1598220, 1461723	Standard	NM_001404		Approved	EF1G	uc001ntm.1	P26641	OTTHUMG00000167567	ENST00000329251.4:c.5C>T	11.37:g.62341310G>A	ENSP00000331901:p.Ala2Val		31	0	0		22	0.14	3	NM_001404	835	0.00	0	B4DTG2|Q6PJ62|Q6PK31|Q96CU2|Q9P196	Missense_Mutation	SNP	ENST00000329251.4	37	CCDS44626.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535589	0.85812	.	.	ENSG00000254772	ENST00000329251	T	0.25749	1.78	5.02	5.02	0.67125	Glutathione S-transferase, N-terminal (1);Thioredoxin-like fold (2);	.	.	.	.	T	0.21145	0.0509	N	0.19112	0.55	0.80722	D	1	D	0.55385	0.971	P	0.46362	0.514	T	0.01500	-1.1339	9	0.33141	T	0.24	.	14.1882	0.65620	0.0:0.0:1.0:0.0	.	2	P26641	EF1G_HUMAN	V	2	ENSP00000331901:A2V	ENSP00000331901:A2V	A	-	2	0	EEF1G	62097886	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.271000	0.43364	2.491000	0.84063	0.563000	0.77884	GCG			0.627	EEF1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000395047.1		NM_001404	
VEGFB	7423	broad.mit.edu	37	11	64005048	64005048	+	Silent	SNP	A	A	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:64005048A>C	ENST00000309422.2	+	6	863	c.567A>C	c.(565-567)ggA>ggC	p.G189G	VEGFB_ENST00000426086.2_Missense_Mutation_p.T156P	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	189					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACCCCCGGACCTGCCGCTG	0.711																																					p.T156P													.	VEGFB	18		0			c.A466C												7.0	8.0	8.0					11																	64005048		2097	4151	6248	SO:0001819	synonymous_variant	7423	exon6			CCCCGGACCTGCC	BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.567A>C	11.37:g.64005048A>C			31	0.2258064516	7		33	0.30	10	NM_001243733	120	0.05	6	Q16528	Missense_Mutation	SNP	ENST00000309422.2	37	CCDS8062.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.54|15.54	2.863730|2.863730	0.51482|0.51482	.|.	.|.	ENSG00000173511|ENSG00000173511	ENST00000541681|ENST00000426086	.|.	.|.	.|.	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|.	.|.	.|.	.|.	T|T	0.58666|0.58666	0.2138|0.2138	.|.	.|.	.|.	0.19775|0.19775	N|N	0.99995|0.99995	.|D	.|0.71674	.|0.998	.|D	.|0.68943	.|0.961	T|T	0.51718|0.51718	-0.8670|-0.8670	4|7	.|0.87932	.|D	.|0	-0.3664|-0.3664	8.2815|8.2815	0.31902|0.31902	0.8235:0.0:0.0:0.1765|0.8235:0.0:0.0:0.1765	.|.	.|156	.|P49765-2	.|.	A|P	14|156	.|.	.|ENSP00000401550:T156P	D|T	+|+	2|1	0|0	VEGFB|VEGFB	63761624|63761624	0.973000|0.973000	0.33851|0.33851	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	1.485000|1.485000	0.35519|0.35519	1.973000|1.973000	0.57446|0.57446	0.459000|0.459000	0.35465|0.35465	GAC|ACC			0.711	VEGFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000396393.2		NM_003377	
SF1	7536	mdanderson.org	37	11	64535590	64535590	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:64535590G>T	ENST00000377390.3	-	9	1393	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K	SF1_ENST00000422298.2_Missense_Mutation_p.N237K|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000334944.5_Missense_Mutation_p.N352K|SF1_ENST00000227503.9_Missense_Mutation_p.N352K|SF1_ENST00000377387.1_Missense_Mutation_p.N477K|SF1_ENST00000377394.3_Missense_Mutation_p.N352K|SF1_ENST00000433274.2_Missense_Mutation_p.N326K	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	352	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTGGAGGTGGGTTGTTGGCGG	0.642											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N477K													.	.			0			c.C1431A												45.0	47.0	46.0					11																	64535590		2201	4297	6498	SO:0001583	missense	7536	exon9			AGGTGGGTTGTTG	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1056C>A	11.37:g.64535590G>T	ENSP00000366607:p.Asn352Lys		31	0	0	1077	31	0.10	3	NM_001178030	619	0.00	0	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	13.20	2.167088	0.38217	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000422298;ENST00000433274;ENST00000486867	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.41	3.54	0.40534	.	0.000000	0.35436	U	0.003217	T	0.37293	0.0998	L	0.50333	1.59	0.42926	D	0.994305	B;B;B;B;B;P	0.40476	0.056;0.435;0.207;0.131;0.207;0.718	B;B;B;B;B;B	0.41764	0.013;0.206;0.206;0.064;0.136;0.366	T	0.08911	-1.0699	10	0.22706	T	0.39	.	10.5108	0.44860	0.1588:0.0:0.8412:0.0	.	237;352;352;352;352;477	B4DX42;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	K	477;352;352;352;352;237;326;73	ENSP00000366604:N477K;ENSP00000366607:N352K;ENSP00000227503:N352K;ENSP00000366611:N352K;ENSP00000334414:N352K;ENSP00000413084:N237K;ENSP00000396793:N326K;ENSP00000419062:N73K	ENSP00000227503:N352K	N	-	3	2	SF1	64292166	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.176000	0.42500	0.845000	0.35118	0.561000	0.74099	AAC			0.642	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000143242.1		NM_004630	
PDGFD	80310	mdanderson.org	37	11	103814199	103814199	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:103814199G>T	ENST00000393158.2	-	5	932	c.753C>A	c.(751-753)taC>taA	p.Y251*	RP11-617B3.2_ENST00000527804.1_RNA|PDGFD_ENST00000302251.5_Nonsense_Mutation_p.Y245*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	251					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)		p.Y251Y(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TCCGGTCATGGTATGACCTGC	0.418																																					p.Y251X													PDGFD_ENST00000393158,NS,carcinoma,0,2	PDGFD_ENST00000393158	0	2	2	Substitution - coding silent(2)	lung(2)	c.C753A												106.0	89.0	95.0					11																	103814199		2202	4299	6501	SO:0001587	stop_gained	80310	exon5			GTCATGGTATGAC	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.753C>A	11.37:g.103814199G>T	ENSP00000376865:p.Tyr251*		70	0	0		47	0.06	3	NM_025208	2	0.00	0	A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	39	7.368027	0.98241	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	.	.	.	5.53	1.53	0.23141	.	0.189990	0.47852	D	0.000215	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.6147	12.4323	0.55581	0.2125:0.0:0.7875:0.0	.	.	.	.	X	251;245	.	ENSP00000302193:Y245X	Y	-	3	2	PDGFD	103319409	1.000000	0.71417	0.970000	0.41538	0.743000	0.42351	1.673000	0.37534	0.092000	0.17331	-0.961000	0.02630	TAC			0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000387231.2		NM_025208	
CASP5	838	mdanderson.org	37	11	104874075	104874075	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:104874075C>T	ENST00000260315.3	-	4	468	c.469G>A	c.(469-471)Gca>Aca	p.A157T	CASP5_ENST00000531367.1_Missense_Mutation_p.A15T|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.A99T|CASP5_ENST00000393141.2_Missense_Mutation_p.A170T|CASP5_ENST00000526056.1_Missense_Mutation_p.A170T|CASP5_ENST00000418434.1_Missense_Mutation_p.A15T			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	157					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTAGATTCTGCTGACTCAGGT	0.403																																					p.A170T													.	.			0			c.G508A												132.0	131.0	131.0					11																	104874075		2202	4299	6501	SO:0001583	missense	838	exon4			ATTCTGCTGACTC		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.469G>A	11.37:g.104874075C>T	ENSP00000260315:p.Ala157Thr		51	0	0		43	0.07	3	NM_001136112	2	0.00	0	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	.	12.18	1.861941	0.32884	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367;ENST00000456094	T;T;T;T;T;T;T	0.13420	4.69;4.34;4.7;4.59;4.69;4.34;2.59	3.77	0.712	0.18167	.	1.144530	0.06571	N	0.748518	T	0.10165	0.0249	L	0.38838	1.175	0.19300	N	0.999978	B;B;B;B	0.28208	0.016;0.097;0.032;0.203	B;B;B;B	0.25506	0.013;0.053;0.028;0.061	T	0.38329	-0.9666	10	0.30854	T	0.27	.	3.7139	0.08430	0.1924:0.5823:0.0:0.2252	.	15;99;157;170	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	T	170;15;157;99;170;15;141	ENSP00000376849:A170T;ENSP00000398130:A15T;ENSP00000260315:A157T;ENSP00000388365:A99T;ENSP00000436877:A170T;ENSP00000434471:A15T;ENSP00000415241:A141T	ENSP00000260315:A157T	A	-	1	0	CASP5	104379285	0.004000	0.15560	0.006000	0.13384	0.393000	0.30537	0.388000	0.20735	0.030000	0.15379	0.404000	0.27445	GCA			0.403	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000109397.2		NM_004347	
SNX19	399979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	130748342	130748342	+	Missense_Mutation	SNP	G	G	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr11:130748342G>C	ENST00000265909.4	-	11	3523	c.2954C>G	c.(2953-2955)tCt>tGt	p.S985C	SNX19_ENST00000528555.1_Missense_Mutation_p.S365C|SNX19_ENST00000426933.2_Missense_Mutation_p.S153C|SNX19_ENST00000530356.1_Missense_Mutation_p.S365C|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Missense_Mutation_p.S428C|SNX19_ENST00000545537.1_Missense_Mutation_p.S225C|SNX19_ENST00000534726.1_Missense_Mutation_p.S225C	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	985					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CATCCTCTTAGAGTTGCCTGG	0.532																																					p.S985C													.	.			0			c.C2954G												123.0	107.0	112.0					11																	130748342		2201	4297	6498	SO:0001583	missense	399979	exon11			CTCTTAGAGTTGC	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2954C>G	11.37:g.130748342G>C	ENSP00000265909:p.Ser985Cys		96	0	0		83	0.23	19	NM_014758	63	0.22	14	E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	9.849	1.193028	0.21954	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	T;T;T;T;T;T;T	0.34275	2.84;1.42;1.42;1.37;1.85;1.85;2.17	5.58	3.71	0.42584	.	0.710115	0.13302	N	0.398195	T	0.30230	0.0758	N	0.22421	0.69	0.09310	N	1	P;P	0.42649	0.786;0.681	P;B	0.46339	0.513;0.315	T	0.08126	-1.0737	10	0.45353	T	0.12	-2.8862	8.2561	0.31758	0.2682:0.0:0.7318:0.0	.	428;985	F5H5D1;Q92543	.;SNX19_HUMAN	C	985;225;225;153;365;365;428	ENSP00000265909:S985C;ENSP00000433699:S225C;ENSP00000437982:S225C;ENSP00000413345:S153C;ENSP00000435122:S365C;ENSP00000432307:S365C;ENSP00000443480:S428C	ENSP00000265909:S985C	S	-	2	0	SNX19	130253552	0.911000	0.30947	0.896000	0.35187	0.300000	0.27592	0.785000	0.26830	0.707000	0.31934	0.655000	0.94253	TCT			0.532	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000385649.1		NM_014758	
KRAS	3845	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	25378561	25378561	+	Missense_Mutation	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:25378561G>A	ENST00000256078.4	-	4	500	c.437C>T	c.(436-438)gCa>gTa	p.A146V	AC087239.1_ENST00000594112.1_5'Flank|KRAS_ENST00000557334.1_Intron|KRAS_ENST00000311936.3_Missense_Mutation_p.A146V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	146			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.A146V(20)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGTCTTTGCTGATGTTTC	0.318		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.A146V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS_ENST00000256078,colon,carcinoma,0,137	KRAS_ENST00000256078	0	137	20	Substitution - Missense(20)	large_intestine(17)|thyroid(2)|haematopoietic_and_lymphoid_tissue(1)	c.C437T												207.0	188.0	194.0					12																	25378561		2203	4300	6503	SO:0001583	missense	3845	exon4	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	GTCTTTGCTGATG	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.437C>T	12.37:g.25378561G>A	ENSP00000256078:p.Ala146Val		51	0	0		97	0.19	18	NM_004985	197	0.23	45	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	G	33	5.217565	0.95104	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.88818	-2.43;-2.43	5.52	5.52	0.82312	Small GTP-binding protein domain (1);	0.045975	0.85682	D	0.000000	D	0.95236	0.8455	M	0.90595	3.13	0.80722	D	1	D;D	0.76494	0.999;0.998	P;D	0.62955	0.802;0.909	D	0.95726	0.8770	10	0.87932	D	0	.	18.7849	0.91951	0.0:0.0:1.0:0.0	.	146;146	P01116-2;P01116	.;RASK_HUMAN	V	146	ENSP00000308495:A146V;ENSP00000256078:A146V	ENSP00000256078:A146V	A	-	2	0	KRAS	25269828	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.795000	0.99099	2.757000	0.94681	0.585000	0.79938	GCA			0.318	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000412232.1		NM_033360	
PPP1R12A	4659	bcgsc.ca;mdanderson.org	37	12	80202290	80202290	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:80202290G>T	ENST00000450142.2	-	11	1789	c.1523C>A	c.(1522-1524)aCa>aAa	p.T508K	PPP1R12A_ENST00000550107.1_Missense_Mutation_p.T508K|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.T421K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.T508K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.T508K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	508					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						AATGTCAGATGTACTGGCTAG	0.318																																					p.T508K													.	PPP1R12A	76		0			c.C1523A												138.0	135.0	136.0					12																	80202290		1833	4083	5916	SO:0001583	missense	4659	exon11			TCAGATGTACTGG	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1523C>A	12.37:g.80202290G>T	ENSP00000389168:p.Thr508Lys		92	0	0		111	0.05	5	NM_002480	70	0.00	0	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.7|23.7	4.443222|4.443222	0.83993|0.83993	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000553081|ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	.|T;T;T;T;T;T;T	.|0.50001	.|1.17;1.17;1.14;1.17;1.06;1.04;0.76	5.26|5.26	4.36|4.36	0.52297|0.52297	.|.	.|0.046814	.|0.85682	.|D	.|0.000000	T|T	0.58090|0.58090	0.2098|0.2098	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	.|D;P;P;D	.|0.57257	.|0.969;0.95;0.718;0.979	.|P;P;B;P	.|0.53313	.|0.723;0.571;0.215;0.628	T|T	0.64028|0.64028	-0.6503|-0.6503	5|10	.|0.72032	.|D	.|0.01	.|.	14.2376|14.2376	0.65937|0.65937	0.0732:0.0:0.9268:0.0|0.0732:0.0:0.9268:0.0	.|.	.|508;508;508;508	.|F8W8Q6;O14974-2;O14974-3;O14974	.|.;.;.;MYPT1_HUMAN	N|K	112|508;508;508;508;508;508;508;421;508;508;203	.|ENSP00000261207:T508K;ENSP00000389168:T508K;ENSP00000416769:T508K;ENSP00000449514:T421K;ENSP00000446855:T508K;ENSP00000446816:T508K;ENSP00000450061:T203K	.|ENSP00000261207:T508K	H|T	-|-	1|2	0|0	PPP1R12A|PPP1R12A	78726421|78726421	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.272000|9.272000	0.95707|0.95707	2.450000|2.450000	0.82876|0.82876	0.655000|0.655000	0.94253|0.94253	CAT|ACA			0.318	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407254.2		NM_002480	
CCDC64	92558	mdanderson.org	37	12	120427799	120427799	+	Missense_Mutation	SNP	C	C	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr12:120427799C>A	ENST00000397558.2	+	1	127	c.127C>A	c.(127-129)Ctc>Atc	p.L43I		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	43					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCCGCCGCCCTCATCTTCCC	0.776																																					p.L43I													.	.			0			c.C127A												2.0	2.0	2.0					12																	120427799		1105	2831	3936	SO:0001583	missense	92558	exon1			GCCGCCCTCATCT	U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.127C>A	12.37:g.120427799C>A	ENSP00000380690:p.Leu43Ile		19	0	0		13	0.15	2	NM_207311	3	0.00	0	A8MUC8|B4DWL0|B5MDJ0|O95000	Missense_Mutation	SNP	ENST00000397558.2	37	CCDS41845.1	.	.	.	.	.	.	.	.	.	.	c	3.840	-0.033912	0.07543	.	.	ENSG00000135127	ENST00000357093;ENST00000397558	T	0.33654	1.4	3.59	2.59	0.31030	.	3.874620	0.01535	N	0.018949	T	0.21718	0.0523	N	0.08118	0	0.58432	D	0.999992	B	0.15473	0.013	B	0.14023	0.01	T	0.25502	-1.0130	10	0.19147	T	0.46	0.0276	7.9492	0.30003	0.0:0.7035:0.1834:0.1132	.	43	Q6ZP65	BICR1_HUMAN	I	43	ENSP00000380690:L43I	ENSP00000349605:L43I	L	+	1	0	CCDC64	118912182	0.108000	0.22018	0.996000	0.52242	0.997000	0.91878	0.523000	0.22925	1.555000	0.49500	0.552000	0.68991	CTC			0.776	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000403390.2		NM_207311	
DACH1	1602	mdanderson.org	37	13	72440446	72440446	+	Silent	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr13:72440446G>A	ENST00000359684.2	-	1	461	c.462C>T	c.(460-462)agC>agT	p.S154S	DACH1_ENST00000305425.4_Silent_p.S154S|DACH1_ENST00000354591.4_Silent_p.S154S|DACH1_ENST00000313174.7_Silent_p.S154S			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	154	Poly-Ser.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		tgctactactgctgctgctgc	0.662																																					p.S154S													.	.			0			c.C462T												3.0	4.0	4.0					13																	72440446		1701	3505	5206	SO:0001819	synonymous_variant	1602	exon1			ACTACTGCTGCTG	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.462C>T	13.37:g.72440446G>A			37	0.027027027	1		17	0.12	2	NM_080759	3	0.00	0	D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																						0.662	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding		OTTHUMT00000045240.1		NM_004392	
SPTB	6710	mdanderson.org	37	14	65260086	65260086	+	Silent	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:65260086C>T	ENST00000389721.5	-	13	2327	c.2295G>A	c.(2293-2295)ctG>ctA	p.L765L	SPTB_ENST00000542895.1_Silent_p.L765L|SPTB_ENST00000556626.1_Silent_p.L765L|SPTB_ENST00000389720.3_Silent_p.L765L|SPTB_ENST00000389722.3_Silent_p.L765L	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	765					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCAGAGAGCAGCCGGTGGG	0.607																																					p.L765L													.	.			0			c.G2295A												35.0	38.0	37.0					14																	65260086		2203	4300	6503	SO:0001819	synonymous_variant	6710	exon13			AGAGAGCAGCCGG		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2295G>A	14.37:g.65260086C>T			34	0	0		37	0.08	3	NM_001024858	3	0.00	0	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																					0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000414080.1			
PTPN21	11099	mdanderson.org	37	14	88945892	88945892	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:88945892C>T	ENST00000556564.1	-	13	2167	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R628H	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	628					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCGCGTGGCGCGCGGCGGT	0.711																																					p.R628H													.	.			0			c.G1883A												20.0	22.0	21.0					14																	88945892		2189	4276	6465	SO:0001583	missense	11099	exon13			GCGTGGCGCGCGG	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1883G>A	14.37:g.88945892C>T	ENSP00000452414:p.Arg628His		16	0	0		18	0.11	2	NM_007039	12	0.00	0		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163462	0.38217	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.73897	-0.79;-0.79	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.75376	0.3841	M	0.69823	2.125	0.36502	D	0.869043	B	0.23377	0.084	B	0.16722	0.016	T	0.78064	-0.2350	10	0.66056	D	0.02	.	18.6636	0.91479	0.0:1.0:0.0:0.0	.	628	Q16825	PTN21_HUMAN	H	628	ENSP00000330276:R628H;ENSP00000452414:R628H	ENSP00000330276:R628H	R	-	2	0	PTPN21	88015645	0.694000	0.27738	0.044000	0.18714	0.453000	0.32348	1.229000	0.32600	2.391000	0.81399	0.591000	0.81541	CGC			0.711	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000410303.1			
CHGA	1113	mdanderson.org	37	14	93397926	93397926	+	Silent	SNP	G	G	A	rs371215355|rs575196921	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr14:93397926G>A	ENST00000216492.5	+	6	967	c.687G>A	c.(685-687)gaG>gaA	p.E229E	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	229					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AGAGAgaagaggaggaggagg	0.647																																					p.E229E	Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												CHGA,colon,carcinoma,0,2	CHGA	0	2	0			c.G687A												30.0	36.0	34.0					14																	93397926		2203	4300	6503	SO:0001819	synonymous_variant	1113	exon6			AGAAGAGGAGGAG		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.687G>A	14.37:g.93397926G>A			62	0	0		62	0.06	4	NM_001275	5	0.20	1	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Silent	SNP	ENST00000216492.5	37	CCDS9906.1																																																																																					0.647	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412411.1		NM_001275	
OR4N3P	390539	bcgsc.ca	37	15	22413810	22413810	+	IGR	SNP	G	G	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr15:22413810G>C								RP11-69H14.6 (30002 upstream) : RP11-2F9.4 (20079 downstream)																							ACTCCTTGTTGTGATGGCCTT	0.498																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	390539	.			CTTGTTGTGATGG																													15.37:g.22413810G>C			136	0.0073529412	1		137	0.07	10	.	0		0		RNA	SNP		37																																																																																					0	0.498										
LTK	4058	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	41804958	41804958	+	Silent	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr15:41804958G>A	ENST00000263800.6	-	3	402	c.306C>T	c.(304-306)gcC>gcT	p.A102A	LTK_ENST00000561619.1_Intron|LTK_ENST00000453182.2_Silent_p.A102A|LTK_ENST00000355166.5_Silent_p.A102A	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	102					cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TCAGCTGCCCGGCGGCCCCCA	0.682										TSP Lung(18;0.14)																											p.A102A													LTK_ENST00000263800,NS,carcinoma,-1,2	LTK_ENST00000263800	-1	2	0			c.C306T												11.0	12.0	11.0					15																	41804958		2186	4276	6462	SO:0001819	synonymous_variant	4058	exon3			CTGCCCGGCGGCC	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.306C>T	15.37:g.41804958G>A			45	0	0		29	0.21	6	NM_001135685	1	0.00	0	A6NNJ8|B4DL89|E9PFX4	Silent	SNP	ENST00000263800.6	37	CCDS10077.1																																																																																					0.682	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000252690.2			
ZNF646	9726	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	31088507	31088507	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr16:31088507C>T	ENST00000394979.2	+	1	1285	c.862C>T	c.(862-864)Cat>Tat	p.H288Y	ZNF646_ENST00000300850.5_Missense_Mutation_p.H288Y|ZNF668_ENST00000300849.4_5'Flank			O15015	ZN646_HUMAN	zinc finger protein 646	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTCTCGACTGCATGCCCAGTA	0.602																																					p.H288Y													.	.			0			c.C862T												105.0	96.0	99.0					16																	31088507		2197	4300	6497	SO:0001583	missense	9726	exon2			CGACTGCATGCCC	AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.862C>T	16.37:g.31088507C>T	ENSP00000378429:p.His288Tyr		110	0	0		93	0.18	17	NM_014699	39	0.38	15	Q8IVD8	Missense_Mutation	SNP	ENST00000394979.2	37		.	.	.	.	.	.	.	.	.	.	C	22.6	4.316898	0.81469	.	.	ENSG00000167395	ENST00000300850;ENST00000394979;ENST00000439353	T;T	0.41400	1.0;1.0	5.34	5.34	0.76211	.	.	.	.	.	T	0.79215	0.4408	H	0.98388	4.22	0.54753	D	0.999989	D	0.71674	0.998	D	0.87578	0.998	D	0.87698	0.2558	9	0.87932	D	0	-14.1227	17.8034	0.88595	0.0:1.0:0.0:0.0	.	288	O15015-2	.	Y	288;288;53	ENSP00000300850:H288Y;ENSP00000378429:H288Y	ENSP00000300850:H288Y	H	+	1	0	ZNF646	30996008	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.256000	0.78350	2.501000	0.84356	0.655000	0.94253	CAT			0.602	ZNF646-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000108510.2		NM_014699	
FBXL8	55336	mdanderson.org	37	16	67197098	67197098	+	Missense_Mutation	SNP	T	T	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr16:67197098T>C	ENST00000258200.3	+	3	677	c.500T>C	c.(499-501)cTt>cCt	p.L167P	TRADD_ENST00000345057.4_5'Flank|RP11-5A19.5_ENST00000518227.1_5'Flank|HSF4_ENST00000421453.1_5'Flank|HSF4_ENST00000521374.1_5'Flank|HSF4_ENST00000264009.8_5'Flank|FBXL8_ENST00000519917.1_Missense_Mutation_p.L167P|HSF4_ENST00000584272.1_5'Flank			Q96CD0	FBXL8_HUMAN	F-box and leucine-rich repeat protein 8	167										endometrium(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0144)|Epithelial(162;0.0338)|all cancers(182;0.185)		CTCCACAGCCTTTTTCTGGAC	0.682																																					p.L167P													.	.			0			c.T500C												9.0	7.0	8.0					16																	67197098		2148	4216	6364	SO:0001583	missense	55336	exon3			ACAGCCTTTTTCT	AK002140	CCDS10831.1	16q22.1-q22.3	2013-01-22			ENSG00000135722	ENSG00000135722		"""F-boxes / Leucine-rich repeats"""	17875	protein-coding gene	gene with protein product		609077					Standard	NM_018378		Approved	Fbl8	uc002erk.1	Q96CD0	OTTHUMG00000137514	ENST00000258200.3:c.500T>C	16.37:g.67197098T>C	ENSP00000258200:p.Leu167Pro		24	0.0416666667	1		16	0.13	2	NM_018378	5	0.00	0	Q9NUM0	Missense_Mutation	SNP	ENST00000258200.3	37	CCDS10831.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282433	0.80692	.	.	ENSG00000135722	ENST00000258200;ENST00000519917	T;T	0.58940	0.3;0.3	4.4	4.4	0.53042	.	0.000000	0.52532	D	0.000066	T	0.71048	0.3294	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.66602	0.945	T	0.74765	-0.3554	10	0.72032	D	0.01	-9.2966	12.5763	0.56365	0.0:0.0:0.0:1.0	.	167	Q96CD0	FBXL8_HUMAN	P	167	ENSP00000258200:L167P;ENSP00000430490:L167P	ENSP00000258200:L167P	L	+	2	0	FBXL8	65754599	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.201000	0.72124	1.848000	0.53677	0.379000	0.24179	CTT			0.682	FBXL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000268834.2			
SMG6	23293	mdanderson.org	37	17	1964855	1964855	+	Silent	SNP	C	C	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:1964855C>A	ENST00000263073.6	-	19	4241	c.4191G>T	c.(4189-4191)gtG>gtT	p.V1397V	SMG6_ENST00000573166.1_5'UTR|SMG6_ENST00000536871.2_Silent_p.V489V|SMG6_ENST00000354901.4_Silent_p.V489V|SMG6_ENST00000544865.1_Silent_p.V1366V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1397	PINc.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAGCGCCTTCACACGCAGGT	0.637																																					p.V1397V	Melanoma(59;28 1088 11621 25887 46638 50814)												.	.			0			c.G4191T												91.0	50.0	64.0					17																	1964855		2196	4296	6492	SO:0001819	synonymous_variant	23293	exon19			CGCCTTCACACGC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.4191G>T	17.37:g.1964855C>A			37	0	0		29	0.10	3	NM_017575	67	0.00	0	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	CCDS11016.1																																																																																					0.637	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437826.3			
KRTAP2-4	85294	hgsc.bcm.edu	37	17	39221816	39221816	+	Nonsense_Mutation	SNP	C	C	T	rs200049107		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:39221816C>T	ENST00000394015.2	-	1	315	c.282G>A	c.(280-282)tgG>tgA	p.W94*		NM_033184.3	NP_149440.1	Q9BYR9	KRA24_HUMAN	keratin associated protein 2-4	94	10 X 5 AA repeats of C-C-[CDPQRW]- [ADPRS]-[CIPSTV].					keratin filament (GO:0045095)		p.W94*(1)		skin(1)	1		Breast(137;0.000496)|Myeloproliferative disorder(1115;0.204)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGTGGCCCAGCAGCAGG	0.716																																					p.W94X													KRTAP2-4,trunk,malignant_melanoma,0,1	KRTAP2-4	0	1	1	Substitution - Nonsense(1)	skin(1)	c.G282A												9.0	9.0	9.0					17																	39221816		1454	3133	4587	SO:0001587	stop_gained	85294	exon1			GGTGGCCCAGCAG	AJ406930		17q21.2	2012-04-19			ENSG00000213417	ENSG00000213417		"""Keratin associated proteins"""	18891	protein-coding gene	gene with protein product						11279113	Standard	NM_033184		Approved	KAP2.4	uc002hvy.3	Q9BYR9	OTTHUMG00000133594	ENST00000394015.2:c.282G>A	17.37:g.39221816C>T	ENSP00000377583:p.Trp94*		11	0	0		7	0.43	3	NM_033184	0		0	Q495J2	Nonsense_Mutation	SNP	ENST00000394015.2	37	CCDS32648.1	.	.	.	.	.	.	.	.	.	.	.	25.2	4.608564	0.87258	.	.	ENSG00000213417	ENST00000394015	.	.	.	5.58	5.58	0.84498	.	0.187904	0.26119	U	0.026230	.	.	.	.	.	.	0.58432	D	0.999994	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	15.0735	0.72059	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000377583:W94X	W	-	3	0	KRTAP2-4	36475342	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.989000	0.29629	2.624000	0.88883	0.655000	0.94253	TGG			0.716	KRTAP2-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257698.1		NM_033184	
CDC27	996	hgsc.bcm.edu	37	17	45216150	45216150	+	Silent	SNP	T	T	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:45216150T>C	ENST00000066544.3	-	13	1752	c.1659A>G	c.(1657-1659)tcA>tcG	p.S553S	CDC27_ENST00000446365.2_Silent_p.S492S|CDC27_ENST00000531206.1_Silent_p.S559S|CDC27_ENST00000527547.1_Silent_p.S552S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	553					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGACAGAACTGAAAGAGCAA	0.353																																					p.S559S													CDC27_ENST00000531206,NS,carcinoma,0,2	CDC27_ENST00000531206	0	2	0			c.A1677G												46.0	51.0	49.0					17																	45216150		2202	4299	6501	SO:0001819	synonymous_variant	996	exon13			CAGAACTGAAAGA	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1659A>G	17.37:g.45216150T>C			61	0	0		49	0.10	5	NM_001114091	83	0.00	0	G3V1C4|Q16349|Q96F35	Silent	SNP	ENST00000066544.3	37	CCDS11509.1																																																																																					0.353	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000389742.2			
LAMA3	3909	mdanderson.org	37	18	21427621	21427621	+	Silent	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:21427621C>T	ENST00000313654.9	+	32	4366	c.4125C>T	c.(4123-4125)agC>agT	p.S1375S	LAMA3_ENST00000399516.3_Silent_p.S1375S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1375	Domain III B.|Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACCGGGACAGCGGGCAGTGCA	0.627																																					p.S1375S													.	.			0			c.C4125T												22.0	28.0	26.0					18																	21427621		2186	4281	6467	SO:0001819	synonymous_variant	3909	exon32			GGACAGCGGGCAG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.4125C>T	18.37:g.21427621C>T			41	0	0		35	0.09	3	NM_198129	1	0.00	0	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	ENST00000313654.9	37	CCDS42419.1																																																																																					0.627	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254824.3		NM_000227, NM_198129	
FBXO15	201456	mdanderson.org	37	18	71793289	71793289	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:71793289G>T	ENST00000419743.2	-	6	912	c.833C>A	c.(832-834)aCc>aAc	p.T278N	FBXO15_ENST00000269500.5_Missense_Mutation_p.T202N	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	278						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGTAGATATGGTCAAATGACT	0.468																																					p.T278N													.	.			0			c.C833A												134.0	118.0	123.0					18																	71793289		2203	4300	6503	SO:0001583	missense	201456	exon6			GATATGGTCAAAT	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.833C>A	18.37:g.71793289G>T	ENSP00000393154:p.Thr278Asn		40	0	0		45	0.07	3	NM_001142958	3	0.00	0	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	37	CCDS45884.1	.	.	.	.	.	.	.	.	.	.	G	1.552	-0.538911	0.04053	.	.	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46819	0.87;0.86	5.4	2.43	0.29744	.	0.614423	0.17106	N	0.186789	T	0.40171	0.1106	M	0.63428	1.95	0.09310	N	1	B;B	0.12630	0.006;0.006	B;B	0.10450	0.005;0.005	T	0.38824	-0.9643	10	0.52906	T	0.07	-7.7572	4.2159	0.10535	0.077:0.1449:0.4975:0.2807	.	278;202	B3KST3;Q8NCQ5	.;FBX15_HUMAN	N	202;278	ENSP00000269500:T202N;ENSP00000393154:T278N	ENSP00000269500:T202N	T	-	2	0	FBXO15	69944269	0.002000	0.14202	0.000000	0.03702	0.018000	0.09664	0.310000	0.19356	0.267000	0.21916	0.650000	0.86243	ACC			0.468	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000444223.1		NM_152676	
ZNF407	55628	broad.mit.edu	37	18	72775488	72775488	+	Silent	SNP	A	A	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr18:72775488A>G	ENST00000299687.5	+	8	5811	c.5811A>G	c.(5809-5811)ggA>ggG	p.G1937G		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1937					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGGCTGATGGAGCCACCCAGG	0.642																																					p.G1937G													.	ZNF407	231		0			c.A5811G												9.0	12.0	11.0					18																	72775488		2125	4237	6362	SO:0001819	synonymous_variant	55628	exon8			TGATGGAGCCACC	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5811A>G	18.37:g.72775488A>G			38	0.0263157895	1		13	0.23	3	NM_017757	17	0.00	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Silent	SNP	ENST00000299687.5	37	CCDS45885.1																																																																																					0.642	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000444903.1		NM_017757	
TCF3	6929	mdanderson.org	37	19	1615323	1615323	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:1615323C>T	ENST00000262965.5	-	18	2127	c.1783G>A	c.(1783-1785)Gct>Act	p.A595T	RNU6-1223P_ENST00000517124.1_RNA|TCF3_ENST00000395423.3_Missense_Mutation_p.A599T|TCF3_ENST00000588136.1_Intron|TCF3_ENST00000344749.5_Intron|TCF3_ENST00000453954.2_Intron	NM_003200.3	NP_003191.1	Q9HCS4	TF7L1_HUMAN	transcription factor 3	0					anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCGAGACAGCCTGGTGCAGG	0.637			T	"""PBX1, HLF, TFPT"""	pre B-ALL																																p.A595T				Dom	yes		19	19p13.3	6929	transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47)		L	.	.			0			c.G1783A												75.0	74.0	74.0					19																	1615323		2203	4300	6503	SO:0001583	missense	6929	exon18			AGACAGCCTGGTG	M65214	CCDS12074.1, CCDS45899.1	19p13.3	2014-02-13	2013-02-26		ENSG00000071564	ENSG00000071564		"""Basic helix-loop-helix proteins"""	11633	protein-coding gene	gene with protein product	"""transcription factor E2-alpha"", ""immunoglobulin transcription factor 1"", ""kappa-E2-binding factor"", ""E2A immunoglobulin enhancer-binding factor E12/E47"", ""VDR interacting repressor"""	147141				2308859, 1967983	Standard	NM_003200		Approved	E2A, ITF1, MGC129647, MGC129648, bHLHb21, VDIR, E47	uc002ltt.4	P15923	OTTHUMG00000180031	ENST00000262965.5:c.1783G>A	19.37:g.1615323C>T	ENSP00000262965:p.Ala595Thr		58	0	0		28	0.11	3	NM_003200	853	0.00	0	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	ENST00000262965.5	37	CCDS12074.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936954	0.92458	.	.	ENSG00000071564	ENST00000262965;ENST00000395423	D;D	0.99422	-5.88;-5.88	4.14	4.14	0.48551	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.92507	3.315	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.997;1.0;1.0	D	0.97709	1.0189	10	0.87932	D	0	-27.0814	15.3807	0.74654	0.0:1.0:0.0:0.0	.	595;599;532	P15923;Q2TB39;Q6PJU3	TFE2_HUMAN;.;.	T	595;599	ENSP00000262965:A595T;ENSP00000378813:A599T	ENSP00000262965:A595T	A	-	1	0	TCF3	1566323	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.521000	0.81832	1.841000	0.53522	0.555000	0.69702	GCT			0.637	TCF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000449367.1		NM_003200	
ZBTB7A	51341	mdanderson.org	37	19	4055177	4055177	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:4055177G>T	ENST00000322357.4	-	2	332	c.54C>A	c.(52-54)agC>agA	p.S18R	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.S18R	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGGATGTCGCTGCTGTGGT	0.706																																					p.S18R													.	.			0			c.C54A												19.0	21.0	20.0					19																	4055177		2199	4300	6499	SO:0001583	missense	51341	exon2			GATGTCGCTGCTG	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.54C>A	19.37:g.4055177G>T	ENSP00000323670:p.Ser18Arg		50	0	0		39	0.08	3	NM_015898	23	0.00	0	D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998807	0.54147	.	.	ENSG00000178951	ENST00000322357	T	0.72394	-0.65	4.49	1.11	0.20524	BTB/POZ fold (2);	0.140659	0.48767	U	0.000178	T	0.71736	0.3375	L	0.37507	1.11	0.40528	D	0.980909	D	0.89917	1.0	D	0.69479	0.964	T	0.69442	-0.5144	10	0.66056	D	0.02	.	7.3758	0.26827	0.3556:0.0:0.6444:0.0	.	18	O95365	ZBT7A_HUMAN	R	18	ENSP00000323670:S18R	ENSP00000323670:S18R	S	-	3	2	ZBTB7A	4006177	0.223000	0.23663	0.993000	0.49108	0.977000	0.68977	-0.474000	0.06607	0.034000	0.15491	0.462000	0.41574	AGC			0.706	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457621.2		NM_015898	
TICAM1	148022	mdanderson.org	37	19	4816391	4816391	+	Missense_Mutation	SNP	A	A	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:4816391A>G	ENST00000248244.5	-	2	2228	c.1999T>C	c.(1999-2001)Tca>Cca	p.S667P		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	667	Pro-rich.|Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGTGCGGGTGAGGCCGTAGGG	0.657																																					p.S667P													.	.			0			c.T1999C												54.0	49.0	50.0					19																	4816391		2203	4300	6503	SO:0001583	missense	148022	exon2			CGGGTGAGGCCGT	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1999T>C	19.37:g.4816391A>G	ENSP00000248244:p.Ser667Pro		43	0	0		39	0.08	3	NM_182919	25	0.00	0	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	37	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	A	8.347	0.830025	0.16749	.	.	ENSG00000127666	ENST00000248244	T	0.49139	0.79	3.92	-4.18	0.03846	.	.	.	.	.	T	0.19087	0.0458	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.16305	-1.0407	9	0.22706	T	0.39	-2.9462	1.8557	0.03178	0.2296:0.2783:0.3552:0.1369	.	667	Q8IUC6	TCAM1_HUMAN	P	667	ENSP00000248244:S667P	ENSP00000248244:S667P	S	-	1	0	TICAM1	4767391	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.310000	0.08135	-0.676000	0.05238	0.459000	0.35465	TCA			0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450435.1		NM_014261	
ZNF440	126070	broad.mit.edu	37	19	11943326	11943329	+	Frame_Shift_Del	DEL	ACAA	ACAA	-			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	ACAA	ACAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:11943326_11943329delACAA	ENST00000304060.5	+	4	1499_1502	c.1335_1338delACAA	c.(1333-1338)acacaafs	p.TQ445fs		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	445					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAAGGACACAAACACACATAA	0.377																																					p.445_446del													.	ZNF440	56		0			c.1335_1338del																																									SO:0001589	frameshift_variant	126070	exon4			AAGGACACAAACA	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1335_1338delACAA	19.37:g.11943326_11943329delACAA	ENSP00000305373:p.Thr445fs		57	0	0		68	0.13	9	NM_152357	20	0.00	0	Q8N1R9	Frame_Shift_Del	DEL	ENST00000304060.5	37	CCDS42503.1																																																																																					0.377	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344508.1		NM_152357	
FAM32A	26017	broad.mit.edu	37	19	16296279	16296279	+	Missense_Mutation	SNP	A	A	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:16296279A>G	ENST00000263384.7	+	1	51	c.26A>G	c.(25-27)aAg>aGg	p.K9R	FAM32A_ENST00000588367.1_Missense_Mutation_p.K9R|CTD-2562J15.4_ENST00000591038.1_RNA|FAM32A_ENST00000589852.1_5'UTR	NM_014077.2	NP_054796.1	Q9Y421	FA32A_HUMAN	family with sequence similarity 32, member A	9	Lys-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			lung(1)	1						CAGGTCCAAAAGGGACCCCTG	0.597											OREG0025331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.K9R													.	FAM32A	6		0			c.A26G												35.0	31.0	32.0					19																	16296279		2179	4272	6451	SO:0001583	missense	26017	exon1			TCCAAAAGGGACC	BC000639	CCDS12341.1	19p13.12-p13.11	2013-09-19			ENSG00000105058	ENSG00000105058			24563	protein-coding gene	gene with protein product		614554				11230166, 10810093	Standard	NM_014077		Approved	DKFZP586O0120	uc002ndt.3	Q9Y421	OTTHUMG00000182279	ENST00000263384.7:c.26A>G	19.37:g.16296279A>G	ENSP00000263384:p.Lys9Arg		151	0.0066225166	1	709	133	0.03	4	NM_014077	408	0.00	0	Q9BT02	Missense_Mutation	SNP	ENST00000263384.7	37	CCDS12341.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.735976	0.30774	.	.	ENSG00000105058	ENST00000263384	.	.	.	3.41	-0.00507	0.14019	.	0.175899	0.46442	N	0.000296	T	0.39436	0.1078	L	0.37507	1.11	0.42328	D	0.992285	B	0.15719	0.014	B	0.17098	0.017	T	0.07712	-1.0758	9	0.24483	T	0.36	-15.6387	6.2518	0.20850	0.5224:0.0:0.4776:0.0	.	9	Q9Y421	FA32A_HUMAN	R	9	.	ENSP00000263384:K9R	K	+	2	0	FAM32A	16157279	1.000000	0.71417	0.786000	0.31890	0.955000	0.61496	1.205000	0.32308	0.061000	0.16311	0.456000	0.33151	AAG			0.597	FAM32A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460346.1		NM_014077	
B9D2	80776	mdanderson.org	37	19	41858943	41858943	+	IGR	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr19:41858943G>T	ENST00000243578.3	-	0	1027				TMEM91_ENST00000539627.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TGFB1_ENST00000221930.5_Missense_Mutation_p.P3T|TMEM91_ENST00000604123.1_5'Flank	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2						cilium assembly (GO:0042384)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|TCTN-B9D complex (GO:0036038)	gamma-tubulin binding (GO:0043015)			large_intestine(1)|ovary(1)	2						agcCCGGAGGGCGGCATGGGG	0.751																																					p.P3T													.	.			0			c.C7A												2.0	2.0	2.0					19																	41858943		1686	3299	4985	SO:0001628	intergenic_variant	7040	exon1			CGGAGGGCGGCAT	BC004157	CCDS12579.1	19q13.2	2014-01-28				ENSG00000123810			28636	protein-coding gene	gene with protein product		611951				21763481	Standard	NM_030578		Approved	MGC4093, MKS10	uc002oqj.2	Q9BPU9			19.37:g.41858943G>T			14	0	0		8	0.25	2	NM_000660	67	0.00	0		Missense_Mutation	SNP	ENST00000243578.3	37	CCDS12579.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604220	0.46423	.	.	ENSG00000105329	ENST00000221930	T	0.28454	1.61	3.88	3.88	0.44766	.	1.140730	0.06783	N	0.785541	T	0.23727	0.0574	N	0.24115	0.695	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.09997	-1.0649	10	0.87932	D	0	.	9.439	0.38657	0.0:0.2176:0.7824:0.0	.	3	P01137	TGFB1_HUMAN	T	3	ENSP00000221930:P3T	ENSP00000221930:P3T	P	-	1	0	TGFB1	46550783	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.044000	0.41241	1.997000	0.58415	0.462000	0.41574	CCC			0.751	B9D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000463489.1		NM_030578	
FAM84A	151354	mdanderson.org	37	2	14774516	14774516	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:14774516C>T	ENST00000295092.2	+	2	701	c.413C>T	c.(412-414)cCc>cTc	p.P138L	AC011897.1_ENST00000581929.1_5'Flank|FAM84A_ENST00000331243.4_Missense_Mutation_p.P138L	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	138										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ccggagccgcccgcgcccgcc	0.741																																					p.P138L													.	.			0			c.C413T												3.0	4.0	4.0					2																	14774516		1621	3394	5015	SO:0001583	missense	151354	exon2			AGCCGCCCGCGCC	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.413C>T	2.37:g.14774516C>T	ENSP00000295092:p.Pro138Leu		33	0	0		30	0.10	3	NM_145175	0		0	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	CCDS1684.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.577008	0.45902	.	.	ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000359969	T;T	0.03920	3.76;3.76	4.96	4.96	0.65561	.	0.468956	0.23951	N	0.042954	T	0.05686	0.0149	L	0.49126	1.545	0.52501	D	0.999953	P	0.37636	0.603	B	0.23852	0.049	T	0.37314	-0.9711	10	0.45353	T	0.12	-20.5606	16.0579	0.80817	0.0:1.0:0.0:0.0	.	138	Q96KN4	FA84A_HUMAN	L	138	ENSP00000295092:P138L;ENSP00000330681:P138L	ENSP00000295092:P138L	P	+	2	0	FAM84A	14691967	0.445000	0.25657	1.000000	0.80357	0.990000	0.78478	1.486000	0.35530	2.426000	0.82243	0.655000	0.94253	CCC			0.741	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239308.2		NM_145175	
SDC1	6382	mdanderson.org	37	2	20403974	20403974	+	Missense_Mutation	SNP	G	G	T	rs2230922	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:20403974G>T	ENST00000254351.4	-	3	471	c.227C>A	c.(226-228)aCg>aAg	p.T76K	SDC1_ENST00000403076.1_Missense_Mutation_p.T76K|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000381150.1_Missense_Mutation_p.T76K	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1	76			T -> M (in dbSNP:rs2230922).		canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTCTGGAGACGTGGGAATAGC	0.617																																					p.T76K													.	.			0			c.C227A												77.0	84.0	82.0					2																	20403974		2203	4299	6502	SO:0001583	missense	6382	exon3			GGAGACGTGGGAA	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.227C>A	2.37:g.20403974G>T	ENSP00000254351:p.Thr76Lys		15	0	0		12	0.17	2	NM_002997	95	0.00	0	D6W523|Q53QV0|Q546D3|Q96HB7	Missense_Mutation	SNP	ENST00000254351.4	37	CCDS1697.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510756	0.27036	.	.	ENSG00000115884	ENST00000254351;ENST00000381150;ENST00000403076;ENST00000429035	T;T;T;T	0.35605	2.15;2.15;1.35;1.3	4.52	-0.461	0.12172	.	0.750404	0.11981	N	0.510780	T	0.42675	0.1213	M	0.70595	2.14	0.09310	N	1	P;B	0.38250	0.624;0.314	P;B	0.45474	0.482;0.357	T	0.42481	-0.9449	10	0.87932	D	0	-0.3989	8.2353	0.31622	0.4267:0.0:0.5733:0.0	.	76;76	E9PHH3;P18827	.;SDC1_HUMAN	K	76;76;76;84	ENSP00000254351:T76K;ENSP00000370542:T76K;ENSP00000384613:T76K;ENSP00000400773:T84K	ENSP00000254351:T76K	T	-	2	0	SDC1	20267455	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.222000	0.17699	-0.220000	0.09988	-2.104000	0.00359	ACG			0.617	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207495.1		NM_001006946	
ANKRD36B	57730	broad.mit.edu	37	2	98195765	98195766	+	RNA	INS	-	-	C	rs375221777|rs199664493	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:98195765_98195766insC	ENST00000443455.1	-	0	736							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TGGGCAAGAAATATGCTCAGGC	0.366													|||unknown(NO_COVERAGE)	1418	0.283147	0.2057	0.3213	5008	,	,		11280	0.2272		0.5586	False		,,,				2504	0.135				.													.	.			0			.																																											57730	.			CAAGAAATATGCT	AK024934	CCDS74543.1	2q11.2	2013-01-11	2008-03-25	2008-03-25	ENSG00000196912	ENSG00000196912		"""Ankyrin repeat domain containing"""	29333	protein-coding gene	gene with protein product	"""melanoma-associated antigen"", ""CLL-associated antigen KW-1"""		"""KIAA1641"""	KIAA1641		10997877	Standard	NM_025190		Approved	FLJ21281	uc010yvc.1	Q8N2N9	OTTHUMG00000130547		2.37:g.98195765_98195766insC			5	0	0		6	0.33	2	.	0		0	Q08AK5|Q6IPR0|Q6PI49|Q8IZM7|Q8TDH6|Q96N30|Q9H759	RNA	INS	ENST00000443455.1	37																																																																																						0.366	ANKRD36B-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000328967.2		NM_025190	
CHST10	9486	mdanderson.org	37	2	101014548	101014548	+	Missense_Mutation	SNP	C	C	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:101014548C>A	ENST00000264249.3	-	5	634	c.249G>T	c.(247-249)gaG>gaT	p.E83D	CHST10_ENST00000542617.1_Missense_Mutation_p.E131D|CHST10_ENST00000409701.1_Missense_Mutation_p.E83D	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	83					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTCCAGGCGCTCCATGTAGA	0.547																																					p.E83D													.	.			0			c.G249T												125.0	127.0	126.0					2																	101014548		2203	4300	6503	SO:0001583	missense	9486	exon5			CAGGCGCTCCATG	BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.249G>T	2.37:g.101014548C>A	ENSP00000264249:p.Glu83Asp		59	0	0		46	0.07	3	NM_004854	38	0.00	0	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.874091	0.51695	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989;ENST00000421474	T;T;T;T;T;T;T	0.72167	-0.59;-0.63;-0.59;0.77;0.75;0.56;0.67	5.59	1.85	0.25348	.	0.458224	0.24490	N	0.038064	T	0.59878	0.2226	L	0.50333	1.59	0.44579	D	0.997545	B	0.11235	0.004	B	0.06405	0.002	T	0.50955	-0.8766	10	0.32370	T	0.25	-24.0115	8.4865	0.33074	0.0:0.5774:0.0:0.4226	.	83	O43529	CHSTA_HUMAN	D	83;131;83;83;83;131;83	ENSP00000264249:E83D;ENSP00000438869:E131D;ENSP00000387309:E83D;ENSP00000387121:E83D;ENSP00000405922:E83D;ENSP00000387977:E131D;ENSP00000407525:E83D	ENSP00000264249:E83D	E	-	3	2	CHST10	100380980	1.000000	0.71417	0.976000	0.42696	0.962000	0.63368	0.924000	0.28777	0.328000	0.23435	-0.137000	0.14449	GAG			0.547	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253162.1		NM_004854	
SLC11A1	6556	mdanderson.org	37	2	219257813	219257813	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr2:219257813C>T	ENST00000233202.6	+	12	1614	c.1274C>T	c.(1273-1275)tCg>tTg	p.S425L	SLC11A1_ENST00000539932.1_Missense_Mutation_p.S307L	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	425					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGACTTGTCGGGCCTCAAT	0.652																																					p.S425L													.	.			0			c.C1274T												86.0	65.0	72.0					2																	219257813		2203	4300	6503	SO:0001583	missense	6556	exon12			ACTTGTCGGGCCT	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.1274C>T	2.37:g.219257813C>T	ENSP00000233202:p.Ser425Leu		51	0.0196078431	1		45	0.07	3	NM_000578	0		0	C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459551	0.63401	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.68181	-0.31;-0.31	4.6	4.6	0.57074	.	0.108661	0.38217	N	0.001774	T	0.66877	0.2834	L	0.45698	1.435	0.54753	D	0.999986	P;P	0.51537	0.946;0.885	P;P	0.46659	0.523;0.523	T	0.72928	-0.4143	10	0.72032	D	0.01	-10.8092	17.6413	0.88137	0.0:1.0:0.0:0.0	.	307;425	C0H5Y3;P49279	.;NRAM1_HUMAN	L	425;307	ENSP00000233202:S425L;ENSP00000443435:S307L	ENSP00000233202:S425L	S	+	2	0	SLC11A1	218966057	1.000000	0.71417	0.303000	0.25071	0.001000	0.01503	7.266000	0.78452	2.396000	0.81511	0.563000	0.77884	TCG			0.652	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195076.2		NM_000578	
PTPRA	5786	mdanderson.org	37	20	3017924	3017924	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:3017924G>T	ENST00000216877.6	+	22	2696	c.2296G>T	c.(2296-2298)Gtc>Ttc	p.V766F	PTPRA_ENST00000425918.2_Missense_Mutation_p.V786F|PTPRA_ENST00000356147.3_Missense_Mutation_p.V766F|PTPRA_ENST00000358719.4_Missense_Mutation_p.V631F|PTPRA_ENST00000318266.5_Missense_Mutation_p.V766F|PTPRA_ENST00000399903.2_Missense_Mutation_p.V775F|PTPRA_ENST00000380393.3_Missense_Mutation_p.V775F	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	775	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCACACATGGTCCAGACACT	0.587																																					p.V775F													.	.			0			c.G2323T												103.0	95.0	98.0					20																	3017924		2203	4300	6503	SO:0001583	missense	5786	exon27			CACATGGTCCAGA		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.2296G>T	20.37:g.3017924G>T	ENSP00000216877:p.Val766Phe		51	0	0		38	0.08	3	NM_002836	117	0.00	0	A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443157	0.96187	.	.	ENSG00000132670	ENST00000380393;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000542217;ENST00000425918;ENST00000318266;ENST00000356147	D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000001	D	0.96207	0.8763	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.95447	0.8531	10	0.42905	T	0.14	.	20.3078	0.98634	0.0:0.0:1.0:0.0	.	786;775;766	B7Z2A4;P18433;P18433-4	.;PTPRA_HUMAN;.	F	775;766;775;631;385;786;766;766	ENSP00000369756:V775F;ENSP00000216877:V766F;ENSP00000382787:V775F;ENSP00000351559:V631F;ENSP00000393553:V786F;ENSP00000314568:V766F;ENSP00000348468:V766F	ENSP00000216877:V766F	V	+	1	0	PTPRA	2965924	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.796000	0.99103	2.794000	0.96219	0.650000	0.86243	GTC			0.587	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077682.3			
RRBP1	6238	ucsc.edu	37	20	17639714	17639714	+	Missense_Mutation	SNP	T	T	C			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	T	T					Unknown	Untested	Somatic		RNA-Seq	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:17639714T>C	ENST00000377813.1	-	3	1742	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	RRBP1_ENST00000246043.4_Missense_Mutation_p.K480R|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000377807.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	480	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						CTCAGCCTTCTTGCCCTGGTT	0.627																																					.													.	RRBP1	157		0			.																																									SO:0001583	missense	6238	.			GCCTTCTTGCCCT	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.1439A>G	20.37:g.17639714T>C	ENSP00000367044:p.Lys480Arg		181	0	0		109	0.01	1	.	315	0.17	52	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	ENST00000377813.1	37		.	.	.	.	.	.	.	.	.	.	T	16.14	3.038024	0.54896	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.42513	0.97;0.97	4.5	2.13	0.27403	.	0.209202	0.23664	N	0.045791	T	0.29556	0.0737	.	.	.	0.25185	N	0.990172	.	.	.	.	.	.	T	0.13388	-1.0511	7	0.27785	T	0.31	-16.8577	5.0769	0.14636	0.1612:0.0937:0.0:0.7451	.	.	.	.	R	480	ENSP00000367044:K480R;ENSP00000246043:K480R	ENSP00000246043:K480R	K	-	2	0	RRBP1	17587714	0.000000	0.05858	0.156000	0.22583	0.008000	0.06430	-0.854000	0.04299	0.295000	0.22570	0.459000	0.35465	AAG			0.627	RRBP1-002	NOVEL	basic	protein_coding	protein_coding		OTTHUMT00000078125.1		NM_001042576	
MYH7B	57644	hgsc.bcm.edu;mdanderson.org	37	20	33583281	33583281	+	Missense_Mutation	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:33583281G>A	ENST00000262873.7	+	26	3061	c.2969G>A	c.(2968-2970)cGc>cAc	p.R990H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	948						membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCCCGCCGGCGCAAGCTGGAG	0.592																																					p.R990H													.	.			0			c.G2969A												55.0	52.0	53.0					20																	33583281		2203	4300	6503	SO:0001583	missense	57644	exon28			GCCGGCGCAAGCT	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.2969G>A	20.37:g.33583281G>A	ENSP00000262873:p.Arg990His		83	0	0		72	0.06	4	NM_020884	2	0.00	0	Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.500059	0.96355	.	.	ENSG00000078814	ENST00000262873	D	0.86230	-2.09	5.35	5.35	0.76521	.	0.000000	0.36409	N	0.002602	D	0.94282	0.8163	M	0.93808	3.46	0.58432	D	0.999998	D	0.76494	0.999	P	0.56088	0.791	D	0.95345	0.8441	10	0.87932	D	0	.	19.3114	0.94188	0.0:0.0:1.0:0.0	.	948	A7E2Y1	MYH7B_HUMAN	H	990	ENSP00000262873:R990H	ENSP00000262873:R990H	R	+	2	0	MYH7B	33046942	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	9.652000	0.98499	2.808000	0.96608	0.650000	0.86243	CGC			0.592	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000078833.2		NM_020884	
HELZ2	85441	mdanderson.org	37	20	62198382	62198382	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr20:62198382G>T	ENST00000467148.1	-	6	2398	c.2329C>A	c.(2329-2331)Cac>Aac	p.H777N	HELZ2_ENST00000427522.2_Missense_Mutation_p.H208N	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	777	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AGCGGGTAGTGCCGGGGGTGG	0.652																																					p.H777N													.	.			0			c.C2329A												57.0	54.0	55.0					20																	62198382		2202	4299	6501	SO:0001583	missense	85441	exon7			GGTAGTGCCGGGG	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.2329C>A	20.37:g.62198382G>T	ENSP00000417401:p.His777Asn		61	0	0		41	0.07	3	NM_001037335	93	0.00	0	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	1.312	-0.601836	0.03744	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.91996	-2.95;-2.95	5.32	3.23	0.37069	.	1.146510	0.06179	N	0.679155	D	0.87362	0.6158	L	0.42245	1.32	0.09310	N	1	B;B	0.22146	0.065;0.053	B;B	0.21917	0.037;0.022	T	0.72747	-0.4200	10	0.14252	T	0.57	-15.1698	6.2905	0.21057	0.1776:0.0:0.6172:0.2052	.	777;208	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	N	208;777	ENSP00000393257:H208N;ENSP00000417401:H777N	ENSP00000393257:H208N	H	-	1	0	RP4-697K14.7	61668826	0.000000	0.05858	0.009000	0.14445	0.032000	0.12392	0.159000	0.16442	1.261000	0.44149	0.561000	0.74099	CAC			0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000354127.1		NM_001037335	
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	3'UTR	SNP	G	G	A	rs9306211	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622																																					.													.	.			0			.																																									SO:0001624	3_prime_UTR_variant	0	.			CTCGGCGCTCGAT																												ENST00000412938.1:c.*3453G>A	22.37:g.18846098G>A			91	0.021978022	2		126	0.08	10	.	10	0.00	0		RNA	SNP	ENST00000412938.1	37																																																																																						0.622	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding		OTTHUMT00000471615.1			
RASL10A	10633	mdanderson.org	37	22	29709863	29709863	+	Silent	SNP	G	G	T	rs148807115		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr22:29709863G>T	ENST00000216101.6	-	2	842	c.333C>A	c.(331-333)atC>atA	p.I111I	RASL10A_ENST00000401450.3_Silent_p.I111I|AC002059.10_ENST00000608014.1_RNA|RASL10A_ENST00000608559.1_5'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	111	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						TGGTCTCCGCGATGCGCTGCC	0.637																																					p.I111I													.	.			0			c.C333A												45.0	46.0	45.0					22																	29709863		2203	4300	6503	SO:0001819	synonymous_variant	10633	exon2			CTCCGCGATGCGC	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.333C>A	22.37:g.29709863G>T			31	0	0		31	0.10	3	NM_006477	26	0.00	0	Q49AU5|Q6PI03	Silent	SNP	ENST00000216101.6	37	CCDS13854.1																																																																																					0.637	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321342.1			
ATRIP	84126	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	48488478	48488478	+	Missense_Mutation	SNP	G	G	T	rs372906254		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:48488478G>T	ENST00000320211.3	+	1	342	c.229G>T	c.(229-231)Gcg>Tcg	p.A77S	RP11-24C3.2_ENST00000435578.1_RNA|ATRIP_ENST00000412052.1_5'Flank|RP11-24C3.2_ENST00000438872.1_RNA|ATRIP_ENST00000357105.6_Intron|ATRIP_ENST00000346691.4_Missense_Mutation_p.A77S	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	77					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTCCGGCCGCGGCTCGGGA	0.662								Other conserved DNA damage response genes																													p.A77S													.	.			0			c.G229T												17.0	19.0	18.0					3																	48488478		2162	4229	6391	SO:0001583	missense	84126	exon1			CCGGCCGCGGCTC	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.229G>T	3.37:g.48488478G>T	ENSP00000323099:p.Ala77Ser		35	0	0		38	0.13	5	NM_130384	25	0.52	13	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	G	0.185	-1.058548	0.01950	.	.	ENSG00000164053	ENST00000320211;ENST00000346691	T;T	0.30981	1.51;1.51	4.85	1.88	0.25563	.	0.573563	0.18644	N	0.135202	T	0.15262	0.0368	N	0.25647	0.755	0.19775	N	0.999954	B;B	0.23249	0.034;0.082	B;B	0.22601	0.027;0.04	T	0.31392	-0.9945	10	0.07325	T	0.83	-0.3385	4.9388	0.13954	0.2088:0.1732:0.6181:0.0	.	77;77	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	S	77	ENSP00000323099:A77S;ENSP00000302338:A77S	ENSP00000323099:A77S	A	+	1	0	ATRIP	48463482	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.040000	0.12104	0.254000	0.21573	0.609000	0.83330	GCG			0.662	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257507.2		NM_130384	
KIAA2018	205717	ucsc.edu	37	3	113376116	113376116	+	Silent	SNP	C	C	T	rs112313093|rs59601191		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic		WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:113376116C>T	ENST00000478658.1	-	5	4430	c.4413G>A	c.(4411-4413)caG>caA	p.Q1471Q	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Silent_p.Q1471Q			Q68DE3	K2018_HUMAN	KIAA2018	1471	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						gctgttgctgctgctgctgct	0.498																																					p.Q1471Q													.	KIAA2018	180		0			c.G4413A												63.0	72.0	69.0					3																	113376116		2187	4278	6465	SO:0001819	synonymous_variant	205717	exon7			TTGCTGCTGCTGC	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4413G>A	3.37:g.113376116C>T			60	0.0166666667	1		50	0.16	8	NM_001009899	3	0.00	0	Q7Z3L9|Q8IVF3|Q9H8T4	Silent	SNP	ENST00000478658.1	37	CCDS43133.1																																																																																					0.498	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000354591.1		NM_001009899	
DNAJC13	23317	broad.mit.edu	37	3	132172516	132172516	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:132172516C>T	ENST00000260818.6	+	8	1066	c.818C>T	c.(817-819)gCa>gTa	p.A273V	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	273					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATAATATTGCAACATTGAAG	0.299																																					p.A273V													.	DNAJC13	253		0			c.C818T												100.0	112.0	108.0					3																	132172516		2203	4299	6502	SO:0001583	missense	23317	exon8			ATATTGCAACATT	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.818C>T	3.37:g.132172516C>T	ENSP00000260818:p.Ala273Val		41	0	0		37	0.08	3	NM_015268	49	0.00	0	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	37	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	4.685	0.127305	0.08981	.	.	ENSG00000138246	ENST00000260818	T	0.42513	0.97	5.64	5.64	0.86602	.	0.070747	0.64402	D	0.000013	T	0.09992	0.0245	N	0.00214	-1.84	0.38122	D	0.937882	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.37776	-0.9691	10	0.02654	T	1	.	11.165	0.48537	0.0:0.8575:0.0:0.1425	.	273;273	A7E2Y5;O75165	.;DJC13_HUMAN	V	273	ENSP00000260818:A273V	ENSP00000260818:A273V	A	+	2	0	DNAJC13	133655206	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.921000	0.40035	2.645000	0.89757	0.650000	0.86243	GCA			0.299	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000356807.2		NM_015268	
MCF2L2	23101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	183013184	183013184	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:183013184C>T	ENST00000328913.3	-	13	1876	c.1579G>A	c.(1579-1581)Gca>Aca	p.A527T	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A527T|B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A527T|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A527T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	527							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGTTTGGCTGCCAGTTTCATC	0.498																																					p.A527T													.	.			0			c.G1579A												175.0	149.0	158.0					3																	183013184		2203	4300	6503	SO:0001583	missense	23101	exon13			TGGCTGCCAGTTT	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1579G>A	3.37:g.183013184C>T	ENSP00000328118:p.Ala527Thr		181	0	0		190	0.33	63	NM_015078	12	0.58	7	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.201863	0.79127	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025;ENST00000437431;ENST00000414362	T;T;T;T	0.06218	4.47;4.49;3.6;3.33	4.82	4.82	0.62117	.	0.069898	0.64402	D	0.000013	T	0.23094	0.0558	M	0.72118	2.19	0.80722	D	1	D;D	0.62365	0.984;0.991	P;D	0.63283	0.828;0.913	T	0.00388	-1.1771	10	0.51188	T	0.08	.	18.1577	0.89699	0.0:1.0:0.0:0.0	.	527;527	Q86YR7-2;Q86YR7	.;MF2L2_HUMAN	T	527;527;527;63;527	ENSP00000328118:A527T;ENSP00000420070:A527T;ENSP00000388190:A527T;ENSP00000414131:A527T	ENSP00000328118:A527T	A	-	1	0	MCF2L2	184495878	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.446000	0.66600	2.535000	0.85469	0.650000	0.86243	GCA			0.498	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350868.1		NM_015078	
MUC4	4585	broad.mit.edu	37	3	195515102	195515102	+	Missense_Mutation	SNP	G	G	C	rs199995135		TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr3:195515102G>C	ENST00000463781.3	-	2	3808	c.3349C>G	c.(3349-3351)Cac>Gac	p.H1117D	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H1117D|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	556					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H1117D(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGGTGGTGTGACCTGTGGAT	0.567																																					p.H1117D													MUC4_ENST00000463781,NS,carcinoma,0,1	MUC4	1505	1	1	Substitution - Missense(1)	kidney(1)	c.C3349G												14.0	8.0	9.0					3																	195515102		671	1542	2213	SO:0001583	missense	4585	exon2			TGGTGTGACCTGT	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3349C>G	3.37:g.195515102G>C	ENSP00000417498:p.His1117Asp		149	0	0		109	0.04	4	NM_018406	4	0.00	0	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	0.907	-0.720205	0.03182	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.44	0.814	-1.63	0.08345	.	.	.	.	.	T	0.14270	0.0345	N	0.19112	0.55	0.09310	N	1	B	0.14805	0.011	B	0.21546	0.035	T	0.28170	-1.0052	8	.	.	.	.	0.2358	0.00186	0.3536:0.2031:0.2397:0.2036	.	1117	E7ESK3	.	D	1117	ENSP00000417498:H1117D;ENSP00000420243:H1117D	.	H	-	1	0	MUC4	196999497	0.000000	0.05858	0.000000	0.03702	0.130000	0.20726	-2.660000	0.00851	-2.057000	0.00897	0.064000	0.15345	CAC			0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000324081.6		NM_018406	
FGFRL1	53834	mdanderson.org	37	4	1018719	1018719	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr4:1018719G>T	ENST00000398484.2	+	8	1679	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S	RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.A367S|FGFRL1_ENST00000264748.6_Missense_Mutation_p.A367S|FGFRL1_ENST00000504138.1_Missense_Mutation_p.A367S			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	367					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCACCTGTGGCCTCCTCGTC	0.652																																					p.A367S													.	.			0			c.G1099T												25.0	30.0	28.0					4																	1018719		2198	4292	6490	SO:0001583	missense	53834	exon7			CCTGTGGCCTCCT		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1099G>T	4.37:g.1018719G>T	ENSP00000381498:p.Ala367Ser		25	0	0		33	0.09	3	NM_001004356	104	0.00	0	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.633325	0.47049	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	4.81	4.81	0.61882	.	0.426017	0.21170	N	0.078985	T	0.58637	0.2136	L	0.36672	1.1	0.31483	N	0.666958	B	0.17268	0.021	B	0.17433	0.018	T	0.55431	-0.8142	10	0.11794	T	0.64	-23.2732	13.4444	0.61131	0.0:0.1706:0.8294:0.0	.	367	Q8N441	FGRL1_HUMAN	S	367;337;367;367;367	ENSP00000381498:A367S;ENSP00000425025:A367S;ENSP00000423091:A367S;ENSP00000264748:A367S	ENSP00000264748:A367S	A	+	1	0	FGFRL1	1008719	1.000000	0.71417	0.957000	0.39632	0.785000	0.44390	1.948000	0.40303	2.243000	0.73865	0.651000	0.88453	GCC			0.652	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239195.2		NM_021923	
GABRG1	2565	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	4	46053563	46053563	+	Missense_Mutation	SNP	C	C	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr4:46053563C>G	ENST00000295452.4	-	8	1176	c.1009G>C	c.(1009-1011)Gtt>Ctt	p.V337L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	337					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAAACAGAAACAAAGAGATCC	0.383																																					p.V337L													.	.			0			c.G1009C												109.0	98.0	102.0					4																	46053563		2203	4300	6503	SO:0001583	missense	2565	exon8			CAGAAACAAAGAG	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1009G>C	4.37:g.46053563C>G	ENSP00000295452:p.Val337Leu		66	0	0		56	0.11	6	NM_173536	0		0	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122199	0.94429	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.83335	-1.71	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84469	0.5479	N	0.17564	0.495	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82466	-0.0443	10	0.24483	T	0.36	.	18.7036	0.91630	0.0:1.0:0.0:0.0	.	337	Q8N1C3	GBRG1_HUMAN	L	337	ENSP00000295452:V337L	ENSP00000295452:V337L	V	-	1	0	GABRG1	45748320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.664000	0.90586	0.655000	0.94253	GTT			0.383	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250470.1		NM_173536	
ANKHD1	54882	mdanderson.org	37	5	139781730	139781730	+	Missense_Mutation	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr5:139781730G>A	ENST00000360839.2	+	1	332	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	CTC-329D1.2_ENST00000507521.1_RNA|ANKHD1_ENST00000394722.3_Missense_Mutation_p.G60S|ANKHD1_ENST00000394723.3_Missense_Mutation_p.G60S|ANKHD1_ENST00000297183.6_Missense_Mutation_p.G60S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G60S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	60	Gly-rich.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			cggcagcagcggcggcggcgg	0.756																																					p.G60S													ANKHD1-EIF4EBP3,NS,carcinoma,0,2	ANKHD1-EIF4EBP3	0	2	0			c.G178A																																									SO:0001583	missense	54882	exon1			AGCAGCGGCGGCG	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.178G>A	5.37:g.139781730G>A	ENSP00000354085:p.Gly60Ser		24	0	0		33	0.09	3	NM_024668	36	0.03	1	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663652	0.47572	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000511151;ENST00000394722;ENST00000532219	T;T;T;T;T;T;T	0.66815	-0.12;-0.17;-0.14;-0.1;-0.23;-0.01;-0.17	4.8	1.98	0.26296	.	0.127893	0.34555	N	0.003870	T	0.61451	0.2348	N	0.24115	0.695	0.22366	N	0.999162	D;D;D;D;P	0.71674	0.998;0.996;0.996;0.998;0.836	D;P;P;D;B	0.65443	0.935;0.862;0.862;0.935;0.038	T	0.52586	-0.8556	10	0.17369	T	0.5	.	6.4517	0.21908	0.4177:0.0:0.5823:0.0	.	60;60;60;60;60	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	S	60;74;60;60;60;60;60;60;60	ENSP00000354085:G60S;ENSP00000297183:G60S;ENSP00000394489:G60S;ENSP00000378212:G60S;ENSP00000421069:G60S;ENSP00000378211:G60S;ENSP00000432016:G60S	ENSP00000432016:G60S	G	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139761914	0.926000	0.31397	0.971000	0.41717	0.367000	0.29736	0.608000	0.24223	0.224000	0.20940	0.505000	0.49811	GGC			0.756	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000251672.1		NM_017747	
HMGXB3	22993	mdanderson.org	37	5	149417004	149417004	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr5:149417004G>T	ENST00000502717.1	+	13	2791	c.2327G>T	c.(2326-2328)aGc>aTc	p.S776I	HMGXB3_ENST00000503427.1_Missense_Mutation_p.S744I	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	1022					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						CTGACAGCCAGCCGTCTGCAG	0.532																																					p.S776I													.	.			0			c.G2327T												36.0	34.0	34.0					5																	149417004		692	1591	2283	SO:0001583	missense	22993	exon13			CAGCCAGCCGTCT	D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.2327G>T	5.37:g.149417004G>T	ENSP00000421917:p.Ser776Ile		61	0.0163934426	1		46	0.07	3	NM_014983	74	0.00	0	G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	ENST00000502717.1	37	CCDS54935.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230258	0.39399	.	.	ENSG00000113716	ENST00000503427;ENST00000502717	.	.	.	4.86	-2.69	0.06022	.	0.568746	0.21222	N	0.078126	T	0.30103	0.0754	L	0.40543	1.245	0.09310	N	1	B	0.33000	0.393	B	0.30316	0.114	T	0.20739	-1.0266	9	0.87932	D	0	-1.5071	12.9016	0.58128	0.6507:0.0:0.3493:0.0	.	1022	Q12766	HMGX3_HUMAN	I	744;776	.	ENSP00000421917:S776I	S	+	2	0	HMGXB3	149397197	0.000000	0.05858	0.909000	0.35828	0.943000	0.58893	0.010000	0.13242	-0.575000	0.05982	0.650000	0.86243	AGC			0.532	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373771.1		XM_001717202	
MDN1	23195	mdanderson.org	37	6	90384205	90384205	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr6:90384205G>T	ENST00000369393.3	-	79	12980	c.12865C>A	c.(12865-12867)Cgc>Agc	p.R4289S	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.R4289S|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4289					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTGCAGGCGCTCTGTCCAC	0.652																																					p.R4289S													MDN1,NS,carcinoma,+1,1	MDN1	1	1	0			c.C12865A												22.0	23.0	23.0					6																	90384205		2203	4298	6501	SO:0001583	missense	23195	exon79			GCAGGCGCTCTGT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12865C>A	6.37:g.90384205G>T	ENSP00000358400:p.Arg4289Ser		34	0	0		29	0.10	3	NM_014611	104	0.00	0	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078659	0.36662	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03065	4.06;4.06	5.87	4.83	0.62350	.	0.173828	0.49305	D	0.000148	T	0.01454	0.0047	L	0.54323	1.7	0.34567	D	0.713035	P	0.44090	0.826	B	0.38056	0.264	T	0.30563	-0.9974	10	0.06757	T	0.87	.	13.4375	0.61092	0.0:0.0:0.6097:0.3903	.	4289	Q9NU22	MDN1_HUMAN	S	4289	ENSP00000358400:R4289S;ENSP00000413970:R4289S	ENSP00000358400:R4289S	R	-	1	0	MDN1	90440926	0.413000	0.25400	1.000000	0.80357	0.979000	0.70002	1.775000	0.38584	1.262000	0.44165	0.655000	0.94253	CGC			0.652	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2			
SNX13	23161	broad.mit.edu;mdanderson.org	37	7	17836517	17836517	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:17836517G>T	ENST00000409389.1	-	25	2764	c.2592C>A	c.(2590-2592)tgC>tgA	p.C864*	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Nonsense_Mutation_p.C853*			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	864					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTATCTCTGCATGGAACAG	0.318																																					p.C853X													.	SNX13	113		0			c.C2559A												181.0	166.0	171.0					7																	17836517		1827	4090	5917	SO:0001587	stop_gained	23161	exon25			ATCTCTGCATGGA	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.2592C>A	7.37:g.17836517G>T	ENSP00000386705:p.Cys864*		48	0	0		82	0.05	4	NM_015132	45	0.00	0	B2RCI9|O94821|Q8WVZ2|Q8WXH8	Nonsense_Mutation	SNP	ENST00000409389.1	37		.	.	.	.	.	.	.	.	.	.	G	40	8.419835	0.98803	.	.	ENSG00000071189	ENST00000409389;ENST00000428135;ENST00000242044	.	.	.	5.41	4.52	0.55395	.	0.091100	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-5.5247	11.194	0.48703	0.0734:0.1351:0.7914:0.0	.	.	.	.	X	864;853;901	.	ENSP00000242044:C901X	C	-	3	2	SNX13	17803042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.573000	0.46007	2.529000	0.85273	0.557000	0.71058	TGC			0.318	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000327608.1		NM_015132	
MTURN	222166	hgsc.bcm.edu	37	7	30185862	30185862	+	Missense_Mutation	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:30185862G>T	ENST00000324453.8	+	2	559	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C	C7orf41_ENST00000455738.1_Missense_Mutation_p.G45C|C7orf41_ENST00000415604.1_Missense_Mutation_p.G78C|C7orf41_ENST00000409688.1_Intron|C7orf41_ENST00000324489.5_Missense_Mutation_p.G45C	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		78					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						CTCCTCCTGCGGCAAGAAGAC	0.537																																					p.G78C													.	.			0			c.G232T												71.0	66.0	68.0					7																	30185862		2203	4300	6503	SO:0001583	missense	222166	exon2			TCCTGCGGCAAGA																												ENST00000324453.8:c.232G>T	7.37:g.30185862G>T	ENSP00000324204:p.Gly78Cys		107	0	0		145	0.03	5	NM_152793	133	0.00	0	B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Missense_Mutation	SNP	ENST00000324453.8	37	CCDS5425.2	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587478	0.66105	.	.	ENSG00000180354	ENST00000324453;ENST00000415604;ENST00000434060;ENST00000324489;ENST00000455738	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	N	0.24115	0.695	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.70092	-0.4967	9	0.72032	D	0.01	-19.9569	18.5448	0.91042	0.0:0.0:1.0:0.0	.	78	Q8N3F0	CG041_HUMAN	C	78;78;61;45;45	.	ENSP00000324204:G78C	G	+	1	0	C7orf41	30152387	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.840000	0.86819	2.622000	0.88805	0.549000	0.68633	GGC			0.537	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250409.1			
Unknown	0	hgsc.bcm.edu	37	7	72606495	72606495	+	IGR	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:72606495C>T								AC006995.8 (82061 upstream) : NCF1B (28178 downstream)																							GTGAGGCCACCACTGTACTGG	0.398																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	2970	.			GGCCACCACTGTA																													7.37:g.72606495C>T			179	0	0		193	0.28	55	.	0		0		RNA	SNP		37																																																																																					0	0.398										
TECPR1	25851	mdanderson.org	37	7	97861128	97861128	+	Missense_Mutation	SNP	G	G	T	rs201920447	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr7:97861128G>T	ENST00000447648.2	-	13	2261	c.1962C>A	c.(1960-1962)caC>caA	p.H654Q	TECPR1_ENST00000542604.1_Missense_Mutation_p.H584Q|TECPR1_ENST00000379795.3_Missense_Mutation_p.H655Q			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	654	PH.				autophagic vacuole fusion (GO:0000046)|autophagy (GO:0006914)	autophagic vacuole membrane (GO:0000421)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCTTCTCCTCGTGGACCACAT	0.647																																					p.H654Q													.	.			0			c.C1962A												90.0	97.0	95.0					7																	97861128		2031	4186	6217	SO:0001583	missense	25851	exon13			CTCCTCGTGGACC		CCDS47648.1	7q21.3	2009-01-30			ENSG00000205356	ENSG00000205356			22214	protein-coding gene	gene with protein product		614781					Standard	NM_015395		Approved	DKFZP434B0335, FLJ23419, FLJ90593, KIAA1358	uc003upg.4	Q7Z6L1	OTTHUMG00000154273	ENST00000447648.2:c.1962C>A	7.37:g.97861128G>T	ENSP00000404923:p.His654Gln		41	0	0		26	0.12	3	NM_015395	16	0.00	0	A8KAD1|B3KPZ1|C9J024|F5GX57|Q96EB0|Q9P2I9|Q9UFR6	Missense_Mutation	SNP	ENST00000447648.2	37	CCDS47648.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883327	0.33255	.	.	ENSG00000205356	ENST00000447648;ENST00000379795;ENST00000542604	T;T;T	0.28895	1.59;1.59;1.59	5.25	-2.86	0.05717	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.230351	0.44483	D	0.000454	T	0.21962	0.0529	L	0.41236	1.265	0.25190	N	0.990135	B;B	0.27316	0.175;0.065	B;B	0.28638	0.092;0.009	T	0.18587	-1.0332	10	0.35671	T	0.21	-20.6989	12.5263	0.56087	0.7234:0.0:0.2766:0.0	.	584;654	F5GX57;Q7Z6L1	.;TCPR1_HUMAN	Q	654;655;584	ENSP00000404923:H654Q;ENSP00000369121:H655Q;ENSP00000441121:H584Q	ENSP00000369121:H655Q	H	-	3	2	TECPR1	97699064	0.019000	0.18553	0.985000	0.45067	0.926000	0.56050	-0.763000	0.04740	-0.457000	0.07033	-0.136000	0.14681	CAC			0.647	TECPR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000334661.1		NM_015395	
NSMAF	8439	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	8	59572148	59572148	+	Missense_Mutation	SNP	G	G	C	rs148456704	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr8:59572148G>C	ENST00000038176.3	-	1	255	c.43C>G	c.(43-45)Ctc>Gtc	p.L15V	NSMAF_ENST00000427130.2_5'Flank|snoU13_ENST00000459488.1_RNA	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	15					ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTGGAGTAGAGCTGCAGCTGC	0.721													G|||	10	0.00199681	0.0	0.0	5008	,	,		12352	0.0099		0.0	False		,,,				2504	0.0				p.L15V													.	.			0			c.C43G																																									SO:0001583	missense	8439	exon1			AGTAGAGCTGCAG	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.43C>G	8.37:g.59572148G>C	ENSP00000038176:p.Leu15Val		56	0	0		55	0.07	4	NM_003580	166	0.10	16	B4DFB0|E9PCH0|Q8IW26	Missense_Mutation	SNP	ENST00000038176.3	37	CCDS6173.1	6	0.0027472527472527475	0	0.0	0	0.0	6	0.01048951048951049	0	0.0	G	14.18	2.458621	0.43634	.	.	ENSG00000035681	ENST00000038176	T	0.52754	0.65	2.56	2.56	0.30785	.	1.496370	0.04510	U	0.382740	T	0.30885	0.0779	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15549	-1.0433	9	.	.	.	.	8.6101	0.33797	0.0:0.0:1.0:0.0	.	15;15	A8K9G4;Q92636	.;FAN_HUMAN	V	15	ENSP00000038176:L15V	.	L	-	1	0	NSMAF	59734702	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	3.272000	0.51616	1.420000	0.47138	0.462000	0.41574	CTC	0.003		0.721	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000378384.1		NM_003580	
CIZ1	25792	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	9	130941502	130941502	+	Silent	SNP	C	C	T	rs145714867	byFrequency	TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr9:130941502C>T	ENST00000393608.1	-	8	1186	c.984G>A	c.(982-984)ccG>ccA	p.P328P	CIZ1_ENST00000325721.8_Silent_p.P299P|CIZ1_ENST00000372948.3_Silent_p.P328P|CIZ1_ENST00000372954.1_Silent_p.P304P|CIZ1_ENST00000541172.1_Silent_p.P227P|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000538431.1_Silent_p.P328P|CIZ1_ENST00000372938.5_Silent_p.P328P|CIZ1_ENST00000357558.5_Silent_p.P328P|CIZ1_ENST00000277465.4_Silent_p.P328P	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	328	Gln-rich.				maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						ATGGTATCCGCGGCTGAGTCT	0.617																																					p.P358P													.	.			0			c.G1074A							C	,,,,	2,4404	4.2+/-10.8	0,2,2201	76.0	79.0	78.0		984,984,969,912,984	-2.1	0.1	9	dbSNP_134	78	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CIZ1	NM_001131015.1,NM_001131016.1,NM_001131017.1,NM_001131018.1,NM_012127.2	,,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,,,	328/843,328/899,323/838,304/819,328/899	130941502	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	25792	exon8			TATCCGCGGCTGA	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.984G>A	9.37:g.130941502C>T			62	0	0		59	0.12	7	NM_001257975	219	0.35	76	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Silent	SNP	ENST00000393608.1	37	CCDS6894.1																																																																																			0		0.617	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000054399.1		NM_012127	
MT-ND1	4535	hgsc.bcm.edu	37	M	1068	1068	+	5'Flank	SNP	A	A	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chrM:1068A>G	ENST00000361390.2	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGCTAAGACCCAAACTGGGAT	0.393																																					.													.	.			0			.																																									SO:0001631	upstream_gene_variant	6052	.			GACCCAAACTGGG			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1068A>G	Exception_encountered		15	0	0		8	0.50	4	.	0		0	C0JKH6|Q37523	RNA	SNP	ENST00000361390.2	37																																																																																						0.393	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024026	
MT-ND2	4536	hgsc.bcm.edu;broad.mit.edu	37	M	2631	2631	+	5'Flank	SNP	G	G	A			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chrM:2631G>A	ENST00000361453.3	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						agggacctgtatgaatggctc	0.507																																					.													.	.			0			.																																									SO:0001631	upstream_gene_variant	6053	.			CTGTATGAATGGC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2631G>A	Exception_encountered		38	0	0		22	0.45	10	.	0		0	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	ENST00000361453.3	37																																																																																						0.507	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024027	
DOCK11	139818	broad.mit.edu	37	X	117742320	117742320	+	Splice_Site	SNP	G	G	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chrX:117742320G>T	ENST00000276202.7	+	26	2940		c.e26+1		DOCK11_ENST00000276204.6_Splice_Site	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTGCTAAAGGTATGAACACA	0.398																																					.													.	DOCK11	185		0			c.2877+1G>T												58.0	60.0	60.0					X																	117742320		2203	4300	6503	SO:0001630	splice_region_variant	139818	exon26			CTAAAGGTATGAA	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2877+1G>T	X.37:g.117742320G>T			141	0	0		183	0.03	5	NM_144658	0		0	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Splice_Site	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527734	0.44969	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3889	0.94570	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOCK11	117626348	1.000000	0.71417	0.997000	0.53966	0.175000	0.22909	9.206000	0.95056	2.618000	0.88619	0.600000	0.82982	.			0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000356002.1		NM_144658	Intron
BAHCC1	57597	mdanderson.org	37	17	79412681	79412681	+	Missense_Mutation	SNP	C	C	T			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr17:79412681C>T	ENST00000307745.7	+	14	3137	c.3137C>T	c.(3136-3138)aCg>aTg	p.T1046M																								CAGCAGTCCACGGCCGACATC	0.692																																					.													.	.			0			.												17.0	23.0	21.0					17																	79412681		1974	4028	6002	SO:0001583	missense	57597	.			AGTCCACGGCCGA																												ENST00000307745.7:c.3137C>T	17.37:g.79412681C>T	ENSP00000303486:p.Thr1046Met		65	0	0		51	0.06	3	.	2	0.00	0		Missense_Mutation	SNP	ENST00000307745.7	37		.	.	.	.	.	.	.	.	.	.	C	2.980	-0.210603	0.06140	.	.	ENSG00000171282	ENST00000307745	T	0.11821	2.74	4.24	-1.68	0.08212	.	1.100690	0.07011	N	0.825114	T	0.05731	0.0150	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.39231	-0.9624	10	0.42905	T	0.14	.	1.4423	0.02357	0.3278:0.1474:0.3818:0.143	.	1046;1046	Q9P281;F8WBW8	BAHC1_HUMAN;.	M	1046	ENSP00000303486:T1046M	ENSP00000303486:T1046M	T	+	2	0	AC110285.1	77027276	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.458000	0.06737	-0.112000	0.11979	-2.703000	0.00135	ACG			0.692	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding					
PRKDC	5591	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	48746932	48746932	+	Silent	SNP	C	C	G			TCGA-XY-A9T9-01A-11D-A435-10	TCGA-XY-A9T9-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	b7cfdf05-2b6a-4413-b224-9beb1b8c1eee	918d43a9-d4cc-4c7e-b938-334abf37a910	g.chr8:48746932C>G	ENST00000314191.2	-	60	8030	c.7974G>C	c.(7972-7974)ctG>ctC	p.L2658L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L2658L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2659	KIP-binding.				B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGCTCCCGGTCAGCCAATCAA	0.572								Non-homologous end-joining																													.	Esophageal Squamous(79;1091 1253 12329 31680 40677)												.	.			0			.												94.0	105.0	101.0					8																	48746932		2185	4282	6467	SO:0001819	synonymous_variant	5591	.			CCCGGTCAGCCAA		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7974G>C	8.37:g.48746932C>G			88	0	0		121	0.08	10	.	288	0.14	41	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37																																																																																						0.572	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001081640	
