#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
OR10K1	391109	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	158436256	158436256	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158436256G>A	ENST00000289451.2	+	1	985	c.905G>A	c.(904-906)cGa>cAa	p.R302Q		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCAGCCCTACGAAGAACAATC	0.373																																						.											0													95.0	92.0	93.0					1																	158436256		2203	4300	6503	SO:0001583	missense	391109			AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.905G>A	1.37:g.158436256G>A	ENSP00000289451:p.Arg302Gln		Q6IFS2	Missense_Mutation	SNP	ENST00000289451.2	37	CCDS30897.1	.	.	.	.	.	.	.	.	.	.	g	10.79	1.449402	0.26074	.	.	ENSG00000173285	ENST00000289451	T	0.39406	1.08	4.24	-0.868	0.10652	.	1.305430	0.05653	N	0.585547	T	0.10809	0.0264	N	0.25957	0.775	0.09310	N	1	B	0.14438	0.01	B	0.04013	0.001	T	0.28996	-1.0026	10	0.41790	T	0.15	.	5.2439	0.15487	0.4324:0.142:0.4256:0.0	.	302	Q8NGX5	O10K1_HUMAN	Q	302	ENSP00000289451:R302Q	ENSP00000289451:R302Q	R	+	2	0	OR10K1	156702880	0.000000	0.05858	0.009000	0.14445	0.065000	0.16274	-0.882000	0.04174	-0.401000	0.07644	-0.232000	0.12228	CGA		0.373	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1		
CPSF7	79869	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	61183901	61183901	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:61183901C>T	ENST00000394888.4	-	6	813	c.641G>A	c.(640-642)cGt>cAt	p.R214H	CPSF7_ENST00000340437.4_Missense_Mutation_p.R257H|CPSF7_ENST00000448745.1_Missense_Mutation_p.R205H|CPSF7_ENST00000439958.3_Missense_Mutation_p.R205H	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	214					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CTTATCCACACGAGCAGATGA	0.582																																						.											0													112.0	108.0	109.0					11																	61183901		2202	4299	6501	SO:0001583	missense	79869				CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.641G>A	11.37:g.61183901C>T	ENSP00000378352:p.Arg214His		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	C	17.74	3.465019	0.63513	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000477890;ENST00000539952;ENST00000544585	.	.	.	5.14	4.23	0.50019	.	0.220163	0.39834	N	0.001242	T	0.40222	0.1108	N	0.24115	0.695	0.80722	D	1	B;B;B;B	0.15141	0.001;0.002;0.012;0.003	B;B;B;B	0.08055	0.001;0.0;0.003;0.001	T	0.18808	-1.0325	9	0.17369	T	0.5	-3.5682	11.7089	0.51614	0.0:0.9178:0.0:0.0822	.	205;214;257;205	B4DGF8;Q8N684;Q8N684-3;Q8N684-2	.;CPSF7_HUMAN;.;.	H	257;214;205;205;205;205;205	.	ENSP00000345412:R257H	R	-	2	0	CPSF7	60940477	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.863000	0.69568	1.400000	0.46741	-0.136000	0.14681	CGT		0.582	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811	
GDPD5	81544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	75152734	75152734	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:75152734G>A	ENST00000336898.3	-	13	2119	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	GDPD5_ENST00000526177.1_Missense_Mutation_p.R290W|GDPD5_ENST00000376282.3_Missense_Mutation_p.R309W|GDPD5_ENST00000533784.1_Missense_Mutation_p.R309W|GDPD5_ENST00000529721.1_Missense_Mutation_p.R428W|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000533805.1_Missense_Mutation_p.R183W	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	428	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGTTCAGCCGCTGGATGTGG	0.667																																						.											0													30.0	28.0	28.0					11																	75152734		2200	4292	6492	SO:0001583	missense	81544			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1282C>T	11.37:g.75152734G>A	ENSP00000337972:p.Arg428Trp		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	16.14	3.040109	0.55003	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.11604	2.76;2.76;2.76;2.76;2.76;2.76;2.76	5.14	-8.74	0.00838	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.925450	0.09262	N	0.826356	T	0.06371	0.0164	L	0.47190	1.495	0.53005	D	0.999964	B;B	0.20671	0.047;0.004	B;B	0.12156	0.007;0.0	T	0.32214	-0.9915	10	0.37606	T	0.19	-5.4375	2.1938	0.03906	0.4485:0.0881:0.1186:0.3448	.	309;428	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	W	290;309;428;428;183;309;12	ENSP00000434050:R290W;ENSP00000437049:R309W;ENSP00000433214:R428W;ENSP00000337972:R428W;ENSP00000435196:R183W;ENSP00000365459:R309W;ENSP00000435728:R12W	ENSP00000337972:R428W	R	-	1	2	GDPD5	74830382	0.015000	0.18098	0.823000	0.32752	0.972000	0.66771	-0.738000	0.04871	-1.260000	0.02465	0.552000	0.68991	CGG		0.667	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792	
COL16A1	1307	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	32148832	32148832	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:32148832C>T	ENST00000373672.3	-	36	2948	c.2432G>A	c.(2431-2433)cGg>cAg	p.R811Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.R810Q|COL16A1_ENST00000373668.3_Missense_Mutation_p.R811Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	811	Collagen-like 4.|Triple-helical region 5 (COL5) with 3 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGTGGTCCCCGAGGTCCCGG	0.597																																					Colon(143;498 1786 21362 25193 36625)	.											0													89.0	98.0	95.0					1																	32148832		1927	4139	6066	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.2432G>A	1.37:g.32148832C>T	ENSP00000362776:p.Arg811Gln		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	C	15.22	2.768237	0.49680	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715;ENST00000373668	D;D;D;D	0.96011	-3.23;-3.88;-3.23;-3.23	5.53	0.00441	0.14058	.	0.283230	0.32753	N	0.005683	D	0.89808	0.6822	L	0.35723	1.085	0.30861	N	0.733544	B;B;B	0.19331	0.035;0.006;0.005	B;B;B	0.17722	0.019;0.005;0.003	T	0.80603	-0.1309	10	0.23891	T	0.37	.	8.9131	0.35565	0.0:0.5899:0.0:0.4101	.	811;811;811	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	Q	811;810;32;811	ENSP00000362776:R811Q;ENSP00000271069:R810Q;ENSP00000411457:R32Q;ENSP00000362772:R811Q	ENSP00000271069:R810Q	R	-	2	0	COL16A1	31921419	0.001000	0.12720	0.883000	0.34634	0.976000	0.68499	-0.316000	0.08071	-0.158000	0.11040	-0.251000	0.11542	CGG		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
KLHL33	123103	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	14	20898390	20898390	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr14:20898390C>T	ENST00000344581.4	-	2	667	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	149												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		TCCTGGGTCTCGGGGTTGGCA	0.637																																						.											0													26.0	29.0	28.0					14																	20898390		692	1591	2283	SO:0001583	missense	123103				CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.445G>A	14.37:g.20898390C>T	ENSP00000341549:p.Glu149Lys			Missense_Mutation	SNP	ENST00000344581.4	37	CCDS53882.1	.	.	.	.	.	.	.	.	.	.	C	9.401	1.077910	0.20227	.	.	ENSG00000185271	ENST00000344581	T	0.69806	-0.43	4.75	3.84	0.44239	BTB/Kelch-associated (2);	0.676298	0.14316	N	0.327349	T	0.53126	0.1777	L	0.31752	0.955	0.22171	N	0.99932	B	0.16802	0.019	B	0.14023	0.01	T	0.43442	-0.9391	10	0.44086	T	0.13	.	10.562	0.45150	0.0:0.9059:0.0:0.0941	.	149	A6NCF5	KLH33_HUMAN	K	149	ENSP00000341549:E149K	ENSP00000341549:E149K	E	-	1	0	KLHL33	19968230	0.009000	0.17119	0.989000	0.46669	0.962000	0.63368	1.872000	0.39549	2.443000	0.82685	0.655000	0.94253	GAG		0.637	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411038.1	XM_063481	
TAL1	6886	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	47685621	47685621	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:47685621G>T	ENST00000294339.3	-	4	1343	c.767C>A	c.(766-768)aCt>aAt	p.T256N	TAL1_ENST00000371884.2_Missense_Mutation_p.T256N|TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000371883.3_Missense_Mutation_p.T258N	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	256					angiogenesis (GO:0001525)|astrocyte fate commitment (GO:0060018)|basophil differentiation (GO:0030221)|cell fate commitment (GO:0045165)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|hemangioblast cell differentiation (GO:0060217)|hematopoietic stem cell differentiation (GO:0060218)|hemopoiesis (GO:0030097)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|platelet formation (GO:0030220)|positive regulation of cell division (GO:0051781)|positive regulation of chromatin assembly or disassembly (GO:0045799)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell proliferation (GO:0042127)|regulation of mast cell differentiation (GO:0060375)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord association neuron differentiation (GO:0021527)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|E-box binding (GO:0070888)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						GTCCTTGCCAGTCTTGGCCCG	0.637			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic																																	.		Dom	yes		1	1p32	6886	T-cell acute lymphocytic leukemia 1 (SCL)		L	0													14.0	14.0	14.0					1																	47685621		2203	4298	6501	SO:0001583	missense	6886			M29038	CCDS547.1	1p32	2013-05-21	2001-12-04		ENSG00000162367	ENSG00000162367		"""Basic helix-loop-helix proteins"""	11556	protein-coding gene	gene with protein product		187040		TCL5		2740341	Standard	NM_001287347		Approved	SCL, bHLHa17	uc009vyq.2	P17542	OTTHUMG00000007847	ENST00000294339.3:c.767C>A	1.37:g.47685621G>T	ENSP00000294339:p.Thr256Asn		D3DQ24	Missense_Mutation	SNP	ENST00000294339.3	37	CCDS547.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.441648	0.43326	.	.	ENSG00000162367	ENST00000371884;ENST00000371883;ENST00000294339	D;D;D	0.97505	-4.4;-4.41;-4.4	5.01	3.05	0.35203	Helix-loop-helix DNA-binding (1);	0.276657	0.31872	N	0.006936	D	0.88760	0.6524	N	0.08118	0	0.21652	N	0.9996	B	0.02656	0.0	B	0.01281	0.0	T	0.75172	-0.3411	10	0.18276	T	0.48	.	4.7753	0.13176	0.1479:0.4335:0.4186:0.0	.	256	P17542	TAL1_HUMAN	N	256;258;256	ENSP00000360951:T256N;ENSP00000360950:T258N;ENSP00000294339:T256N	ENSP00000294339:T256N	T	-	2	0	TAL1	47458208	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.222000	0.32515	2.607000	0.88179	0.579000	0.79373	ACT		0.637	TAL1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021640.1	NM_003189	
MAPKBP1	23005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	42113229	42113229	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:42113229A>C	ENST00000456763.2	+	24	2895	c.2699A>C	c.(2698-2700)cAt>cCt	p.H900P	MAPKBP1_ENST00000514566.1_Missense_Mutation_p.H894P|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.H894P|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.H777P|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.H733P	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	900										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCCAGGAAGCATGGGCAGGAG	0.602																																						.											0													67.0	63.0	65.0					15																	42113229		2203	4300	6503	SO:0001583	missense	23005			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.2699A>C	15.37:g.42113229A>C	ENSP00000393099:p.His900Pro		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	a	5.467	0.271189	0.10349	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.39229	1.25;1.42;1.09;1.3;1.38	4.59	3.43	0.39272	.	0.827610	0.10727	N	0.641001	T	0.26593	0.0650	N	0.19112	0.55	0.09310	N	1	B;B;P;P;B;P	0.39282	0.255;0.255;0.666;0.63;0.246;0.49	B;B;B;B;B;B	0.37346	0.06;0.136;0.092;0.187;0.081;0.247	T	0.07829	-1.0752	10	0.25106	T	0.35	-0.1822	7.9821	0.30190	0.792:0.208:0.0:0.0	.	733;777;733;894;900;894	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	P	894;777;733;900;894	ENSP00000397570:H894P;ENSP00000221214:H777P;ENSP00000260357:H733P;ENSP00000393099:H900P;ENSP00000426154:H894P	ENSP00000221214:H777P	H	+	2	0	MAPKBP1	39900521	0.171000	0.23029	0.341000	0.25589	0.061000	0.15899	1.398000	0.34554	0.758000	0.33059	0.460000	0.39030	CAT		0.602	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
ITGB4	3691	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	17	73727413	73727413	+	Silent	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:73727413G>T	ENST00000200181.3	+	10	1366	c.1179G>T	c.(1177-1179)acG>acT	p.T393T	ITGB4_ENST00000339591.3_Silent_p.T393T|ITGB4_ENST00000579662.1_Silent_p.T393T|ITGB4_ENST00000449880.2_Silent_p.T393T|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.T393T	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	393					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAGAAGACGAGGACTGGGT	0.642																																						.											0													62.0	61.0	62.0					17																	73727413		2203	4300	6503	SO:0001819	synonymous_variant	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1179G>T	17.37:g.73727413G>T			A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	CCDS11727.1																																																																																				0.642	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
VAPA	9218	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	18	9954094	9954094	+	Silent	SNP	T	T	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr18:9954094T>A	ENST00000400000.2	+	6	891	c.636T>A	c.(634-636)ccT>ccA	p.P212P	VAPA_ENST00000340541.4_Silent_p.P257P|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	212					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CGGATAAACCTGGATCAACCT	0.388																																						.											0													193.0	174.0	180.0					18																	9954094		1903	4112	6015	SO:0001819	synonymous_variant	9218				CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.636T>A	18.37:g.9954094T>A			A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Silent	SNP	ENST00000400000.2	37	CCDS11848.2																																																																																				0.388	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1		
CARD10	29775	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	22	37888769	37888769	+	Silent	SNP	C	C	T	rs377009692	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:37888769C>T	ENST00000403299.1	-	18	2733	c.2517G>A	c.(2515-2517)ccG>ccA	p.P839P	CARD10_ENST00000406271.3_Silent_p.P553P|CARD10_ENST00000251973.5_Silent_p.P839P			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	839					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					ACACCAGTAGCGGCCGCACCA	0.662													C|||	31	0.0061901	0.0	0.0	5008	,	,		14734	0.0		0.0	False		,,,				2504	0.0317					.											0								C		1,4405	2.1+/-5.4	0,1,2202	30.0	30.0	30.0		2517	-9.7	0.3	22		30	0,8598		0,0,4299	no	coding-synonymous	CARD10	NM_014550.3		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		839/1033	37888769	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	29775			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.2517G>A	22.37:g.37888769C>T			Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Silent	SNP	ENST00000403299.1	37	CCDS13948.1																																																																																				0.662	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318997.1	NM_014550	
TOP2B	7155	broad.mit.edu;hgsc.bcm.edu	37	3	25647566	25647570	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647566_25647570delGAGAA	ENST00000264331.4	-	32	4341_4345	c.4342_4346delTTCTC	c.(4342-4347)ttctcafs	p.FS1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.FS300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.FS1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.FS300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	TGAAGGAAATGAGAAGAGATTTCCA	0.298																																						.											0																																										SO:0001589	frameshift_variant	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4342_4346delTTCTC	3.37:g.25647566_25647570delGAGAA	ENSP00000264331:p.Phe1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.298	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
CHRD	8646	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	184100469	184100469	+	Missense_Mutation	SNP	G	G	A	rs375530942		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:184100469G>A	ENST00000204604.1	+	8	1135	c.889G>A	c.(889-891)Gta>Ata	p.V297I	CHRD_ENST00000545352.1_5'UTR|CHRD_ENST00000348986.3_Missense_Mutation_p.V297I|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V297I	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	297	CHRD 2. {ECO:0000255|PROSITE- ProRule:PRU00230}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACAGCAGGGCGTAGGGGGCAT	0.597																																						.											0								G	ILE/VAL	0,4406		0,0,2203	67.0	73.0	71.0		889	0.0	0.0	3		71	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHRD	NM_003741.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	297/956	184100469	1,13005	2203	4300	6503	SO:0001583	missense	8646			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.889G>A	3.37:g.184100469G>A	ENSP00000204604:p.Val297Ile		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	G	2.523	-0.310254	0.05458	0.0	1.16E-4	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.43688	0.94;0.94;0.94	5.01	0.0114	0.14087	CHRD (3);	0.610960	0.17266	N	0.180562	T	0.26268	0.0641	N	0.22421	0.69	0.09310	N	0.999998	B;B	0.11235	0.0;0.004	B;B	0.12156	0.005;0.007	T	0.17930	-1.0353	10	0.29301	T	0.29	3.3703	11.1063	0.48205	0.426:0.0:0.574:0.0	.	297;297	E7ESX1;Q9H2X0	.;CHRD_HUMAN	I	297	ENSP00000204604:V297I;ENSP00000408972:V297I;ENSP00000334036:V297I	ENSP00000204604:V297I	V	+	1	0	CHRD	185583163	0.000000	0.05858	0.005000	0.12908	0.270000	0.26580	1.059000	0.30517	-0.084000	0.12595	-1.119000	0.02030	GTA		0.597	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
PDS5A	23244	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	4	39839775	39839775	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:39839775C>G	ENST00000303538.8	-	32	4250	c.3711G>C	c.(3709-3711)aaG>aaC	p.K1237N		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTGTTCTTTTCTTTCCTCGGT	0.413																																						.											0													96.0	92.0	93.0					4																	39839775		1916	4133	6049	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3711G>C	4.37:g.39839775C>G	ENSP00000303427:p.Lys1237Asn			Missense_Mutation	SNP	ENST00000303538.8	37	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959276	0.74016	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.34	5.34	0.76211	.	0.320684	0.33309	N	0.005051	T	0.35595	0.0937	N	0.19112	0.55	0.80722	D	1	B	0.32829	0.386	B	0.31101	0.124	T	0.18272	-1.0342	8	.	.	.	-15.6347	12.8297	0.57738	0.0:0.9147:0.0:0.0852	.	1237	Q29RF7	PDS5A_HUMAN	N	1237	.	.	K	-	3	2	PDS5A	39516170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.314000	0.33597	2.502000	0.84385	0.655000	0.94253	AAG		0.413	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200	
WBSCR27	155368	hgsc.bcm.edu	37	7	73254452	73254455	+	Splice_Site	DEL	TGTG	TGTG	-	rs375025208		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	TGTG	TGTG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:73254452_73254455delTGTG	ENST00000297873.4	-	5	438		c.e5-2			NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27											NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				CGAAGGTCCCTGTGTGTGTGTGGG	0.608																																						.											0																																										SO:0001630	splice_region_variant	155368			AF534110	CCDS5561.1	7q11.23	2004-07-05			ENSG00000165171	ENSG00000165171			19068	protein-coding gene	gene with protein product		612546					Standard	NM_152559		Approved		uc003tzj.2	Q8N6F8	OTTHUMG00000130033	ENST00000297873.4:c.389-2CACA>-	7.37:g.73254460_73254463delTGTG				Splice_Site	DEL	ENST00000297873.4	37	CCDS5561.1																																																																																				0.608	WBSCR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252312.1	NM_152559	Intron
ASPM	259266	hgsc.bcm.edu	37	1	197073057	197073057	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:197073057T>C	ENST00000367409.4	-	18	5580	c.5324A>G	c.(5323-5325)tAt>tGt	p.Y1775C	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1775	IQ 7. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATTGCTTTATACATTTTCAG	0.363																																						.											0													87.0	89.0	88.0					1																	197073057		2203	4298	6501	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5324A>G	1.37:g.197073057T>C	ENSP00000356379:p.Tyr1775Cys		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	T	0.113	-1.136339	0.01742	.	.	ENSG00000066279	ENST00000367409	T	0.71698	-0.59	5.69	-1.82	0.07857	.	0.569487	0.18012	N	0.154506	T	0.52370	0.1730	L	0.28054	0.825	0.09310	N	1	B	0.24768	0.111	B	0.25884	0.064	T	0.31223	-0.9951	10	0.38643	T	0.18	.	9.3575	0.38175	0.0:0.2456:0.0912:0.6632	.	1775	Q8IZT6	ASPM_HUMAN	C	1775	ENSP00000356379:Y1775C	ENSP00000356379:Y1775C	Y	-	2	0	ASPM	195339680	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.723000	0.04952	-1.010000	0.03396	-1.463000	0.01021	TAT		0.363	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
MICALL1	85377	broad.mit.edu;hgsc.bcm.edu	37	22	38328810	38328810	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:38328810C>T	ENST00000215957.6	+	12	2275	c.2149C>T	c.(2149-2151)Cgt>Tgt	p.R717C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	717	Necessary and sufficient to associate with tubular recycling endosome membranes, mediate phosphatidic acid- binding and membrane tubulation.|RAB-binding domain (RBD); mediates the interaction with RAB13 and RAB35 and intramolecular interaction with the CH domain.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TCCAGAGGGCCGTGAGGATGA	0.637																																						.											0													73.0	61.0	65.0					22																	38328810		2203	4300	6503	SO:0001583	missense	85377			BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.2149C>T	22.37:g.38328810C>T	ENSP00000215957:p.Arg717Cys		Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.60|15.60	2.880935|2.880935	0.51801|0.51801	.|.	.|.	ENSG00000100139|ENSG00000100139	ENST00000454685|ENST00000215957;ENST00000402631;ENST00000424008	.|T;T;T	.|0.44881	.|0.91;0.91;0.91	5.17|5.17	1.7|1.7	0.24286|0.24286	.|Domain of unknown function DUF3585 (1);	.|0.580733	.|0.17003	.|N	.|0.190850	T|T	0.29158|0.29158	0.0725|0.0725	L|L	0.36672|0.36672	1.1|1.1	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.20052	.|0.041	.|B	.|0.12837	.|0.008	T|T	0.08953|0.08953	-1.0697|-1.0697	5|10	.|0.72032	.|D	.|0.01	.|.	5.5158|5.5158	0.16906|0.16906	0.1382:0.5376:0.2524:0.0718|0.1382:0.5376:0.2524:0.0718	.|.	.|717	.|Q8N3F8	.|MILK1_HUMAN	L|C	292|717;144;31	.|ENSP00000215957:R717C;ENSP00000384608:R144C;ENSP00000416766:R31C	.|ENSP00000215957:R717C	P|R	+|+	2|1	0|0	MICALL1|MICALL1	36658756|36658756	0.784000|0.784000	0.28713|0.28713	0.998000|0.998000	0.56505|0.56505	0.978000|0.978000	0.69477|0.69477	1.285000|1.285000	0.33261|0.33261	0.213000|0.213000	0.20722|0.20722	-0.282000|-0.282000	0.10007|0.10007	CCG|CGT		0.637	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
ANK2	287	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	4	114290874	114290874	+	Silent	SNP	G	G	A	rs143290935		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:114290874G>A	ENST00000357077.4	+	43	11576	c.11523G>A	c.(11521-11523)ccG>ccA	p.P3841P	ANK2_ENST00000394537.3_Silent_p.P1756P|ANK2_ENST00000506722.1_Silent_p.P1747P|ANK2_ENST00000509550.1_Silent_p.P932P|ANK2_ENST00000510275.2_Silent_p.P408P|ANK2_ENST00000264366.6_Silent_p.P3808P	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3841					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAGCTCTCCGCGGAAAACCA	0.532																																						.											0								G	,,	1,4405	2.1+/-5.4	0,1,2202	78.0	71.0	73.0		5241,11523,5268	-10.7	0.0	4	dbSNP_134	73	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	1747/1864,3841/3958,1756/1873	114290874	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11523G>A	4.37:g.114290874G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057433	0.07317	2.27E-4	0.0	ENSG00000145362	ENST00000514960	.	.	.	5.37	-10.7	0.00240	.	.	.	.	.	T	0.14960	0.0361	.	.	.	0.22446	N	0.999094	.	.	.	.	.	.	T	0.06006	-1.0851	4	.	.	.	.	2.4666	0.04554	0.2618:0.2678:0.3197:0.1507	.	.	.	.	T	758	.	.	A	+	1	0	ANK2	114510323	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.816000	0.01720	-4.027000	0.00080	-2.218000	0.00297	GCG		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
NBPF4	148545	broad.mit.edu	37	1	108769307	108769307	+	Silent	SNP	G	G	A	rs367656931	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:108769307G>A	ENST00000415641.3	-	14	2072	c.1869C>T	c.(1867-1869)agC>agT	p.S623S		NM_001143989.2	NP_001137461.1	Q96M43	NBPF4_HUMAN	neuroblastoma breakpoint family, member 4	623						cytoplasm (GO:0005737)		p.S623S(2)		endometrium(2)|lung(1)|skin(1)	4						TTACCTCTGCGCTCTCAGCAT	0.493													G|||	1100	0.219649	0.025	0.3429	5008	,	,		14496	0.3611		0.1859	False		,,,				2504	0.2843					.											2	Substitution - coding silent(2)	endometrium(2)											94.0	74.0	81.0					1																	108769307		647	1398	2045	SO:0001819	synonymous_variant	148545			AK057395	CCDS44182.1	1p13.3	2013-01-17			ENSG00000196427	ENSG00000196427		"""neuroblastoma breakpoint family"""	26550	protein-coding gene	gene with protein product		613994				16079250	Standard	NM_001143989		Approved	FLJ32833	uc009weo.2	Q96M43	OTTHUMG00000011318	ENST00000415641.3:c.1869C>T	1.37:g.108769307G>A			Q5T483	Silent	SNP	ENST00000415641.3	37	CCDS44182.1																																																																																				0.493	NBPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031255.5	NM_152488	
SPTA1	6708	broad.mit.edu	37	1	158647558	158647558	+	Silent	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:158647558G>T	ENST00000368147.4	-	7	1059	c.879C>A	c.(877-879)ggC>ggA	p.G293G		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	293					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAAGGTCTTTGCCATAGTCCT	0.468																																						.											0													115.0	110.0	112.0					1																	158647558		1975	4161	6136	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.879C>A	1.37:g.158647558G>T			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
FAM35A	54537	broad.mit.edu	37	10	88911469	88911469	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:88911469A>G	ENST00000298784.1	+	3	472	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	FAM35A_ENST00000298786.4_Missense_Mutation_p.M120V|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	120										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TAGCTCTAATATGCAAATATG	0.348																																					Ovarian(175;703 2004 25460 32514 43441)	.											0													34.0	36.0	35.0					10																	88911469		2200	4296	6496	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.358A>G	10.37:g.88911469A>G	ENSP00000298784:p.Met120Val		O95885|Q9H991	Missense_Mutation	SNP	ENST00000298784.1	37	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	a	4.716	0.133084	0.09032	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.20738	2.05;2.05;2.05	4.07	2.16	0.27623	.	1.188700	0.06644	N	0.761566	T	0.12561	0.0305	N	0.16368	0.405	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32640	-0.9899	10	0.37606	T	0.19	0.3866	3.8289	0.08865	0.2118:0.0:0.5451:0.2432	.	120	Q86V20	FA35A_HUMAN	V	120	ENSP00000298786:M120V;ENSP00000298784:M120V;ENSP00000351064:M120V	ENSP00000298784:M120V	M	+	1	0	FAM35A	88901449	0.002000	0.14202	0.001000	0.08648	0.031000	0.12232	1.098000	0.31000	0.369000	0.24510	-0.540000	0.04249	ATG		0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
CCDC82	79780	broad.mit.edu	37	11	96117896	96117896	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:96117896T>C	ENST00000278520.5	-	3	444	c.16A>G	c.(16-18)Aga>Gga	p.R6G	CCDC82_ENST00000542662.1_Missense_Mutation_p.R6G|CCDC82_ENST00000525786.1_5'Flank|CCDC82_ENST00000423339.2_Missense_Mutation_p.R6G			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	6										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTTCATGTCTTCTAACATGT	0.333																																						.											0													47.0	46.0	46.0					11																	96117896		2197	4292	6489	SO:0001583	missense	79780			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.16A>G	11.37:g.96117896T>C	ENSP00000278520:p.Arg6Gly		B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Missense_Mutation	SNP	ENST00000278520.5	37	CCDS8307.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694155	0.68386	.	.	ENSG00000149231	ENST00000278520;ENST00000542662;ENST00000423339;ENST00000538597;ENST00000530203	T;T;T;T	0.39997	1.4;1.4;1.4;1.05	5.31	4.18	0.49190	.	0.495798	0.20614	N	0.088919	T	0.57666	0.2069	M	0.68317	2.08	0.31516	N	0.663024	D;D	0.76494	0.999;0.997	D;P	0.69479	0.964;0.814	T	0.63651	-0.6589	10	0.62326	D	0.03	-16.8259	9.2464	0.37529	0.0:0.0835:0.0:0.9165	.	6;6	Q8N4S0-2;Q8N4S0	.;CCD82_HUMAN	G	6	ENSP00000278520:R6G;ENSP00000444010:R6G;ENSP00000397156:R6G;ENSP00000442723:R6G	ENSP00000278520:R6G	R	-	1	2	CCDC82	95757544	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.939000	0.48995	2.132000	0.65825	0.533000	0.62120	AGA		0.333	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395542.2	NM_024725	
ATN1	1822	broad.mit.edu;ucsc.edu;mdanderson.org	37	12	7045495	7045495	+	Silent	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7045495A>C	ENST00000356654.4	+	5	1302	c.1065A>C	c.(1063-1065)tcA>tcC	p.S355S	ATN1_ENST00000396684.2_Silent_p.S355S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	355					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGCTCCTTCACCCCACTCTC	0.597																																						.											0													130.0	134.0	133.0					12																	7045495		2203	4300	6503	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1065A>C	12.37:g.7045495A>C			Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.597	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
ALDOA	226	broad.mit.edu	37	16	30079974	30079974	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:30079974A>G	ENST00000566897.1	+	7	1484	c.332A>G	c.(331-333)aAg>aGg	p.K111R	ALDOA_ENST00000563060.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564546.1_Missense_Mutation_p.K111R|ALDOA_ENST00000412304.2_Missense_Mutation_p.K111R|ALDOA_ENST00000564595.2_Missense_Mutation_p.K165R|ALDOA_ENST00000338110.5_Missense_Mutation_p.K111R|ALDOA_ENST00000569798.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395248.1_Missense_Mutation_p.K165R|ALDOA_ENST00000569545.1_Missense_Mutation_p.K111R|ALDOA_ENST00000395240.3_Missense_Mutation_p.K111R			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	111					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGGTAGACAAGGGCGTGGTC	0.547																																						.											0													131.0	114.0	120.0					16																	30079974		2197	4300	6497	SO:0001583	missense	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.332A>G	16.37:g.30079974A>G	ENSP00000455724:p.Lys111Arg		B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	ENST00000566897.1	37	CCDS10668.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408417	0.83340	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42	5.79	5.79	0.91817	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.91653	0.7362	M	0.86343	2.81	0.80722	D	1	B	0.20780	0.048	B	0.32533	0.147	D	0.90146	0.4217	10	0.87932	D	0	.	15.105	0.72315	1.0:0.0:0.0:0.0	.	111	P04075	ALDOA_HUMAN	R	165;111;111;111	ENSP00000378669:K165R;ENSP00000336927:K111R;ENSP00000400452:K111R;ENSP00000378661:K111R	ENSP00000336927:K111R	K	+	2	0	ALDOA	29987475	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.021000	0.93673	2.208000	0.71279	0.533000	0.62120	AAG		0.547	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1	NM_000034	
AC009120.6	0	broad.mit.edu	37	16	74366496	74366496	+	RNA	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:74366496T>C	ENST00000565313.1	-	0	15				AC009120.6_ENST00000561921.1_RNA																							GAATCCTGGCTCTCCTGTGTG	0.627																																						.											0																																												0																															16.37:g.74366496T>C				RNA	SNP	ENST00000565313.1	37																																																																																					0.627	AC009120.6-003	KNOWN	basic	antisense	antisense	OTTHUMT00000434677.1		
MYO15A	51168	broad.mit.edu	37	17	18042900	18042900	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:18042900A>G	ENST00000205890.5	+	19	5524	c.5186A>G	c.(5185-5187)gAc>gGc	p.D1729G	MYO15A_ENST00000412324.1_3'UTR	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1729	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GATGTGCTGGACCTGTTCGTA	0.632																																						.											0													72.0	80.0	78.0					17																	18042900		2100	4213	6313	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5186A>G	17.37:g.18042900A>G	ENSP00000205890:p.Asp1729Gly		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.354688	0.41700	.	.	ENSG00000091536	ENST00000205890	D	0.87179	-2.22	4.6	4.6	0.57074	Myosin head, motor domain (2);	.	.	.	.	D	0.87099	0.6093	N	0.24115	0.695	0.80722	D	1	D	0.56968	0.978	P	0.62649	0.905	D	0.88388	0.3006	9	0.72032	D	0.01	.	12.0361	0.53425	1.0:0.0:0.0:0.0	.	1729	Q9UKN7	MYO15_HUMAN	G	1729	ENSP00000205890:D1729G	ENSP00000205890:D1729G	D	+	2	0	MYO15A	17983625	1.000000	0.71417	0.983000	0.44433	0.388000	0.30384	8.963000	0.93385	1.854000	0.53819	0.379000	0.24179	GAC		0.632	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
TBXA2R	6915	broad.mit.edu	37	19	3595778	3595778	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:3595778C>A	ENST00000375190.4	-	3	1333	c.940G>T	c.(940-942)Gcc>Tcc	p.A314S	TBXA2R_ENST00000587717.1_5'Flank|TBXA2R_ENST00000589966.1_Missense_Mutation_p.R184L|TBXA2R_ENST00000411851.3_Missense_Mutation_p.A314S	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	314					blood coagulation (GO:0007596)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|second-messenger-mediated signaling (GO:0019932)|thromboxane A2 signaling pathway (GO:0038193)	acrosomal vesicle (GO:0001669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|thromboxane A2 receptor activity (GO:0004961)			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CGGAGCACGGCGCGGCGGAAC	0.677																																						.											0													18.0	23.0	21.0					19																	3595778		2173	4273	6446	SO:0001583	missense	6915				CCDS42467.1, CCDS54198.1	19p13.3	2014-09-17						"""GPCR / Class A : Prostanoid receptors"""	11608	protein-coding gene	gene with protein product		188070				1825698	Standard	NM_001060		Approved		uc021umv.1	P21731		ENST00000375190.4:c.940G>T	19.37:g.3595778C>A	ENSP00000364336:p.Ala314Ser		O75228|Q6DK52|Q9UCY1|Q9UCY2	Missense_Mutation	SNP	ENST00000375190.4	37	CCDS42467.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385036	0.61956	.	.	ENSG00000006638	ENST00000411851;ENST00000375190	T;T	0.44482	1.27;0.92	5.27	3.03	0.35002	.	0.207524	0.39615	N	0.001305	T	0.26304	0.0642	N	0.19112	0.55	0.33934	D	0.642444	P	0.37781	0.608	B	0.34346	0.18	T	0.32719	-0.9896	10	0.35671	T	0.21	-19.7154	12.63	0.56651	0.311:0.689:0.0:0.0	.	314	P21731	TA2R_HUMAN	S	314	ENSP00000393333:A314S;ENSP00000364336:A314S	ENSP00000364336:A314S	A	-	1	0	TBXA2R	3546778	0.978000	0.34361	0.513000	0.27749	0.219000	0.24729	2.240000	0.43088	0.527000	0.28560	0.561000	0.74099	GCC		0.677	TBXA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453081.2		
CACNA1A	773	broad.mit.edu	37	19	13372388	13372388	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:13372388C>T	ENST00000360228.5	-	26	4125	c.4126G>A	c.(4126-4128)Gtc>Atc	p.V1376I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V1377I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1377					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	ATGTTGAAGACGTTTTTAAGT	0.522																																						.											0													57.0	56.0	57.0					19																	13372388		2078	4204	6282	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.4126G>A	19.37:g.13372388C>T	ENSP00000353362:p.Val1376Ile		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094267	0.56075	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98060	-4.69	4.17	4.17	0.49024	Ion transport (1);	0.087480	0.46145	D	0.000318	D	0.96920	0.8994	N	0.17564	0.495	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.77004	0.985;0.974;0.989	D	0.97476	1.0044	10	0.48119	T	0.1	.	15.2662	0.73663	0.0:1.0:0.0:0.0	.	1377;1380;1376	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	I	1376;1380;1377;1377	ENSP00000353362:V1376I	ENSP00000317661:V1377I	V	-	1	0	CACNA1A	13233388	1.000000	0.71417	0.995000	0.50966	0.524000	0.34500	7.757000	0.85209	1.884000	0.54569	0.561000	0.74099	GTC		0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
THAP8	199745	broad.mit.edu	37	19	36526406	36526406	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:36526406T>G	ENST00000292894.1	-	4	1305	c.761A>C	c.(760-762)gAc>gCc	p.D254A	CLIP3_ENST00000593074.1_5'Flank|AC002116.7_ENST00000586962.1_RNA|THAP8_ENST00000538849.1_Missense_Mutation_p.D109A|CLIP3_ENST00000360535.4_5'Flank	NM_152658.2	NP_689871.1	Q8NA92	THAP8_HUMAN	THAP domain containing 8	254							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGGTGCAGGGTCCTGGGCAAG	0.552																																						.											0													99.0	88.0	92.0					19																	36526406		2203	4300	6503	SO:0001583	missense	199745			AK057453	CCDS33000.1	19q13.13	2013-01-25			ENSG00000161277	ENSG00000161277		"""THAP (C2CH-type zinc finger) domain containing"""	23191	protein-coding gene	gene with protein product		612536				12575992	Standard	NM_152658		Approved	FLJ32891	uc002oda.1	Q8NA92	OTTHUMG00000048138	ENST00000292894.1:c.761A>C	19.37:g.36526406T>G	ENSP00000292894:p.Asp254Ala		Q0P5Z7|Q96M21	Missense_Mutation	SNP	ENST00000292894.1	37	CCDS33000.1	.	.	.	.	.	.	.	.	.	.	t	4.894	0.166084	0.09339	.	.	ENSG00000161277	ENST00000292894;ENST00000392182;ENST00000538849	D;T	0.87729	-2.29;1.79	2.92	-0.456	0.12190	.	5.545120	0.01495	U	0.017275	T	0.74831	0.3768	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.62695	-0.6800	10	0.34782	T	0.22	.	6.8993	0.24273	0.0:0.6457:0.0:0.3543	.	254	Q8NA92	THAP8_HUMAN	A	254;254;109	ENSP00000292894:D254A;ENSP00000445493:D109A	ENSP00000292894:D254A	D	-	2	0	THAP8	41218246	0.001000	0.12720	0.033000	0.17914	0.274000	0.26718	-0.096000	0.11059	-0.007000	0.14345	-0.141000	0.14075	GAC		0.552	THAP8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379036.1	NM_152658	
STARD7	56910	broad.mit.edu	37	2	96861118	96861118	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:96861118G>A	ENST00000337288.5	-	2	843	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	154	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.					mitochondrion (GO:0005739)	lipid binding (GO:0008289)			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						ATTGGGCGCCGCCACAGCTTA	0.498																																						.											0													111.0	86.0	94.0					2																	96861118		2203	4299	6502	SO:0001583	missense	56910			AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.460C>T	2.37:g.96861118G>A	ENSP00000338030:p.Arg154Trp		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417117	0.83449	.	.	ENSG00000084090	ENST00000337288;ENST00000443962	T;T	0.27402	1.67;1.67	6.07	4.12	0.48240	Lipid-binding START (3);START-like domain (1);	0.059719	0.64402	D	0.000001	T	0.58524	0.2128	M	0.87381	2.88	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.65919	-0.6051	10	0.87932	D	0	-23.6645	11.5932	0.50957	0.0:0.0:0.524:0.476	.	154	Q9NQZ5	STAR7_HUMAN	W	154;53	ENSP00000338030:R154W;ENSP00000409410:R53W	ENSP00000338030:R154W	R	-	1	2	STARD7	96224845	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.193000	0.58385	1.567000	0.49668	-0.169000	0.13324	CGG		0.498	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2		
TTN	7273	broad.mit.edu	37	2	179639167	179639167	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:179639167T>C	ENST00000591111.1	-	30	7048	c.6824A>G	c.(6823-6825)gAc>gGc	p.D2275G	RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2275G|TTN_ENST00000360870.5_Missense_Mutation_p.D2275G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D2229G|TTN_ENST00000589042.1_Missense_Mutation_p.D2275G|TTN_ENST00000359218.5_Missense_Mutation_p.D2229G|TTN_ENST00000460472.2_Missense_Mutation_p.D2229G|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12598	Ig-like 12.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCTATGTCCTGAAGTTC	0.353																																						.											0													61.0	61.0	61.0					2																	179639167		2202	4300	6502	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.6824A>G	2.37:g.179639167T>C	ENSP00000465570:p.Asp2275Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.35	1.912454	0.33721	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.6	5.6	0.85130	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	M	0.91768	3.24	0.29326	N	0.867009	P;P;P;P;D	0.65815	0.64;0.64;0.64;0.64;0.995	B;B;B;B;P	0.56163	0.334;0.334;0.334;0.334;0.793	T	0.74475	-0.3653	9	0.87932	D	0	.	15.7844	0.78291	0.0:0.0:0.0:1.0	.	2229;2229;2229;2275;2275	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	G	2275;2229;2229;2229;2229;2275	ENSP00000343764:D2275G;ENSP00000434586:D2229G;ENSP00000340554:D2229G;ENSP00000352154:D2229G;ENSP00000354117:D2275G	ENSP00000340554:D2229G	D	-	2	0	TTN	179347412	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.053000	0.64269	2.141000	0.66446	0.455000	0.32223	GAC		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
RAF1	5894	broad.mit.edu	37	3	12660138	12660138	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:12660138A>G	ENST00000251849.4	-	2	522	c.83T>C	c.(82-84)aTc>aCc	p.I28T	RAF1_ENST00000542177.1_5'UTR|RAF1_ENST00000442415.2_Missense_Mutation_p.I28T	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	28					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGTAGGAGAGATGCAGCTGGA	0.463			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													.		Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													129.0	116.0	120.0					3																	12660138		2203	4300	6503	SO:0001583	missense	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.83T>C	3.37:g.12660138A>G	ENSP00000251849:p.Ile28Thr		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.264954	0.59431	.	.	ENSG00000132155	ENST00000251849;ENST00000442415	T;T	0.75050	-0.9;-0.9	6.03	4.87	0.63330	.	0.155554	0.56097	N	0.000021	T	0.58438	0.2122	N	0.14661	0.345	0.80722	D	1	B	0.23937	0.094	B	0.16722	0.016	T	0.56823	-0.7915	10	0.72032	D	0.01	.	12.0181	0.53326	0.9329:0.0:0.0671:0.0	.	28	P04049	RAF1_HUMAN	T	28	ENSP00000251849:I28T;ENSP00000401888:I28T	ENSP00000251849:I28T	I	-	2	0	RAF1	12635138	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	5.751000	0.68720	1.099000	0.41499	0.533000	0.62120	ATC		0.463	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880	
TBC1D5	9779	broad.mit.edu	37	3	17415993	17415993	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:17415993C>T	ENST00000253692.7	-	12	2456	c.792G>A	c.(790-792)tgG>tgA	p.W264*	TBC1D5_ENST00000429924.2_Nonsense_Mutation_p.W216*|TBC1D5_ENST00000446818.2_Nonsense_Mutation_p.W264*|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Nonsense_Mutation_p.W264*	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	264	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAGTTGAAAACCAAGGTTCAG	0.299																																						.											0													66.0	66.0	66.0					3																	17415993		2202	4296	6498	SO:0001587	stop_gained	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.792G>A	3.37:g.17415993C>T	ENSP00000253692:p.Trp264*		A6NP25|C9JP52	Nonsense_Mutation	SNP	ENST00000253692.7	37	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	38	7.260140	0.98171	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9065	19.6391	0.95749	0.0:1.0:0.0:0.0	.	.	.	.	X	264;264;264;216	.	ENSP00000253692:W264X	W	-	3	0	TBC1D5	17390997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.344000	0.79328	2.715000	0.92844	0.655000	0.94253	TGG		0.299	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744	
ZNF35	7584	broad.mit.edu	37	3	44700856	44700856	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:44700856A>G	ENST00000396056.2	+	4	1236	c.1001A>G	c.(1000-1002)tAt>tGt	p.Y334C	ZNF35_ENST00000542250.1_Missense_Mutation_p.Y174C|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	334					cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		GAAAAATGCTATGAATGTAAT	0.423																																						.											0													52.0	55.0	54.0					3																	44700856		2203	4300	6503	SO:0001583	missense	7584			X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.1001A>G	3.37:g.44700856A>G	ENSP00000379368:p.Tyr334Cys		B2RBU6|Q53Y54|Q96D01	Missense_Mutation	SNP	ENST00000396056.2	37	CCDS2718.2	.	.	.	.	.	.	.	.	.	.	A	15.11	2.737589	0.49045	.	.	ENSG00000169981	ENST00000396056;ENST00000542250	T;T	0.61392	0.11;0.11	5.1	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42172	D	0.000754	T	0.74306	0.3699	M	0.83774	2.66	0.38106	D	0.937407	D	0.89917	1.0	D	0.91635	0.999	T	0.79090	-0.1946	10	0.72032	D	0.01	-17.2776	9.3454	0.38104	0.7633:0.0:0.0:0.2367	.	334	P13682	ZNF35_HUMAN	C	334;174	ENSP00000379368:Y334C;ENSP00000443714:Y174C	ENSP00000379368:Y334C	Y	+	2	0	ZNF35	44675860	0.057000	0.20700	1.000000	0.80357	0.994000	0.84299	0.716000	0.25836	2.279000	0.76181	0.533000	0.62120	TAT		0.423	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420	
ATP10B	23120	broad.mit.edu;mdanderson.org;bcgsc.ca	37	5	160044894	160044894	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:160044894G>A	ENST00000327245.5	-	16	3349	c.2503C>T	c.(2503-2505)Cgc>Tgc	p.R835C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	835					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATAGTGTGCGCAGGCCATCT	0.423																																						.											0													161.0	155.0	157.0					5																	160044894		1876	4106	5982	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2503C>T	5.37:g.160044894G>A	ENSP00000313600:p.Arg835Cys		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076744	0.55753	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.87491	-2.26;-2.26	5.06	2.9	0.33743	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	H	0.97783	4.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96374	0.9276	9	.	.	.	.	12.6608	0.56813	0.0:0.0:0.573:0.427	.	443;835	Q2YDW8;O94823	.;AT10B_HUMAN	C	835;443	ENSP00000313600:R835C;ENSP00000431081:R443C	.	R	-	1	0	ATP10B	159977472	0.987000	0.35691	0.359000	0.25824	0.612000	0.37316	1.931000	0.40134	1.225000	0.43566	0.650000	0.86243	CGC		0.423	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
TNXA	7146	broad.mit.edu	37	6	31977381	31977381	+	5'Flank	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:31977381T>C	ENST00000594256.1	-	0	0				CYP21A1P_ENST00000342991.6_RNA																							AGTCTGTCTGTCCATCCATGC	0.622																																						.											0																																										SO:0001631	upstream_gene_variant	7148																															6.37:g.31977381T>C	Exception_encountered			RNA	SNP	ENST00000594256.1	37																																																																																					0.622	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding			
NACAD	23148	broad.mit.edu	37	7	45123098	45123098	+	Missense_Mutation	SNP	G	G	A	rs112917247		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:45123098G>A	ENST00000490531.2	-	2	2700	c.2681C>T	c.(2680-2682)tCg>tTg	p.S894L		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	894					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TGGGGCTGACGAGAGATCTGT	0.632																																						.											0																																										SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2681C>T	7.37:g.45123098G>A	ENSP00000420477:p.Ser894Leu			Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312618	0.23908	.	.	ENSG00000136274	ENST00000490531	T	0.13778	2.56	2.31	2.31	0.28768	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	P	0.43352	0.804	B	0.22880	0.042	T	0.27536	-1.0071	9	0.48119	T	0.1	-0.4694	10.2031	0.43097	0.0:0.0:1.0:0.0	.	894	O15069	NACAD_HUMAN	L	894	ENSP00000420477:S894L	ENSP00000420477:S894L	S	-	2	0	NACAD	45089623	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-2.168000	0.01270	1.577000	0.49804	0.462000	0.41574	TCG		0.632	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
NACAD	23148	broad.mit.edu	37	7	45123137	45123137	+	Missense_Mutation	SNP	G	G	A	rs111636724		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:45123137G>A	ENST00000490531.2	-	2	2661	c.2642C>T	c.(2641-2643)gCt>gTt	p.A881V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	881					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CGGTGTCATAGCGGAGTCCTG	0.622																																						.											0													3.0	3.0	3.0					7																	45123137		584	1314	1898	SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2642C>T	7.37:g.45123137G>A	ENSP00000420477:p.Ala881Val			Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	G	0.947	-0.707651	0.03230	.	.	ENSG00000136274	ENST00000490531	T	0.12255	2.7	2.57	1.67	0.24075	.	.	.	.	.	T	0.08846	0.0219	N	0.24115	0.695	0.09310	N	1	B	0.22003	0.063	B	0.15052	0.012	T	0.32587	-0.9901	9	0.36615	T	0.2	.	8.0049	0.30319	0.1326:0.0:0.8674:0.0	.	881	O15069	NACAD_HUMAN	V	881	ENSP00000420477:A881V	ENSP00000420477:A881V	A	-	2	0	NACAD	45089662	0.025000	0.19082	0.000000	0.03702	0.001000	0.01503	1.614000	0.36911	0.393000	0.25203	0.313000	0.20887	GCT		0.622	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
ADRA1A	148	broad.mit.edu	37	8	26722373	26722373	+	Silent	SNP	A	A	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:26722373A>C	ENST00000519229.1	-	1	120	c.114T>G	c.(112-114)ctT>ctG	p.L38L	ADRA1A_ENST00000380581.2_Silent_p.L38L|ADRA1A_ENST00000380573.3_Silent_p.L38L|ADRA1A_ENST00000276393.4_Silent_p.L38L|ADRA1A_ENST00000380587.1_Silent_p.L38L|ADRA1A_ENST00000358857.5_Silent_p.L38L|ADRA1A_ENST00000354550.4_Silent_p.L38L|ADRA1A_ENST00000380586.1_Silent_p.L38L|ADRA1A_ENST00000380582.3_Silent_p.L38L|ADRA1A_ENST00000380572.3_Silent_p.L38L			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	108				MTFRDLLSVSFEGPRPDSSAGGSSAGGGGGSAGGAAPSEGP AVGGVPGGAGGGGGVVGAGSGEDNRSSAGEPGSAGAGGDVN G -> MAAALRSVMMAGYLSEWRTPTYRSTEMVQRLRMEAV QHSTS (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCACCCCGAAAAGAATGAGGC	0.592																																						.											0													192.0	214.0	207.0					8																	26722373		2203	4300	6503	SO:0001819	synonymous_variant	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.114T>G	8.37:g.26722373A>C			Q9NPY0	Silent	SNP	ENST00000519229.1	37																																																																																					0.592	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
KCNV1	27012	broad.mit.edu	37	8	110980349	110980349	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr8:110980349T>C	ENST00000524391.1	-	4	2503	c.1471A>G	c.(1471-1473)Agg>Ggg	p.R491G	KCNV1_ENST00000297404.1_Missense_Mutation_p.R491G			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	491					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCGCTGCTCCTAGTACTTGCT	0.378																																						.											0													72.0	69.0	70.0					8																	110980349		2203	4300	6503	SO:0001583	missense	27012			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1471A>G	8.37:g.110980349T>C	ENSP00000435954:p.Arg491Gly		Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.334246	0.60853	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97850	-4.57;-4.57	5.4	4.21	0.49690	.	0.196595	0.43919	D	0.000513	D	0.96442	0.8839	N	0.24115	0.695	0.50813	D	0.999896	D	0.54601	0.967	P	0.60789	0.879	D	0.94623	0.7815	10	0.31617	T	0.26	.	11.6047	0.51024	0.0:0.0:0.1493:0.8507	.	491	Q6PIU1	KCNV1_HUMAN	G	491;491;367	ENSP00000435954:R491G;ENSP00000297404:R491G	ENSP00000297404:R491G	R	-	1	2	KCNV1	111049525	0.963000	0.33076	0.982000	0.44146	0.822000	0.46500	1.880000	0.39628	0.842000	0.35045	0.460000	0.39030	AGG		0.378	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379	
ABCB7	22	broad.mit.edu	37	X	74273332	74273332	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:74273332C>T	ENST00000373394.3	-	16	2139	c.2132G>A	c.(2131-2133)cGt>cAt	p.R711H	ABCB7_ENST00000253577.3_Missense_Mutation_p.R712H|ABCB7_ENST00000339447.4_Missense_Mutation_p.R671H			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	711					cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GTTCTGCACACGGCTGCTCTG	0.408																																						.											0													106.0	86.0	92.0					X																	74273332		2203	4298	6501	SO:0001583	missense	22			AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.2132G>A	X.37:g.74273332C>T	ENSP00000362492:p.Arg711His		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37		.	.	.	.	.	.	.	.	.	.	C	12.56	1.976022	0.34848	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.88354	-1.96;-1.96;-1.96;-2.37	5.76	2.67	0.31697	.	0.194650	0.50627	N	0.000119	T	0.75932	0.3917	N	0.17800	0.525	0.39586	D	0.969512	B;B;D;B;B	0.54601	0.006;0.051;0.967;0.006;0.051	B;B;B;B;B	0.38056	0.009;0.007;0.264;0.004;0.011	T	0.73078	-0.4096	10	0.46703	T	0.11	-22.0547	6.9083	0.24321	0.0:0.5756:0.1388:0.2856	.	685;671;712;711;712	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	H	685;712;671;711;685	ENSP00000253577:R712H;ENSP00000343849:R671H;ENSP00000362492:R711H;ENSP00000436586:R685H	ENSP00000253577:R712H	R	-	2	0	ABCB7	74190057	0.315000	0.24571	0.951000	0.38953	0.991000	0.79684	0.369000	0.20416	0.508000	0.28173	0.600000	0.82982	CGT		0.408	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
MTMR1	8776	broad.mit.edu	37	X	149901024	149901024	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:149901024G>T	ENST00000370390.3	+	9	1035	c.878G>T	c.(877-879)tGg>tTg	p.W293L	MTMR1_ENST00000451863.2_Missense_Mutation_p.W293L|MTMR1_ENST00000541925.1_Missense_Mutation_p.W199L|MTMR1_ENST00000544228.1_Missense_Mutation_p.W293L|MTMR1_ENST00000445323.2_Missense_Mutation_p.W301L|MTMR1_ENST00000542156.1_Missense_Mutation_p.W293L|MTMR1_ENST00000538506.1_Missense_Mutation_p.W180L	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	293	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTGTCATGGATTCATCCG	0.408																																						.											0													67.0	55.0	59.0					X																	149901024		2203	4300	6503	SO:0001583	missense	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.878G>T	X.37:g.149901024G>T	ENSP00000359417:p.Trp293Leu		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Missense_Mutation	SNP	ENST00000370390.3	37	CCDS14695.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585470	0.86748	.	.	ENSG00000063601	ENST00000541925;ENST00000542156;ENST00000370390;ENST00000445323;ENST00000544228;ENST00000451863;ENST00000538506	D;D;D;D;D;D;D	0.93076	-3.16;-3.16;-3.16;-3.16;-3.16;-3.16;-3.16	5.93	5.07	0.68467	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	H	0.98802	4.335	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.98869	1.0765	10	0.87932	D	0	.	14.3739	0.66860	0.0726:0.0:0.9274:0.0	.	293;301;293	Q13613;F8WA39;Q8NEC6	MTMR1_HUMAN;.;.	L	199;293;293;301;293;293;180	ENSP00000441879:W199L;ENSP00000445281:W293L;ENSP00000359417:W293L;ENSP00000414178:W301L;ENSP00000440534:W293L;ENSP00000387446:W293L;ENSP00000443444:W180L	ENSP00000359417:W293L	W	+	2	0	MTMR1	149651682	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.869000	0.99810	1.261000	0.44149	0.523000	0.50628	TGG		0.408	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
C10orf91	170393	ucsc.edu	37	10	134261475	134261475	+	Silent	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:134261475A>G	ENST00000392630.3	+	3	409	c.348A>G	c.(346-348)tcA>tcG	p.S116S	C10orf91_ENST00000321248.2_Silent_p.S116S	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	116										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		ATCAAGCCTCACAGGCGGCTG	0.672																																						.											0													49.0	63.0	58.0					10																	134261475		2202	4296	6498	SO:0001819	synonymous_variant	170393			BC030794	CCDS7668.1	10q26.3	2004-03-16			ENSG00000180066	ENSG00000180066			27275	protein-coding gene	gene with protein product						12477932	Standard	NM_173541		Approved	bA432J24.4	uc001llm.3	Q5T1B1	OTTHUMG00000019289	ENST00000392630.3:c.348A>G	10.37:g.134261475A>G			Q8N0T7	Silent	SNP	ENST00000392630.3	37	CCDS7668.1																																																																																				0.672	C10orf91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051078.2	NM_173541	
C1QTNF4	114900	ucsc.edu	37	11	47612134	47612134	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:47612134A>G	ENST00000302514.3	-	2	745	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L		NM_031909.2	NP_114115.2	Q9BXJ3	C1QT4_HUMAN	C1q and tumor necrosis factor related protein 4	77	C1q 1. {ECO:0000255|PROSITE- ProRule:PRU00368}.					extracellular space (GO:0005615)				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						AAGGAGAAGAAGTAGGCGCCG	0.657																																						.											0													14.0	15.0	14.0					11																	47612134		2193	4284	6477	SO:0001583	missense	114900			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.229T>C	11.37:g.47612134A>G	ENSP00000302274:p.Phe77Leu		Q8IV25	Missense_Mutation	SNP	ENST00000302514.3	37	CCDS7942.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.611294	0.66558	.	.	ENSG00000172247	ENST00000302514;ENST00000530097	T;T	0.74842	-0.88;-0.88	4.2	4.2	0.49525	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.149149	0.46442	U	0.000298	T	0.71745	0.3376	L	0.60904	1.88	0.35460	D	0.796458	B	0.29481	0.245	B	0.31946	0.138	T	0.79555	-0.1755	10	0.72032	D	0.01	.	13.5783	0.61888	1.0:0.0:0.0:0.0	.	77	Q9BXJ3	C1QT4_HUMAN	L	77	ENSP00000302274:F77L;ENSP00000434548:F77L	ENSP00000302274:F77L	F	-	1	0	C1QTNF4	47568710	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	7.332000	0.79203	1.687000	0.51057	0.254000	0.18369	TTC		0.657	C1QTNF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391772.1	NM_031909	
CELSR2	1952	ucsc.edu	37	1	109810544	109810544	+	Silent	SNP	C	C	A	rs2281894	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:109810544C>A	ENST00000271332.3	+	17	6241	c.6180C>A	c.(6178-6180)cgC>cgA	p.R2060R		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2060					cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGCTCCTGCGCAACGCCACGC	0.677													C|||	1131	0.225839	0.0537	0.2205	5008	,	,		18633	0.4206		0.1928	False		,,,				2504	0.2955				NSCLC(158;1285 2011 34800 34852 42084)	.											0								C		313,4093	152.9+/-186.6	17,279,1907	29.0	29.0	29.0		6180	0.1	1.0	1	dbSNP_100	29	1603,6997	272.4+/-290.1	169,1265,2866	no	coding-synonymous	CELSR2	NM_001408.2		186,1544,4773	AA,AC,CC		18.6395,7.1039,14.7317		2060/2924	109810544	1916,11090	2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.6180C>A	1.37:g.109810544C>A			Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	CCDS796.1																																																																																				0.677	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408	
CTSF	8722	ucsc.edu;mdanderson.org	37	11	66335548	66335548	+	Silent	SNP	A	A	G	rs1127894	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:66335548A>G	ENST00000310325.5	-	2	328	c.219T>C	c.(217-219)ggT>ggC	p.G73G	CTSF_ENST00000533168.1_5'Flank	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	73					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCGACCCCTGACCCGCCTGGA	0.682													G|||	2918	0.582668	0.8767	0.415	5008	,	,		10960	0.5407		0.5378	False		,,,				2504	0.3937					.											0													14.0	23.0	20.0					11																	66335548		2196	4292	6488	SO:0001819	synonymous_variant	8722			AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.219T>C	11.37:g.66335548A>G			B2R964|O95240|Q9NSU4|Q9UKQ5	Silent	SNP	ENST00000310325.5	37	CCDS8144.1																																																																																				0.682	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
FAM65B	9750	ucsc.edu	37	6	24825517	24825517	+	Silent	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:24825517T>C	ENST00000259698.4	-	20	3043	c.2868A>G	c.(2866-2868)gaA>gaG	p.E956E	FAM65B_ENST00000538035.1_Silent_p.E935E	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	956					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						CCTCACTAACTTCGTTGTCCT	0.502																																						.											0													161.0	130.0	140.0					6																	24825517		692	1591	2283	SO:0001819	synonymous_variant	9750			U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.2868A>G	6.37:g.24825517T>C			A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Silent	SNP	ENST00000259698.4	37	CCDS47383.1																																																																																				0.502	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2		
GDA	9615	ucsc.edu;bcgsc.ca	37	9	74842929	74842929	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr9:74842929T>C	ENST00000358399.3	+	9	986	c.893T>C	c.(892-894)aTc>aCc	p.I298T	GDA_ENST00000376989.3_Missense_Mutation_p.I237T|GDA_ENST00000376986.1_Missense_Mutation_p.I220T|GDA_ENST00000238018.4_Missense_Mutation_p.I298T|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.I224T	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	298					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GGAGCATCCATCGCACACTGT	0.453																																						.											0													135.0	105.0	115.0					9																	74842929		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.893T>C	9.37:g.74842929T>C	ENSP00000351170:p.Ile298Thr		B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903144	0.72754	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000414671;ENST00000436438	D;D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.51	5.51	0.81932	Amidohydrolase 1 (1);	0.120479	0.64402	D	0.000015	D	0.96228	0.8770	M	0.93898	3.47	0.47621	D	0.99947	D;D;D	0.65815	0.976;0.994;0.995	D;D;D	0.70487	0.952;0.948;0.969	D	0.97056	0.9767	10	0.87932	D	0	-7.2766	13.4407	0.61112	0.0:0.0:0.0:1.0	.	220;298;298	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	T	224;298;237;220;298;164;6	ENSP00000437972:I224T;ENSP00000238018:I298T;ENSP00000366188:I237T;ENSP00000366185:I220T;ENSP00000351170:I298T;ENSP00000403897:I164T;ENSP00000400857:I6T	ENSP00000238018:I298T	I	+	2	0	GDA	74032749	0.999000	0.42202	0.668000	0.29813	0.942000	0.58702	5.576000	0.67437	2.210000	0.71456	0.533000	0.62120	ATC		0.453	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
HAS1	3036	ucsc.edu;bcgsc.ca	37	19	52222713	52222713	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:52222713C>T	ENST00000222115.1	-	2	482	c.448G>A	c.(448-450)Gag>Aag	p.E150K	HAS1_ENST00000601714.1_Missense_Mutation_p.E157K|HAS1_ENST00000594621.1_Missense_Mutation_p.E4K|HAS1_ENST00000540069.2_Missense_Mutation_p.E149K	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	150					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GCGAAGACCTCGCGGAACATG	0.721																																					NSCLC(132;636 2450 45807 47979)	.											0													12.0	10.0	11.0					19																	52222713		2086	4031	6117	SO:0001583	missense	3036			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.448G>A	19.37:g.52222713C>T	ENSP00000222115:p.Glu150Lys		Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	29.9	5.044425	0.93685	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.58797	0.31;0.31	3.83	3.83	0.44106	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.57536	1.79	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68353	0.957;0.906;0.906	T	0.71133	-0.4681	10	0.46703	T	0.11	-27.3058	13.5905	0.61957	0.0:1.0:0.0:0.0	.	149;150;149	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	K	149;150;4;4	ENSP00000445021:E149K;ENSP00000222115:E150K	ENSP00000222115:E150K	E	-	1	0	HAS1	56914525	0.999000	0.42202	1.000000	0.80357	0.953000	0.61014	4.463000	0.60128	1.832000	0.53329	0.423000	0.28283	GAG		0.721	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523	
NR0B2	8431	ucsc.edu	37	1	27240351	27240351	+	Silent	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:27240351G>A	ENST00000254227.3	-	1	106	c.81C>T	c.(79-81)tcC>tcT	p.S27S		NM_021969.2	NP_068804.1	Q15466	NR0B2_HUMAN	nuclear receptor subfamily 0, group B, member 2	27					cholesterol metabolic process (GO:0008203)|gene expression (GO:0010467)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCTTGAGGCTGGAGCTCAGAA	0.657																																						.											0													43.0	44.0	44.0					1																	27240351		2203	4300	6503	SO:0001819	synonymous_variant	8431			AF044316	CCDS291.1	1p36.1	2013-01-16			ENSG00000131910	ENSG00000131910		"""Nuclear hormone receptors"""	7961	protein-coding gene	gene with protein product		604630				9603951	Standard	NM_021969		Approved	SHP	uc001bnf.3	Q15466	OTTHUMG00000004231	ENST00000254227.3:c.81C>T	1.37:g.27240351G>A			F1D8P5|Q5QP36	Silent	SNP	ENST00000254227.3	37	CCDS291.1																																																																																				0.657	NR0B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012185.1		
PPM1K	152926	ucsc.edu;mdanderson.org;bcgsc.ca	37	4	89199470	89199470	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:89199470T>C	ENST00000608933.1	-	2	655	c.266A>G	c.(265-267)aAa>aGa	p.K89R	PPM1K_ENST00000315194.4_Missense_Mutation_p.K89R|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000295908.7_Missense_Mutation_p.K89R|PPM1K_ENST00000514204.1_Missense_Mutation_p.K89R	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K	89					protein dephosphorylation (GO:0006470)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		CAAGCTGATTTTGGGAATTGG	0.498																																						.											0													81.0	78.0	79.0					4																	89199470		2203	4300	6503	SO:0001583	missense	152926			BC037552	CCDS3629.1	4q22.1	2012-04-17	2010-03-05		ENSG00000163644	ENSG00000163644	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	25415	protein-coding gene	gene with protein product	"""PP2C-type mitochondrial phosphoprotein phosphatase"", ""protein phosphatase 2C kappa"", ""branched-chain &#945;-ketoacid dehydrogenase phosphatase"""	611065	"""protein phosphatase 1K (PP2C domain containing)"""			22291014	Standard	NM_152542		Approved	DKFZp761G058, PP2Ckappa, hPTMP, PP2Cm, BDP	uc003hrm.5	Q8N3J5	OTTHUMG00000130952	ENST00000608933.1:c.266A>G	4.37:g.89199470T>C	ENSP00000477341:p.Lys89Arg		B2RAZ1|Q05CT5|Q49AB5|Q4W5E6|Q56AN8|Q8IUZ7|Q8IXG7|Q8ND70|Q96NT4	Missense_Mutation	SNP	ENST00000608933.1	37	CCDS3629.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.386776	0.42308	.	.	ENSG00000163644	ENST00000295908;ENST00000506423;ENST00000315194	T;T;T	0.09350	2.99;2.99;2.99	4.39	4.39	0.52855	Protein phosphatase 2C-like (2);	0.165528	0.52532	D	0.000067	T	0.07369	0.0186	N	0.25890	0.77	0.47819	D	0.999524	B;B;B	0.21147	0.052;0.001;0.002	B;B;B	0.16289	0.015;0.004;0.002	T	0.24728	-1.0152	10	0.33940	T	0.23	-13.4347	7.8514	0.29457	0.0:0.0948:0.0:0.9052	.	89;89;89	Q8N3J5-2;Q8N3J5-3;Q8N3J5	.;.;PPM1K_HUMAN	R	89	ENSP00000295908:K89R;ENSP00000424155:K89R;ENSP00000324761:K89R	ENSP00000295908:K89R	K	-	2	0	PPM1K	89418494	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.083000	0.71326	1.984000	0.57885	0.260000	0.18958	AAA		0.498	PPM1K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253553.4	NM_152542	
PXDC1	221749	ucsc.edu	37	6	3751696	3751696	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:3751696T>C	ENST00000380283.4	-	1	564	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	PXDC1_ENST00000477592.2_5'UTR|RP11-420L9.5_ENST00000603791.1_RNA	NM_183373.3	NP_899229.2	Q5TGL8	PXDC1_HUMAN	PX domain containing 1	24	PX.						phosphatidylinositol binding (GO:0035091)										AGCCTGCGGATGCCGTTCACC	0.677																																						.											0													15.0	14.0	14.0					6																	3751696		2155	4226	6381	SO:0001583	missense	221749			AJ420534	CCDS4486.1	6p25.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000168994	ENSG00000168994			21361	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 145"""	C6orf145			Standard	NM_183373		Approved		uc003mvt.2	Q5TGL8	OTTHUMG00000014146	ENST00000380283.4:c.70A>G	6.37:g.3751696T>C	ENSP00000369636:p.Ile24Val		A8K0N3|Q6PGP0|Q86XB7	Missense_Mutation	SNP	ENST00000380283.4	37	CCDS4486.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885704	0.51908	.	.	ENSG00000168994	ENST00000380283	T	0.68765	-0.35	3.74	2.57	0.30868	Phox homologous domain (1);	0.113419	0.64402	N	0.000018	T	0.39627	0.1085	L	0.57536	1.79	0.49213	D	0.999761	B	0.02656	0.0	B	0.10450	0.005	T	0.25363	-1.0134	10	0.19590	T	0.45	-14.2727	8.9994	0.36072	0.0:0.0905:0.0:0.9095	.	24	Q5TGL8	CF145_HUMAN	V	24	ENSP00000369636:I24V	ENSP00000369636:I24V	I	-	1	0	C6orf145	3696695	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	2.452000	0.44961	0.464000	0.27142	0.372000	0.22366	ATC		0.677	PXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039688.1	NM_183373	
RYR1	6261	ucsc.edu;bcgsc.ca	37	19	39017691	39017691	+	Splice_Site	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:39017691A>G	ENST00000359596.3	+	72	10685	c.10685A>G	c.(10684-10686)aAg>aGg	p.K3562R	AC067969.1_ENST00000597015.1_RNA|RYR1_ENST00000360985.3_Splice_Site_p.K3562R|RYR1_ENST00000355481.4_Splice_Site_p.K3557R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3562					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CTTCAGGGAAAGGTATGCCTC	0.478																																						.											0													99.0	83.0	88.0					19																	39017691		2203	4300	6503	SO:0001630	splice_region_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10686+1A>G	19.37:g.39017691A>G			Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.475382	0.43942	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.97505	-4.4;-4.41;-4.4	4.36	4.36	0.52297	.	0.000000	0.64402	U	0.000001	D	0.98353	0.9453	M	0.86420	2.815	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.78314	0.991;0.991;0.98	D	0.99126	1.0851	10	0.72032	D	0.01	.	12.6906	0.56972	1.0:0.0:0.0:0.0	.	3562;3557;3562	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	R	3562;3557;3562;482	ENSP00000352608:K3562R;ENSP00000347667:K3557R;ENSP00000354254:K3562R	ENSP00000347667:K3557R	K	+	2	0	RYR1	43709531	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	8.857000	0.92250	1.826000	0.53198	0.383000	0.25322	AAG		0.478	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		Missense_Mutation
SERPINA10	51156	ucsc.edu;mdanderson.org;bcgsc.ca	37	14	94756470	94756470	+	Missense_Mutation	SNP	C	C	T	rs61761870	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr14:94756470C>T	ENST00000393096.1	-	2	926	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SERPINA10_ENST00000554723.1_Missense_Mutation_p.R194H|SERPINA10_ENST00000554173.1_Missense_Mutation_p.R154H|SERPINA10_ENST00000261994.4_Missense_Mutation_p.R154H	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	154					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCCAGGTTGCGGGAGAGGGT	0.517													T|||	13	0.00259585	0.0098	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0					.											0								T	HIS/ARG,HIS/ARG	38,4368	800.4+/-415.6	1,36,2166	55.0	62.0	60.0		461,461	-7.7	0.0	14	dbSNP_129	60	0,8600		0,0,4300	yes	missense,missense	SERPINA10	NM_001100607.1,NM_016186.2	29,29	1,36,6466	TT,TC,CC		0.0,0.8625,0.2922	benign,benign	154/445,154/445	94756470	38,12968	2203	4300	6503	SO:0001583	missense	51156			AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.461G>A	14.37:g.94756470C>T	ENSP00000376809:p.Arg154His		A5Z2A5|Q6UWX9|Q86U20	Missense_Mutation	SNP	ENST00000393096.1	37	CCDS9923.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	T	1.618	-0.522143	0.04171	0.008625	0.0	ENSG00000140093	ENST00000554723;ENST00000393096;ENST00000261994;ENST00000554173	D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86	4.97	-7.71	0.01254	Serpin domain (3);	2.161880	0.01822	N	0.034133	T	0.66247	0.2770	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.60424	-0.7266	10	0.30854	T	0.27	.	10.0492	0.42205	0.0:0.3809:0.1627:0.4564	rs61761870	154	Q9UK55	ZPI_HUMAN	H	194;154;154;154	ENSP00000450896:R194H;ENSP00000376809:R154H;ENSP00000261994:R154H;ENSP00000450971:R154H	ENSP00000261994:R154H	R	-	2	0	SERPINA10	93826223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.234000	0.00546	-2.153000	0.00793	-3.554000	0.00030	CGC		0.517	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186	
SLC38A10	124565	ucsc.edu	37	17	79219503	79219503	+	Silent	SNP	G	G	A	rs10569617|rs3833102	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:79219503G>A	ENST00000374759.3	-	16	3596	c.3213C>T	c.(3211-3213)atC>atT	p.I1071I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235). {ECO:0000305}.	amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TAAGGCCAATGATGACCCCAT	0.687																																						.											0													30.0	24.0	26.0					17																	79219503		2038	3935	5973	SO:0001819	synonymous_variant	124565			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3213C>T	17.37:g.79219503G>A			Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	CCDS42397.1																																																																																				0.687	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570	
TICRR	90381	ucsc.edu	37	15	90119273	90119273	+	Silent	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:90119273C>T	ENST00000268138.7	+	1	561	c.456C>T	c.(454-456)aaC>aaT	p.N152N	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Silent_p.N152N			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	152				N -> Y (in Ref. 3; DR731357). {ECO:0000305}.	cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCTTGGTGAACGCCGTCTTCC	0.716																																						.											0													13.0	18.0	16.0					15																	90119273		2024	4165	6189	SO:0001819	synonymous_variant	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.456C>T	15.37:g.90119273C>T			B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Silent	SNP	ENST00000268138.7	37	CCDS10352.2																																																																																				0.716	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
TPH1	7166	ucsc.edu	37	11	18044471	18044471	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr11:18044471A>G	ENST00000250018.2	-	9	1596	c.1034T>C	c.(1033-1035)cTt>cCt	p.L345P	TPH1_ENST00000341556.2_Missense_Mutation_p.L345P|RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000525406.1_5'UTR	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	345					aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ATGTCCAGAAAGTGCATGCTA	0.353																																						.											0													90.0	85.0	87.0					11																	18044471		2200	4293	6493	SO:0001583	missense	7166			X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.1034T>C	11.37:g.18044471A>G	ENSP00000250018:p.Leu345Pro		D3DQX6|O95188|O95189|Q16736|Q3KPG8	Missense_Mutation	SNP	ENST00000250018.2	37	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556082	0.86231	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	D;D	0.99762	-6.67;-6.67	5.78	5.78	0.91487	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.96961	0.9701	10	0.87932	D	0	-26.648	16.1145	0.81295	1.0:0.0:0.0:0.0	.	345	P17752	TPH1_HUMAN	P	345	ENSP00000250018:L345P;ENSP00000343550:L345P	ENSP00000250018:L345P	L	-	2	0	TPH1	18001047	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.339000	0.96797	2.205000	0.71048	0.454000	0.30748	CTT		0.353	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	
USH2A	7399	ucsc.edu	37	1	215916578	215916578	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:215916578A>G	ENST00000307340.3	-	59	11875	c.11489T>C	c.(11488-11490)cTt>cCt	p.L3830P	USH2A_ENST00000366943.2_Missense_Mutation_p.L3830P	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3830	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCCAGAAGGGTGGATTG	0.433										HNSCC(13;0.011)																												.											0													142.0	136.0	138.0					1																	215916578		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11489T>C	1.37:g.215916578A>G	ENSP00000305941:p.Leu3830Pro		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.652460	0.29336	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57595	0.39;0.39	4.94	2.47	0.30058	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.870968	0.09479	N	0.796557	T	0.60457	0.2270	L	0.47716	1.5	0.18873	N	0.999988	D	0.61080	0.989	P	0.61070	0.883	T	0.46331	-0.9199	10	0.59425	D	0.04	.	7.8623	0.29517	0.7205:0.1387:0.0:0.1408	.	3830	O75445	USH2A_HUMAN	P	3830	ENSP00000305941:L3830P;ENSP00000355910:L3830P	ENSP00000305941:L3830P	L	-	2	0	USH2A	213983201	0.074000	0.21230	0.028000	0.17463	0.101000	0.19017	3.361000	0.52306	0.383000	0.24910	0.533000	0.62120	CTT		0.433	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
ZGPAT	84619	ucsc.edu	37	20	62340424	62340424	+	Silent	SNP	T	T	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr20:62340424T>G	ENST00000328969.5	+	2	619	c.492T>G	c.(490-492)ggT>ggG	p.G164G	ARFRP1_ENST00000324228.2_5'Flank|ZGPAT_ENST00000355969.6_Silent_p.G164G|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.G164G|ZGPAT_ENST00000448100.2_Silent_p.G164G|ARFRP1_ENST00000440854.1_5'Flank|ZGPAT_ENST00000357119.4_Silent_p.G164G|ARFRP1_ENST00000607873.1_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|ARFRP1_ENST00000359715.5_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.V70G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	164					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCTCGGCGGGTGTCCGTGTGC	0.592																																						.											0													95.0	93.0	94.0					20																	62340424		2203	4300	6503	SO:0001819	synonymous_variant	84619			AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.492T>G	20.37:g.62340424T>G			E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	CCDS13534.1																																																																																				0.592	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
CACNA1C	775	mdanderson.org	37	12	2794937	2794937	+	Missense_Mutation	SNP	C	C	T	rs201777030		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:2794937C>T	ENST00000347598.4	+	46	5753	c.5753C>T	c.(5752-5754)aCg>aTg	p.T1918M	CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1898M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1911M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1876M|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1895M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1878M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1905M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1941M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1889M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1890M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1870M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1887M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1953					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.T1911M(1)|p.T1983M(1)|p.T1405M(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCAACTGACGCTCCCAGAG	0.582																																						.											3	Substitution - Missense(3)	skin(3)											49.0	49.0	49.0					12																	2794937		2012	4159	6171	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5753C>T	12.37:g.2794937C>T	ENSP00000266376:p.Thr1918Met		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802724	0.50315	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55;0.55	4.26	4.26	0.50523	.	29.029300	0.00550	N	0.000258	T	0.70133	0.3189	L	0.56769	1.78	0.34775	D	0.734153	P;P;D;P;P;D;D;P;P;D;P;D;P;P;D;P;P;B;P;P;D;P;P;D;D	0.65815	0.863;0.922;0.995;0.664;0.934;0.988;0.992;0.869;0.638;0.966;0.922;0.989;0.927;0.783;0.992;0.677;0.927;0.317;0.922;0.485;0.985;0.869;0.869;0.981;0.995	B;P;P;B;P;P;P;P;B;P;P;P;P;P;P;B;P;B;P;B;P;P;P;P;P	0.56916	0.238;0.595;0.809;0.146;0.756;0.647;0.795;0.595;0.282;0.553;0.595;0.736;0.521;0.595;0.65;0.391;0.521;0.299;0.595;0.229;0.542;0.595;0.595;0.46;0.809	T	0.60281	-0.7294	10	0.38643	T	0.18	.	16.9179	0.86156	0.0:1.0:0.0:0.0	.	561;1911;1867;1953;1905;1889;1870;1887;1898;1870;1890;1870;1901;1918;1870;1905;1941;1878;1876;1878;1859;1889;1889;1870;1870	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1895;1870;1870;1898;1870;1889;1889;1878;1870;1918;1890;1870;1911;1887;1905;1876;1889;1870;1941;1905;1941;1878;1771	ENSP00000336982:T1895M;ENSP00000382563:T1870M;ENSP00000382552:T1870M;ENSP00000382547:T1898M;ENSP00000382506:T1870M;ENSP00000382530:T1889M;ENSP00000382546:T1889M;ENSP00000382500:T1878M;ENSP00000382549:T1870M;ENSP00000266376:T1918M;ENSP00000382515:T1890M;ENSP00000382510:T1870M;ENSP00000341092:T1911M;ENSP00000382537:T1887M;ENSP00000329877:T1905M;ENSP00000382557:T1876M;ENSP00000385724:T1889M;ENSP00000382512:T1870M;ENSP00000382542:T1941M;ENSP00000382526:T1905M;ENSP00000385896:T1941M;ENSP00000382504:T1878M	ENSP00000323129:T1771M	T	+	2	0	CACNA1C	2665198	1.000000	0.71417	0.106000	0.21319	0.488000	0.33401	5.733000	0.68571	2.202000	0.70862	0.449000	0.29647	ACG		0.582	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
CDRT15L2	256223	mdanderson.org	37	17	20483065	20483065	+	Silent	SNP	C	C	G	rs73981761		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr17:20483065C>G	ENST00000399044.1	+	1	29	c.9C>G	c.(7-9)tcC>tcG	p.S3S	RP11-434D2.12_ENST00000580931.1_lincRNA	NM_001190790.1	NP_001177719.1	A8MXV6	CD15L_HUMAN	CMT1A duplicated region transcript 15-like 2	3						integral component of membrane (GO:0016021)				central_nervous_system(1)	1						AGATGTTCTCCTGTTGCTTCC	0.537																																						.											0																																										SO:0001819	synonymous_variant	256223				CCDS54096.1	17p11.2	2008-10-30			ENSG00000214819	ENSG00000214819			34075	protein-coding gene	gene with protein product							Standard	NM_001190790		Approved		uc021tsn.1	A8MXV6	OTTHUMG00000059557	ENST00000399044.1:c.9C>G	17.37:g.20483065C>G				Silent	SNP	ENST00000399044.1	37	CCDS54096.1																																																																																				0.537	CDRT15L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132432.3	XM_170840	
CRIPAK	285464	mdanderson.org	37	4	1388524	1388524	+	Silent	SNP	A	A	G	rs55944930	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr4:1388524A>G	ENST00000324803.4	+	1	3185	c.225A>G	c.(223-225)ccA>ccG	p.P75P		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	75					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGGAGTGCCCACCTGCTCATG	0.642																																						.											0													287.0	247.0	260.0					4																	1388524		2203	4300	6503	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.225A>G	4.37:g.1388524A>G			Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1																																																																																				0.642	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CYP2D6	1565	mdanderson.org	37	22	42523505	42523505	+	Missense_Mutation	SNP	C	C	T	rs150552908		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:42523505C>T	ENST00000360608.5	-	7	1231	c.1117G>A	c.(1117-1119)Ggt>Agt	p.G373S	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.G322S|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.G373S	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	373			G -> S (in dbSNP:rs2856959).		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TGGGTCACACCCAGGGGGACG	0.627																																						.											0													82.0	71.0	75.0					22																	42523505		2202	4300	6502	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1117G>A	22.37:g.42523505C>T	ENSP00000353820:p.Gly373Ser		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	37	0.01694139194139194	13	0.026422764227642278	1	0.0027624309392265192	6	0.01048951048951049	17	0.022427440633245383	C	11.82	1.753313	0.31046	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.67865	-0.29;-0.29;-0.29	4.93	2.84	0.33178	.	0.309535	0.32204	N	0.006427	T	0.28599	0.0708	L	0.28556	0.865	0.09310	N	1	B;B;B	0.14012	0.009;0.002;0.009	B;B;B	0.28784	0.094;0.032;0.094	T	0.33394	-0.9870	10	0.42905	T	0.14	.	8.1034	0.30870	0.0:0.7482:0.0:0.2518	rs2856959	373;322;373	C1ID54;Q6NXU8;Q6NWU0	.;.;.	S	373;373;319;322;322	ENSP00000353820:G373S;ENSP00000374620:G373S;ENSP00000351927:G322S	ENSP00000351927:G322S	G	-	1	0	CYP2D6	40853449	0.000000	0.05858	0.001000	0.08648	0.965000	0.64279	-0.231000	0.09069	0.495000	0.27882	0.555000	0.69702	GGT		0.627	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
CYP2D6	1565	mdanderson.org	37	22	42523514	42523514	+	Missense_Mutation	SNP	C	C	T	rs61745683	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:42523514C>T	ENST00000360608.5	-	7	1222	c.1108G>A	c.(1108-1110)Gtc>Atc	p.V370I	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Missense_Mutation_p.V319I|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.V370I	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	370					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCCAGGGGGACGATGTCCCCA	0.617																																						.											0													91.0	76.0	81.0					22																	42523514		2201	4300	6501	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1108G>A	22.37:g.42523514C>T	ENSP00000353820:p.Val370Ile		Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	C	6.769	0.510813	0.12883	.	.	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.71461	-0.57;-0.57;-0.57	4.93	-6.63	0.01807	.	1.172500	0.06084	N	0.662437	T	0.50837	0.1639	L	0.38838	1.175	0.09310	N	1	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.15484	0.002;0.013;0.002	T	0.31943	-0.9925	10	0.14252	T	0.57	.	4.9748	0.14135	0.0962:0.2506:0.0994:0.5539	.	370;319;370	C1ID54;Q6NXU8;Q6NWU0	.;.;.	I	370;370;316;319;319	ENSP00000353820:V370I;ENSP00000374620:V370I;ENSP00000351927:V319I	ENSP00000351927:V319I	V	-	1	0	CYP2D6	40853458	0.000000	0.05858	0.014000	0.15608	0.946000	0.59487	-1.950000	0.01530	-0.880000	0.03997	-0.266000	0.10368	GTC		0.617	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
CYP2D6	1565	mdanderson.org	37	22	42523539	42523539	+	Silent	SNP	A	A	G	rs28371726	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr22:42523539A>G	ENST00000360608.5	-	7	1197	c.1083T>C	c.(1081-1083)caT>caC	p.H361H	NDUFA6-AS1_ENST00000439129.1_RNA|NDUFA6-AS1_ENST00000451451.1_RNA|NDUFA6-AS1_ENST00000595777.1_RNA|NDUFA6-AS1_ENST00000434834.1_RNA|NDUFA6-AS1_ENST00000600968.1_RNA|NDUFA6-AS1_ENST00000610250.1_RNA|NDUFA6-AS1_ENST00000536447.2_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|CYP2D6_ENST00000359033.4_Silent_p.H310H|NDUFA6-AS1_ENST00000417327.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.H361H	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	361					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCACCTCATGAATCACGG	0.602																																						.											0													119.0	93.0	102.0					22																	42523539		2202	4299	6501	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.1083T>C	22.37:g.42523539A>G			Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	ENST00000360608.5	37	CCDS46721.1																																																																																				0.602	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
DUPD1	338599	mdanderson.org;bcgsc.ca	37	10	76803567	76803567	+	Missense_Mutation	SNP	T	T	G	rs16931938	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr10:76803567T>G	ENST00000338487.5	-	2	408	c.409A>C	c.(409-411)Agc>Cgc	p.S137R		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	137	Tyrosine-protein phosphatase.		S -> R (in dbSNP:rs16931938).		protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TGGTCGTCGCTTAGCGCTCTG	0.706													G|||	1507	0.300919	0.6543	0.2061	5008	,	,		6796	0.2738		0.0457	False		,,,				2504	0.181					.											0								G	ARG/SER	2448,1958	550.5+/-378.0	702,1044,457	67.0	60.0	62.0		409	-1.6	0.0	10	dbSNP_123	62	425,8175	797.7+/-407.4	11,403,3886	yes	missense	DUPD1	NM_001003892.1	110	713,1447,4343	GG,GT,TT		4.9419,44.4394,22.0898	benign	137/221	76803567	2873,10133	2203	4300	6503	SO:0001583	missense	338599				CCDS31223.1	10q22.3	2011-06-09			ENSG00000188716	ENSG00000188716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	23481	protein-coding gene	gene with protein product							Standard	NM_001003892		Approved	DUSP27	uc001jwq.1	Q68J44	OTTHUMG00000018512	ENST00000338487.5:c.409A>C	10.37:g.76803567T>G	ENSP00000340609:p.Ser137Arg		B2RP93	Missense_Mutation	SNP	ENST00000338487.5	37	CCDS31223.1	608	0.2783882783882784	335	0.6808943089430894	71	0.19613259668508287	171	0.29895104895104896	31	0.040897097625329816	G	10.15	1.270877	0.23221	0.555606	0.049419	ENSG00000188716	ENST00000338487	T	0.61392	0.11	4.63	-1.65	0.08291	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.810313	0.11263	N	0.582345	T	0.00012	0.0000	L	0.48260	1.515	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.44967	-0.9293	9	0.23891	T	0.37	-0.524	13.1202	0.59321	0.0:0.0959:0.2121:0.692	rs16931938;rs52825920;rs16931938	137	Q68J44	DUPD1_HUMAN	R	137	ENSP00000340609:S137R	ENSP00000340609:S137R	S	-	1	0	DUPD1	76473573	0.003000	0.15002	0.000000	0.03702	0.002000	0.02628	0.125000	0.15749	-0.950000	0.03659	-0.847000	0.03039	AGC		0.706	DUPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048777.2	XM_291741	
FAM131C	348487	mdanderson.org	37	1	16384986	16384986	+	Silent	SNP	G	G	T	rs28496958	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:16384986G>T	ENST00000375662.4	-	7	972	c.789C>A	c.(787-789)ctC>ctA	p.L263L	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	263	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCATGGAGGGGAGGGAGCCCG	0.711																																						.											0													2.0	2.0	2.0					1																	16384986		1272	2832	4104	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.789C>A	1.37:g.16384986G>T			Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.711	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	
FRG1B	284802	mdanderson.org	37	20	29624055	29624055	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr20:29624055C>A	ENST00000278882.3	+	4	459	c.79C>A	c.(79-81)Cca>Aca	p.P27T	FRG1B_ENST00000439954.2_Missense_Mutation_p.P32T|FRG1B_ENST00000358464.4_Missense_Mutation_p.P27T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	27										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CCCTAGTCCTCCAGAGCAGTT	0.279																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.79C>A	20.37:g.29624055C>A	ENSP00000278882:p.Pro27Thr		C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	c	8.757	0.922733	0.18056	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42513	0.97	1.91	1.91	0.25777	.	0.058688	0.64402	D	0.000001	T	0.36552	0.0971	.	.	.	0.45490	D	0.998458	.	.	.	.	.	.	T	0.06698	-1.0812	7	0.18276	T	0.48	.	9.8627	0.41125	0.0:1.0:0.0:0.0	.	.	.	.	T	27;32;27	ENSP00000408863:P32T	ENSP00000278882:P27T	P	+	1	0	FRG1B	28237716	1.000000	0.71417	1.000000	0.80357	0.356000	0.29392	6.195000	0.72088	1.383000	0.46405	0.184000	0.17185	CCA		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
RP3-470B24.5	0	mdanderson.org	37	6	168376869	168376869	+	lincRNA	SNP	C	C	T	rs71305249|rs201374833	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr6:168376869C>T	ENST00000538528.1	-	0	750																											GGGGTCATTCCCCCTGCAGTG	0.602													C|||	1272	0.253994	0.1241	0.2536	5008	,	,		19408	0.4167		0.2445	False		,,,				2504	0.272					.											0													30.0	27.0	28.0					6																	168376869		692	1591	2283			0																															6.37:g.168376869C>T				Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.602	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA			
MUC4	4585	mdanderson.org	37	3	195507539	195507539	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:195507539G>A	ENST00000463781.3	-	2	11371	c.10912C>T	c.(10912-10914)Ctt>Ttt	p.L3638F	MUC4_ENST00000475231.1_Missense_Mutation_p.L3638F|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)			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)		ACTGAGGAAAGGCTGGTGACA	0.582																																						.											0													15.0	13.0	14.0					3																	195507539		617	1515	2132	SO:0001583	missense	4585			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.10912C>T	3.37:g.195507539G>A	ENSP00000417498:p.Leu3638Phe		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	.	.	.	.	.	.	.	.	.	.	N	9.111	1.006664	0.19199	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36520	1.25;1.49	0.743	-1.49	0.08718	.	.	.	.	.	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	B	0.26876	0.162	B	0.08055	0.003	T	0.15235	-1.0444	8	.	.	.	.	2.9195	0.05764	0.0:0.3015:0.3959:0.3025	.	3510	E7ESK3	.	F	3638	ENSP00000417498:L3638F;ENSP00000420243:L3638F	.	L	-	1	0	MUC4	196992318	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-3.553000	0.00433	-1.969000	0.01005	-1.982000	0.00454	CTT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195509497	195509498	+	Missense_Mutation	DNP	GC	GC	AT	rs201925754		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:195509497_195509498GC>AT	ENST00000463781.3	-	2	9412_9413	c.8953_8954GC>AT	c.(8953-8955)GCa>ATa	p.A2985I	MUC4_ENST00000475231.1_Missense_Mutation_p.A2985I|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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.A2985T(2)|p.A2985V(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)		ACCTGTGGATGCTGAGGAAGTG	0.574																																						.											3	Substitution - Missense(3)	endometrium(3)																																								SO:0001583	missense	4585			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.8953_8954delinsAT	3.37:g.195509497_195509498delinsAT	ENSP00000417498:p.Ala2985Ile		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	DNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.574	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195512549	195512549	+	Missense_Mutation	SNP	A	A	G	rs201832232		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:195512549A>G	ENST00000463781.3	-	2	6361	c.5902T>C	c.(5902-5904)Tct>Cct	p.S1968P	MUC4_ENST00000475231.1_Missense_Mutation_p.S1968P|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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)			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)		ACAGGAAGAGAGGTGGCGTGA	0.607																																						.											0													51.0	43.0	45.0					3																	195512549		691	1591	2282	SO:0001583	missense	4585			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.5902T>C	3.37:g.195512549A>G	ENSP00000417498:p.Ser1968Pro		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	.	.	.	.	.	.	.	.	.	.	a	4.784	0.145707	0.09134	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.34275	1.37;1.38	.	.	.	.	.	.	.	.	T	0.10423	0.0255	N	0.02539	-0.55	0.09310	N	1	P	0.42993	0.797	B	0.36989	0.238	T	0.20009	-1.0288	7	.	.	.	.	4.6449	0.12566	0.4507:0.0:0.5493:0.0	.	1968	E7ESK3	.	P	1968	ENSP00000417498:S1968P;ENSP00000420243:S1968P	.	S	-	1	0	MUC4	196996944	0.003000	0.15002	0.002000	0.10522	0.012000	0.07955	-0.002000	0.12924	-1.821000	0.01213	-2.094000	0.00368	TCT		0.607	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195512579	195512579	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:195512579C>T	ENST00000463781.3	-	2	6331	c.5872G>A	c.(5872-5874)Gct>Act	p.A1958T	MUC4_ENST00000475231.1_Missense_Mutation_p.A1958T|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					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.P1952_T1967delPLPVTDASSVPTGHAT(4)		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)		ACTGAGGAAGCGTCGGTGACA	0.602																																						.											4	Deletion - In frame(4)	stomach(4)																																								SO:0001583	missense	4585			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.5872G>A	3.37:g.195512579C>T	ENSP00000417498:p.Ala1958Thr		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	.	.	.	.	.	.	.	.	.	.	T	10.83	1.460561	0.26248	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.5	1.12	1.12	0.20585	.	.	.	.	.	T	0.12390	0.0301	N	0.08118	0	0.09310	N	1	B	0.25007	0.116	B	0.08055	0.003	T	0.32455	-0.9906	8	.	.	.	.	5.0105	0.14310	0.0:0.4354:0.0:0.5646	.	1958	E7ESK3	.	T	1958	ENSP00000417498:A1958T;ENSP00000420243:A1958T	.	A	-	1	0	MUC4	196996974	0.269000	0.24143	0.025000	0.17156	0.026000	0.11368	-0.361000	0.07612	-1.879000	0.01126	-2.088000	0.00374	GCT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
OR4N3P	390539	mdanderson.org	37	15	22414053	22414053	+	IGR	SNP	C	C	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:22414053C>A								RP11-69H14.6 (30245 upstream) : RP11-2F9.4 (19836 downstream)																							GGTGGAGCTTCTGATGGTCTT	0.507																																						.											0																																										SO:0001628	intergenic_variant	390539																															15.37:g.22414053C>A				RNA	SNP		37																																																																																				0	0.507								
PABPC3	5042	mdanderson.org	37	13	25670873	25670873	+	Silent	SNP	A	A	G	rs77142265	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr13:25670873A>G	ENST00000281589.3	+	1	574	c.537A>G	c.(535-537)cgA>cgG	p.R179R		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	179					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTAAAGAACGAGAAGCTGAAC	0.408													a|||	274	0.0547125	0.0779	0.0591	5008	,	,		22193	0.0347		0.0318	False		,,,				2504	0.0644					.											0													103.0	96.0	98.0					13																	25670873		2203	4300	6503	SO:0001819	synonymous_variant	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.537A>G	13.37:g.25670873A>G			Q8NHV0|Q9H086	Silent	SNP	ENST00000281589.3	37	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PCDHA9	9752	mdanderson.org	37	5	140228473	140228473	+	Silent	SNP	A	A	G	rs364063		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr5:140228473A>G	ENST00000532602.1	+	1	1426	c.393A>G	c.(391-393)ccA>ccG	p.P131P	PCDHA9_ENST00000378122.3_Silent_p.P131P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	131	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCTCCAGTGTTCCCAG	0.572																																					Melanoma(55;1800 1972 14909)	.											0													124.0	109.0	114.0					5																	140228473		2197	4265	6462	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.393A>G	5.37:g.140228473A>G			O15053|Q2M3S5	Silent	SNP	ENST00000532602.1	37	CCDS54920.1																																																																																				0.572	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
POTEE	445582	mdanderson.org	37	2	132021781	132021781	+	Missense_Mutation	SNP	A	A	T	rs553548999	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:132021781A>T	ENST00000356920.5	+	15	2847	c.2753A>T	c.(2752-2754)tAt>tTt	p.Y918F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	918	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											AAGCTGTGCTATGTTGCCCTG	0.592													.|||	2	0.000399361	0.0015	0.0	5008	,	,		40828	0.0		0.0	False		,,,				2504	0.0					.											0													88.0	96.0	94.0					2																	132021781		2202	4294	6496	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2753A>T	2.37:g.132021781A>T	ENSP00000439189:p.Tyr918Phe		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.13	2.742490	0.49151	.	.	ENSG00000188219	ENST00000356920	T	0.08984	3.03	.	.	.	.	.	.	.	.	T	0.09335	0.0230	M	0.75264	2.295	0.80722	D	1	B	0.33755	0.424	B	0.29524	0.103	T	0.09862	-1.0655	8	0.72032	D	0.01	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	918	Q6S8J3	POTEE_HUMAN	F	918	ENSP00000439189:Y918F	ENSP00000439189:Y918F	Y	+	2	0	AC131180.1	131738251	1.000000	0.71417	0.464000	0.27143	0.467000	0.32768	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	TAT		0.592	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
PRAMEF2	65122	mdanderson.org	37	1	12921594	12921594	+	Nonsense_Mutation	SNP	C	C	G	rs201429745	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr1:12921594C>G	ENST00000240189.2	+	4	1472	c.1385C>G	c.(1384-1386)tCa>tGa	p.S462*		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	462					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGTGGCTCATCACCGTCT	0.557																																						.											0													28.0	34.0	32.0					1																	12921594		2001	4117	6118	SO:0001587	stop_gained	65122				CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1385C>G	1.37:g.12921594C>G	ENSP00000240189:p.Ser462*			Nonsense_Mutation	SNP	ENST00000240189.2	37	CCDS149.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271531	0.40194	.	.	ENSG00000120952	ENST00000240189	.	.	.	0.741	0.741	0.18336	.	18.936500	0.00166	N	0.000000	.	.	.	.	.	.	0.20196	N	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.7974	0.13279	0.0:1.0:0.0:0.0	.	.	.	.	X	462	.	ENSP00000240189:S462X	S	+	2	0	PRAMEF2	12844181	0.000000	0.05858	0.057000	0.19452	0.044000	0.14063	-2.662000	0.00850	0.683000	0.31428	0.173000	0.16961	TCA		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014	
PRSS1	5644	mdanderson.org	37	7	142459667	142459667	+	Silent	SNP	G	G	A	rs142476093		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:142459667G>A	ENST00000311737.7	+	3	249	c.243G>A	c.(241-243)ctG>ctA	p.L81L	PRSS1_ENST00000486171.1_Silent_p.L95L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	81	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCGAAGTCCTGGAGGGGAATG	0.542																																						.											0													213.0	200.0	204.0					7																	142459667		2203	4300	6503	SO:0001819	synonymous_variant	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.243G>A	7.37:g.142459667G>A			A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Silent	SNP	ENST00000311737.7	37	CCDS5872.1																																																																																				0.542	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
USP27X	389856	mdanderson.org	37	X	49645527	49645527	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:49645527G>C	ENST00000508866.2	+	1	1058	c.617G>C	c.(616-618)gGc>gCc	p.G206A	USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked	206	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						TTCACAGGTGGCCTGCAGTCT	0.537																																						.											0													109.0	86.0	93.0					X																	49645527		692	1591	2283	SO:0001583	missense	389856			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8		ENST00000508866.2:c.617G>C	X.37:g.49645527G>C	ENSP00000475071:p.Gly206Ala			Missense_Mutation	SNP	ENST00000508866.2	37																																																																																					0.537	USP27X-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060837.3	XM_372213	
TCEAL4	79921	mdanderson.org	37	X	102842229	102842229	+	Missense_Mutation	SNP	T	T	C	rs201993261		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:102842229T>C	ENST00000472745.1	+	3	1178	c.626T>C	c.(625-627)aTt>aCt	p.I209T	TCEAL4_ENST00000472484.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000494801.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000415568.2_Missense_Mutation_p.I209T|TCEAL4_ENST00000468024.1_Missense_Mutation_p.I209T|TCEAL4_ENST00000372629.4_Missense_Mutation_p.I352T			Q96EI5	TCAL4_HUMAN	transcription elongation factor A (SII)-like 4	209					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I352T(1)		endometrium(1)|kidney(1)|large_intestine(2)|skin(2)	6						CGAAGGGACATTGAAGACATT	0.498																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	79921			AF314542	CCDS14510.2, CCDS76004.1	Xq22.2	2014-03-21			ENSG00000133142	ENSG00000133142			26121	protein-coding gene	gene with protein product						14702039, 16221301	Standard	XM_005262192		Approved	FLJ21174, WEX7	uc004ekn.3	Q96EI5	OTTHUMG00000022103	ENST00000472745.1:c.626T>C	X.37:g.102842229T>C	ENSP00000424314:p.Ile209Thr		Q8WY12|Q9H2H1|Q9H775	Missense_Mutation	SNP	ENST00000472745.1	37	CCDS14510.2	.	.	.	.	.	.	.	.	.	.	T	9.922	1.212528	0.22289	.	.	ENSG00000133142	ENST00000372629;ENST00000468024;ENST00000472484;ENST00000415568;ENST00000414064;ENST00000472745;ENST00000494801	T;T;T;T;T;T	0.26660	1.72;1.82;1.82;1.82;1.82;1.82	3.73	-0.255	0.12988	.	1.237680	0.05849	N	0.620821	T	0.11410	0.0278	N	0.08118	0	0.21499	N	0.999669	B	0.02656	0.0	B	0.04013	0.001	T	0.28364	-1.0046	10	0.45353	T	0.12	.	0.6663	0.00851	0.2069:0.1222:0.2101:0.4607	.	209	Q96EI5	TCAL4_HUMAN	T	352;209;209;209;180;209;209	ENSP00000361712:I352T;ENSP00000421857:I209T;ENSP00000421156:I209T;ENSP00000415564:I209T;ENSP00000424314:I209T;ENSP00000427494:I209T	ENSP00000361712:I352T	I	+	2	0	TCEAL4	102728885	0.901000	0.30685	0.921000	0.36526	0.996000	0.88848	0.097000	0.15168	-0.120000	0.11809	0.425000	0.28330	ATT		0.498	TCEAL4-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252339.2	NM_024863	
SLC25A5	292	mdanderson.org	37	X	118603756	118603756	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:118603756T>A	ENST00000317881.8	+	2	360	c.244T>A	c.(244-246)Ttc>Atc	p.F82I	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	82					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CATCAGATACTTCCCCACCCA	0.493																																						.											0													122.0	118.0	120.0					X																	118603756		2203	4300	6503	SO:0001583	missense	292			BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.244T>A	X.37:g.118603756T>A	ENSP00000360671:p.Phe82Ile		B2RCV1|O43350	Missense_Mutation	SNP	ENST00000317881.8	37	CCDS14578.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146439	0.77888	.	.	ENSG00000005022	ENST00000317881	T	0.78003	-1.14	4.18	4.18	0.49190	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.83483	2.645	0.80722	D	1	P	0.47302	0.893	P	0.46718	0.525	D	0.84987	0.0892	10	0.87932	D	0	.	12.1849	0.54231	0.0:0.0:0.0:1.0	.	82	P05141	ADT2_HUMAN	I	82	ENSP00000360671:F82I	ENSP00000360671:F82I	F	+	1	0	SLC25A5	118487784	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.562000	0.82300	1.622000	0.50330	0.430000	0.28490	TTC		0.493	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058952.2	NM_001152	
USP8	9101	mdanderson.org	37	15	50784990	50784990	+	Missense_Mutation	SNP	T	T	C	rs146125856	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:50784990T>C	ENST00000396444.3	+	15	2665	c.2327T>C	c.(2326-2328)cTt>cCt	p.L776P	RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Missense_Mutation_p.L670P|USP8_ENST00000307179.4_Missense_Mutation_p.L776P|USP8_ENST00000433963.1_Missense_Mutation_p.L776P	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	776					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.L776P(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGACCAGCTCTTACTGGACTT	0.418																																						.											1	Substitution - Missense(1)	central_nervous_system(1)											126.0	112.0	117.0					15																	50784990		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2327T>C	15.37:g.50784990T>C	ENSP00000379721:p.Leu776Pro		B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	ENST00000396444.3	37	CCDS10137.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.062687	0.76187	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032;ENST00000419830;ENST00000396440	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.22	5.22	0.72569	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (1);	0.000000	0.85682	D	0.000000	T	0.57562	0.2062	M	0.80332	2.49	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.71870	0.924;0.975	T	0.63906	-0.6531	10	0.72032	D	0.01	-8.8207	15.3993	0.74827	0.0:0.0:0.0:1.0	.	670;776	B4DKA8;P40818	.;UBP8_HUMAN	P	776;776;776;670;1;1	ENSP00000379721:L776P;ENSP00000405537:L776P;ENSP00000302239:L776P;ENSP00000412682:L670P	ENSP00000302239:L776P	L	+	2	0	USP8	48572282	1.000000	0.71417	0.994000	0.49952	0.822000	0.46500	7.435000	0.80391	2.096000	0.63516	0.528000	0.53228	CTT		0.418	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	
ZNF28	7576	mdanderson.org	37	19	53303182	53303182	+	Missense_Mutation	SNP	T	T	C	rs142391659		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:53303182T>C	ENST00000457749.2	-	4	2035	c.1916A>G	c.(1915-1917)gAg>gGg	p.E639G	ZNF28_ENST00000414252.2_Missense_Mutation_p.E586G|ZNF28_ENST00000438150.2_Missense_Mutation_p.E586G|ZNF28_ENST00000360272.4_Missense_Mutation_p.E586G	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	639					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CTTGCCACACTCATTACACTT	0.428																																						.											0													193.0	181.0	185.0					19																	53303182		2203	4300	6503	SO:0001583	missense	7576			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1916A>G	19.37:g.53303182T>C	ENSP00000397693:p.Glu639Gly		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Missense_Mutation	SNP	ENST00000457749.2	37	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	10.84	1.465403	0.26335	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	1.81	0.634	0.17718	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40546	0.1121	L	0.47716	1.5	0.09310	N	1	D	0.60575	0.988	P	0.55615	0.78	T	0.22695	-1.0209	9	0.72032	D	0.01	.	5.8153	0.18490	0.2376:0.0:0.0:0.7624	.	639	P17035	ZNF28_HUMAN	G	586;639;586;586	ENSP00000412143:E586G;ENSP00000397693:E639G;ENSP00000353410:E586G;ENSP00000444965:E586G	ENSP00000353410:E586G	E	-	2	0	ZNF28	57994994	0.000000	0.05858	0.024000	0.17045	0.568000	0.35870	-0.093000	0.11111	-0.035000	0.13691	0.248000	0.18094	GAG		0.428	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2	NM_006969	
ZNF469	84627	mdanderson.org	37	16	88501386	88501386	+	Missense_Mutation	SNP	C	C	A	rs141218390	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr16:88501386C>A	ENST00000437464.1	+	2	7424	c.7424C>A	c.(7423-7425)gCg>gAg	p.A2475E	ZNF469_ENST00000565624.1_Missense_Mutation_p.A2503E	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGAGCCCCCGCGGAGCCGAGC	0.701													C|||	448	0.0894569	0.062	0.0548	5008	,	,		13126	0.0853		0.0895	False		,,,				2504	0.1554					.											0								C	GLU/ALA	63,1317		1,61,628	8.0	11.0	10.0		7424	0.8	0.0	16	dbSNP_134	10	193,2971		6,181,1395	yes	missense	ZNF469	NM_001127464.1	107	7,242,2023	AA,AC,CC		6.0999,4.5652,5.6338	probably-damaging	2475/3926	88501386	256,4288	690	1582	2272	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.7424C>A	16.37:g.88501386C>A	ENSP00000402343:p.Ala2475Glu			Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	167	0.07646520146520147	30	0.06097560975609756	29	0.08011049723756906	43	0.07517482517482517	65	0.08575197889182058	C	8.663	0.900935	0.17760	0.045652	0.060999	ENSG00000225614	ENST00000437464	T	0.47528	0.84	4.02	0.783	0.18572	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.80722	P	0.0	B	0.34372	0.451	B	0.24848	0.056	T	0.06991	-1.0796	8	0.56958	D	0.05	.	5.065	0.14578	0.0:0.5808:0.1754:0.2438	.	2475	Q96JG9	ZN469_HUMAN	E	2475	ENSP00000402343:A2475E	ENSP00000402343:A2475E	A	+	2	0	ZNF469	87028887	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.225000	0.09151	0.638000	0.30545	0.491000	0.48974	GCG		0.701	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZNF676	163223	mdanderson.org	37	19	22363610	22363610	+	Silent	SNP	A	A	G	rs201622264	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363610A>G	ENST00000397121.2	-	3	1226	c.909T>C	c.(907-909)caT>caC	p.H303H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	303					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTCCAGTATGAATTCTCT	0.443																																						.											0													81.0	83.0	83.0					19																	22363610		2112	4258	6370	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.909T>C	19.37:g.22363610A>G			A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.443	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF676	163223	mdanderson.org	37	19	22363615	22363615	+	Missense_Mutation	SNP	T	T	C	rs76328545	byFrequency	TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr19:22363615T>C	ENST00000397121.2	-	3	1221	c.904A>G	c.(904-906)Att>Gtt	p.I302V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	302					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)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCAGTATGAATTCTCTTATGT	0.428																																						.											0													85.0	88.0	87.0					19																	22363615		2125	4266	6391	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.904A>G	19.37:g.22363615T>C	ENSP00000380310:p.Ile302Val		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.103	-1.149580	0.01714	.	.	ENSG00000196109	ENST00000397121	T	0.00986	5.47	0.85	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00580	0.0019	N	0.05534	-0.03	0.20196	N	0.999929	B	0.15930	0.015	B	0.18871	0.023	T	0.51004	-0.8760	9	0.62326	D	0.03	.	0.401	0.00426	0.2032:0.1668:0.2049:0.4252	.	302	Q8N7Q3	ZN676_HUMAN	V	302	ENSP00000380310:I302V	ENSP00000380310:I302V	I	-	1	0	ZNF676	22155455	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.149000	0.10204	-3.301000	0.00192	-3.318000	0.00044	ATT		0.428	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
C1RL	51279	bcgsc.ca	37	12	7252316	7252316	+	Silent	SNP	T	T	C	rs146214220		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr12:7252316T>C	ENST00000266542.4	-	5	749	c.657A>G	c.(655-657)agA>agG	p.R219R	C1RL_ENST00000544702.1_Missense_Mutation_p.D235G|C1RL_ENST00000504702.2_5'Flank|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	219					complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCATCCTGTCTGTCTTTCC	0.552																																						.											0								T		0,4392		0,0,2196	77.0	55.0	62.0		657	-4.9	0.0	12	dbSNP_134	62	1,8589		0,1,4294	no	coding-synonymous	C1RL	NM_016546.2		0,1,6490	CC,CT,TT		0.0116,0.0,0.0077		219/488	7252316	1,12981	2196	4295	6491	SO:0001819	synonymous_variant	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.657A>G	12.37:g.7252316T>C			Q53GX9	Silent	SNP	ENST00000266542.4	37	CCDS8573.1	.	.	.	.	.	.	.	.	.	.	T	11.61	1.688828	0.29962	0.0	1.16E-4	ENSG00000139178	ENST00000544702	T	0.36520	1.25	3.85	-4.92	0.03075	.	.	.	.	.	T	0.14830	0.0358	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.23976	-1.0173	7	.	.	.	.	1.1981	0.01879	0.1477:0.2867:0.3024:0.2632	.	235	F5GWF3	.	G	235	ENSP00000441885:D235G	.	D	-	2	0	C1RL	7143458	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.521000	0.06245	-1.021000	0.03350	0.374000	0.22700	GAC		0.552	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	NM_016546	
DENND4A	10260	bcgsc.ca	37	15	65982751	65982751	+	Splice_Site	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr15:65982751A>G	ENST00000431932.2	-	22	4256		c.e22+1		DENND4A_ENST00000567323.1_Splice_Site|DENND4A_ENST00000443035.3_Splice_Site	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A						positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AACCAAACTTACCTTAGATGA	0.373																																						.											0													107.0	97.0	100.0					15																	65982751		2008	4163	6171	SO:0001630	splice_region_variant	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.4047+1T>C	15.37:g.65982751A>G			E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Splice_Site	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.025883	0.35701	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5398	0.76035	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DENND4A	63769805	1.000000	0.71417	0.969000	0.41365	0.368000	0.29767	8.310000	0.89971	2.083000	0.62718	0.528000	0.53228	.		0.373	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	Intron
SLC4A5	57835	bcgsc.ca	37	2	74480132	74480132	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:74480132G>A	ENST00000377634.4	-	15	1636	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	SLC4A5_ENST00000357822.5_Missense_Mutation_p.P413S|SLC4A5_ENST00000394019.2_Missense_Mutation_p.P413S|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P413S|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P349S|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P413S|SLC4A5_ENST00000359484.4_Missense_Mutation_p.P349S|RP11-287D1.3_ENST00000451608.2_3'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5											breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCTTGGGGGGCTCAATCCGG	0.493																																						.											0													69.0	67.0	67.0					2																	74480132		2203	4300	6503	SO:0001583	missense	57835			AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.1237C>T	2.37:g.74480132G>A	ENSP00000366861:p.Pro413Ser			Missense_Mutation	SNP	ENST00000377634.4	37	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829499	0.90955	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35;-1.35	5.4	5.4	0.78164	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	0.000000	0.85682	D	0.000000	D	0.88926	0.6570	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.998;0.997;1.0	D;D;D;D;D	0.91635	0.993;0.962;0.988;0.947;0.999	D	0.88751	0.3250	10	0.54805	T	0.06	.	16.7038	0.85366	0.0:0.0:1.0:0.0	.	413;413;349;413;413	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	S	413;413;413;349;413;349;413;413;413;413	ENSP00000377587:P413S;ENSP00000251768:P413S;ENSP00000352461:P349S;ENSP00000395804:P413S;ENSP00000351513:P349S;ENSP00000350475:P413S;ENSP00000366859:P413S;ENSP00000366861:P413S;ENSP00000405678:P413S	ENSP00000251768:P413S	P	-	1	0	SLC4A5	74333640	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	9.657000	0.98554	2.813000	0.96785	0.561000	0.74099	CCC		0.493	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3		
IL1R2	7850	bcgsc.ca	37	2	102632493	102632493	+	Missense_Mutation	SNP	G	G	A	rs529315850		TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr2:102632493G>A	ENST00000332549.3	+	4	722	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	IL1R2_ENST00000393414.2_Missense_Mutation_p.V165M|IL1R2_ENST00000441002.1_Missense_Mutation_p.V165M	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	165	Ig-like C2-type 2.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						CAAAACTGACGTGAAGATTCA	0.373																																					Pancreas(106;189 1628 2302 5133 12295)	.											0													62.0	59.0	60.0					2																	102632493		2203	4300	6503	SO:0001583	missense	7850			X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.493G>A	2.37:g.102632493G>A	ENSP00000330959:p.Val165Met		D3DVJ5|Q6LCE6|Q9UE68	Missense_Mutation	SNP	ENST00000332549.3	37	CCDS2054.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127830	0.37533	.	.	ENSG00000115590	ENST00000332549;ENST00000393414;ENST00000457817;ENST00000441002	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.53	-11.1	0.00147	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.398540	0.04271	N	0.342070	T	0.49150	0.1540	N	0.11201	0.11	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.35992	-0.9766	10	0.33141	T	0.24	.	2.4708	0.04564	0.2547:0.3935:0.1081:0.2437	.	165	P27930	IL1R2_HUMAN	M	165	ENSP00000330959:V165M;ENSP00000377066:V165M;ENSP00000408415:V165M;ENSP00000414611:V165M	ENSP00000330959:V165M	V	+	1	0	IL1R2	101998925	0.000000	0.05858	0.000000	0.03702	0.983000	0.72400	-2.840000	0.00738	-2.238000	0.00712	-0.165000	0.13383	GTG		0.373	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
TOP2B	7155	bcgsc.ca	37	3	25647567	25647571	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	GAGAA	GAGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr3:25647567_25647571delGAGAA	ENST00000264331.4	-	32	4340_4344	c.4341_4345delTTCTC	c.(4339-4347)ctttctccafs	p.SP1448fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.SP300fs|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.SP1443fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.SP300fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1448					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GAAGGAAATGAGAAGAGATTTCCAA	0.302																																						.											0																																										SO:0001589	frameshift_variant	7155			X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.4341_4345delTTCTC	3.37:g.25647567_25647571delGAGAA	ENSP00000264331:p.Ser1448fs		Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37																																																																																					0.302	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			
RADIL	55698	bcgsc.ca	37	7	4917349	4917349	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chr7:4917349A>G	ENST00000399583.3	-	2	609	c.422T>C	c.(421-423)cTc>cCc	p.L141P	RADIL_ENST00000536091.1_Missense_Mutation_p.L141P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	141	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CTGGATCAAGAGGGGCTTCTC	0.617																																						.											0													60.0	67.0	65.0					7																	4917349		1940	4139	6079	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.422T>C	7.37:g.4917349A>G	ENSP00000382492:p.Leu141Pro		A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.224795	0.79576	.	.	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000536091	T;T	0.26957	1.7;1.7	5.84	5.84	0.93424	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65170	-0.6233	10	0.87932	D	0	-47.2017	15.3975	0.74808	1.0:0.0:0.0:0.0	.	141	Q96JH8	RADIL_HUMAN	P	141;115;141	ENSP00000382492:L141P;ENSP00000442533:L141P	ENSP00000320946:L115P	L	-	2	0	RADIL	4883875	1.000000	0.71417	0.999000	0.59377	0.710000	0.40934	8.943000	0.92975	2.235000	0.73313	0.459000	0.35465	CTC		0.617	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
UBA1	7317	bcgsc.ca	37	X	47058254	47058254	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8346-01A-11D-2310-10	TCGA-KL-8346-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	bd2ec47b-a120-4b3b-b10d-aee09805ab33	684b307d-9053-47dc-b223-a5b491327703	g.chrX:47058254A>G	ENST00000335972.6	+	2	236	c.53A>G	c.(52-54)aAg>aGg	p.K18R	UBA1_ENST00000377351.4_Missense_Mutation_p.K18R	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	18					cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTGATCCAAAGCCGGGTTCT	0.602																																						.											0													98.0	75.0	83.0					X																	47058254		2203	4300	6503	SO:0001583	missense	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.53A>G	X.37:g.47058254A>G	ENSP00000338413:p.Lys18Arg		Q5JRR8|Q96E13	Missense_Mutation	SNP	ENST00000335972.6	37	CCDS14275.1	.	.	.	.	.	.	.	.	.	.	A	19.47	3.833108	0.71258	.	.	ENSG00000130985	ENST00000377351;ENST00000412206;ENST00000427561;ENST00000442035;ENST00000457753;ENST00000335972;ENST00000451702	T;T;D;T;T;T;T	0.83335	0.93;-0.09;-1.71;-0.1;-1.2;0.93;-0.76	5.3	5.3	0.74995	.	0.047429	0.85682	D	0.000000	T	0.70850	0.3271	N	0.19112	0.55	0.80722	D	1	B	0.23735	0.09	B	0.21708	0.036	T	0.65981	-0.6036	10	0.17832	T	0.49	-11.736	13.4039	0.60900	1.0:0.0:0.0:0.0	.	18	P22314	UBA1_HUMAN	R	18;18;32;32;69;18;69	ENSP00000366568:K18R;ENSP00000415033:K18R;ENSP00000397816:K32R;ENSP00000389583:K32R;ENSP00000404796:K69R;ENSP00000338413:K18R;ENSP00000401101:K69R	ENSP00000338413:K18R	K	+	2	0	UBA1	46943198	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.578000	0.74032	1.876000	0.54355	0.483000	0.47432	AAG		0.602	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056389.1	NM_003334	
