#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AKR1C4	1109	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	5254675	5254675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:5254675C>T	ENST00000380448.1	+	8	920	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C4_ENST00000263126.1_Nonsense_Mutation_p.R223*			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	223					androgen metabolic process (GO:0008209)|bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|bile acid transmembrane transporter activity (GO:0015125)|chlordecone reductase activity (GO:0047743)|electron carrier activity (GO:0009055)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|retinal dehydrogenase activity (GO:0001758)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18						GGGAACCCAACGACATAAACT	0.393																																						.											0													77.0	71.0	73.0					10																	5254675		2203	4300	6503	SO:0001587	stop_gained	1109			M33375	CCDS7064.1	10p15.1	2012-12-04	2012-12-04		ENSG00000198610	ENSG00000198610	1.1.1.225	"""Aldo-keto reductases"""	387	protein-coding gene	gene with protein product	"""chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4"""	600451	"""aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4)"""	CHDR		7789999	Standard	NM_001818		Approved	DD4, HAKRA, C11, 3-alpha-HSD, CDR, MGC22581	uc001ihw.2	P17516	OTTHUMG00000017591	ENST00000380448.1:c.667C>T	10.37:g.5254675C>T	ENSP00000369814:p.Arg223*	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6A3|Q8WW84|Q9NS54	Nonsense_Mutation	SNP	ENST00000380448.1	37	CCDS7064.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626677	0.87560	.	.	ENSG00000198610	ENST00000380448;ENST00000263126	.	.	.	3.13	0.608	0.17569	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.081	0.30744	0.6583:0.3417:0.0:0.0	.	.	.	.	X	223	.	ENSP00000263126:R223X	R	+	1	2	AKR1C4	5244675	0.000000	0.05858	0.001000	0.08648	0.120000	0.20174	-0.385000	0.07379	0.249000	0.21456	0.313000	0.20887	CGA		0.393	AKR1C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046543.2	NM_001818	
ZNF365	22891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	10	64136341	64136341	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:64136341C>A	ENST00000395254.3	+	2	669	c.389C>A	c.(388-390)aCt>aAt	p.T130N	ZNF365_ENST00000395255.3_Missense_Mutation_p.T130N|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.T130N	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	189										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAGACCTACACTGCCATGGAC	0.527																																						.											0													98.0	83.0	88.0					10																	64136341		2203	4300	6503	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.389C>A	10.37:g.64136341C>A	ENSP00000378674:p.Thr130Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000395254.3	37	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	C	14.01	2.409271	0.42715	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	4.7	0.59300	.	0.513588	0.19924	N	0.103030	T	0.36496	0.0969	M	0.64997	1.995	0.58432	D	0.999995	P;B;B;B	0.47910	0.902;0.078;0.161;0.328	B;B;B;B	0.43478	0.421;0.107;0.107;0.107	T	0.17868	-1.0355	10	0.46703	T	0.11	-3.0892	8.0517	0.30581	0.0:0.7281:0.1338:0.1381	.	130;130;130;145	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	N	130	ENSP00000378674:T130N;ENSP00000378675:T130N;ENSP00000387091:T130N	ENSP00000378674:T130N	T	+	2	0	ZNF365	63806347	0.348000	0.24861	0.713000	0.30519	0.989000	0.77384	1.714000	0.37961	1.344000	0.45657	0.555000	0.69702	ACT		0.527	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951	
OR9I1	219954	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	11	57886020	57886020	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:57886020G>A	ENST00000302610.1	-	1	896	c.897C>T	c.(895-897)gaC>gaT	p.D299D	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TTCTGAAGGCGTCTTTTACAT	0.428																																						.											0													125.0	130.0	129.0					11																	57886020		2201	4296	6497	SO:0001819	synonymous_variant	219954			AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.897C>T	11.37:g.57886020G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	CCDS31542.1																																																																																				0.428	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211	
INTS5	80789	hgsc.bcm.edu;ucsc.edu	37	11	62417411	62417411	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:62417411G>A	ENST00000330574.2	-	2	193	c.141C>T	c.(139-141)ggC>ggT	p.G47G	RP11-831H9.11_ENST00000528405.1_3'UTR	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	47					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AGAGTTGGTGGCCCAGAATGG	0.537																																						.											0													73.0	81.0	78.0					11																	62417411		2202	4299	6501	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.141C>T	11.37:g.62417411G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6W5|Q9C0G5	Silent	SNP	ENST00000330574.2	37	CCDS8027.1																																																																																				0.537	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628	
KDM2A	22992	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	67022407	67022407	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:67022407A>T	ENST00000529006.2	+	21	3816	c.3370A>T	c.(3370-3372)Atc>Ttc	p.I1124F	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.I582F|KDM2A_ENST00000398645.2_3'UTR|KDM2A_ENST00000530342.1_Missense_Mutation_p.I685F	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1124					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						CGTCACCTTGATCGACCTTCG	0.502																																						.											0													100.0	95.0	97.0					11																	67022407		2034	4199	6233	SO:0001583	missense	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3370A>T	11.37:g.67022407A>T	ENSP00000432786:p.Ile1124Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Missense_Mutation	SNP	ENST00000529006.2	37	CCDS44657.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.978847	0.74360	.	.	ENSG00000173120	ENST00000529006;ENST00000530342;ENST00000308783	T;T;T	0.18810	2.19;2.19;2.19	5.32	5.32	0.75619	.	0.065369	0.64402	D	0.000007	T	0.39572	0.1083	M	0.69463	2.115	0.49389	D	0.999786	D;P	0.58620	0.983;0.651	P;B	0.56088	0.791;0.353	T	0.28681	-1.0036	10	0.87932	D	0	-15.8009	15.4479	0.75248	1.0:0.0:0.0:0.0	.	685;1124	E9PIL6;Q9Y2K7	.;KDM2A_HUMAN	F	1124;685;582	ENSP00000432786:I1124F;ENSP00000435776:I685F;ENSP00000309302:I582F	ENSP00000309302:I582F	I	+	1	0	KDM2A	66778983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.457000	0.60088	2.228000	0.72767	0.533000	0.62120	ATC		0.502	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308	
DNM3	26052	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	171890935	171890935	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:171890935T>C	ENST00000355305.5	+	2	366	c.209T>C	c.(208-210)gTg>gCg	p.V70A	DNM3_ENST00000367733.2_Missense_Mutation_p.V70A|DNM3_ENST00000367731.1_Missense_Mutation_p.V70A|DNM3_ENST00000520906.1_Missense_Mutation_p.V70A|DNM3_ENST00000358155.4_Missense_Mutation_p.V70A			Q9UQ16	DYN3_HUMAN	dynamin 3	70	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGACCTCTTGTGCTGCAGCTT	0.448																																						.											0													121.0	114.0	116.0					1																	171890935		1914	4123	6037	SO:0001583	missense	26052			AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.209T>C	1.37:g.171890935T>C	ENSP00000347457:p.Val70Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37		.	.	.	.	.	.	.	.	.	.	T	24.3	4.514110	0.85389	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97041	-4.22;-4.22;-4.22;-4.22;-4.22	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.90145	3.09	0.45883	D	0.998739	P;D;D;P	0.56287	0.749;0.966;0.975;0.862	P;D;D;P	0.67382	0.826;0.923;0.951;0.791	D	0.99501	1.0953	10	0.87932	D	0	.	12.5617	0.56286	0.0:0.0:0.0:1.0	.	70;70;70;70	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	A	70	ENSP00000350876:V70A;ENSP00000356707:V70A;ENSP00000347457:V70A;ENSP00000356705:V70A;ENSP00000429701:V70A	ENSP00000347457:V70A	V	+	2	0	DNM3	170157558	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.662000	0.61525	2.217000	0.71921	0.533000	0.62120	GTG		0.448	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
PLEKHB1	58473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	73360070	73360070	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:73360070C>A	ENST00000354190.5	+	2	463	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	PLEKHB1_ENST00000544532.1_3'UTR|PLEKHB1_ENST00000398494.4_5'UTR|PLEKHB1_ENST00000227214.6_5'UTR|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.S11Y|PLEKHB1_ENST00000543085.1_5'UTR|PLEKHB1_ENST00000535129.1_5'UTR	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	11					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CCGCCTGACTCCGCTCTGGAA	0.662																																						.											0													22.0	27.0	25.0					11																	73360070		2109	4234	6343	SO:0001583	missense	58473			AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.32C>A	11.37:g.73360070C>A	ENSP00000346127:p.Ser11Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	37	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.191379	0.38707	.	.	ENSG00000021300	ENST00000354190;ENST00000398492	.	.	.	4.41	3.49	0.39957	.	0.410743	0.23249	N	0.050278	T	0.26521	0.0648	N	0.08118	0	0.33815	D	0.628319	P;D	0.54207	0.553;0.965	B;P	0.47981	0.277;0.563	T	0.32508	-0.9904	9	0.59425	D	0.04	-3.2102	7.619	0.28175	0.0:0.8878:0.0:0.1122	.	11;11	Q9UF11-2;Q9UF11	.;PKHB1_HUMAN	Y	11	.	ENSP00000346127:S11Y	S	+	2	0	PLEKHB1	73037718	0.431000	0.25546	0.925000	0.36789	0.985000	0.73830	1.606000	0.36826	2.454000	0.82982	0.655000	0.94253	TCC		0.662	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1		
PDE3A	5139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	20522512	20522512	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:20522512G>A	ENST00000359062.3	+	1	334	c.294G>A	c.(292-294)gcG>gcA	p.A98A	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	98	Poly-Ala.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGGCGGCGGCGGAGGAGGAGG	0.741																																						.											0													4.0	4.0	4.0					12																	20522512		2028	4033	6061	SO:0001819	synonymous_variant	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.294G>A	12.37:g.20522512G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60865|Q13348|Q17RD1	Silent	SNP	ENST00000359062.3	37	CCDS31754.1																																																																																				0.741	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
GABRB3	2562	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	15	26825479	26825479	+	Silent	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:26825479A>T	ENST00000311550.5	-	6	780	c.669T>A	c.(667-669)gtT>gtA	p.V223V	GABRB3_ENST00000541819.2_Silent_p.V279V|GABRB3_ENST00000400188.3_Silent_p.V152V|GABRB3_ENST00000545868.1_Silent_p.V138V|GABRB3_ENST00000299267.4_Silent_p.V223V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	223					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGGCGAAGACAACATTCCTCG	0.557																																						.											0													114.0	105.0	108.0					15																	26825479		2203	4300	6503	SO:0001819	synonymous_variant	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.669T>A	15.37:g.26825479A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	CCDS10019.1																																																																																				0.557	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		
HCN4	10021	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	73617514	73617514	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:73617514C>T	ENST00000261917.3	-	6	2753	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	587					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CACCAGCTTCCGACAGTTAAA	0.612																																						.											0													121.0	114.0	116.0					15																	73617514		2198	4297	6495	SO:0001583	missense	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.1760G>A	15.37:g.73617514C>T	ENSP00000261917:p.Arg587Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770322	0.69992	.	.	ENSG00000138622	ENST00000261917	D	0.96745	-4.11	3.76	2.83	0.33086	Cyclic nucleotide-binding-like (1);	.	.	.	.	D	0.94338	0.8180	M	0.70595	2.14	0.58432	D	0.999997	D	0.65815	0.995	B	0.39590	0.304	D	0.92630	0.6115	9	0.51188	T	0.08	.	13.1458	0.59461	0.0:0.838:0.162:0.0	.	587	Q9Y3Q4	HCN4_HUMAN	Q	587	ENSP00000261917:R587Q	ENSP00000261917:R587Q	R	-	2	0	HCN4	71404567	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	5.838000	0.69388	0.779000	0.33543	0.561000	0.74099	CGG		0.612	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477	
RBFOX1	54715	hgsc.bcm.edu;ucsc.edu	37	16	7383011	7383011	+	Intron	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:7383011G>A	ENST00000550418.1	+	5	1015				RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000311745.5_Silent_p.A3A|RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000436368.2_Silent_p.A3A|RBFOX1_ENST00000355637.4_Silent_p.A3A|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000340209.4_5'UTR	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1						mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GCATGCTGGCGTCTCAAGGAG	0.478																																					Ovarian(157;934 2567 15163 39509)	.											0													231.0	186.0	201.0					16																	7383011		2197	4300	6497	SO:0001627	intron_variant	54715			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.28-185138G>A	16.37:g.7383011G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	CCDS55983.1																																																																																				0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
SLC13A5	284111	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	17	6606363	6606363	+	Nonsense_Mutation	SNP	G	G	T	rs148755614	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:6606363G>T	ENST00000433363.2	-	5	875	c.642C>A	c.(640-642)taC>taA	p.Y214*	SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.Y197*|SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.Y171*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.Y214*	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	214					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TGCTGGCCGCGTAGCAGATGC	0.622																																						.											0													146.0	118.0	127.0					17																	6606363		2203	4300	6503	SO:0001587	stop_gained	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.642C>A	17.37:g.6606363G>T	ENSP00000406220:p.Tyr214*	Somatic		WXS	Illumina HiSeq	Phase_I	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Nonsense_Mutation	SNP	ENST00000433363.2	37	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	G	8.165	0.790370	0.16258	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	.	.	.	5.47	-10.9	0.00192	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.9377	0.86207	0.4812:0.0:0.5188:0.0	.	.	.	.	X	214;214;171	.	ENSP00000293800:Y214X	Y	-	3	2	SLC13A5	6547087	0.005000	0.15991	0.049000	0.19019	0.093000	0.18481	-1.261000	0.02855	-2.109000	0.00838	-1.421000	0.01109	TAC		0.622	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7577018	7577018	+	Splice_Site	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7577018C>T	ENST00000269305.4	-	8	1109		c.e8+1		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(28)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCTTGCTTACCTCGCTTAGT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(28)|Whole gene deletion(8)|Deletion - Frameshift(2)	lung(7)|breast(7)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|large_intestine(2)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|ovary(2)|biliary_tract(1)|endometrium(1)|urinary_tract(1)|skin(1)|oesophagus(1)|prostate(1)	GRCh37	CD920913	TP53	D							127.0	112.0	117.0					17																	7577018		2203	4300	6503	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.919+1G>A	17.37:g.7577018C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	9.710	1.156918	0.21454	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.81	3.84	0.44239	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.038	0.36300	0.0:0.9:0.0:0.1	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7517743	1.000000	0.71417	0.939000	0.37840	0.223000	0.24884	4.456000	0.60081	1.259000	0.44117	0.561000	0.74099	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
TSHZ3	57616	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	31770165	31770165	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:31770165C>A	ENST00000240587.4	-	2	861	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	178					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGTGACACCTGCTGCAGCG	0.637																																						.											0													40.0	40.0	40.0					19																	31770165		2203	4300	6503	SO:0001583	missense	57616			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.534G>T	19.37:g.31770165C>A	ENSP00000240587:p.Gln178His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978299	0.34942	.	.	ENSG00000121297	ENST00000240587	T	0.14640	2.49	5.44	1.8	0.24995	.	0.076230	0.53938	N	0.000059	T	0.10809	0.0264	L	0.42245	1.32	0.46185	D	0.998919	P	0.44578	0.838	B	0.42422	0.387	T	0.09357	-1.0678	10	0.62326	D	0.03	-12.9685	2.8247	0.05482	0.0:0.3714:0.237:0.3916	.	178	Q63HK5	TSH3_HUMAN	H	178	ENSP00000240587:Q178H	ENSP00000240587:Q178H	Q	-	3	2	TSHZ3	36462005	0.993000	0.37304	1.000000	0.80357	0.997000	0.91878	0.314000	0.19432	0.639000	0.30564	0.655000	0.94253	CAG		0.637	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	36342723	36342723	+	Missense_Mutation	SNP	G	G	A	rs150180768		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36342723G>A	ENST00000378910.5	-	1	16	c.17C>T	c.(16-18)aCg>aTg	p.T6M	NPHS1_ENST00000591817.1_Intron|NPHS1_ENST00000353632.6_Missense_Mutation_p.T6M	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	6					cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AGCCCTGAGCGTCGTCCCCAG	0.637													g|||	1	0.000199681	0.0	0.0014	5008	,	,		13427	0.0		0.0	False		,,,				2504	0.0					.											0								A	MET/THR	1,4273		0,1,2136	52.0	41.0	45.0		17	-9.1	0.0	19	dbSNP_134	45	0,8332		0,0,4166	no	missense	NPHS1	NM_004646.3	81	0,1,6302	AA,AG,GG		0.0,0.0234,0.0079	benign	6/1242	36342723	1,12605	2137	4166	6303	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.17C>T	19.37:g.36342723G>A	ENSP00000368190:p.Thr6Met	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	g	8.225	0.803396	0.16397	2.34E-4	0.0	ENSG00000161270	ENST00000378910;ENST00000353632	T;T	0.73469	-0.73;-0.75	4.55	-9.11	0.00711	.	2.209620	0.01832	N	0.034790	T	0.38612	0.1047	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.49995	-0.8879	10	0.02654	T	1	0.0983	2.0626	0.03596	0.4264:0.0955:0.2857:0.1924	.	6	O60500	NPHN_HUMAN	M	6	ENSP00000368190:T6M;ENSP00000343634:T6M	ENSP00000343634:T6M	T	-	2	0	NPHS1	41034563	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.640000	0.02009	-2.213000	0.00735	-2.211000	0.00300	ACG		0.637	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
ZNF260	339324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	19	37006030	37006030	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:37006030G>A	ENST00000523638.1	-	3	1232	c.111C>T	c.(109-111)agC>agT	p.S37S	ZNF260_ENST00000588993.1_Silent_p.S37S|ZNF260_ENST00000592282.1_Silent_p.S37S|ZNF260_ENST00000593142.1_Silent_p.S37S	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	37					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTTGCTTCAGGCTAAAAGTTT	0.373																																						.											0													104.0	103.0	104.0					19																	37006030		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.111C>T	19.37:g.37006030G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q0VF43	Silent	SNP	ENST00000523638.1	37	CCDS33003.1																																																																																				0.373	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2	NM_001012756	
CYP2F1	1572	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	41628786	41628786	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41628786C>A	ENST00000331105.2	+	7	954	c.882C>A	c.(880-882)aaC>aaA	p.N294K		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	294					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCACACATAACCTGCTCTTTG	0.572																																						.											0													244.0	174.0	198.0					19																	41628786		2203	4300	6503	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.882C>A	19.37:g.41628786C>A	ENSP00000333534:p.Asn294Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	ENST00000331105.2	37	CCDS12572.1	.	.	.	.	.	.	.	.	.	.	c	12.73	2.024986	0.35701	.	.	ENSG00000197446	ENST00000331105	T	0.68479	-0.33	2.85	1.79	0.24919	.	0.175028	0.47093	U	0.000243	T	0.77631	0.4159	M	0.76838	2.35	0.36093	D	0.843621	D;D;D	0.89917	1.0;1.0;0.988	D;D;P	0.78314	0.991;0.983;0.724	T	0.79836	-0.1635	10	0.87932	D	0	.	7.3987	0.26952	0.0:0.859:0.0:0.141	.	80;294;294	B4DL83;Q32MN5;P24903	.;.;CP2F1_HUMAN	K	294	ENSP00000333534:N294K	ENSP00000333534:N294K	N	+	3	2	CYP2F1	46320626	0.228000	0.23718	0.786000	0.31890	0.139000	0.21198	0.433000	0.21477	0.414000	0.25790	0.398000	0.26397	AAC		0.572	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2		
NLRP4	147945	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	56373450	56373450	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:56373450C>T	ENST00000301295.6	+	5	2533	c.2111C>T	c.(2110-2112)aCg>aTg	p.T704M	NLRP4_ENST00000587891.1_Missense_Mutation_p.T629M|NLRP4_ENST00000346986.5_Missense_Mutation_p.T704M	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	704					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCACCCTCACGAAACTCTCT	0.463																																						.											0													147.0	134.0	138.0					19																	56373450		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2111C>T	19.37:g.56373450C>T	ENSP00000301295:p.Thr704Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	12.34	1.909368	0.33721	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	T;T	0.54279	0.58;0.58	3.26	-3.02	0.05446	.	.	.	.	.	T	0.60379	0.2264	M	0.69523	2.12	0.09310	N	1	D;D;D	0.71674	0.992;0.998;0.998	P;D;P	0.62955	0.843;0.909;0.814	T	0.52771	-0.8531	9	0.54805	T	0.06	.	4.1785	0.10363	0.0:0.3701:0.1775:0.4525	.	704;629;704	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	M	704	ENSP00000301295:T704M;ENSP00000344787:T704M	ENSP00000301295:T704M	T	+	2	0	NLRP4	61065262	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.150000	0.16263	-0.499000	0.06623	-0.253000	0.11424	ACG		0.463	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
ZNF831	128611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	20	57767954	57767954	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:57767954C>T	ENST00000371030.2	+	1	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	627							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGATGAGACGTTCAAAAGG	0.592																																						.											0													57.0	67.0	64.0					20																	57767954		2053	4197	6250	SO:0001583	missense	128611			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1880C>T	20.37:g.57767954C>T	ENSP00000360069:p.Thr627Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642329	0.67244	.	.	ENSG00000124203	ENST00000371030	T	0.21932	1.98	5.21	5.21	0.72293	.	0.000000	0.56097	D	0.000032	T	0.45054	0.1323	L	0.56769	1.78	0.45995	D	0.998803	D	0.89917	1.0	D	0.83275	0.996	T	0.39901	-0.9591	10	0.87932	D	0	-23.4817	17.7439	0.88414	0.0:1.0:0.0:0.0	.	627	Q5JPB2	ZN831_HUMAN	M	627	ENSP00000360069:T627M	ENSP00000360069:T627M	T	+	2	0	ZNF831	57201349	1.000000	0.71417	0.918000	0.36340	0.553000	0.35397	5.953000	0.70290	2.423000	0.82170	0.655000	0.94253	ACG		0.592	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457	
ERG	2078	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	39755470	39755470	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:39755470G>A	ENST00000417133.2	-	12	1501	c.1316C>T	c.(1315-1317)gCg>gTg	p.A439V	ERG_ENST00000288319.7_Missense_Mutation_p.A432V|ERG_ENST00000398919.2_Missense_Mutation_p.A439V|ERG_ENST00000442448.1_Missense_Mutation_p.A415V|ERG_ENST00000453032.2_Missense_Mutation_p.A340V|ERG_ENST00000398911.1_Missense_Mutation_p.A415V|ERG_ENST00000398897.1_Missense_Mutation_p.A316V|ERG_ENST00000398910.1_Missense_Mutation_p.A416V|ERG_ENST00000398907.1_Missense_Mutation_p.A409V|ERG_ENST00000398905.1_Missense_Mutation_p.A408V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	AGGGTGGGGCGCCACAAAGTT	0.572			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	.		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													49.0	50.0	49.0					21																	39755470		2203	4300	6503	SO:0001583	missense	2078				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1316C>T	21.37:g.39755470G>A	ENSP00000414150:p.Ala439Val	Somatic		WXS	Illumina HiSeq	Phase_I	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640809	0.67244	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.3	5.3	0.74995	.	0.360808	0.31566	N	0.007439	T	0.50565	0.1623	L	0.52573	1.65	0.80722	D	1	B;B;B;B	0.23854	0.024;0.048;0.092;0.08	B;B;B;B	0.25759	0.018;0.029;0.063;0.063	T	0.43196	-0.9406	10	0.27082	T	0.32	.	18.9951	0.92809	0.0:0.0:1.0:0.0	.	439;408;415;432	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	V	408;409;432;316;415;439;416;415;340;439	ENSP00000381877:A408V;ENSP00000381879:A409V;ENSP00000288319:A432V;ENSP00000381871:A316V;ENSP00000381882:A415V;ENSP00000414150:A439V;ENSP00000381881:A416V;ENSP00000394694:A415V;ENSP00000396268:A340V;ENSP00000381891:A439V	ENSP00000288319:A432V	A	-	2	0	ERG	38677340	1.000000	0.71417	0.977000	0.42913	0.967000	0.64934	8.005000	0.88553	2.462000	0.83206	0.655000	0.94253	GCG		0.572	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2	NM_182918	
TSPEAR	54084	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	21	45987842	45987842	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr21:45987842C>T	ENST00000323084.4	-	2	195	c.130G>A	c.(130-132)Gcc>Acc	p.A44T	TSPEAR_ENST00000397916.1_5'UTR	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	44					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CCGCTTGTGGCGCCATCAGAA	0.597																																						.											0													62.0	56.0	58.0					21																	45987842		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.130G>A	21.37:g.45987842C>T	ENSP00000321987:p.Ala44Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	c	3.616	-0.078592	0.07141	.	.	ENSG00000175894	ENST00000323084;ENST00000397918;ENST00000341581	T	0.40225	1.04	4.88	-1.4	0.08968	Concanavalin A-like lectin/glucanase (1);	1.112690	0.06793	U	0.787278	T	0.29783	0.0744	L	0.56769	1.78	0.09310	N	0.999992	B	0.31837	0.342	B	0.17098	0.017	T	0.18461	-1.0336	10	0.11182	T	0.66	0.2249	5.7612	0.18201	0.1232:0.5092:0.0:0.3676	.	44	Q8WU66	TSEAR_HUMAN	T	44	ENSP00000321987:A44T	ENSP00000321987:A44T	A	-	1	0	TSPEAR	44812270	0.001000	0.12720	0.000000	0.03702	0.030000	0.12068	0.359000	0.20233	-0.099000	0.12263	-0.218000	0.12543	GCC		0.597	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1	NM_144991	
SGSM3	27352	hgsc.bcm.edu;ucsc.edu	37	22	40802519	40802519	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr22:40802519C>T	ENST00000248929.9	+	10	1227	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	SGSM3_ENST00000454798.2_Silent_p.D279D	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						AGATGGAGGACGCGGAGCTGC	0.632																																						.											0													40.0	35.0	37.0					22																	40802519		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.1038C>T	22.37:g.40802519C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.632	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
MPHOSPH10	10199	broad.mit.edu;hgsc.bcm.edu	37	2	71366962	71366963	+	In_Frame_Ins	INS	-	-	AGG			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366962_71366963insAGG	ENST00000244230.2	+	6	1630_1631	c.1278_1279insAGG	c.(1279-1281)gat>AGGgat	p.426_427insR		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TTCAACTGGAAGATATCATTAA	0.337																																						.											0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366962_71366963insAGG	ENSP00000244230:p.Glu426_Asp427insArg	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	
PCGF1	84759	broad.mit.edu;hgsc.bcm.edu	37	2	74734182	74734183	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734182_74734183delCT	ENST00000233630.6	-	2	1096_1097	c.185_186delAG	c.(184-186)gagfs	p.E62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TATGAAGACACTCTGTGATGGT	0.515																																						.											0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.185_186delAG	2.37:g.74734184_74734185delCT	ENSP00000233630:p.Glu62fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.515	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	
RETSAT	54884	hgsc.bcm.edu;ucsc.edu	37	2	85573123	85573123	+	Silent	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:85573123C>A	ENST00000295802.4	-	6	1204	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	RETSAT_ENST00000263854.6_Silent_p.L364L|RETSAT_ENST00000457495.2_Silent_p.L303L|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	364					oxidation-reduction process (GO:0055114)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	all-trans-retinol 13,14-reductase activity (GO:0051786)|oxidoreductase activity (GO:0016491)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CGTTCCCCGGCAGTAGGTGTT	0.587																																						.											0													127.0	114.0	118.0					2																	85573123		2203	4300	6503	SO:0001819	synonymous_variant	54884			AK075261	CCDS1972.1	2p11.2	2008-02-05			ENSG00000042445	ENSG00000042445	1.3.99.23		25991	protein-coding gene	gene with protein product						12975309, 15358783	Standard	NM_017750		Approved	FLJ20296	uc002spd.3	Q6NUM9	OTTHUMG00000154611	ENST00000295802.4:c.1092G>T	2.37:g.85573123C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NIK3|Q53R95|Q53SA9|Q6UX05|Q8N2H5|Q96FA4|Q9NXE5	Silent	SNP	ENST00000295802.4	37	CCDS1972.1	.	.	.	.	.	.	.	.	.	.	C	7.184	0.590258	0.13812	.	.	ENSG00000042445	ENST00000449375	.	.	.	5.4	2.58	0.30949	.	.	.	.	.	T	0.52948	0.1766	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40720	-0.9548	4	.	.	.	-14.5377	4.9111	0.13821	0.1676:0.6546:0.0:0.1777	.	.	.	.	F	153	.	.	C	-	2	0	RETSAT	85426634	0.999000	0.42202	0.227000	0.23927	0.128000	0.20619	0.670000	0.25157	0.238000	0.21222	0.467000	0.42956	TGC		0.587	RETSAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252489.1	NM_017750	
HDLBP	3069	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	2	242178175	242178175	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:242178175T>C	ENST00000391975.1	-	20	2865	c.2638A>G	c.(2638-2640)Ata>Gta	p.I880V	HDLBP_ENST00000427183.2_Missense_Mutation_p.I847V|HDLBP_ENST00000391976.2_Missense_Mutation_p.I880V|HDLBP_ENST00000310931.4_Missense_Mutation_p.I880V	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	880	KH 10. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TTCTGGGGTATAGCACATTCT	0.423																																						.											0													206.0	225.0	219.0					2																	242178175		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2638A>G	2.37:g.242178175T>C	ENSP00000375836:p.Ile880Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	CCDS2547.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.96|16.96	3.265395|3.265395	0.59431|0.59431	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	T;T;T;T|.	0.27104|.	1.69;1.69;1.69;1.69|.	6.05|6.05	6.05|6.05	0.98169|0.98169	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72622|0.72622	0.3483|0.3483	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	B;B|.	0.31769|.	0.086;0.339|.	B;B|.	0.42916|.	0.402;0.206|.	T|T	0.71097|0.71097	-0.4691|-0.4691	10|5	0.18276|.	T|.	0.48|.	-15.2285|-15.2285	16.6|16.6	0.84812|0.84812	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	847;880|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	V|C	880;880;880;847|688	ENSP00000375836:I880V;ENSP00000375837:I880V;ENSP00000312042:I880V;ENSP00000399139:I847V|.	ENSP00000312042:I880V|.	I|Y	-|-	1|2	0|0	HDLBP|HDLBP	241826848|241826848	1.000000|1.000000	0.71417|0.71417	0.090000|0.090000	0.20809|0.20809	0.994000|0.994000	0.84299|0.84299	7.955000|7.955000	0.87856|0.87856	2.323000|2.323000	0.78572|0.78572	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.423	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346	
NFKBIZ	64332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	101573954	101573954	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:101573954G>T	ENST00000326172.5	+	7	1607	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.D398Y|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.D376Y	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	498	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CATTGTGCAGGATCTGGTGAA	0.488																																						.											0													80.0	81.0	81.0					3																	101573954		2203	4300	6503	SO:0001583	missense	64332			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1492G>T	3.37:g.101573954G>T	ENSP00000325663:p.Asp498Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.924473	0.52653	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.58	5.58	0.84498	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.54062	0.1835	N	0.01729	-0.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.53913	-0.8371	10	0.02654	T	1	-14.7808	19.922	0.97089	0.0:0.0:1.0:0.0	.	376;498	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	Y	398;398;376;498	ENSP00000419800:D398Y;ENSP00000377618:D398Y;ENSP00000325593:D376Y;ENSP00000325663:D498Y	ENSP00000325593:D376Y	D	+	1	0	NFKBIZ	103056644	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.399000	0.97285	2.780000	0.95670	0.655000	0.94253	GAT		0.488	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	
KIAA2018	205717	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	113375944	113375944	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:113375944G>C	ENST00000478658.1	-	5	4602	c.4585C>G	c.(4585-4587)Cag>Gag	p.Q1529E	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.Q1529E			Q68DE3	K2018_HUMAN	KIAA2018	1529	Gln-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGGGTGCCCTGAACAAGATTC	0.517																																						.											0													111.0	111.0	111.0					3																	113375944		2016	4187	6203	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.4585C>G	3.37:g.113375944G>C	ENSP00000420721:p.Gln1529Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358247	0.61403	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.30981	1.51;1.51	5.91	5.01	0.66863	.	0.343150	0.31404	N	0.007717	T	0.23330	0.0564	L	0.27053	0.805	0.25898	N	0.983394	B	0.29716	0.255	B	0.21917	0.037	T	0.08106	-1.0738	10	0.38643	T	0.18	-2.0295	16.7864	0.85575	0.0:0.1291:0.8709:0.0	.	1529	Q68DE3	K2018_HUMAN	E	1529	ENSP00000320794:Q1529E;ENSP00000420721:Q1529E	ENSP00000320794:Q1529E	Q	-	1	0	KIAA2018	114858634	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	7.031000	0.76491	1.444000	0.47605	0.655000	0.94253	CAG		0.517	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899	
CENPE	1062	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	104101509	104101509	+	Missense_Mutation	SNP	G	G	C	rs528315425		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:104101509G>C	ENST00000265148.3	-	13	1290	c.1201C>G	c.(1201-1203)Ctg>Gtg	p.L401V	CENPE_ENST00000380026.3_Missense_Mutation_p.L401V|CENPE_ENST00000509120.1_5'UTR	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	401					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GAGGTCACCAGCATCCGTGTT	0.368																																						.											0													128.0	131.0	130.0					4																	104101509		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1201C>G	4.37:g.104101509G>C	ENSP00000265148:p.Leu401Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	ENST00000265148.3	37	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532371	0.45073	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.56941	0.43;0.43;0.43	5.23	3.47	0.39725	.	.	.	.	.	T	0.52933	0.1765	N	0.17248	0.465	0.36330	D	0.858786	D;P	0.89917	1.0;0.615	D;B	0.85130	0.997;0.219	T	0.57969	-0.7719	9	0.36615	T	0.2	.	9.7801	0.40643	0.2228:0.0:0.7772:0.0	.	401;401	Q02224-3;Q02224	.;CENPE_HUMAN	V	401	ENSP00000265148:L401V;ENSP00000369365:L401V;ENSP00000423981:L401V	ENSP00000265148:L401V	L	-	1	2	CENPE	104320958	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.467000	0.45093	1.336000	0.45506	0.563000	0.77884	CTG		0.368	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ICE1	23379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	5489408	5489408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:5489408G>T	ENST00000296564.7	+	19	6988	c.6766G>T	c.(6766-6768)Gaa>Taa	p.E2256*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		2256					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGCCTAGAGGAAGTCAGTGC	0.522																																						.											0													43.0	46.0	45.0					5																	5489408		2065	4204	6269	SO:0001587	stop_gained	23379																														ENST00000296564.7:c.6766G>T	5.37:g.5489408G>T	ENSP00000296564:p.Glu2256*	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	G	46	12.447786	0.99668	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.48087	D	0.999588	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.4235	15.3318	0.74219	0.0:0.0:1.0:0.0	.	.	.	.	X	2256	.	ENSP00000296564:E2256X	E	+	1	0	KIAA0947	5542408	0.998000	0.40836	0.774000	0.31636	0.012000	0.07955	3.987000	0.56944	2.763000	0.94921	0.650000	0.86243	GAA		0.522	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1		
DIMT1	27292	broad.mit.edu;hgsc.bcm.edu	37	5	61699551	61699570	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-	rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	190_209	c.30_49delCCGCCGCCGCGGGCGGCAGG	c.(28-51)ggccgccgccgcgggcggcaggagfs	p.RRRGRQE11fs	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.RRRGRQE11fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	11						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										CGGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCC	0.705																																						.											0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.30_49delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699551_61699570delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Arg11fs	Somatic		WXS	Illumina HiSeq	Phase_I	O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473	
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	5	145598649	145598649	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:145598649A>T	ENST00000265271.5	+	2	327	c.161A>T	c.(160-162)gAt>gTt	p.D54V	RBM27_ENST00000506502.1_Missense_Mutation_p.D54V	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	54					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATCAACTTGATGTCTTTTTA	0.353																																						.											0													151.0	141.0	144.0					5																	145598649		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.161A>T	5.37:g.145598649A>T	ENSP00000265271:p.Asp54Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534735	0.85812	.	.	ENSG00000091009	ENST00000265271	T	0.41758	0.99	5.69	5.69	0.88448	Splicing factor PWI (2);	0.000000	0.85682	D	0.000000	T	0.62974	0.2472	M	0.65975	2.015	0.80722	D	1	D;P	0.89917	1.0;0.484	D;P	0.75484	0.986;0.72	T	0.63143	-0.6703	10	0.45353	T	0.12	-18.5905	15.956	0.79889	1.0:0.0:0.0:0.0	.	54;54	Q9P2N5;B3KY61	RBM27_HUMAN;.	V	54	ENSP00000265271:D54V	ENSP00000265271:D54V	D	+	2	0	RBM27	145578842	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.292000	0.96076	2.167000	0.68274	0.533000	0.62120	GAT		0.353	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1	XM_291128	
FAM184A	79632	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	6	119345242	119345242	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:119345242C>T	ENST00000338891.7	-	2	1339	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	FAM184A_ENST00000521531.1_Missense_Mutation_p.R299Q|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000352896.5_Missense_Mutation_p.R179Q|FAM184A_ENST00000522284.1_Missense_Mutation_p.R179Q|FAM184A_ENST00000368475.4_Missense_Mutation_p.R179Q	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	299						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATAGTTTTTCGTAAAATTGC	0.393																																						.											0													113.0	108.0	109.0					6																	119345242		1819	4076	5895	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.896G>A	6.37:g.119345242C>T	ENSP00000342604:p.Arg299Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	0.155	-1.087649	0.01873	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531;ENST00000522284	T;T;T;T;T	0.00309	8.16;8.16;8.16;8.16;8.16	5.04	5.04	0.67666	.	0.153338	0.46145	D	0.000307	T	0.00039	0.0001	N	0.05574	-0.02	0.44595	D	0.997567	B;B;B	0.33120	0.341;0.196;0.398	B;B;B	0.25140	0.043;0.031;0.058	T	0.05451	-1.0884	10	0.02654	T	1	-4.3682	12.1631	0.54115	0.0:0.9206:0.0:0.0794	.	299;179;299	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	Q	299;179;179;299;179	ENSP00000342604:R299Q;ENSP00000326608:R179Q;ENSP00000357460:R179Q;ENSP00000430442:R299Q;ENSP00000429826:R179Q	ENSP00000342604:R299Q	R	-	2	0	FAM184A	119386941	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	5.303000	0.65738	2.506000	0.84524	0.460000	0.39030	CGA		0.393	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
CALD1	800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	7	134617794	134617794	+	Missense_Mutation	SNP	G	G	T	rs542527726		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:134617794G>T	ENST00000361675.2	+	5	503	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	CALD1_ENST00000543443.1_Missense_Mutation_p.D97Y|CALD1_ENST00000422748.1_Missense_Mutation_p.D92Y|CALD1_ENST00000495522.1_Missense_Mutation_p.D86Y|CALD1_ENST00000417172.1_Missense_Mutation_p.D92Y|CALD1_ENST00000361388.2_Missense_Mutation_p.D92Y|CALD1_ENST00000361901.2_Missense_Mutation_p.D92Y|CALD1_ENST00000424922.1_Missense_Mutation_p.D86Y|CALD1_ENST00000393118.2_Missense_Mutation_p.D86Y			Q05682	CALD1_HUMAN	caldesmon 1	92	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GGAAGGGGATGATGAGGCCGC	0.542																																						.											0													60.0	51.0	54.0					7																	134617794		2203	4300	6503	SO:0001583	missense	800			M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.274G>T	7.37:g.134617794G>T	ENSP00000354826:p.Asp92Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Missense_Mutation	SNP	ENST00000361675.2	37	CCDS5835.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671451	0.67814	.	.	ENSG00000122786	ENST00000417172;ENST00000436461;ENST00000361388;ENST00000422748;ENST00000361675;ENST00000361901;ENST00000445569;ENST00000393118;ENST00000424922;ENST00000495522;ENST00000543443	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43;0.43	5.38	5.38	0.77491	.	0.275906	0.26237	N	0.025538	T	0.71484	0.3345	M	0.73962	2.25	0.34097	D	0.661391	D;D;D;D;D;D;D;D	0.64830	0.992;0.983;0.979;0.992;0.979;0.979;0.993;0.994	P;P;P;P;P;P;D;D	0.64321	0.873;0.88;0.81;0.873;0.717;0.81;0.924;0.922	T	0.80944	-0.1156	10	0.72032	D	0.01	-14.924	17.3065	0.87196	0.0:0.0:1.0:0.0	.	97;92;86;86;92;92;92;92	F5H1Z9;A8K0X1;Q05682-5;Q05682-3;Q05682-4;Q05682-2;Q05682;Q9NYG1	.;.;.;.;.;.;CALD1_HUMAN;.	Y	92;92;92;92;92;92;106;86;86;86;97	ENSP00000398826:D92Y;ENSP00000411476:D92Y;ENSP00000355000:D92Y;ENSP00000395710:D92Y;ENSP00000354826:D92Y;ENSP00000354513:D92Y;ENSP00000390926:D106Y;ENSP00000376826:D86Y;ENSP00000393621:D86Y;ENSP00000419673:D86Y;ENSP00000445641:D97Y	ENSP00000355000:D92Y	D	+	1	0	CALD1	134268334	1.000000	0.71417	0.589000	0.28718	0.891000	0.51852	8.514000	0.90545	2.497000	0.84241	0.557000	0.71058	GAT		0.542	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138	
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu	37	7	143095693	143095693	+	Splice_Site	DEL	C	C	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095693delC	ENST00000275815.3	-	6	1423		c.e6+1			NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1						activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CAGCCTCTCACCTGCATGCCC	0.547																																						.											0													45.0	43.0	44.0					7																	143095693		2203	4300	6503	SO:0001630	splice_region_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1336+1G>-	7.37:g.143095693delC		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V3|B5A966|B5A967|Q15405	Splice_Site	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Intron
WDFY4	57705	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	50015972	50015972	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:50015972A>G	ENST00000325239.5	+	27	4834	c.4807A>G	c.(4807-4809)Ata>Gta	p.I1603V	WDFY4_ENST00000413659.2_Missense_Mutation_p.N1033S	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	1603						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						GCTCAGTGTAATATCTTCCCC	0.443																																						.											0													121.0	114.0	116.0					10																	50015972		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.4807A>G	10.37:g.50015972A>G	ENSP00000320563:p.Ile1603Val	Somatic		WXS	Illumina HiSeq	Phase_I	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.84|13.84	2.357222|2.357222	0.41801|0.41801	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239|ENST00000413659;ENST00000312002;ENST00000374161	T|T	0.54866|0.29655	0.55|1.56	5.88|5.88	3.54|3.54	0.40534|0.40534	.|.	0.382752|.	0.27358|.	N|.	0.019728|.	T|T	0.38852|0.38852	0.1056|0.1056	M|M	0.69823|0.69823	2.125|2.125	0.20821|0.20821	N|N	0.999844|0.999844	P;B|.	0.40431|.	0.717;0.199|.	B;B|.	0.41271|.	0.352;0.097|.	T|T	0.23404|0.23404	-1.0189|-1.0189	9|6	.|.	.|.	.|.	.|.	7.18|7.18	0.25768|0.25768	0.7796:0.1464:0.0741:0.0|0.7796:0.1464:0.0741:0.0	.|.	131;1603|.	F2Z372;Q6ZS81|.	.;WDFY4_HUMAN|.	V|S	1042;1603;1603|1033;693;149	ENSP00000320563:I1603V|ENSP00000403789:N1033S	.|.	I|N	+|+	1|2	0|0	WDFY4|WDFY4	49685978|49685978	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	2.908000|2.908000	0.48750|0.48750	0.479000|0.479000	0.27511|0.27511	0.519000|0.519000	0.50382|0.50382	ATA|AAT		0.443	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
C14orf93	60686	hgsc.bcm.edu	37	14	23468114	23468114	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:23468114G>A	ENST00000299088.6	-	2	548	c.119C>T	c.(118-120)cCt>cTt	p.P40L	RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000341470.4_Missense_Mutation_p.P40L|C14orf93_ENST00000397382.4_Missense_Mutation_p.P40L|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.P40L|C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000397379.3_Missense_Mutation_p.P40L|C14orf93_ENST00000557513.1_5'Flank	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	40						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		GCTGGGAGGAGGATTCCCACC	0.582																																						.											0													57.0	54.0	55.0					14																	23468114		2203	4300	6503	SO:0001583	missense	60686			AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.119C>T	14.37:g.23468114G>A	ENSP00000299088:p.Pro40Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	37	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532054	0.85812	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000406429;ENST00000397380;ENST00000553675;ENST00000553931;ENST00000555575;ENST00000553958;ENST00000555098;ENST00000555998	T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	5.93	5.93	0.95920	.	0.264815	0.33496	N	0.004842	T	0.59307	0.2184	L	0.27053	0.805	0.49798	D	0.999823	D;D	0.61697	0.99;0.99	P;P	0.61592	0.891;0.891	T	0.59925	-0.7362	10	0.56958	D	0.05	-29.0913	17.2707	0.87101	0.0:0.0:1.0:0.0	.	40;40	Q9H972;Q9H972-2	CN093_HUMAN;.	L	40	ENSP00000299088:P40L;ENSP00000341353:P40L;ENSP00000380535:P40L;ENSP00000380538:P40L;ENSP00000384768:P40L;ENSP00000380536:P40L;ENSP00000450771:P40L;ENSP00000452036:P40L;ENSP00000451111:P40L;ENSP00000451456:P40L;ENSP00000450866:P40L;ENSP00000451879:P40L	ENSP00000299088:P40L	P	-	2	0	C14orf93	22537954	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	5.305000	0.65750	2.826000	0.97356	0.655000	0.94253	CCT		0.582	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944	
MBTPS1	8720	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	16	84132706	84132706	+	Missense_Mutation	SNP	G	G	A	rs150244031		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:84132706G>A	ENST00000343411.3	-	3	868	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	125					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GGCGTGACCCGTTTGATGTTT	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		17262	0.001		0.0	False		,,,				2504	0.0					.											0													204.0	187.0	193.0					16																	84132706		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.373C>T	16.37:g.84132706G>A	ENSP00000344223:p.Arg125Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	CCDS10941.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.1	4.380802	0.82792	.	.	ENSG00000140943	ENST00000343411	T	0.42131	0.98	5.61	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	P	0.53809	0.735	T	0.59904	-0.7366	10	0.72032	D	0.01	-26.0657	15.3007	0.73949	0.0:0.0:0.8594:0.1406	.	125	Q14703	MBTP1_HUMAN	W	125	ENSP00000344223:R125W	ENSP00000344223:R125W	R	-	1	2	MBTPS1	82690207	1.000000	0.71417	0.948000	0.38648	0.975000	0.68041	3.038000	0.49783	2.648000	0.89879	0.650000	0.86243	CGG		0.418	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791	
ZFP82	284406	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	36884930	36884930	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:36884930C>T	ENST00000392161.3	-	5	554	c.312G>A	c.(310-312)atG>atA	p.M104I	ZFP82_ENST00000392171.1_Missense_Mutation_p.M104I	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	104					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(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAATTCTTTCCATTATCTTCC	0.328																																						.											0													74.0	80.0	78.0					19																	36884930		2203	4299	6502	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.312G>A	19.37:g.36884930C>T	ENSP00000431265:p.Met104Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	7.193	0.591840	0.13812	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07021	3.31;3.23	4.58	4.58	0.56647	.	0.000000	0.46442	D	0.000300	T	0.06826	0.0174	N	0.17278	0.47	0.29209	N	0.874688	B	0.14012	0.009	B	0.15484	0.013	T	0.13415	-1.0510	10	0.33940	T	0.23	.	16.6902	0.85319	0.0:1.0:0.0:0.0	.	104	Q8N141	ZFP82_HUMAN	I	104	ENSP00000431265:M104I;ENSP00000446080:M104I	ENSP00000431265:M104I	M	-	3	0	ZFP82	41576770	0.283000	0.24277	1.000000	0.80357	0.744000	0.42396	1.150000	0.31639	2.548000	0.85928	0.650000	0.86243	ATG		0.328	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	NM_133466	
STK11IP	114790	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	2	220473923	220473923	+	Silent	SNP	C	C	T	rs185836682	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:220473923C>T	ENST00000456909.1	+	16	2004	c.1914C>T	c.(1912-1914)caC>caT	p.H638H	STK11IP_ENST00000295641.10_Silent_p.H649H			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	649					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGATGCCCACGCAGCTGTCC	0.652													C|||	5	0.000998403	0.0	0.0	5008	,	,		17182	0.0		0.0	False		,,,				2504	0.0051					.											0													27.0	27.0	27.0					2																	220473923		2032	4181	6213	SO:0001819	synonymous_variant	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.1914C>T	2.37:g.220473923C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Silent	SNP	ENST00000456909.1	37																																																																																					0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000131432.1	NM_052902	
NOTCH4	4855	hgsc.bcm.edu	37	6	32168996	32168996	+	Missense_Mutation	SNP	C	C	T	rs8192573	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:32168996C>T	ENST00000375023.3	-	22	4175	c.4037G>A	c.(4036-4038)cGg>cAg	p.R1346Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1346			R -> P (in dbSNP:rs8192573).		cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TTCTTCAGCCCGGGCCCCAGG	0.617																																						.											0													58.0	67.0	64.0					6																	32168996		1508	2707	4215	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.4037G>A	6.37:g.32168996C>T	ENSP00000364163:p.Arg1346Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397977	0.25205	.	.	ENSG00000204301	ENST00000375023	T	0.80824	-1.42	4.37	1.09	0.20402	.	0.581966	0.13081	N	0.415340	T	0.35098	0.0920	N	0.03608	-0.345	0.80722	D	1	B;B	0.18741	0.03;0.001	B;B	0.17979	0.02;0.0	T	0.08534	-1.0717	10	0.25106	T	0.35	.	5.443	0.16519	0.0:0.4431:0.0:0.5569	.	1346;1345	Q99466;B0S882	NOTC4_HUMAN;.	Q	1346	ENSP00000364163:R1346Q	ENSP00000364163:R1346Q	R	-	2	0	NOTCH4	32276974	0.999000	0.42202	0.990000	0.47175	0.931000	0.56810	1.224000	0.32539	0.052000	0.16007	0.456000	0.33151	CGG		0.617	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2		
AMD1	262	hgsc.bcm.edu	37	6	111214753	111214753	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:111214753T>C	ENST00000368885.3	+	9	1275	c.939T>C	c.(937-939)gcT>gcC	p.A313A	AMD1_ENST00000368882.3_Silent_p.A165A|AMD1_ENST00000368876.1_Silent_p.A244A|AMD1_ENST00000451850.2_Silent_p.A193A|AMD1_ENST00000368877.5_Silent_p.A284A	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	313					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GCCAGAGTGCTATGTTCAATG	0.368																																						.											0													98.0	89.0	92.0					6																	111214753		2203	4298	6501	SO:0001819	synonymous_variant	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.939T>C	6.37:g.111214753T>C		Somatic		WXS	Illumina HiSeq	Phase_I	E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Silent	SNP	ENST00000368885.3	37	CCDS5086.1																																																																																				0.368	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041816.1		
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	109689044	109689044	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109689044G>A	ENST00000277225.5	+	3	3140	c.2851G>A	c.(2851-2853)Gtg>Atg	p.V951M	ZNF462_ENST00000457913.1_Missense_Mutation_p.V951M|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	951					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCATCCCACGGTGAAGATCAA	0.488																																						.											0													108.0	103.0	105.0					9																	109689044		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2851G>A	9.37:g.109689044G>A	ENSP00000277225:p.Val951Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571617	0.65765	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.08008	3.14;3.55	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.25717	0.0626	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.995	T	0.00102	-1.2062	9	.	.	.	.	19.7468	0.96255	0.0:0.0:1.0:0.0	.	951;951	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	M	951	ENSP00000277225:V951M;ENSP00000414570:V951M	.	V	+	1	0	ZNF462	108728865	1.000000	0.71417	0.627000	0.29227	0.864000	0.49448	9.713000	0.98740	2.731000	0.93534	0.650000	0.86243	GTG		0.488	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
ZNF462	58499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	9	109691641	109691641	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:109691641G>A	ENST00000277225.5	+	3	5737	c.5448G>A	c.(5446-5448)gaG>gaA	p.E1816E	ZNF462_ENST00000457913.1_Silent_p.E1816E|ZNF462_ENST00000441147.2_Silent_p.E661E			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1816					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGAGCATGAGAAGCCCACAC	0.552																																						.											0													90.0	87.0	88.0					9																	109691641		2203	4300	6503	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5448G>A	9.37:g.109691641G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	CCDS35096.1																																																																																				0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224	
SPTLC1	10558	broad.mit.edu;hgsc.bcm.edu	37	9	94808322	94808322	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:94808322C>T	ENST00000262554.2	-	12	1100	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	365					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	TTTCCTTCAACACTGCAAAAA	0.308																																						.											0													79.0	79.0	79.0					9																	94808322		2202	4298	6500	SO:0001819	synonymous_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1095G>A	9.37:g.94808322C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	37	CCDS6692.1																																																																																				0.308	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	NM_006415	
ZFP37	7539	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	115806036	115806036	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:115806036C>A	ENST00000374227.3	-	4	889	c.862G>T	c.(862-864)Gct>Tct	p.A288S	ZFP37_ENST00000555206.1_Missense_Mutation_p.A289S|ZFP37_ENST00000553380.1_Missense_Mutation_p.A303S	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTCACACAAGCTTGAGGTTTT	0.393																																						.											0													214.0	204.0	208.0					9																	115806036		2203	4300	6503	SO:0001583	missense	7539			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.862G>T	9.37:g.115806036C>A	ENSP00000363344:p.Ala288Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	Missense_Mutation	SNP	ENST00000374227.3	37	CCDS6787.1	.	.	.	.	.	.	.	.	.	.	C	8.356	0.832000	0.16820	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05513	3.51;3.43;3.5	4.12	1.06	0.20224	.	1.125650	0.06806	N	0.789524	T	0.03305	0.0096	N	0.03881	-0.34	0.09310	N	1	B;B;B	0.22003	0.063;0.063;0.027	B;B;B	0.21917	0.037;0.037;0.018	T	0.45512	-0.9256	10	0.40728	T	0.16	-0.0391	6.5594	0.22478	0.0:0.5597:0.0:0.4403	.	289;303;288	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	S	288;289;303	ENSP00000363344:A288S;ENSP00000451310:A289S;ENSP00000452552:A303S	ENSP00000363344:A288S	A	-	1	0	ZFP37	114845857	0.000000	0.05858	0.000000	0.03702	0.203000	0.24098	-0.302000	0.08221	0.231000	0.21079	0.655000	0.94253	GCT		0.393	ZFP37-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055439.1	NM_003408	
AK5	26289	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	77759511	77759511	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:77759511G>A	ENST00000354567.2	+	3	544	c.281G>A	c.(280-282)cGg>cAg	p.R94Q	AK5_ENST00000344720.5_Missense_Mutation_p.R68Q|AK5_ENST00000317704.4_Intron	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	94					ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						CCATATCGGCGGTATGACCGG	0.398																																						.											0													66.0	69.0	68.0					1																	77759511		2203	4300	6503	SO:0001583	missense	26289			AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.281G>A	1.37:g.77759511G>A	ENSP00000346577:p.Arg94Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	CCDS675.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125882	0.94429	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478407	T;T;D	0.84730	-0.57;-0.67;-1.89	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.77665	0.4164	L	0.29908	0.895	0.80722	D	1	D	0.63046	0.992	P	0.45794	0.493	T	0.81369	-0.0964	10	0.62326	D	0.03	-0.0067	19.2875	0.94084	0.0:0.0:1.0:0.0	.	94	Q9Y6K8	KAD5_HUMAN	Q	94;68;68	ENSP00000346577:R94Q;ENSP00000341430:R68Q;ENSP00000434409:R68Q	ENSP00000341430:R68Q	R	+	2	0	AK5	77532099	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.534000	0.82004	2.645000	0.89757	0.561000	0.74099	CGG		0.398	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
HNRNPU	3192	broad.mit.edu	37	1	245021520	245021520	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:245021520G>A	ENST00000283179.9	-	7	1450	c.1287C>T	c.(1285-1287)ggC>ggT	p.G429G	HNRNPU-AS1_ENST00000475997.1_RNA|HNRNPU_ENST00000444376.2_Silent_p.G410G			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	429	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.N405_K417delNGQDLGVAFKISK(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TGAAGGCAACGCCAAGATCTT	0.403																																					NSCLC(33;911 1010 3329 23631 49995)	.											1	Deletion - In frame(1)	NS(1)											69.0	62.0	65.0					1																	245021520		2203	4300	6503	SO:0001819	synonymous_variant	3192			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.1287C>T	1.37:g.245021520G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	ENST00000283179.9	37	CCDS41479.1																																																																																				0.403	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097163.3	NM_031844	
SPAG6	9576	broad.mit.edu	37	10	22675803	22675803	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:22675803C>T	ENST00000376624.3	+	5	735	c.593C>T	c.(592-594)tCt>tTt	p.S198F	RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.S173F|SPAG6_ENST00000313311.6_Missense_Mutation_p.S198F|SPAG6_ENST00000376603.2_Missense_Mutation_p.S274F|SPAG6_ENST00000376601.1_Intron	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	198					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						GCAAAGCATTCTCCAGAGTTA	0.443																																						.											0													115.0	109.0	111.0					10																	22675803		2203	4300	6503	SO:0001583	missense	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.593C>T	10.37:g.22675803C>T	ENSP00000365811:p.Ser198Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196679	0.38806	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000538630;ENST00000313311	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.6	2.7	0.31948	Armadillo-like helical (1);Armadillo-type fold (1);	0.201653	0.53938	N	0.000046	T	0.75273	0.3827	M	0.69358	2.11	0.58432	D	0.999999	B;P;P;P	0.46952	0.391;0.887;0.732;0.573	P;P;P;P	0.54401	0.751;0.673;0.635;0.751	T	0.75668	-0.3238	10	0.87932	D	0	-18.4621	8.521	0.33275	0.0:0.7218:0.1379:0.1403	.	173;274;198;198	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	F	198;274;173;198	ENSP00000365811:S198F;ENSP00000365788:S274F;ENSP00000441325:S173F;ENSP00000323599:S198F	ENSP00000323599:S198F	S	+	2	0	SPAG6	22715809	1.000000	0.71417	1.000000	0.80357	0.092000	0.18411	4.029000	0.57253	0.818000	0.34468	-0.253000	0.11424	TCT		0.443	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1		
SORCS3	22986	broad.mit.edu;mdanderson.org	37	10	106970992	106970992	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr10:106970992T>C	ENST00000369701.3	+	17	2586	c.2359T>C	c.(2359-2361)Tac>Cac	p.Y787H	SORCS3_ENST00000369699.4_Missense_Mutation_p.Y73H	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	787					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TGGTCAAAGCTACCTTAACAG	0.468																																					NSCLC(116;1497 1690 7108 13108 14106)	.											0													104.0	84.0	91.0					10																	106970992		2203	4300	6503	SO:0001583	missense	22986			AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2359T>C	10.37:g.106970992T>C	ENSP00000358715:p.Tyr787His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	T	18.41	3.617745	0.66787	.	.	ENSG00000156395	ENST00000369701;ENST00000393176;ENST00000369699	T;T;T	0.52057	1.94;0.68;1.09	5.93	5.93	0.95920	VPS10 (1);	0.131761	0.53938	D	0.000059	T	0.72953	0.3525	M	0.86953	2.85	0.58432	D	0.999993	D	0.76494	0.999	D	0.72982	0.979	T	0.77242	-0.2660	9	.	.	.	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	787	Q9UPU3	SORC3_HUMAN	H	787;148;73	ENSP00000358715:Y787H;ENSP00000376876:Y148H;ENSP00000358713:Y73H	.	Y	+	1	0	SORCS3	106960982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.698000	0.84413	2.281000	0.76405	0.533000	0.62120	TAC		0.468	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
FOLH1	2346	broad.mit.edu;mdanderson.org	37	11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:49175930G>A	ENST00000256999.2	-	16	1998	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_ENST00000533034.1_Nonsense_Mutation_p.R565*|FOLH1_ENST00000343844.4_Nonsense_Mutation_p.R272*|FOLH1_ENST00000356696.3_Nonsense_Mutation_p.R580*|FOLH1_ENST00000340334.7_Nonsense_Mutation_p.R565*	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	580	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	ATCCCTCCTCGAACCTGGGCC	0.413																																						.											0													76.0	64.0	68.0					11																	49175930		2200	4278	6478	SO:0001587	stop_gained	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1738C>T	11.37:g.49175930G>A	ENSP00000256999:p.Arg580*	Somatic		WXS	Illumina HiSeq	Phase_I	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Nonsense_Mutation	SNP	ENST00000256999.2	37	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	G	39	7.351063	0.98228	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000343844;ENST00000533034	.	.	.	3.62	3.62	0.41486	.	0.000000	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.124	0.59342	0.0:0.0:1.0:0.0	.	.	.	.	X	580;580;565;272;565	.	ENSP00000256999:R580X	R	-	1	2	FOLH1	49132506	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.373000	0.66162	2.044000	0.60594	0.404000	0.27445	CGA		0.413	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476	
NT5DC3	51559	broad.mit.edu	37	12	104171822	104171822	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:104171822T>C	ENST00000392876.3	-	14	1472	c.1432A>G	c.(1432-1434)Agc>Ggc	p.S478G		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	478						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CGGAACAGGCTTCCAAACTGG	0.453																																						.											0													81.0	82.0	82.0					12																	104171822		2203	4300	6503	SO:0001583	missense	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1432A>G	12.37:g.104171822T>C	ENSP00000376615:p.Ser478Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NUM7|Q9P2T2|Q9P2T3	Missense_Mutation	SNP	ENST00000392876.3	37	CCDS41824.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600902	0.66332	.	.	ENSG00000111696	ENST00000392876	T	0.25749	1.78	5.8	5.8	0.92144	HAD-like domain (1);	0.000000	0.85682	D	0.000000	T	0.62804	0.2458	M	0.93808	3.46	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73783	-0.3874	10	0.87932	D	0	-36.2887	16.1549	0.81657	0.0:0.0:0.0:1.0	.	478	Q86UY8	NT5D3_HUMAN	G	478	ENSP00000376615:S478G	ENSP00000376615:S478G	S	-	1	0	NT5DC3	102695952	1.000000	0.71417	0.982000	0.44146	0.008000	0.06430	5.939000	0.70179	2.209000	0.71365	0.533000	0.62120	AGC		0.453	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2	NM_016575	
EBPL	84650	broad.mit.edu	37	13	50235138	50235138	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235138T>G	ENST00000242827.6	-	4	637	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	196					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.Q196P(2)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GGTTTCTTTCTGATGCATTTT	0.383																																					NSCLC(39;857 1083 36109 42364 51411)	.											2	Substitution - Missense(2)	endometrium(2)											73.0	73.0	73.0					13																	50235138		2203	4300	6503	SO:0001583	missense	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.587A>C	13.37:g.50235138T>G	ENSP00000242827:p.Gln196Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.722268	0.48728	.	.	ENSG00000123179	ENST00000242827	D	0.97994	-4.65	5.61	-2.45	0.06481	.	1.466260	0.03646	N	0.240220	D	0.94876	0.8344	L	0.47716	1.5	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	D	0.86530	0.1821	10	0.30078	T	0.28	-0.1548	6.1064	0.20075	0.3657:0.0:0.2518:0.3825	.	196	Q9BY08	EBPL_HUMAN	P	196	ENSP00000242827:Q196P	ENSP00000242827:Q196P	Q	-	2	0	EBPL	49133139	0.002000	0.14202	0.003000	0.11579	0.996000	0.88848	-0.059000	0.11731	-0.151000	0.11176	0.528000	0.53228	CAG		0.383	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565	
EBPL	84650	broad.mit.edu	37	13	50235160	50235160	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr13:50235160G>C	ENST00000242827.6	-	4	615	c.565C>G	c.(565-567)Cta>Gta	p.L189V	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378270.5_3'UTR|EBPL_ENST00000378272.5_3'UTR|EBPL_ENST00000378284.2_3'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	189					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGAGTTCTAGCCATGACTGC	0.418																																					NSCLC(39;857 1083 36109 42364 51411)	.											9	Substitution - Missense(9)	endometrium(6)|kidney(3)											67.0	67.0	67.0					13																	50235160		2203	4300	6503	SO:0001583	missense	84650			AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.565C>G	13.37:g.50235160G>C	ENSP00000242827:p.Leu189Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	3.076	-0.189988	0.06299	.	.	ENSG00000123179	ENST00000242827	D	0.97850	-4.57	5.61	2.84	0.33178	.	0.689671	0.14945	N	0.289287	D	0.88179	0.6367	N	0.00621	-1.32	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.79482	-0.1785	10	0.25751	T	0.34	-0.2032	8.3049	0.32036	0.0:0.4998:0.3595:0.1406	.	189	Q9BY08	EBPL_HUMAN	V	189	ENSP00000242827:L189V	ENSP00000242827:L189V	L	-	1	2	EBPL	49133161	0.000000	0.05858	0.303000	0.25071	0.899000	0.52679	-1.071000	0.03437	0.397000	0.25310	-0.127000	0.14921	CTA		0.418	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565	
COCH	1690	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	31355089	31355089	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:31355089C>G	ENST00000396618.3	+	11	1104	c.1048C>G	c.(1048-1050)Ctg>Gtg	p.L350V	RP11-829H16.3_ENST00000468444.2_RNA|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.L238V|COCH_ENST00000216361.4_Missense_Mutation_p.L350V|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000382493.4_Missense_Mutation_p.L201V|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.L350V	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	350					defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGTACAGAAGCTGTGCACTCA	0.448																																						.											0													107.0	93.0	98.0					14																	31355089		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1048C>G	14.37:g.31355089C>G	ENSP00000379862:p.Leu350Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.44|14.44	2.536705|2.536705	0.45176|0.45176	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493|ENST00000542225;ENST00000468826	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	5.92|5.92	5.92|5.92	0.95590|0.95590	von Willebrand factor, type A (1);|.	0.059077|.	0.64402|.	D|.	0.000003|.	T|T	0.47691|0.47691	0.1459|0.1459	N|N	0.17800|0.17800	0.525|0.525	0.46823|0.46823	D|D	0.999214|0.999214	D;P;P|.	0.76494|.	0.999;0.816;0.633|.	D;B;B|.	0.77557|.	0.99;0.152;0.108|.	T|T	0.51004|0.51004	-0.8760|-0.8760	10|6	0.02654|0.87932	T|D	1|0	-14.207|-14.207	11.6235|11.6235	0.51132|0.51132	0.0:0.8631:0.0:0.1369|0.0:0.8631:0.0:0.1369	.|.	201;350;350|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	V|R	350;350;350;238;201|237;233	ENSP00000216361:L350V;ENSP00000379862:L350V;ENSP00000451528:L350V;ENSP00000451713:L238V;ENSP00000371933:L201V|.	ENSP00000216361:L350V|ENSP00000440215:S237R	L|S	+|+	1|3	2|2	COCH|COCH	30424840|30424840	0.465000|0.465000	0.25815|0.25815	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.829000|0.829000	0.27449|0.27449	2.794000|2.794000	0.96219|0.96219	0.650000|0.650000	0.86243|0.86243	CTG|AGC		0.448	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	
PYGL	5836	broad.mit.edu;mdanderson.org	37	14	51375670	51375670	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:51375670G>A	ENST00000216392.7	-	18	2513	c.2181C>T	c.(2179-2181)taC>taT	p.Y727Y	PYGL_ENST00000532462.1_Silent_p.Y727Y|PYGL_ENST00000544180.2_Silent_p.Y693Y	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	727					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CTTTTGCCTCGTACCTGTGGG	0.433																																						.											0													72.0	73.0	73.0					14																	51375670		2203	4300	6503	SO:0001819	synonymous_variant	5836				CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2181C>T	14.37:g.51375670G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Silent	SNP	ENST00000216392.7	37	CCDS32080.1																																																																																				0.433	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863	
PLD4	122618	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	14	105394159	105394159	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr14:105394159G>T	ENST00000392593.4	+	3	408	c.240G>T	c.(238-240)tgG>tgT	p.W80C	PLD4_ENST00000540372.1_Missense_Mutation_p.W87C	NM_138790.2	NP_620145.2	Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	80					glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phagocytosis (GO:0006909)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase D activity (GO:0004630)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)			GCCCAGCTTGGGAGCCCCTGG	0.672																																						.											0													12.0	16.0	15.0					14																	105394159		1990	4160	6150	SO:0001583	missense	122618				CCDS9995.2	14q32.33	2014-01-28	2005-05-20	2005-05-20	ENSG00000166428	ENSG00000166428			23792	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 175"""	C14orf175			Standard	XM_006720024		Approved		uc001ypu.1	Q96BZ4	OTTHUMG00000144167	ENST00000392593.4:c.240G>T	14.37:g.105394159G>T	ENSP00000376372:p.Trp80Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UWD2	Missense_Mutation	SNP	ENST00000392593.4	37	CCDS9995.2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.462284	0.26248	.	.	ENSG00000166428	ENST00000540372;ENST00000392593;ENST00000557573	T;T;T	0.25414	1.86;1.88;1.8	1.41	1.41	0.22369	.	.	.	.	.	T	0.19046	0.0457	N	0.14661	0.345	0.18873	N	0.999985	P;P	0.50819	0.939;0.898	P;B	0.50136	0.632;0.428	T	0.09509	-1.0671	9	0.45353	T	0.12	-8.6828	6.2642	0.20917	0.0:0.0:1.0:0.0	.	87;80	F5H2B5;Q96BZ4	.;PLD4_HUMAN	C	87;80;78	ENSP00000438677:W87C;ENSP00000376372:W80C;ENSP00000451278:W78C	ENSP00000376372:W80C	W	+	3	0	PLD4	104465204	0.007000	0.16637	0.004000	0.12327	0.003000	0.03518	0.760000	0.26475	1.107000	0.41642	0.205000	0.17691	TGG		0.672	PLD4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000291348.2	NM_138790	
CHD2	1106	broad.mit.edu	37	15	93480819	93480819	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:93480819delA	ENST00000394196.4	+	6	1583	c.515delA	c.(514-516)caafs	p.Q172fs	CHD2_ENST00000420239.2_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000557381.1_Frame_Shift_Del_p.Q172fs|CHD2_ENST00000536619.1_Frame_Shift_Del_p.Q185fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	172					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GAGCCAGAACAAAAAAAAGTA	0.418																																						.											0													108.0	105.0	106.0					15																	93480819		2197	4298	6495	SO:0001589	frameshift_variant	1106			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.515delA	15.37:g.93480819delA	ENSP00000377747:p.Gln172fs	Somatic		WXS	Illumina HiSeq	Phase_I	C6G482|Q96IP5	Frame_Shift_Del	DEL	ENST00000394196.4	37	CCDS10374.2																																																																																				0.418	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
RPGRIP1L	23322	broad.mit.edu;mdanderson.org	37	16	53644927	53644927	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr16:53644927C>G	ENST00000379925.3	-	25	3703	c.3653G>C	c.(3652-3654)aGa>aCa	p.R1218T	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R1184T|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.R1138T|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R1172T	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	1218					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TAAGATGTCTCTCTTTGCTTT	0.333																																						.											0													233.0	205.0	215.0					16																	53644927		2198	4300	6498	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.3653G>C	16.37:g.53644927C>G	ENSP00000369257:p.Arg1218Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998717	0.74818	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	T;D	0.84146	-1.45;-1.81	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.92420	0.7594	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.994	D	0.92975	0.6401	10	0.87932	D	0	-16.644	19.2677	0.93996	0.0:1.0:0.0:0.0	.	1172;1172;1218;1138	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	T	1218;1138	ENSP00000369257:R1218T;ENSP00000262135:R1138T	ENSP00000262135:R1138T	R	-	2	0	RPGRIP1L	52202428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.264000	0.58859	2.617000	0.88574	0.655000	0.94253	AGA		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1	NM_015272	
SGSH	6448	broad.mit.edu	37	17	78190941	78190941	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:78190941T>G	ENST00000326317.6	-	2	225	c.139A>C	c.(139-141)Acc>Ccc	p.T47P	SGSH_ENST00000572208.1_5'UTR|SGSH_ENST00000570923.1_Silent_p.P58P|SGSH_ENST00000534910.1_5'UTR	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	47					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			AGGTGCGGGGTGGCGATGGCG	0.662																																						.											0													44.0	48.0	47.0					17																	78190941		2198	4293	6491	SO:0001583	missense	6448			BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.139A>C	17.37:g.78190941T>G	ENSP00000314606:p.Thr47Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559069	0.86335	.	.	ENSG00000181523	ENST00000326317	D	0.98362	-4.89	4.42	4.42	0.53409	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.115205	0.64402	D	0.000020	D	0.99137	0.9702	M	0.93241	3.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.99301	1.0901	10	0.87932	D	0	-30.697	13.6498	0.62304	0.0:0.0:0.0:1.0	.	47;50	P51688;Q59EB1	SPHM_HUMAN;.	P	47	ENSP00000314606:T47P	ENSP00000314606:T47P	T	-	1	0	SGSH	75805536	1.000000	0.71417	0.604000	0.28916	0.979000	0.70002	7.404000	0.79996	1.609000	0.50190	0.528000	0.53228	ACC		0.662	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199	
CEP192	55125	broad.mit.edu	37	18	13049583	13049583	+	Silent	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr18:13049583A>G	ENST00000325971.8	+	14	2598	c.1005A>G	c.(1003-1005)agA>agG	p.R335R	CEP192_ENST00000430049.2_Silent_p.R456R|CEP192_ENST00000506447.1_Silent_p.R931R			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	335					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGATAACAGAGAAAATCAGA	0.383																																						.											0													112.0	116.0	115.0					18																	13049583		2202	4298	6500	SO:0001819	synonymous_variant	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.1005A>G	18.37:g.13049583A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37																																																																																					0.383	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
CYP2A7	1549	broad.mit.edu;mdanderson.org	37	19	41384783	41384783	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41384783A>T	ENST00000301146.4	-	5	1254	c.713T>A	c.(712-714)tTt>tAt	p.F238Y	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.F187Y	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	238						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAGCAACTTAAAGGCCTGTTG	0.542																																						.											0													106.0	85.0	92.0					19																	41384783		2203	4298	6501	SO:0001583	missense	1549			NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.713T>A	19.37:g.41384783A>T	ENSP00000301146:p.Phe238Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	A	3.487	-0.104571	0.06967	.	.	ENSG00000198077	ENST00000301146;ENST00000291764	T;T	0.68903	-0.36;-0.36	2.18	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.54822	0.1882	L	0.43757	1.38	0.09310	N	1	B;B;B	0.18863	0.004;0.002;0.031	B;B;B	0.33042	0.018;0.008;0.157	T	0.43081	-0.9413	10	0.25106	T	0.35	.	5.7992	0.18403	0.5777:0.0:0.0:0.4223	.	238;187;238	B7ZKR0;F8W816;P20853	.;.;CP2A7_HUMAN	Y	238;187	ENSP00000301146:F238Y;ENSP00000291764:F187Y	ENSP00000291764:F187Y	F	-	2	0	CYP2A7	46076623	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	0.133000	0.15912	0.072000	0.16694	0.155000	0.16302	TTT		0.542	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589	
PXK	54899	broad.mit.edu	37	3	58395318	58395318	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:58395318delA	ENST00000356151.2	+	15	1477	c.1368delA	c.(1366-1368)agafs	p.R456fs	PXK_ENST00000536660.1_Frame_Shift_Del_p.R319fs|PXK_ENST00000484288.1_Frame_Shift_Del_p.R456fs|PXK_ENST00000383715.4_Frame_Shift_Del_p.R439fs|PXK_ENST00000463280.1_Frame_Shift_Del_p.R423fs|PXK_ENST00000383716.3_Frame_Shift_Del_p.R423fs|PXK_ENST00000302779.5_Frame_Shift_Del_p.R439fs|PXK_ENST00000479241.1_Frame_Shift_Del_p.R439fs	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		AGGAGGAAAGAAAAAAAAGAA	0.418																																						.											0													50.0	50.0	50.0					3																	58395318		2202	4300	6502	SO:0001589	frameshift_variant	54899			AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1368delA	3.37:g.58395318delA	ENSP00000348472:p.Arg456fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000356151.2	37	CCDS2889.1																																																																																				0.418	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	
ANAPC4	29945	broad.mit.edu;mdanderson.org	37	4	25415322	25415322	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:25415322G>A	ENST00000315368.3	+	22	1723	c.1581G>A	c.(1579-1581)agG>agA	p.R527R	ANAPC4_ENST00000510092.1_Silent_p.R528R	NM_013367.2	NP_037499.2	Q9UJX5	APC4_HUMAN	anaphase promoting complex subunit 4	527					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTGTGAAAAGGCGGATGGAGA	0.353																																						.											0													118.0	116.0	117.0					4																	25415322		2203	4300	6503	SO:0001819	synonymous_variant	29945			AF191338	CCDS3434.1, CCDS68684.1	4p15.31	2011-06-15			ENSG00000053900	ENSG00000053900		"""Anaphase promoting complex subunits"""	19990	protein-coding gene	gene with protein product		606947				6180011	Standard	NM_013367		Approved	APC4	uc003gro.3	Q9UJX5	OTTHUMG00000097753	ENST00000315368.3:c.1581G>A	4.37:g.25415322G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8H1|E9PCR4|Q6PCC6|Q9NSH6	Silent	SNP	ENST00000315368.3	37	CCDS3434.1																																																																																				0.353	ANAPC4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214986.1	NM_013367	
DSPP	1834	broad.mit.edu	37	4	88536147	88536155	+	In_Frame_Del	DEL	ACAGCAGCA	ACAGCAGCA	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	ACAGCAGCA	ACAGCAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:88536147_88536155delACAGCAGCA	ENST00000282478.7	+	4	2366_2374	c.2333_2341delACAGCAGCA	c.(2332-2343)gacagcagcaac>gac	p.SSN779del	DSPP_ENST00000399271.1_In_Frame_Del_p.SSN779del|RP11-742B18.1_ENST00000506480.1_RNA			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	779	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gatagtagtgacagcagcaacagcagtga	0.502																																						.											0																																										SO:0001651	inframe_deletion	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.2333_2341delACAGCAGCA	4.37:g.88536147_88536155delACAGCAGCA	ENSP00000282478:p.Ser779_Asn781del	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUI0|O95815	In_Frame_Del	DEL	ENST00000282478.7	37	CCDS43248.1																																																																																				0.502	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363616.3	NM_014208	
ADH1B	125	broad.mit.edu;mdanderson.org	37	4	100234996	100234996	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:100234996G>A	ENST00000305046.8	-	6	877	c.810C>T	c.(808-810)atC>atT	p.I270I	ADH1B_ENST00000394887.3_Silent_p.I230I			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	270					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CAAGCCGACCGATGACTTCAA	0.438																																						.											0													210.0	211.0	210.0					4																	100234996		2203	4300	6503	SO:0001819	synonymous_variant	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.810C>T	4.37:g.100234996G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Silent	SNP	ENST00000305046.8	37	CCDS34033.1																																																																																				0.438	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
TDRD6	221400	broad.mit.edu	37	6	46661608	46661608	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:46661608C>T	ENST00000316081.6	+	1	5743	c.5743C>T	c.(5743-5745)Cct>Tct	p.P1915S	TDRD6_ENST00000544460.1_Missense_Mutation_p.P1915S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1915					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCCAGCTGCCTTTAGATGA	0.458																																						.											0													103.0	100.0	101.0					6																	46661608		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.5743C>T	6.37:g.46661608C>T	ENSP00000346065:p.Pro1915Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.052	-1.246071	0.01481	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11169	2.8;2.8	5.57	3.23	0.37069	.	0.486738	0.19330	N	0.116913	T	0.01189	0.0039	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.06405	0.002;0.001	T	0.47649	-0.9101	10	0.07325	T	0.83	-16.1441	7.0121	0.24867	0.0:0.1857:0.0:0.8143	.	1915;1915	F5H5M3;O60522	.;TDRD6_HUMAN	S	1915	ENSP00000443299:P1915S;ENSP00000346065:P1915S	ENSP00000346065:P1915S	P	+	1	0	TDRD6	46769567	0.000000	0.05858	0.028000	0.17463	0.007000	0.05969	0.378000	0.20569	0.947000	0.37659	-0.471000	0.05019	CCT		0.458	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
ABCB5	340273	broad.mit.edu;bcgsc.ca	37	7	20698214	20698214	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:20698214G>A	ENST00000404938.2	+	14	2274	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R96Q|ABCB5_ENST00000406935.1_Missense_Mutation_p.R96Q|ABCB5_ENST00000443026.2_Missense_Mutation_p.R96Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	541	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCCTTAGTTCGAAACCCCAAG	0.438																																						.											0													129.0	112.0	118.0					7																	20698214		2203	4300	6503	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1622G>A	7.37:g.20698214G>A	ENSP00000384881:p.Arg541Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774322	0.90108	.	.	ENSG00000004846	ENST00000404938;ENST00000443026;ENST00000406935;ENST00000258738	D;D;D;D	0.93763	-1.87;-3.28;-3.28;-1.87	5.77	4.67	0.58626	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.142496	0.30510	N	0.009471	D	0.95655	0.8587	M	0.68728	2.09	0.37951	D	0.932664	D;D;D;D	0.89917	0.996;1.0;0.998;1.0	P;D;D;D	0.91635	0.784;0.999;0.991;0.977	D	0.96024	0.9011	10	0.87932	D	0	.	12.5046	0.55973	0.1116:0.0:0.8884:0.0	.	96;541;96;96	B5MD19;A7BKA4;Q2M3G0;Q2M3G0-2	.;.;ABCB5_HUMAN;.	Q	541;96;96;96	ENSP00000384881:R541Q;ENSP00000406730:R96Q;ENSP00000383899:R96Q;ENSP00000258738:R96Q	ENSP00000258738:R96Q	R	+	2	0	ABCB5	20664739	0.995000	0.38212	1.000000	0.80357	0.975000	0.68041	3.264000	0.51553	2.890000	0.99128	0.650000	0.86243	CGA		0.438	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
PSD3	23362	broad.mit.edu	37	8	18725567	18725567	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:18725567T>C	ENST00000327040.8	-	4	1353	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q	PSD3_ENST00000440756.2_Silent_p.Q417Q|PSD3_ENST00000523619.1_Silent_p.Q352Q	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	417					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CGTGCTCCTCTTGTTCGCTGA	0.423																																						.											0													96.0	97.0	97.0					8																	18725567		1983	4154	6137	SO:0001819	synonymous_variant	23362			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1251A>G	8.37:g.18725567T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	CCDS43720.1																																																																																				0.423	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310	
FBXO16	157574	broad.mit.edu	37	8	28309794	28309794	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:28309794T>C	ENST00000380254.2	-	6	855	c.707A>G	c.(706-708)gAc>gGc	p.D236G	FBXO16_ENST00000346498.2_Missense_Mutation_p.D224G|RP11-181B11.2_ENST00000518819.1_RNA|RP11-181B11.2_ENST00000523935.1_RNA|FBXO16_ENST00000518734.1_Missense_Mutation_p.D224G|FBXO16_ENST00000517436.1_5'UTR	NM_001258211.1|NM_172366.3	NP_001245140.1|NP_758954.1	Q8IX29	FBX16_HUMAN	F-box protein 16	236										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		GTCACGGTTGTCTAGGTAATT	0.413																																						.											0													92.0	91.0	91.0					8																	28309794		2203	4300	6503	SO:0001583	missense	157574			AF453435	CCDS6068.1, CCDS59099.1	8p21.1	2008-02-05	2004-06-15		ENSG00000214050	ENSG00000214050		"""F-boxes /  ""other"""""	13618	protein-coding gene	gene with protein product		608519	"""F-box only protein 16"""			12243353	Standard	NM_172366		Approved	FBX16	uc003xgu.4	Q8IX29	OTTHUMG00000102147	ENST00000380254.2:c.707A>G	8.37:g.28309794T>C	ENSP00000369604:p.Asp236Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q3T1B2|Q3T1B3|Q3T1B4	Missense_Mutation	SNP	ENST00000380254.2	37	CCDS6068.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.2|24.2	4.510595|4.510595	0.85389|0.85389	.|.	.|.	ENSG00000214050|ENSG00000214050	ENST00000380254;ENST00000346498;ENST00000518734;ENST00000517673|ENST00000518248	T;T;T;T|.	0.59502|.	1.75;1.64;1.72;0.26|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.336197|.	0.25478|.	U|.	0.030394|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.995;0.999;0.998|.	P;P;P|.	0.57468|.	0.728;0.821;0.821|.	T|T	0.73313|0.73313	-0.4022|-0.4022	10|5	0.72032|.	D|.	0.01|.	-32.5255|-32.5255	14.4817|14.4817	0.67587|0.67587	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	224;224;236|.	Q3T1B3;Q3T1B2;Q8IX29|.	.;.;FBX16_HUMAN|.	G|A	236;224;224;181|81	ENSP00000369604:D236G;ENSP00000341416:D224G;ENSP00000429687:D224G;ENSP00000429390:D181G|.	ENSP00000341416:D224G|.	D|T	-|-	2|1	0|0	FBXO16|FBXO16	28365713|28365713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.801000|0.801000	0.45260|0.45260	6.794000|6.794000	0.75135|0.75135	2.098000|2.098000	0.63641|0.63641	0.443000|0.443000	0.29094|0.29094	GAC|ACA		0.413	FBXO16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219988.2	NM_172366	
UHRF2	115426	broad.mit.edu	37	9	6460652	6460652	+	Silent	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:6460652C>T	ENST00000276893.5	+	4	892	c.724C>T	c.(724-726)Cta>Tta	p.L242L		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	242	Interaction with PCNP.|Required for interaction with histone H3. {ECO:0000250}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGGAATGAACTAAATGTTGG	0.378																																						.											0													117.0	118.0	118.0					9																	6460652		2203	4300	6503	SO:0001819	synonymous_variant	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.724C>T	9.37:g.6460652C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Silent	SNP	ENST00000276893.5	37	CCDS6469.1																																																																																				0.378	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051665.3	NM_152306	
ANXA1	301	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000491192.1_3'UTR|ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation (GO:0046632)|arachidonic acid secretion (GO:0050482)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hydrogen peroxide (GO:0070301)|endocrine pancreas development (GO:0031018)|estrous cycle phase (GO:0060206)|gliogenesis (GO:0042063)|hepatocyte differentiation (GO:0070365)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|keratinocyte differentiation (GO:0030216)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|neutrophil clearance (GO:0097350)|neutrophil homeostasis (GO:0001780)|peptide cross-linking (GO:0018149)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of neutrophil apoptotic process (GO:0033031)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of vesicle fusion (GO:0031340)|regulation of cell proliferation (GO:0042127)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to interleukin-1 (GO:0070555)|response to peptide hormone (GO:0043434)|response to X-ray (GO:0010165)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cilium (GO:0005929)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)|phospholipid binding (GO:0005543)|protein binding, bridging (GO:0030674)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Amcinonide(DB00288)|Dexamethasone(DB01234)|Hydrocortisone(DB00741)	TATGGTTTCCCGTTCTGAAAT	0.388																																						.											1	Substitution - Missense(1)	lung(1)											230.0	210.0	217.0					9																	75783993		2203	4300	6503	SO:0001583	missense	301			X05908	CCDS6645.1	9q21.13	2013-02-25			ENSG00000135046	ENSG00000135046		"""Annexins"", ""Endogenous ligands"""	533	protein-coding gene	gene with protein product		151690		ANX1, LPC1		2936963	Standard	NM_000700		Approved		uc004ajf.1	P04083	OTTHUMG00000020016	ENST00000376911.1:c.907C>T	9.37:g.75783993C>T	ENSP00000366109:p.Arg303Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000376911.1	37	CCDS6645.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.744472	0.89663	.	.	ENSG00000135046	ENST00000257497;ENST00000376911	T;T	0.12879	2.64;2.64	5.97	5.08	0.68730	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61657	-0.7018	10	0.87932	D	0	.	14.9487	0.71054	0.0:0.9321:0.0:0.0679	.	303	P04083	ANXA1_HUMAN	C	303	ENSP00000257497:R303C;ENSP00000366109:R303C	ENSP00000257497:R303C	R	+	1	0	ANXA1	74973813	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.929000	0.75852	1.540000	0.49301	0.655000	0.94253	CGT		0.388	ANXA1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052665.1	NM_000700	
CLDN23	137075	broad.mit.edu	37	8	8560233	8560234	+	Frame_Shift_Ins	INS	-	-	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:8560233_8560234insT	ENST00000519106.1	+	1	786_787	c.325_326insT	c.(325-327)cccfs	p.P109fs		NM_194284.2	NP_919260.2	Q96B33	CLD23_HUMAN	claudin 23	109					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		GCAGGACGAGCCCAACTTCGTG	0.703																																						.											0																																										SO:0001589	frameshift_variant	137075			AK123547	CCDS55195.1	8p23.1	2006-04-12				ENSG00000253958		"""Claudins"""	17591	protein-coding gene	gene with protein product		609203				12736707	Standard	NM_194284		Approved	CLDNL	uc003wsi.3	Q96B33		Exception_encountered	8.37:g.8560233_8560234insT	ENSP00000428780:p.Pro109fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AJ3	Frame_Shift_Ins	INS	ENST00000519106.1	37	CCDS55195.1																																																																																				0.703	CLDN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374721.1	NM_194284	
ACAP3	116983	ucsc.edu;bcgsc.ca	37	1	1229272	1229272	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:1229272G>A	ENST00000354700.5	-	23	2493	c.2291C>T	c.(2290-2292)gCc>gTc	p.A764V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A689V|ACAP3_ENST00000379037.2_5'Flank	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	764					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						TTGGTCCAGGGCGTGCTGGTC	0.741																																						.											0													19.0	19.0	19.0					1																	1229272		2095	4151	6246	SO:0001583	missense	116983			AF411981	CCDS19.2	1p36	2013-01-10	2008-09-22	2008-09-22	ENSG00000131584	ENSG00000131584		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16754	protein-coding gene	gene with protein product			"""centaurin, beta 5"""	CENTB5			Standard	NM_030649		Approved	KIAA1716	uc001aeb.2	Q96P50	OTTHUMG00000002235	ENST00000354700.5:c.2291C>T	1.37:g.1229272G>A	ENSP00000346733:p.Ala764Val	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7	Missense_Mutation	SNP	ENST00000354700.5	37	CCDS19.2	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064997	0.36470	.	.	ENSG00000131584	ENST00000354700;ENST00000353662	T;T	0.35048	1.33;1.33	4.28	4.28	0.50868	Ankyrin repeat-containing domain (4);	0.202694	0.41712	D	0.000832	T	0.27697	0.0681	L	0.47078	1.49	0.38407	D	0.945824	P;B	0.47484	0.896;0.138	B;B	0.37601	0.254;0.026	T	0.17440	-1.0369	10	0.09590	T	0.72	.	15.7782	0.78240	0.0:0.0:1.0:0.0	.	764;689	Q96P50;Q96P50-1	ACAP3_HUMAN;.	V	764;689	ENSP00000346733:A764V;ENSP00000321139:A689V	ENSP00000321139:A689V	A	-	2	0	ACAP3	1219135	1.000000	0.71417	0.991000	0.47740	0.919000	0.55068	4.242000	0.58714	2.370000	0.80446	0.549000	0.68633	GCC		0.741	ACAP3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006366.2	NM_030649	
CC2D1B	200014	ucsc.edu	37	1	52825206	52825206	+	Splice_Site	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:52825206T>C	ENST00000371586.2	-	9	1081	c.943A>G	c.(943-945)Aga>Gga	p.R315G	CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Splice_Site_p.R315G	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	315						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCACCGAATCTCTGCAGAAGT	0.582																																						.											0													34.0	38.0	36.0					1																	52825206		2203	4300	6503	SO:0001630	splice_region_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.943-1A>G	1.37:g.52825206T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	.	.	.	.	.	.	.	.	.	.	T	10.23	1.292788	0.23564	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573	T;T	0.27557	1.66;1.66	4.84	3.7	0.42460	Domain of unknown function DM14 (1);	0.563629	0.19178	N	0.120751	T	0.14227	0.0344	N	0.05124	-0.11	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.04013	0.001;0.001	T	0.07233	-1.0783	10	0.15066	T	0.55	-4.0055	10.9531	0.47341	0.0:0.0:0.1573:0.8427	.	101;315	Q5T0G1;Q5T0F9	.;C2D1B_HUMAN	G	315;315;229	ENSP00000360642:R315G;ENSP00000284376:R315G	ENSP00000284376:R315G	R	-	1	2	CC2D1B	52597794	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	2.944000	0.49034	0.857000	0.35407	0.529000	0.55759	AGA		0.582	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	Missense_Mutation
EPPK1	83481	ucsc.edu;bcgsc.ca	37	8	144944498	144944498	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:144944498T>C	ENST00000525985.1	-	2	2995	c.2924A>G	c.(2923-2925)gAc>gGc	p.D975G				P58107	EPIPL_HUMAN	epiplakin 1	975						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTGTGAGGGTCCATGATGGT	0.692																																						.											0													7.0	9.0	8.0					8																	144944498		1939	4118	6057	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.2924A>G	8.37:g.144944498T>C	ENSP00000436337:p.Asp975Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	T	15.97	2.989058	0.53934	.	.	ENSG00000227184	ENST00000525985	D	0.83837	-1.77	4.7	3.55	0.40652	.	.	.	.	.	D	0.85128	0.5626	M	0.88979	2.995	0.34717	D	0.728397	P	0.34757	0.467	B	0.39119	0.291	D	0.87037	0.2138	9	0.52906	T	0.07	.	8.3523	0.32310	0.0:0.0944:0.0:0.9056	.	975	E9PPU0	.	G	975	ENSP00000436337:D975G	ENSP00000436337:D975G	D	-	2	0	EPPK1	145016486	1.000000	0.71417	0.776000	0.31678	0.097000	0.18754	7.725000	0.84808	0.830000	0.34757	0.533000	0.62120	GAC		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
KCNS1	3787	ucsc.edu	37	20	43726792	43726792	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:43726792C>T	ENST00000306117.1	-	4	1017	c.621G>A	c.(619-621)tgG>tgA	p.W207*	KCNS1_ENST00000537075.1_Nonsense_Mutation_p.W207*	NM_002251.3	NP_002242.2	Q96KK3	KCNS1_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1	207					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel regulator activity (GO:0015459)			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CCATGGTCAGCCAGAGGCGGC	0.692																																						.											0													7.0	9.0	8.0					20																	43726792		1923	3859	5782	SO:0001587	stop_gained	3787			AF043473	CCDS13342.1	20q12	2011-07-05			ENSG00000124134	ENSG00000124134		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6300	protein-coding gene	gene with protein product		602905				9305895, 16382104	Standard	NM_002251		Approved	Kv9.1	uc002xnc.3	Q96KK3	OTTHUMG00000033079	ENST00000306117.1:c.621G>A	20.37:g.43726792C>T	ENSP00000307694:p.Trp207*	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUL9|B7ZM31|O43652|Q6DJU6	Nonsense_Mutation	SNP	ENST00000306117.1	37	CCDS13342.1	.	.	.	.	.	.	.	.	.	.	C	38	6.849962	0.97885	.	.	ENSG00000124134	ENST00000306117;ENST00000537075	.	.	.	4.7	3.73	0.42828	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0704	0.59057	0.0:0.9207:0.0:0.0793	.	.	.	.	X	207	.	ENSP00000307694:W207X	W	-	3	0	KCNS1	43160206	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.739000	0.62080	0.946000	0.37632	0.555000	0.69702	TGG		0.692	KCNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080507.3	NM_002251	
MEGF9	1955	ucsc.edu	37	9	123476127	123476127	+	Silent	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:123476127G>A	ENST00000373930.3	-	1	621	c.510C>T	c.(508-510)ccC>ccT	p.P170P	MEGF9_ENST00000426959.1_Silent_p.P162P	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	170	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCGGGGTCCGGGGAGTCGTGG	0.731																																						.											0													17.0	22.0	21.0					9																	123476127		1843	4050	5893	SO:0001819	synonymous_variant	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.510C>T	9.37:g.123476127G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z315|O75098	Silent	SNP	ENST00000373930.3	37	CCDS48010.2																																																																																				0.731	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497	
PCSK9	255738	ucsc.edu	37	1	55505643	55505643	+	Silent	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:55505643T>C	ENST00000302118.5	+	1	423	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L	PCSK9_ENST00000452118.2_Silent_p.L45L|PCSK9_ENST00000543384.1_5'Flank	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	45					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|kidney development (GO:0001822)|lipoprotein metabolic process (GO:0042157)|liver development (GO:0001889)|low-density lipoprotein particle receptor catabolic process (GO:0032802)|lysosomal transport (GO:0007041)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of receptor recycling (GO:0001920)|neurogenesis (GO:0022008)|neuron differentiation (GO:0030182)|phospholipid metabolic process (GO:0006644)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of receptor internalization (GO:0002092)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)|regulation of neuron apoptotic process (GO:0043523)|regulation of receptor activity (GO:0010469)|triglyceride metabolic process (GO:0006641)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	apolipoprotein binding (GO:0034185)|apolipoprotein receptor binding (GO:0034190)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein particle receptor binding (GO:0050750)|poly(A) RNA binding (GO:0044822)|protein self-association (GO:0043621)|serine-type endopeptidase activity (GO:0004252)|sodium channel inhibitor activity (GO:0019871)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGTGCTAGCCTTGCGTTCCGA	0.711																																					Pancreas(137;1454 1827 5886 22361 42375)	.											0													36.0	29.0	31.0					1																	55505643		2185	4268	6453	SO:0001819	synonymous_variant	255738			AX207686	CCDS603.1	1p34.1-p32	2014-09-17	2003-05-13		ENSG00000169174	ENSG00000169174			20001	protein-coding gene	gene with protein product		607786	"""hypercholesterolemia, autosomal dominant 3"""	HCHOLA3		12552133, 12730697	Standard	NM_174936		Approved	NARC-1, FH3	uc001cyf.2	Q8NBP7	OTTHUMG00000008136	ENST00000302118.5:c.133T>C	1.37:g.55505643T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8T640|C0JYY9|Q5PSM5|Q5SZQ2	Silent	SNP	ENST00000302118.5	37	CCDS603.1																																																																																				0.711	PCSK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022280.1	NM_174936	
OR14A16	284532	ucsc.edu	37	1	247978544	247978544	+	Missense_Mutation	SNP	G	G	A	rs113112592|rs35979231|rs375198428	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:247978544G>A	ENST00000357627.1	-	1	487	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTAGGATAAGGAGAAGGTGCC	0.453																																					Ovarian(112;180 1586 15073 21914 33526)	.											0													75.0	25.0	48.0					1																	247978544		2085	2469	4554	SO:0001583	missense	284532			BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.488C>T	1.37:g.247978544G>A	ENSP00000350248:p.Ser163Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	CCDS31097.1	386	0.17673992673992675	6	0.012195121951219513	71	0.19613259668508287	166	0.2902097902097902	143	0.18865435356200527	G	14.49	2.550057	0.45383	.	.	ENSG00000196772	ENST00000357627	T	0.00235	8.48	3.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	U	0.000467	T	0.00012	0.0000	M	0.87180	2.865	0.09310	N	1	P	0.49862	0.929	P	0.60173	0.87	T	0.15723	-1.0427	10	0.62326	D	0.03	.	11.4452	0.50118	0.0:0.1832:0.8168:0.0	.	163	Q8NHC5	O14AG_HUMAN	F	163	ENSP00000350248:S163F	ENSP00000350248:S163F	S	-	2	0	OR14A16	246045167	0.000000	0.05858	0.037000	0.18230	0.057000	0.15508	-2.127000	0.01315	2.010000	0.58986	0.590000	0.80494	TCC		0.453	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966	
ABCD1	215	mdanderson.org	37	X	153006076	153006076	+	Silent	SNP	C	C	T	rs199997983		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chrX:153006076C>T	ENST00000218104.3	+	7	2082	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	561	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTACCCGGACTCAGTGGAGG	0.637																																						.											0													81.0	65.0	70.0					X																	153006076		2203	4300	6503	SO:0001819	synonymous_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1683C>T	X.37:g.153006076C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6GTZ2	Silent	SNP	ENST00000218104.3	37	CCDS14728.1																																																																																				0.637	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
ARPP21	10777	mdanderson.org;bcgsc.ca	37	3	35833882	35833882	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:35833882C>A	ENST00000187397.4	+	19	2497	c.2041C>A	c.(2041-2043)Cca>Aca	p.P681T	ARPP21_ENST00000417925.1_Missense_Mutation_p.P682T|ARPP21_ENST00000458225.1_Missense_Mutation_p.P682T|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000444190.1_Missense_Mutation_p.P662T|ARPP21_ENST00000337271.5_Missense_Mutation_p.P662T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	681	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AGGTTACCAGCCAGTCTTGTC	0.468																																						.											0													162.0	170.0	167.0					3																	35833882		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2041C>A	3.37:g.35833882C>A	ENSP00000187397:p.Pro681Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	ENST00000187397.4	37	CCDS2661.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.293133	0.23564	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	5.71	3.92	0.45320	.	0.135690	0.50627	D	0.000118	T	0.55784	0.1942	L	0.60455	1.87	0.40003	D	0.975197	D;D;P;D	0.65815	0.995;0.957;0.819;0.995	D;P;B;D	0.68483	0.958;0.756;0.412;0.958	T	0.54430	-0.8295	10	0.20046	T	0.44	-4.9886	5.9087	0.19016	0.2736:0.5865:0.0:0.1399	.	682;204;681;662	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	T	682;662;662;681;682	ENSP00000414351:P682T;ENSP00000337792:P662T;ENSP00000405276:P662T;ENSP00000187397:P681T;ENSP00000412326:P682T	ENSP00000187397:P681T	P	+	1	0	ARPP21	35808886	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.915000	0.28638	0.755000	0.32990	0.655000	0.94253	CCA		0.468	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253334.2	NM_198399	
C17orf97	400566	mdanderson.org	37	17	263637	263637	+	Missense_Mutation	SNP	T	T	A	rs71369083|rs71145728		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:263637T>A	ENST00000360127.6	+	2	1019	c.1003T>A	c.(1003-1005)Ttc>Atc	p.F335I	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	365	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCTCAAGGGCTTCCACCCCGA	0.692																																						.											0													12.0	18.0	16.0					17																	263637		1773	3771	5544	SO:0001583	missense	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1003T>A	17.37:g.263637T>A	ENSP00000353245:p.Phe335Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030317	0.19512	.	.	ENSG00000187624	ENST00000360127	T	0.29397	1.57	2.05	2.05	0.26809	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	0.999999	P	0.44344	0.833	B	0.35182	0.197	T	0.07809	-1.0753	9	0.22109	T	0.4	.	4.5491	0.12103	0.288:0.0:0.0:0.712	.	335	Q6ZQX7-4	.	I	335	ENSP00000353245:F335I	ENSP00000353245:F335I	F	+	1	0	C17orf97	263983	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-3.798000	0.00363	0.877000	0.35895	0.172000	0.16884	TTC		0.692	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672	
DPY19L1	23333	mdanderson.org	37	7	34987258	34987258	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:34987258A>G	ENST00000310974.4	-	15	1403	c.1259T>C	c.(1258-1260)gTt>gCt	p.V420A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	420						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AACAATAGCAACAAACACTAC	0.318																																						.											0													69.0	73.0	72.0					7																	34987258		2164	4285	6449	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.1259T>C	7.37:g.34987258A>G	ENSP00000308695:p.Val420Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O94954|Q4G151	Missense_Mutation	SNP	ENST00000310974.4	37	CCDS43567.1	.	.	.	.	.	.	.	.	.	.	A	7.168	0.587071	0.13812	.	.	ENSG00000173852	ENST00000310974;ENST00000446375	T;T	0.57107	0.42;0.42	5.28	1.1	0.20463	.	0.811526	0.11732	N	0.534848	T	0.18215	0.0437	N	0.01352	-0.895	0.21861	N	0.9995	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.09843	T	0.71	-2.32	5.0712	0.14608	0.4821:0.1582:0.3597:0.0	.	420	Q2PZI1	D19L1_HUMAN	A	420;190	ENSP00000308695:V420A;ENSP00000400510:V190A	ENSP00000308695:V420A	V	-	2	0	DPY19L1	34953783	0.008000	0.16893	0.534000	0.28014	0.963000	0.63663	1.067000	0.30616	0.376000	0.24707	0.383000	0.25322	GTT		0.318	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337506.1		
DRD5	1816	mdanderson.org	37	4	9784542	9784542	+	Missense_Mutation	SNP	A	A	C	rs2227851		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr4:9784542A>C	ENST00000304374.2	+	1	1285	c.889A>C	c.(889-891)Acc>Ccc	p.T297P		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	297			T -> P (in dbSNP:rs2227851).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTTCTCAAGACCCTGTCGGT	0.632																																						.											0													54.0	51.0	52.0					4																	9784542		2202	4297	6499	SO:0001583	missense	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.889A>C	4.37:g.9784542A>C	ENSP00000306129:p.Thr297Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.24	3.788678	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.40225	1.04	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	H	0.99668	4.69	0.09310	P	0.999999880898	D	0.89917	1.0	D	0.97110	1.0	D	0.89804	0.3977	9	0.87932	D	0	.	13.5854	0.61928	1.0:0.0:0.0:0.0	rs2227851	297	P21918	DRD5_HUMAN	P	297	ENSP00000306129:T297P	ENSP00000306129:T297P	T	+	1	0	DRD5	9393640	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	8.711000	0.91396	1.990000	0.58119	0.377000	0.23210	ACC		0.632	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
ENAH	55740	mdanderson.org	37	1	225755060	225755060	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:225755060T>A	ENST00000366844.3	-	2	513	c.62A>T	c.(61-63)aAg>aTg	p.K21M	ENAH_ENST00000284563.6_Missense_Mutation_p.K21M|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.K21M	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	21	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CACCCACTTCTTATTGGCATC	0.398																																						.											0													174.0	158.0	164.0					1																	225755060		2203	4300	6503	SO:0001583	missense	55740			AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.62A>T	1.37:g.225755060T>A	ENSP00000355809:p.Lys21Met	Somatic		WXS	Illumina HiSeq	Phase_I	D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453247	0.63290	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	D;D;D	0.99005	-5.32;-5.32;-5.32	5.65	5.65	0.86999	EVH1 (3);Pleckstrin homology-type (1);Ran binding protein 1 (1);	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	M	0.90977	3.165	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.75484	0.977;0.986	D	0.98667	1.0686	10	0.87932	D	0	-24.5772	16.1778	0.81874	0.0:0.0:0.0:1.0	.	21;21	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	M	21;21;21;20	ENSP00000355809:K21M;ENSP00000355808:K21M;ENSP00000284563:K21M	ENSP00000284563:K21M	K	-	2	0	ENAH	223821683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.170000	0.71920	2.279000	0.76181	0.533000	0.62120	AAG		0.398	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	NM_018212	
FRG1B	284802	mdanderson.org	37	20	29624046	29624046	+	Missense_Mutation	SNP	C	C	T	rs10153995		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:29624046C>T	ENST00000278882.3	+	4	450	c.70C>T	c.(70-72)Cct>Tct	p.P24S	FRG1B_ENST00000439954.2_Missense_Mutation_p.P29S|FRG1B_ENST00000358464.4_Missense_Mutation_p.P24S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	24										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATGAGGGCCCTAGTCCTCC	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.70C>T	20.37:g.29624046C>T	ENSP00000278882:p.Pro24Ser	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	c	13.70	2.316522	0.40996	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.72394	-0.65	1.91	1.91	0.25777	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	.	.	.	0.54753	D	0.999982	.	.	.	.	.	.	T	0.76260	-0.3024	7	0.56958	D	0.05	.	9.8627	0.41125	0.0:1.0:0.0:0.0	rs10153995	.	.	.	S	24;29;24	ENSP00000408863:P29S	ENSP00000278882:P24S	P	+	1	0	FRG1B	28237707	1.000000	0.71417	0.999000	0.59377	0.522000	0.34438	6.186000	0.72026	1.383000	0.46405	0.184000	0.17185	CCT		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GOLGA6L6	727832	mdanderson.org	37	15	20739825	20739825	+	Missense_Mutation	SNP	G	G	A	rs28590435		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:20739825G>A	ENST00000427390.2	-	8	2015	c.1925C>T	c.(1924-1926)aCg>aTg	p.T642M		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	642	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctgttcctgcgtcatctcctc	0.542																																						.											0													5.0	5.0	5.0					15																	20739825		632	1458	2090	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1925C>T	15.37:g.20739825G>A	ENSP00000398615:p.Thr642Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTC0	Missense_Mutation	SNP	ENST00000427390.2	37	CCDS45184.1	.	.	.	.	.	.	.	.	.	.	A	0.843	-0.741385	0.03088	.	.	ENSG00000215405	ENST00000427390	T	0.08634	3.07	.	.	.	.	.	.	.	.	T	0.06142	0.0159	N	0.03608	-0.345	0.09310	N	1	D	0.69078	0.997	P	0.59056	0.851	T	0.30238	-0.9985	8	0.31617	T	0.26	.	2.6659	0.05051	0.4792:0.0:0.5208:0.0	rs28590435	642	A8MZA4	GG6L6_HUMAN	M	642	ENSP00000398615:T642M	ENSP00000398615:T642M	T	-	2	0	GOLGA6L6	18999839	0.000000	0.05858	0.053000	0.19242	0.053000	0.15095	-3.759000	0.00373	0.159000	0.19401	0.162000	0.16502	ACG		0.542	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
GOLGA8EP	390535	mdanderson.org	37	15	23445448	23445448	+	RNA	SNP	A	A	G	rs62001513	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:23445448A>G	ENST00000526079.1	+	0	2268				AC100757.1_ENST00000458911.1_RNA|RN7SL106P_ENST00000488468.2_RNA	NR_027407.1|NR_033350.1				golgin A8 family, member E, pseudogene																		TTGGCTGCCAAGAAGAAGGAG	0.468													a|||	1141	0.227835	0.1188	0.4438	5008	,	,		22805	0.0823		0.3479	False		,,,				2504	0.2485					.											0								A		614,3640		72,470,1585	64.0	72.0	69.0			-0.9	0.0	15	dbSNP_134	69	2912,5496		390,2132,1682	no	intergenic				462,2602,3267	GG,GA,AA		34.6337,14.4335,27.8471			23445448	3526,9136	2127	4204	6331			390535					15q11.2	2014-03-21	2012-10-05	2012-10-05	ENSG00000175676	ENSG00000175676			32377	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8E"", ""golgin A8 family, member E"""	GOLGA8E		12477932	Standard	NR_033350		Approved		uc001yvu.3		OTTHUMG00000167132		15.37:g.23445448A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000526079.1	37																																																																																					0.468	GOLGA8EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393312.1	NR_033350.1	
LRP3	4037	mdanderson.org	37	19	33697546	33697546	+	Silent	SNP	C	C	T	rs1056041	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:33697546C>T	ENST00000253193.7	+	6	1834	c.1632C>T	c.(1630-1632)ttC>ttT	p.F544F	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	544					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGCTGAGTTCGTGCGGCGGG	0.652													C|||	253	0.0505192	0.0098	0.0764	5008	,	,		15119	0.121		0.0447	False		,,,				2504	0.0204					.											0								C		101,4305	79.9+/-118.3	0,101,2102	90.0	86.0	87.0		1632	1.0	1.0	19	dbSNP_86	87	462,8138	137.5+/-194.4	15,432,3853	no	coding-synonymous	LRP3	NM_002333.3		15,533,5955	TT,TC,CC		5.3721,2.2923,4.3288		544/771	33697546	563,12443	2203	4300	6503	SO:0001819	synonymous_variant	4037			AB009462	CCDS12430.1	19q13.11	2013-05-30			ENSG00000130881	ENSG00000130881		"""Low density lipoprotein receptors"""	6695	protein-coding gene	gene with protein product		603159				9693042, 7959795	Standard	NM_002333		Approved	LRP-3, hLRp105	uc010edh.3	O75074	OTTHUMG00000180343	ENST00000253193.7:c.1632C>T	19.37:g.33697546C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQD6|B4DKF2	Silent	SNP	ENST00000253193.7	37	CCDS12430.1																																																																																				0.652	LRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450842.4		
MUC4	4585	mdanderson.org	37	3	195510030	195510030	+	Silent	SNP	C	C	G	rs374297426	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:195510030C>G	ENST00000463781.3	-	2	8880	c.8421G>C	c.(8419-8421)tcG>tcC	p.S2807S	MUC4_ENST00000475231.1_Silent_p.S2807S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_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.S2807S(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)		TGGACACTGACGAAGCGTCGG	0.582													.|||	29	0.00579073	0.0174	0.0014	5008	,	,		6131	0.002		0.001	False		,,,				2504	0.002					.											1	Substitution - coding silent(1)	endometrium(1)											75.0	46.0	55.0					3																	195510030		683	1492	2175	SO:0001819	synonymous_variant	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.8421G>C	3.37:g.195510030C>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195510053	195510053	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:195510053G>A	ENST00000463781.3	-	2	8857	c.8398C>T	c.(8398-8400)Cct>Tct	p.P2800S	MUC4_ENST00000475231.1_Missense_Mutation_p.P2800S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_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)		ACAGGAAGAGGGGTGGTGTGA	0.582																																						.											0													63.0	38.0	46.0					3																	195510053		685	1506	2191	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.8398C>T	3.37:g.195510053G>A	ENSP00000417498:p.Pro2800Ser	Somatic		WXS	Illumina HiSeq	Phase_I	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	.	.	.	.	.	.	.	.	.	.	-	6.826	0.521578	0.13005	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28895	1.59;1.59	0.918	0.918	0.19386	.	.	.	.	.	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.32693	-0.9897	8	.	.	.	.	1.7097	0.02889	0.4885:0.0:0.2306:0.2809	.	2672	E7ESK3	.	S	2800	ENSP00000417498:P2800S;ENSP00000420243:P2800S	.	P	-	1	0	MUC4	196994832	0.009000	0.17119	0.047000	0.18901	0.037000	0.13140	-0.556000	0.05992	-1.755000	0.01320	-1.973000	0.00462	CCT		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195510068	195510068	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr3:195510068T>A	ENST00000463781.3	-	2	8842	c.8383A>T	c.(8383-8385)Aca>Tca	p.T2795S	MUC4_ENST00000475231.1_Missense_Mutation_p.T2795S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_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)		GTGTGACCTGTGGATGCTGAG	0.587																																						.											0													60.0	35.0	42.0					3																	195510068		687	1520	2207	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.8383A>T	3.37:g.195510068T>A	ENSP00000417498:p.Thr2795Ser	Somatic		WXS	Illumina HiSeq	Phase_I	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	.	.	.	.	.	.	.	.	.	.	-	9.907	1.208477	0.22205	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.35789	1.29;1.41	0.918	-1.84	0.07809	.	.	.	.	.	T	0.13200	0.0320	N	0.08118	0	0.09310	N	1	B	0.29212	0.237	B	0.17722	0.019	T	0.24728	-1.0152	8	.	.	.	.	4.5474	0.12088	0.0:0.0:0.3203:0.6797	.	2667	E7ESK3	.	S	2795	ENSP00000417498:T2795S;ENSP00000420243:T2795S	.	T	-	1	0	MUC4	196994847	0.000000	0.05858	0.132000	0.22025	0.018000	0.09664	-1.580000	0.02121	0.363000	0.24346	0.063000	0.15292	ACA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC5B	727897	mdanderson.org	37	11	1271809	1271809	+	Missense_Mutation	SNP	G	G	A	rs2334756		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr11:1271809G>A	ENST00000529681.1	+	31	13757	c.13699G>A	c.(13699-13701)Gcc>Acc	p.A4567T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.A4570T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4567	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.			A -> T (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGTGCTTACCGCCACGGCCAC	0.647																																						.											0													127.0	165.0	153.0					11																	1271809		2072	4199	6271	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13699G>A	11.37:g.1271809G>A	ENSP00000436812:p.Ala4567Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	-	6.667	0.491655	0.12702	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.21191	2.02;2.2	2.37	-0.495	0.12030	.	.	.	.	.	T	0.04998	0.0134	N	0.00413	-1.525	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.36040	-0.9764	9	0.87932	D	0	.	3.6809	0.08310	0.5528:0.1921:0.2551:0.0	rs2334756;rs2943505	5040;4570	A7Y9J9;E9PBJ0	.;.	T	4567;4570;4511;4417;344	ENSP00000436812:A4567T;ENSP00000415793:A4570T	ENSP00000343037:A4511T	A	+	1	0	MUC5B	1228385	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-3.382000	0.00490	-1.160000	0.02804	-1.451000	0.01035	GCC		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OPRK1	4986	mdanderson.org;bcgsc.ca	37	8	54141872	54141872	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr8:54141872C>A	ENST00000265572.3	-	4	1425	c.1128G>T	c.(1126-1128)atG>atT	p.M376I	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.M376I|OPRK1_ENST00000524278.1_Missense_Mutation_p.M287I	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	376					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CTGGTTTATTCATCCCATCGA	0.468																																						.											0													120.0	104.0	110.0					8																	54141872		2203	4300	6503	SO:0001583	missense	4986				CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.1128G>T	8.37:g.54141872C>A	ENSP00000265572:p.Met376Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	2.914	-0.224603	0.06061	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.70631	-0.1;-0.5;-0.1	5.8	-1.93	0.07594	.	1.289330	0.04551	N	0.389855	T	0.47948	0.1473	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27773	-1.0064	10	0.32370	T	0.25	.	6.3688	0.21469	0.0:0.3619:0.3871:0.2511	.	376	P41145	OPRK_HUMAN	I	376;287;376;362	ENSP00000265572:M376I;ENSP00000430923:M287I;ENSP00000429706:M376I	ENSP00000265572:M376I	M	-	3	0	OPRK1	54304425	0.019000	0.18553	0.063000	0.19743	0.003000	0.03518	-0.126000	0.10563	-0.320000	0.08640	-0.810000	0.03169	ATG		0.468	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
OR10H2	26538	mdanderson.org	37	19	15839267	15839267	+	Silent	SNP	A	A	G	rs529528374		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:15839267A>G	ENST00000305899.3	+	1	434	c.414A>G	c.(412-414)ccA>ccG	p.P138P		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					TCATGAGCCCACGGGGCTGCG	0.637																																						.											0													90.0	74.0	79.0					19																	15839267		2203	4300	6503	SO:0001819	synonymous_variant	26538			AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.414A>G	19.37:g.15839267A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFQ1|Q96R58	Silent	SNP	ENST00000305899.3	37	CCDS12333.1																																																																																				0.637	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1		
PRB2	653247	mdanderson.org	37	12	11546808	11546808	+	Silent	SNP	A	A	G	rs1921331		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr12:11546808A>G	ENST00000389362.4	-	3	239	c.204T>C	c.(202-204)ccT>ccC	p.P68P	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	68	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].			P -> S (in Ref. 2; BX484538). {ECO:0000305}.		extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGACCTTGAGGCTGGTTGC	0.602																																						.											0													126.0	142.0	136.0					12																	11546808		2163	4250	6413	SO:0001819	synonymous_variant	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.204T>C	12.37:g.11546808A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	CCDS41757.2																																																																																				0.602	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
PRR21	643905	mdanderson.org	37	2	240982219	240982219	+	Missense_Mutation	SNP	A	A	G	rs74006013		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:240982219A>G	ENST00000408934.1	-	1	180	c.181T>C	c.(181-183)Tcc>Ccc	p.S61P		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	61	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AGAGCCGTGGATGAAGGGCCG	0.607																																						.											0													130.0	115.0	120.0					2																	240982219		2203	4300	6503	SO:0001583	missense	643905			AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.181T>C	2.37:g.240982219A>G	ENSP00000386166:p.Ser61Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000408934.1	37	CCDS33417.1	.	.	.	.	.	.	.	.	.	.	N	6.168	0.399216	0.11696	.	.	ENSG00000221961	ENST00000408934;ENST00000486799	T;T	0.26223	1.75;1.75	1.5	-2.16	0.07080	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.17722	0.019	T	0.25293	-1.0136	9	0.54805	T	0.06	.	2.7666	0.05322	0.3479:0.0:0.4377:0.2145	.	61	Q8WXC7	PRR21_HUMAN	P	61	ENSP00000386166:S61P;ENSP00000418240:S61P	ENSP00000386166:S61P	S	-	1	0	PRR21	240630892	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.540000	0.00437	-0.607000	0.05738	-0.484000	0.04775	TCC		0.607	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835	
PRSS3	5646	mdanderson.org	37	9	33796801	33796801	+	Splice_Site	SNP	G	G	A	rs143707562		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr9:33796801G>A	ENST00000361005.5	+	2	371		c.e2+1		PRSS3_ENST00000429677.3_Splice_Site|PRSS3_ENST00000342836.4_Splice_Site|PRSS3_ENST00000379405.3_Splice_Site|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCTACAAGACGTAAGTGTGGG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		18879	0.001		0.0	False		,,,				2504	0.0					.											0													70.0	70.0	70.0					9																	33796801		2203	4300	6503	SO:0001630	splice_region_variant	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.371+1G>A	9.37:g.33796801G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Splice_Site	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	G	7.509	0.654290	0.14580	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	.	.	.	3.21	2.29	0.28610	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1922	0.31374	0.1286:0.0:0.8714:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS3	33786801	1.000000	0.71417	0.775000	0.31657	0.032000	0.12392	8.277000	0.89896	0.482000	0.27582	0.306000	0.20318	.		0.597	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	Intron
SLC35G6	643664	mdanderson.org	37	17	7385436	7385436	+	Missense_Mutation	SNP	C	C	A	rs199848902	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr17:7385436C>A	ENST00000412468.2	+	2	248	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	POLR2A_ENST00000322644.6_5'Flank|ZBTB4_ENST00000380599.4_5'Flank|ZBTB4_ENST00000311403.4_Intron|POLR2A_ENST00000572844.1_5'Flank	NM_001102614.1	NP_001096084.1	P0C7Q6	S35G6_HUMAN	solute carrier family 35, member G6	45						integral component of membrane (GO:0016021)											GGTGGCCCTGCTGGGTGGGGG	0.662																																						.											0													39.0	46.0	44.0					17																	7385436		2203	4298	6501	SO:0001583	missense	643664				CCDS45603.1	17p13.1	2013-05-22	2011-08-03	2011-08-03		ENSG00000259224		"""Solute carriers"""	31351	protein-coding gene	gene with protein product			"""transmembrane protein 21B"", ""acyl-malonyl condensing enzyme 1-like 3"""	TMEM21B, AMAC1L3			Standard	NM_001102614		Approved		uc010cmj.1	P0C7Q6		ENST00000412468.2:c.133C>A	17.37:g.7385436C>A	ENSP00000396523:p.Leu45Met	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000412468.2	37	CCDS45603.1	.	.	.	.	.	.	.	.	.	.	c	0.220	-1.029059	0.02045	.	.	ENSG00000181222	ENST00000412468	T	0.35421	1.31	4.21	0.736	0.18307	.	.	.	.	.	T	0.22859	0.0552	N	0.24115	0.695	0.26348	N	0.977258	B	0.18013	0.025	B	0.21360	0.034	T	0.21690	-1.0238	9	0.41790	T	0.15	-3.4659	7.3485	0.26676	0.0:0.4871:0.3423:0.1706	.	45	P0C7Q6	S35G6_HUMAN	M	45	ENSP00000396523:L45M	ENSP00000396523:L45M	L	+	1	2	SLC35G6	7326160	0.999000	0.42202	0.999000	0.59377	0.019000	0.09904	0.383000	0.20651	0.055000	0.16094	-2.899000	0.00093	CTG		0.662	SLC35G6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001102614	
TUBA3D	113457	mdanderson.org	37	2	132240363	132240363	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:132240363A>G	ENST00000321253.6	+	5	1402	c.1295A>G	c.(1294-1296)tAt>tGt	p.Y432C	MZT2A_ENST00000410036.2_5'Flank	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	432					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		GAGAAGGATTATGAAGAGGTG	0.602																																					Ovarian(137;2059 2432 35543 39401)	.											0													142.0	144.0	143.0					2																	132240363		2203	4300	6503	SO:0001583	missense	113457			K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.1295A>G	2.37:g.132240363A>G	ENSP00000326042:p.Tyr432Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000321253.6	37	CCDS33290.1	.	.	.	.	.	.	.	.	.	.	g	8.730	0.916383	0.17907	.	.	ENSG00000075886	ENST00000321253;ENST00000341158	D	0.94497	-3.44	2.41	2.41	0.29592	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.43416	U	0.000561	D	0.98185	0.9400	H	0.99435	4.565	0.47621	D	0.999475	D	0.71674	0.998	D	0.79784	0.993	D	0.96794	0.9584	10	0.72032	D	0.01	.	8.339	0.32232	1.0:0.0:0.0:0.0	.	432	Q13748	TBA3C_HUMAN	C	432;400	ENSP00000326042:Y432C	ENSP00000326042:Y432C	Y	+	2	0	TUBA3D	131956833	1.000000	0.71417	0.986000	0.45419	0.199000	0.23934	5.545000	0.67237	1.095000	0.41419	0.163000	0.16589	TAT		0.602	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386	
TTN	7273	mdanderson.org;bcgsc.ca	37	2	179403401	179403401	+	Missense_Mutation	SNP	C	C	T	rs72648276		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:179403401C>T	ENST00000591111.1	-	304	94456	c.94232G>A	c.(94231-94233)cGt>cAt	p.R31411H	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R33052H|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24179H|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24112H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R23987H|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R30484H|TTN-AS1_ENST00000589842.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000431259.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31411	Fibronectin type-III 129. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			GTCCTTAATACGTTCCTTATT	0.443																																						.											0								C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,3873		0,1,1936	255.0	249.0	251.0		71960,91451,72335,72536	5.9	1.0	2	dbSNP_130	251	0,8260		0,0,4130	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,6066	TT,TC,CC		0.0,0.0258,0.0082	probably-damaging,probably-damaging,probably-damaging,probably-damaging	23987/26927,30484/33424,24112/27052,24179/27119	179403401	1,12133	1937	4130	6067	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.94232G>A	2.37:g.179403401C>T	ENSP00000465570:p.Arg31411His	Somatic		WXS	Illumina HiSeq	Phase_I	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		.	.	.	.	.	.	.	.	.	.	C	19.57	3.852156	0.71719	2.58E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	5.87	5.87	0.94306	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67268	0.2875	L	0.33792	1.035	0.52501	D	0.999955	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69824	0.966;0.966;0.966;0.966	T	0.68372	-0.5426	9	0.87932	D	0	.	16.8289	0.85939	0.129:0.871:0.0:0.0	.	23987;24112;24179;31411	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	30484;23987;24179;24112;23984	ENSP00000343764:R30484H;ENSP00000434586:R23987H;ENSP00000340554:R24179H;ENSP00000352154:R24112H	ENSP00000340554:R24179H	R	-	2	0	TTN	179111647	1.000000	0.71417	0.990000	0.47175	0.902000	0.53008	6.037000	0.70956	2.941000	0.99782	0.655000	0.94253	CGT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF208	7757	mdanderson.org	37	19	22155783	22155783	+	Missense_Mutation	SNP	C	C	T	rs199604702		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:22155783C>T	ENST00000397126.4	-	4	2201	c.2053G>A	c.(2053-2055)Gta>Ata	p.V685I	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	685					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTATGAATTACCTTATGTTTA	0.383																																						.											0													37.0	38.0	37.0					19																	22155783		1986	4182	6168	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2053G>A	19.37:g.22155783C>T	ENSP00000380315:p.Val685Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	C	4.480	0.089023	0.08583	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.17054	2.3	2.43	-4.86	0.03132	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	B	0.25441	0.126	B	0.24701	0.055	T	0.29852	-0.9998	8	0.42905	T	0.14	.	9.3378	0.38060	0.0:0.3337:0.0:0.6663	.	585	O43345	ZN208_HUMAN	I	685;585	ENSP00000380315:V685I	ENSP00000380315:V685I	V	-	1	0	ZNF208	21947623	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-6.732000	0.00055	-1.081000	0.03105	-1.169000	0.01745	GTA		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF773	374928	mdanderson.org	37	19	58016677	58016677	+	Silent	SNP	A	A	G	rs199730365		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:58016677A>G	ENST00000282292.4	+	3	311	c.171A>G	c.(169-171)gcA>gcG	p.A57A	ZNF773_ENST00000593916.1_Silent_p.A56A|ZNF773_ENST00000599847.1_Silent_p.A57A|ZNF773_ENST00000598770.1_Silent_p.A56A|AC003005.4_ENST00000601674.1_3'UTR	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	57	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TAGGACTTGCATCTTCCAAGA	0.468																																						.											0													77.0	75.0	76.0					19																	58016677		2202	4281	6483	SO:0001819	synonymous_variant	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.171A>G	19.37:g.58016677A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96DL8	Silent	SNP	ENST00000282292.4	37	CCDS33134.1																																																																																				0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542	
EXO1	9156	bcgsc.ca	37	1	242042205	242042205	+	Missense_Mutation	SNP	C	C	T	rs145789527		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr1:242042205C>T	ENST00000366548.3	+	13	2262	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	EXO1_ENST00000348581.5_Missense_Mutation_p.R557C|EXO1_ENST00000518483.1_Missense_Mutation_p.R557C	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	557					DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGATGTAGCACGTAATTCAAG	0.418								Editing and processing nucleases					C|||	1	0.000199681	0.0	0.0	5008	,	,		19127	0.001		0.0	False		,,,				2504	0.0					.											0								C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	141.0	129.0	133.0		1669,1669,1669	1.9	0.0	1	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	EXO1	NM_003686.4,NM_006027.4,NM_130398.3	180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	557/804,557/847,557/847	242042205	1,13005	2203	4300	6503	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1669C>T	1.37:g.242042205C>T	ENSP00000355506:p.Arg557Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	C	9.517	1.107222	0.20714	0.0	1.16E-4	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.32988	1.43;1.43;1.43	4.78	1.93	0.25924	.	2.173490	0.03320	N	0.191799	T	0.24547	0.0595	N	0.22421	0.69	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.28618	-1.0038	10	0.56958	D	0.05	-8.5195	8.3411	0.32243	0.0:0.737:0.0:0.263	.	556;557;557	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	C	557	ENSP00000355506:R557C;ENSP00000311873:R557C;ENSP00000430251:R557C	ENSP00000311873:R557C	R	+	1	0	EXO1	240108828	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.413000	0.07123	0.262000	0.21774	-0.143000	0.13931	CGT		0.418	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
AAGAB	79719	bcgsc.ca	37	15	67495157	67495166	+	Stop_Codon_Del	DEL	AATTCAGTGC	AATTCAGTGC	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	AATTCAGTGC	AATTCAGTGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr15:67495157_67495166delAATTCAGTGC	ENST00000261880.5	-	0	1045_1054				AAGAB_ENST00000538028.1_5'UTR|AAGAB_ENST00000542650.1_Stop_Codon_Del|AAGAB_ENST00000561452.1_Stop_Codon_Del	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein						protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGTATGAATAATTCAGTGCTCTTCATCAGA	0.433																																						.											0																																										SO:0001567	stop_retained_variant	79719			AL136715	CCDS42050.1, CCDS61679.1	15q22.33-q23	2014-02-12	2009-07-20		ENSG00000103591	ENSG00000103591			25662	protein-coding gene	gene with protein product		614888				11230166, 10477754	Standard	NM_024666		Approved	FLJ11506, p34	uc002aqk.5	Q6PD74	OTTHUMG00000172246	Exception_encountered	15.37:g.67495157_67495166delAATTCAGTGC	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG44|Q6FI86|Q7Z5X9|Q9H0P1|Q9HAK0	Frame_Shift_Del	DEL	ENST00000261880.5	37	CCDS42050.1																																																																																				0.433	AAGAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417472.1	NM_024666	
LTBP4	8425	bcgsc.ca	37	19	41112172	41112172	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr19:41112172C>T	ENST00000308370.7	+	8	1028	c.1028C>T	c.(1027-1029)cCt>cTt	p.P343L	LTBP4_ENST00000204005.9_Missense_Mutation_p.P306L|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.P276L|RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	343					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGATGGACCTTGTCCAACC	0.622																																						.											0													21.0	23.0	22.0					19																	41112172		1914	4122	6036	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.1028C>T	19.37:g.41112172C>T	ENSP00000311905:p.Pro343Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37		.	.	.	.	.	.	.	.	.	.	C	12.15	1.852756	0.32699	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	D;D;D	0.90788	-2.73;-2.73;-2.73	3.95	2.88	0.33553	Matrix fibril-associated (2);	0.488989	0.15274	N	0.271066	T	0.82235	0.4993	N	0.22421	0.69	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.73411	-0.3991	10	0.27785	T	0.31	.	9.6525	0.39906	0.0:0.8921:0.0:0.1079	.	276;343;306	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	L	306;343;276	ENSP00000204005:P306L;ENSP00000311905:P343L;ENSP00000380031:P276L	ENSP00000204005:P306L	P	+	2	0	LTBP4	45804012	0.970000	0.33590	0.989000	0.46669	0.504000	0.33889	1.970000	0.40520	0.840000	0.34995	0.305000	0.20034	CCT		0.622	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
PCGF1	84759	bcgsc.ca	37	2	74734183	74734184	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:74734183_74734184delCT	ENST00000233630.6	-	2	1095_1096	c.184_185delAG	c.(184-186)aggfs	p.R62fs	LBX2-AS1_ENST00000548978.2_RNA|LBX2-AS1_ENST00000603175.1_RNA|PCGF1_ENST00000480844.2_5'UTR	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	62					histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						ATGAAGACACTCTGTGATGGTG	0.52																																						.											0																																										SO:0001589	frameshift_variant	84759			AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.184_185delAG	2.37:g.74734183_74734184delCT	ENSP00000233630:p.Arg62fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z506	Frame_Shift_Del	DEL	ENST00000233630.6	37	CCDS1946.2																																																																																				0.520	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	
SLC13A3	64849	bcgsc.ca	37	20	45212262	45212262	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr20:45212262A>G	ENST00000279027.4	-	9	1186	c.1168T>C	c.(1168-1170)Ttc>Ctc	p.F390L	SLC13A3_ENST00000472148.1_Missense_Mutation_p.F308L|SLC13A3_ENST00000396360.1_Missense_Mutation_p.F308L|SLC13A3_ENST00000290317.5_Missense_Mutation_p.F343L|SLC13A3_ENST00000495082.1_Missense_Mutation_p.F343L|SLC13A3_ENST00000464518.1_5'UTR|SLC13A3_ENST00000435032.1_Silent_p.C12C|SLC13A3_ENST00000413164.2_Missense_Mutation_p.F340L	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	390					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGGAAGAAGAACAAGATGGTG	0.562																																						.											0													133.0	112.0	119.0					20																	45212262		2203	4300	6503	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1168T>C	20.37:g.45212262A>G	ENSP00000279027:p.Phe390Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.7|28.7	4.939668|4.939668	0.92526|0.92526	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915|ENST00000450298	T;T;T;T;T;T;T|.	0.02103|.	4.45;4.6;4.45;4.6;4.45;4.45;4.45|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79452|0.79452	0.4448|0.4448	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.59357|.	0.903;0.981;0.473;0.985|.	B;P;B;P|.	0.60286|.	0.393;0.797;0.27;0.872|.	T|T	0.81929|0.81929	-0.0708|-0.0708	10|5	0.87932|.	D|.	0|.	-36.4623|-36.4623	16.0152|16.0152	0.80434|0.80434	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	340;308;343;390|.	B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9|.	.;.;.;S13A3_HUMAN|.	L|A	343;308;390;308;340;343;343|219	ENSP00000290317:F343L;ENSP00000379648:F308L;ENSP00000279027:F390L;ENSP00000420177:F308L;ENSP00000415852:F340L;ENSP00000419621:F343L;ENSP00000417784:F343L|.	ENSP00000279027:F390L|.	F|V	-|-	1|2	0|0	SLC13A3|SLC13A3	44645669|44645669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	8.182000|8.182000	0.89698|0.89698	2.180000|2.180000	0.69256|0.69256	0.533000|0.533000	0.62120|0.62120	TTC|GTT		0.562	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
DIMT1	27292	bcgsc.ca	37	5	61699552	61699571	+	Frame_Shift_Del	DEL	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	-	rs367686764		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	CCTGCCGCCCGCGGCGGCGG	CCTGCCGCCCGCGGCGGCGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENST00000199320.4	-	1	189_208	c.29_48delCCGCCGCCGCGGGCGGCAGG	c.(28-48)gccgccgccgcgggcggcaggfs	p.AAAAGGR10fs	KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.AAAAGGR10fs	NM_014473.2	NP_055288.1	Q9UNQ2	DIM1_HUMAN	DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae)	10						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	18S rRNA (adenine(1779)-N(6)/adenine(1780)-N(6))-dimethyltransferase activity (GO:0052909)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)										GGCGCTGCTCCTGCCGCCCGCGGCGGCGGCCGATGGCCCC	0.705																																						.											0																																										SO:0001589	frameshift_variant	27292			AF102147	CCDS3981.1	5q12.1	2011-08-11	2011-08-11	2011-08-11	ENSG00000086189	ENSG00000086189			30217	protein-coding gene	gene with protein product		612499	"""DIM1 dimethyladenosine transferase 1-like (S. cerevisiae)"""	DIMT1L		11124703	Standard	NM_014473		Approved	HSA9761	uc003jta.3	Q9UNQ2	OTTHUMG00000131223	ENST00000199320.4:c.29_48delCCGCCGCCGCGGGCGGCAGG	5.37:g.61699552_61699571delCCTGCCGCCCGCGGCGGCGG	ENSP00000199320:p.Ala10fs	Somatic		WXS	Illumina HiSeq	Phase_I	O76025|Q9BU77|Q9UES1	Frame_Shift_Del	DEL	ENST00000199320.4	37	CCDS3981.1																																																																																				0.705	DIMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253967.1	NM_014473	
PCDHA8	56140	bcgsc.ca	37	5	140222138	140222138	+	Missense_Mutation	SNP	G	G	C	rs144906391	byFrequency	TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr5:140222138G>C	ENST00000531613.1	+	1	1232	c.1232G>C	c.(1231-1233)aGc>aCc	p.S411T	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S411T|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	411	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGACAGCGCCCTGGAC	0.627													.|||	13	0.00259585	0.003	0.0043	5008	,	,		16977	0.002		0.004	False		,,,				2504	0.0					.											0													130.0	113.0	119.0					5																	140222138		2202	4290	6492	SO:0001583	missense	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1232G>C	5.37:g.140222138G>C	ENSP00000434655:p.Ser411Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	7.775	0.708334	0.15239	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.52057	0.68;0.68	3.57	2.68	0.31781	Cadherin (4);Cadherin-like (1);	0.343970	0.20583	U	0.089491	T	0.27832	0.0685	N	0.16066	0.365	0.09310	N	1	B;B	0.28900	0.227;0.092	B;B	0.29785	0.107;0.094	T	0.15065	-1.0450	10	0.44086	T	0.13	.	7.0255	0.24938	0.2939:0.0:0.7061:0.0	.	411;411	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	T	411	ENSP00000434655:S411T;ENSP00000367363:S411T	ENSP00000367363:S411T	S	+	2	0	PCDHA8	140202322	0.000000	0.05858	0.893000	0.35052	0.373000	0.29922	-0.036000	0.12185	0.610000	0.30035	0.306000	0.20318	AGC		0.627	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
C6orf201	404220	bcgsc.ca	37	6	4087901	4087901	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr6:4087901T>C	ENST00000380175.4	+	2	791	c.26T>C	c.(25-27)cTt>cCt	p.L9P	FAM217A_ENST00000380188.2_5'Flank|C6orf201_ENST00000430835.2_Missense_Mutation_p.L9P|C6orf201_ENST00000360378.6_3'UTR|C6orf201_ENST00000333388.5_Intron	NM_001085401.2	NP_001078870.1	Q7Z4U5	CF201_HUMAN	chromosome 6 open reading frame 201	9										central_nervous_system(1)|endometrium(3)|lung(2)	6	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CACGAGCTGCTTCCGAATCAC	0.488																																						.											0													212.0	224.0	221.0					6																	4087901		1920	4148	6068	SO:0001583	missense	404220			BC047663	CCDS43419.1	6p25.2	2012-02-21			ENSG00000185689	ENSG00000185689			21620	protein-coding gene	gene with protein product							Standard	NM_001085401		Approved	dJ1013A10.5	uc003mwa.4	Q7Z4U5	OTTHUMG00000014160	ENST00000380175.4:c.26T>C	6.37:g.4087901T>C	ENSP00000420610:p.Leu9Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLI6|Q6NXN5	Missense_Mutation	SNP	ENST00000380175.4	37	CCDS43419.1	.	.	.	.	.	.	.	.	.	.	T	13.95	2.391047	0.42410	.	.	ENSG00000185689	ENST00000541127;ENST00000380175;ENST00000451679;ENST00000436110;ENST00000430835	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	4.28	4.28	0.50868	.	0.203527	0.24737	N	0.036011	T	0.34658	0.0905	L	0.29908	0.895	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.28396	-1.0045	10	0.87932	D	0	.	9.9695	0.41745	0.0:0.0:0.0:1.0	.	9;9	B4DXB2;Q7Z4U5	.;CF201_HUMAN	P	9	ENSP00000420610:L9P;ENSP00000420763:L9P;ENSP00000417981:L9P;ENSP00000396912:L9P	ENSP00000420610:L9P	L	+	2	0	C6orf201	4032900	0.994000	0.37717	0.993000	0.49108	0.189000	0.23516	3.100000	0.50275	1.927000	0.55829	0.460000	0.39030	CTT		0.488	C6orf201-001	KNOWN	NMD_exception|basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000314019.2	NM_001085401	
EPHA1	2041	bcgsc.ca	37	7	143095694	143095694	+	Splice_Site	DEL	C	C	-			TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr7:143095694delC	ENST00000275815.3	-	6	1422	c.1336delG	c.(1336-1338)gag>ag	p.E446fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	446					activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGCCTCTCACCTGCATGCCCC	0.547																																						.											0													46.0	44.0	44.0					7																	143095694		2203	4300	6503	SO:0001630	splice_region_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.1336+1G>-	7.37:g.143095694delC		Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.547	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1		Frame_Shift_Del
MPHOSPH10	10199	bcgsc.ca	37	2	71366963	71366964	+	In_Frame_Ins	INS	-	-	AGG	rs536292890		TCGA-KL-8335-01A-11D-2310-10	TCGA-KL-8335-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8718bf72-de76-4fbd-9a6e-4692c67e38c1	3e52626f-e481-4859-8aab-36cd2b5f5375	g.chr2:71366963_71366964insAGG	ENST00000244230.2	+	6	1631_1632	c.1279_1280insAGG	c.(1279-1281)gat>gAGGat	p.426_427insE		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	426					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TCAACTGGAAGATATCATTAAA	0.337																																						.											0																																										SO:0001652	inframe_insertion	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	Exception_encountered	2.37:g.71366963_71366964insAGG	ENSP00000244230:p.Glu426_Glu426dup	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVJ8	In_Frame_Ins	INS	ENST00000244230.2	37	CCDS1916.1																																																																																				0.337	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251924.2	NM_005791	
