#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACSM2B	348158	hgsc.bcm.edu	37	16	20570686	20570686	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr16:20570686A>G	ENST00000329697.6	-	3	429	c.261T>C	c.(259-261)agT>agC	p.S87S	ACSM2B_ENST00000414188.2_Silent_p.S87S|ACSM2B_ENST00000565322.1_Silent_p.S8S|ACSM2B_ENST00000567001.1_Silent_p.S87S|ACSM2B_ENST00000565232.1_Silent_p.S87S	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	87					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGCTGTTTTCACTCAGTTCTC	0.587																																																	0													40.0	33.0	35.0					16																	20570686		2199	4284	6483	SO:0001819	synonymous_variant	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.261T>C	16.37:g.20570686A>G			Q86YT1	Silent	SNP	ENST00000329697.6	37	CCDS10586.1																																																																																				0.587	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2		NM_182617	
AHNAK2	113146	hgsc.bcm.edu	37	14	105415748	105415748	+	Missense_Mutation	SNP	G	G	A	rs118171013	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:105415748G>A	ENST00000333244.5	-	7	6159	c.6040C>T	c.(6040-6042)Cct>Tct	p.P2014S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2014						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGGTGCAGGCACATCCACC	0.597													.|||	1504	0.300319	0.1377	0.3631	5008	,	,		15992	0.0903		0.5447	False		,,,				2504	0.4407																0								A	SER/PRO	806,3058		129,548,1255	138.0	119.0	125.0		6040	-7.4	0.0	14	dbSNP_132	125	4479,3641		1443,1593,1024	no	missense	AHNAK2	NM_138420.2	74	1572,2141,2279	AA,AG,GG		44.8399,20.8592,44.1005	benign	2014/5796	105415748	5285,6699	1932	4060	5992	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6040C>T	14.37:g.105415748G>A	ENSP00000353114:p.Pro2014Ser		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	657	0.3008241758241758	79	0.16056910569105692	137	0.3784530386740331	35	0.06118881118881119	406	0.5356200527704486	-	0.114	-1.134216	0.01742	0.208592	0.551601	ENSG00000185567	ENST00000333244	T	0.04015	3.73	3.72	-7.44	0.01379	.	.	.	.	.	T	0.00012	0.0000	N	0.00019	-2.785	0.80722	P	0.0	B	0.09022	0.002	B	0.01281	0.0	T	0.49818	-0.8899	8	0.06891	T	0.86	-0.9503	1.4552	0.02383	0.2249:0.2846:0.3034:0.1871	.	2014	Q8IVF2	AHNK2_HUMAN	S	2014	ENSP00000353114:P2014S	ENSP00000353114:P2014S	P	-	1	0	AHNAK2	104486793	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-3.592000	0.00421	-1.485000	0.01854	-2.164000	0.00325	CCT		0.597	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
AIFM3	150209	hgsc.bcm.edu;ucsc.edu	37	22	21332000	21332000	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:21332000G>A	ENST00000399167.2	+	15	1534	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	AIFM3_ENST00000440238.2_Missense_Mutation_p.A432T|AIFM3_ENST00000399163.2_Missense_Mutation_p.A432T|AIFM3_ENST00000335375.5_Missense_Mutation_p.A420T|AIFM3_ENST00000405089.1_Missense_Mutation_p.A438T|AIFM3_ENST00000333607.6_Missense_Mutation_p.A432T|AIFM3_ENST00000465606.1_3'UTR	NM_144704.2	NP_653305.1	Q96NN9	AIFM3_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 3	432					cell redox homeostasis (GO:0045454)|execution phase of apoptosis (GO:0097194)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGCAGTGCCCGCCACAGGCTT	0.617																																																	0													73.0	68.0	70.0					22																	21332000		2203	4300	6503	SO:0001583	missense	150209			AK094844	CCDS13786.1, CCDS33605.1, CCDS54503.1	22q11.21	2007-05-03			ENSG00000183773	ENSG00000183773			26398	protein-coding gene	gene with protein product						15764604	Standard	NM_144704		Approved	AIFL, FLJ30473		Q96NN9	OTTHUMG00000150804	ENST00000399167.2:c.1294G>A	22.37:g.21332000G>A	ENSP00000382120:p.Ala432Thr		B7WP37|D3DX37|D3DX38|Q6ZT44|Q8N1V3|Q8N5E0	Missense_Mutation	SNP	ENST00000399167.2	37	CCDS13786.1	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683783	0.14907	.	.	ENSG00000183773	ENST00000399167;ENST00000399163;ENST00000405089;ENST00000335375;ENST00000440238;ENST00000333607	T;T;T;T;T;T	0.52295	0.68;0.68;0.68;0.67;0.68;0.68	4.66	4.66	0.58398	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.062488	0.64402	D	0.000006	T	0.41971	0.1182	M	0.78801	2.425	0.58432	D	0.999997	P;B;B;B;B	0.35844	0.524;0.334;0.013;0.003;0.016	B;B;B;B;B	0.31101	0.098;0.124;0.009;0.009;0.087	T	0.29150	-1.0021	10	0.13853	T	0.58	.	9.1301	0.36839	0.1025:0.0:0.8975:0.0	.	420;420;438;432;432	B7Z9S7;B7Z376;Q96NN9-2;Q96NN9-3;Q96NN9	.;.;.;.;AIFM3_HUMAN	T	432;432;438;420;432;432	ENSP00000382120:A432T;ENSP00000382116:A432T;ENSP00000385800:A438T;ENSP00000335369:A420T;ENSP00000390798:A432T;ENSP00000327671:A432T	ENSP00000327671:A432T	A	+	1	0	AIFM3	19662000	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	5.834000	0.69361	2.291000	0.77112	0.460000	0.39030	GCC		0.617	AIFM3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320150.1		NM_144704	
ANPEP	290	hgsc.bcm.edu	37	15	90342493	90342493	+	Silent	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr15:90342493G>C	ENST00000300060.6	-	14	2320	c.2007C>G	c.(2005-2007)gcC>gcG	p.A669A	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	669	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	GCACTCACCTGGCCAGGTTGA	0.582																																					NSCLC(30;827 977 2459 19669 26125)												0													112.0	97.0	102.0					15																	90342493		2200	4299	6499	SO:0001819	synonymous_variant	290			M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2007C>G	15.37:g.90342493G>C			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	ENST00000300060.6	37	CCDS10356.1																																																																																				0.582	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			
ARV1	64801	hgsc.bcm.edu	37	1	231131724	231131724	+	Missense_Mutation	SNP	A	A	G	rs201927559		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:231131724A>G	ENST00000310256.2	+	4	724	c.667A>G	c.(667-669)Att>Gtt	p.I223V	ARV1_ENST00000366658.2_Missense_Mutation_p.I183V|ARV1_ENST00000497753.1_3'UTR	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	223					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TTTTCAGGCAATTAGAGGTAT	0.358																																																	0													86.0	85.0	85.0					1																	231131724		2203	4300	6503	SO:0001583	missense	64801			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.667A>G	1.37:g.231131724A>G	ENSP00000312458:p.Ile223Val		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Missense_Mutation	SNP	ENST00000310256.2	37	CCDS1589.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854700	0.32791	.	.	ENSG00000173409	ENST00000310256;ENST00000366658	T;T	0.42131	0.98;0.98	5.4	-2.61	0.06171	.	0.295654	0.35903	N	0.002902	T	0.24586	0.0596	N	0.21583	0.68	0.31976	N	0.606516	B	0.14805	0.011	B	0.16289	0.015	T	0.10730	-1.0617	10	0.39692	T	0.17	-13.6335	11.2991	0.49295	0.6108:0.0:0.3892:0.0	.	223	Q9H2C2	ARV1_HUMAN	V	223;183	ENSP00000312458:I223V;ENSP00000355618:I183V	ENSP00000312458:I223V	I	+	1	0	ARV1	229198347	0.999000	0.42202	0.080000	0.20451	0.955000	0.61496	3.506000	0.53364	-0.396000	0.07703	0.528000	0.53228	ATT		0.358	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2		NM_022786	
ASS1	445	hgsc.bcm.edu;ucsc.edu	37	9	133339550	133339550	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr9:133339550T>C	ENST00000372394.1	+	6	897	c.416T>C	c.(415-417)aTa>aCa	p.I139T	ASS1_ENST00000372393.3_Missense_Mutation_p.I139T|ASS1_ENST00000352480.5_Missense_Mutation_p.I139T			P00966	ASSY_HUMAN	argininosuccinate synthase 1	139					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	GCCCCCCAGATAAAGGTAGGA	0.592																																																	0													96.0	79.0	85.0					9																	133339550		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.416T>C	9.37:g.133339550T>C	ENSP00000361471:p.Ile139Thr		Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	ENST00000372394.1	37	CCDS6933.1	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460155	0.63401	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393;ENST00000422569	D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18	4.51	4.51	0.55191	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.109085	0.43579	U	0.000548	D	0.99074	0.9682	M	0.90595	3.13	0.43076	D	0.994725	P;P	0.39071	0.658;0.658	P;P	0.57009	0.811;0.811	D	0.99887	1.1125	10	0.87932	D	0	.	11.599	0.50990	0.0:0.0:0.0:1.0	.	139;139	A8KAP9;P00966	.;ASSY_HUMAN	T	139	ENSP00000253004:I139T;ENSP00000361471:I139T;ENSP00000361469:I139T;ENSP00000394212:I139T	ENSP00000361470:I139T	I	+	2	0	ASS1	132329371	1.000000	0.71417	0.998000	0.56505	0.627000	0.37826	6.654000	0.74387	1.680000	0.50976	0.459000	0.35465	ATA		0.592	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054652.1		NM_000050	
ATP13A2	23400	hgsc.bcm.edu	37	1	17331235	17331235	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:17331235C>A	ENST00000326735.8	-	5	462	c.429G>T	c.(427-429)aaG>aaT	p.K143N	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.K143N|ATP13A2_ENST00000341676.5_Missense_Mutation_p.K143N			Q9NQ11	AT132_HUMAN	ATPase type 13A2	143					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGGCCGTATCCTTCCAGGCAC	0.647																																																	0													85.0	88.0	87.0					1																	17331235		2203	4300	6503	SO:0001583	missense	23400			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.429G>T	1.37:g.17331235C>A	ENSP00000327214:p.Lys143Asn		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	ENST00000326735.8	37	CCDS175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.75|13.75	2.329506|2.329506	0.41197|0.41197	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000510069;ENST00000508222;ENST00000509619|ENST00000326735;ENST00000341676;ENST00000452699;ENST00000511957	.|T;T;T;T	.|0.67698	.|1.91;1.91;1.91;-0.28	4.38|4.38	0.843|0.843	0.18935|0.18935	.|.	.|1.632390	.|0.02866	.|N	.|0.130998	.|T	.|0.60143	.|0.2246	L|L	0.44542|0.44542	1.39|1.39	0.27414|0.27414	N|N	0.954498|0.954498	.|B;B;B	.|0.32010	.|0.001;0.351;0.173	.|B;B;B	.|0.35182	.|0.017;0.197;0.158	.|T	.|0.43702	.|-0.9375	.|10	.|0.17369	.|T	.|0.5	-13.4973|-13.4973	8.6192|8.6192	0.33851|0.33851	0.0:0.6573:0.0:0.3427|0.0:0.6573:0.0:0.3427	.|.	.|143;143;143	.|Q5JXY1;Q6S9Z9;Q9NQ11	.|.;.;AT132_HUMAN	X|N	119;55;136|143;143;143;47	.|ENSP00000327214:K143N;ENSP00000341115:K143N;ENSP00000413307:K143N;ENSP00000427241:K47N	.|ENSP00000327214:K143N	G|K	-|-	1|3	0|2	ATP13A2|ATP13A2	17203822|17203822	0.981000|0.981000	0.34729|0.34729	0.996000|0.996000	0.52242|0.52242	0.832000|0.832000	0.47134|0.47134	0.695000|0.695000	0.25527|0.25527	0.418000|0.418000	0.25898|0.25898	0.313000|0.313000	0.20887|0.20887	GGA|AAG		0.647	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006617.1		NM_022089	
BAI3	577	hgsc.bcm.edu;ucsc.edu	37	6	69943308	69943308	+	Splice_Site	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:69943308A>T	ENST00000370598.1	+	18	3428	c.2607A>T	c.(2605-2607)atA>atT	p.I869I	BAI3_ENST00000238918.8_Splice_Site_p.I75I	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	869					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTAGAGAAATAGTAAGTAACA	0.433																																																	0													133.0	123.0	126.0					6																	69943308		2203	4300	6503	SO:0001630	splice_region_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.2607+1A>T	6.37:g.69943308A>T			B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Silent	SNP	ENST00000370598.1	37	CCDS4968.1																																																																																				0.433	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			Silent
BICD2	23299	hgsc.bcm.edu	37	9	95481408	95481408	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr9:95481408T>C	ENST00000375512.3	-	5	1586	c.1519A>G	c.(1519-1521)Aag>Gag	p.K507E	BICD2_ENST00000356884.6_Missense_Mutation_p.K507E	NM_015250.3	NP_056065.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	507					cell death (GO:0008219)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase binding (GO:0017137)			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTCACCTTCTTTAGCTCCTTC	0.637																																																	0													66.0	61.0	63.0					9																	95481408		2203	4300	6503	SO:0001583	missense	23299			AB014599	CCDS6700.1, CCDS35064.1	9q22.32	2008-02-05			ENSG00000185963	ENSG00000185963			17208	protein-coding gene	gene with protein product		609797				9734811	Standard	NM_001003800		Approved	KIAA0699	uc004asp.1	Q8TD16	OTTHUMG00000021036	ENST00000375512.3:c.1519A>G	9.37:g.95481408T>C	ENSP00000364662:p.Lys507Glu		O75181|Q5TBQ2|Q5TBQ3|Q96LH2|Q9BT84|Q9H561	Missense_Mutation	SNP	ENST00000375512.3	37	CCDS6700.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.401195	0.42613	.	.	ENSG00000185963	ENST00000356884;ENST00000375512	T;T	0.44083	0.93;0.93	5.39	5.39	0.77823	.	0.111100	0.64402	D	0.000012	T	0.34395	0.0896	L	0.47716	1.5	0.34054	D	0.656538	P;P	0.39782	0.688;0.533	B;B	0.36719	0.231;0.183	T	0.46830	-0.9163	10	0.16420	T	0.52	-51.8108	13.6524	0.62318	0.0:0.0:0.0:1.0	.	507;507	Q8TD16-2;Q8TD16	.;BICD2_HUMAN	E	507	ENSP00000349351:K507E;ENSP00000364662:K507E	ENSP00000349351:K507E	K	-	1	0	BICD2	94521229	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	3.329000	0.52060	2.185000	0.69588	0.459000	0.35465	AAG		0.637	BICD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055508.1		NM_015250	
BTNL3	10917	hgsc.bcm.edu;ucsc.edu	37	5	180429757	180429759	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	GAT	GAT	GAT	-	GAT	GAT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:180429757_180429759delGAT	ENST00000342868.6	+	4	943_945	c.759_761delGAT	c.(757-762)gggatg>ggg	p.M254del		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	254						integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTGTCATGGGGATGATAATTGTT	0.493																																																	0																																										SO:0001651	inframe_deletion	10917			AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.759_761delGAT	5.37:g.180429760_180429762delGAT	ENSP00000341787:p.Met254del		Q496L7|Q9Y2C7	In_Frame_Del	DEL	ENST00000342868.6	37	CCDS47358.1																																																																																				0.493	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2		NM_197975	
MAPKAPK5	8550	hgsc.bcm.edu	37	12	112280586	112280586	+	Intron	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr12:112280586T>G	ENST00000551404.2	+	1	144				MAPKAPK5_ENST00000550735.2_Intron|MAPKAPK5_ENST00000546394.1_Intron|MAPKAPK5_ENST00000547305.1_Intron|MAPKAPK5-AS1_ENST00000428207.1_lincRNA			Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5						activation of MAPK activity (GO:0000187)|MAPK cascade (GO:0000165)|negative regulation of TOR signaling (GO:0032007)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of translation (GO:0006417)|signal transduction (GO:0007165)|stress-induced premature senescence (GO:0090400)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(11)|ovary(1)	13						AAGGGGGAGGTGCCCCCTCTT	0.607																																																	0													36.0	46.0	43.0					12																	112280586		1957	4132	6089	SO:0001627	intron_variant	0			AF032437	CCDS44975.1, CCDS44976.1	12q24.13	2012-05-30			ENSG00000089022	ENSG00000089022			6889	protein-coding gene	gene with protein product		606723				9628874	Standard	NM_003668		Approved	PRAK	uc001tta.4	Q8IW41	OTTHUMG00000169605	ENST00000551404.2:c.36+13T>G	12.37:g.112280586T>G			B3KVA5|O60491|Q86X46|Q9BVX9|Q9UG86	RNA	SNP	ENST00000551404.2	37	CCDS44975.1																																																																																				0.607	MAPKAPK5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405019.2		NM_139078	
C17orf82	388407	hgsc.bcm.edu	37	17	59489427	59489427	+	Missense_Mutation	SNP	A	A	C	rs374263023		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:59489427A>C	ENST00000335108.2	+	1	316	c.91A>C	c.(91-93)Agt>Cgt	p.S31R	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	31										cervix(1)|lung(1)	2						CCCAAAATCCAGTCCCGCTTC	0.667											OREG0024630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													33.0	37.0	35.0					17																	59489427		2202	4300	6502	SO:0001583	missense	388407			BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.91A>C	17.37:g.59489427A>C	ENSP00000335229:p.Ser31Arg	1038		Missense_Mutation	SNP	ENST00000335108.2	37	CCDS11628.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.855747	0.51376	.	.	ENSG00000187013	ENST00000335108	T	0.54675	0.56	3.58	-0.0235	0.13943	.	.	.	.	.	T	0.27866	0.0686	N	0.08118	0	0.09310	N	1	P	0.39003	0.654	B	0.38225	0.268	T	0.16512	-1.0400	9	0.87932	D	0	.	3.1581	0.06511	0.5381:0.2193:0.2426:0.0	.	31	Q86X59	CQ082_HUMAN	R	31	ENSP00000335229:S31R	ENSP00000335229:S31R	S	+	1	0	C17orf82	56844209	0.000000	0.05858	0.021000	0.16686	0.561000	0.35649	0.528000	0.23002	-0.040000	0.13580	0.379000	0.24179	AGT		0.667	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449646.1		NM_203425	
C1orf52	148423	hgsc.bcm.edu;ucsc.edu	37	1	85724326	85724326	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:85724326G>A	ENST00000471115.1	-	2	364	c.356C>T	c.(355-357)cCt>cTt	p.P119L	C1orf52_ENST00000344356.5_Missense_Mutation_p.P119L|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	119							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		AAGCTCTGGAGGCGGAGGCTT	0.438																																																	0													146.0	137.0	140.0					1																	85724326		2203	4300	6503	SO:0001583	missense	148423			BC029538	CCDS703.1	1p22.3	2008-02-05			ENSG00000162642	ENSG00000162642			24871	protein-coding gene	gene with protein product						11891061	Standard	NM_198077		Approved	gm117, FLJ44982	uc001dkv.3	Q8N6N3	OTTHUMG00000009966	ENST00000471115.1:c.356C>T	1.37:g.85724326G>A	ENSP00000419417:p.Pro119Leu		B3KX89|Q8TDK5|Q8TDK6	Missense_Mutation	SNP	ENST00000471115.1	37	CCDS703.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124816	0.77436	.	.	ENSG00000162642	ENST00000471115;ENST00000344356	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.72590	0.3479	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70876	-0.4753	9	0.41790	T	0.15	-7.335	18.1683	0.89736	0.0:0.0:1.0:0.0	.	119;119	Q8N6N3-2;Q8N6N3	.;CA052_HUMAN	L	119	.	ENSP00000345092:P119L	P	-	2	0	C1orf52	85496914	1.000000	0.71417	0.671000	0.29857	0.641000	0.38312	8.782000	0.91809	2.565000	0.86533	0.655000	0.94253	CCT		0.438	C1orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027616.2		NM_198077	
C1QTNF9	338872	hgsc.bcm.edu	37	13	24895805	24895805	+	Missense_Mutation	SNP	G	G	A	rs4589405	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr13:24895805G>A	ENST00000382071.2	+	4	986	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	AL359736.1_ENST00000422229.2_5'Flank|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.V301M|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	301	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.		V -> M (in dbSNP:rs4589405). {ECO:0000269|PubMed:15057823}.			collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CGGGGATGAGGTGTGGCTGCA	0.522													G|||	397	0.0792732	0.1346	0.0893	5008	,	,		18947	0.0427		0.0795	False		,,,				2504	0.0348																0								G	MET/VAL	593,3813	252.4+/-258.8	34,525,1644	102.0	108.0	106.0		901	4.0	1.0	13	dbSNP_111	106	574,8026	152.7+/-207.2	13,548,3739	no	missense	C1QTNF9	NM_178540.3	21	47,1073,5383	AA,AG,GG		6.6744,13.4589,8.9728	probably-damaging	301/334	24895805	1167,11839	2203	4300	6503	SO:0001583	missense	338872			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.901G>A	13.37:g.24895805G>A	ENSP00000371503:p.Val301Met		A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	Missense_Mutation	SNP	ENST00000382071.2	37	CCDS9306.1	135	0.061813186813186816	44	0.08943089430894309	23	0.06353591160220995	26	0.045454545454545456	42	0.055408970976253295	g	21.6	4.177925	0.78564	0.134589	0.066744	ENSG00000240654	ENST00000382071;ENST00000332018	D;D	0.85702	-2.02;-2.02	3.96	3.96	0.45880	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	T	0.18467	0.0443	M	0.92833	3.35	0.09310	P	1.0	D	0.89917	1.0	D	0.91635	0.999	T	0.63523	-0.6618	9	0.72032	D	0.01	.	15.5078	0.75753	0.0:0.0:1.0:0.0	rs4589405;rs56934771	301	P0C862	C1T9A_HUMAN	M	301	ENSP00000371503:V301M;ENSP00000333737:V301M	ENSP00000333737:V301M	V	+	1	0	C1QTNF9	23793805	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	6.397000	0.73239	2.180000	0.69256	0.430000	0.28490	GTG		0.522	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044177.1		NM_178540	
CFC1B	653275	hgsc.bcm.edu	37	2	131279423	131279423	+	Missense_Mutation	SNP	A	A	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:131279423A>C	ENST00000281882.3	+	2	349	c.61A>C	c.(61-63)Aat>Cat	p.N21H	AC013269.3_ENST00000450486.1_RNA	NM_001079530.1	NP_001072998.1	P0CG36	CFC1B_HUMAN	cripto, FRL-1, cryptic family 1B	21					gastrulation (GO:0007369)	extracellular region (GO:0005576)						Colorectal(110;0.1)					ACAGATCATCAATTTGGGAAA	0.264																																																	0																																										SO:0001583	missense	653275				CCDS33286.1	2q21.1	2008-09-04			ENSG00000152093	ENSG00000152093			33983	protein-coding gene	gene with protein product							Standard	NM_001079530		Approved		uc002trl.2	P0CG36	OTTHUMG00000153959	ENST00000281882.3:c.61A>C	2.37:g.131279423A>C	ENSP00000281882:p.Asn21His		B2RCY0|B9EJD3|Q53T05|Q9GZR3	Missense_Mutation	SNP	ENST00000281882.3	37	CCDS33286.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.347229	0.00219	.	.	ENSG00000152093	ENST00000281882	D	0.89196	-2.48	3.41	2.47	0.30058	.	1.040440	0.07509	N	0.908622	T	0.70369	0.3216	N	0.01352	-0.895	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.64019	-0.6505	9	0.19590	T	0.45	-2.1303	7.8928	0.29688	0.3024:0.6976:0.0:0.0	.	21	P0CG36	CFC1B_HUMAN	H	21	ENSP00000281882:N21H	ENSP00000281882:N21H	N	+	1	0	CFC1B	130995893	0.001000	0.12720	0.003000	0.11579	0.057000	0.15508	0.584000	0.23864	0.914000	0.36822	-0.484000	0.04775	AAT		0.264	CFC1B-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254521.1		NM_001079530	
EGR3	1960	hgsc.bcm.edu	37	8	22550417	22550417	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:22550417C>T	ENST00000317216.2	-	1	398	c.41G>A	c.(40-42)aGc>aAc	p.S14N	EGR3_ENST00000524088.1_5'Flank|EGR3_ENST00000519492.1_Missense_Mutation_p.S14N|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_5'Flank	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	14					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|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)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TAGCAAACTGCTCATGGTCAC	0.637																																																	0													78.0	71.0	73.0					8																	22550417		2203	4300	6503	SO:0001583	missense	1960			X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.41G>A	8.37:g.22550417C>T	ENSP00000318057:p.Ser14Asn		A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	37	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.692286	0.48202	.	.	ENSG00000179388	ENST00000317216;ENST00000519492	T	0.10477	2.87	4.48	3.57	0.40892	.	0.104854	0.64402	D	0.000007	T	0.07638	0.0192	L	0.27053	0.805	0.43480	D	0.995705	B	0.13594	0.008	B	0.09377	0.004	T	0.16158	-1.0412	10	0.54805	T	0.06	-12.8844	7.6743	0.28476	0.1871:0.6317:0.1812:0.0	.	14	Q06889	EGR3_HUMAN	N	14	ENSP00000318057:S14N	ENSP00000318057:S14N	S	-	2	0	EGR3	22606362	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.837000	0.55820	1.201000	0.43203	0.484000	0.47621	AGC		0.637	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1		NM_004430	
EIF5A	1984	hgsc.bcm.edu;ucsc.edu	37	17	7213099	7213099	+	Missense_Mutation	SNP	G	G	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:7213099G>T	ENST00000336458.8	+	2	546	c.145G>T	c.(145-147)Ggc>Tgc	p.G49C	EIF5A_ENST00000336452.7_Missense_Mutation_p.G79C|EIF5A_ENST00000573542.1_Missense_Mutation_p.G49C|EIF5A_ENST00000572815.1_Missense_Mutation_p.G49C|EIF5A_ENST00000416016.2_Missense_Mutation_p.G49C|EIF5A_ENST00000419711.2_Missense_Mutation_p.G49C|EIF5A_ENST00000571955.1_Missense_Mutation_p.G49C|EIF5A_ENST00000576930.1_Missense_Mutation_p.G49C	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	49	DOHH-binding.				apoptotic process (GO:0006915)|cellular protein metabolic process (GO:0044267)|mRNA export from nucleus (GO:0006406)|nucleocytoplasmic transport (GO:0006913)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translational elongation (GO:0045901)|positive regulation of translational termination (GO:0045905)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|translational frameshifting (GO:0006452)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|translation elongation factor activity (GO:0003746)|U6 snRNA binding (GO:0017070)			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						TTCGAAGACTGGCAAGCACGG	0.542																																																	0													151.0	133.0	139.0					17																	7213099		2203	4300	6503	SO:0001583	missense	1984				CCDS11099.1, CCDS45601.1	17p13-p12	2009-05-01			ENSG00000132507	ENSG00000132507			3300	protein-coding gene	gene with protein product		600187				7759117	Standard	NM_001143760		Approved	EIF5A1, EIF-5A, MGC99547, MGC104255	uc002gfr.3	P63241	OTTHUMG00000102197	ENST00000336458.8:c.145G>T	17.37:g.7213099G>T	ENSP00000336776:p.Gly49Cys		A8K9A0|D3DTP2|P10159|Q16182|Q7L7L3|Q7Z4L1|Q9D0G2	Missense_Mutation	SNP	ENST00000336458.8	37	CCDS11099.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797387	0.90538	.	.	ENSG00000132507	ENST00000336452;ENST00000336458;ENST00000419711;ENST00000416016	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	4.55	4.55	0.56014	KOW (1);Translation protein SH3-like (1);Translation protein SH3-like, subgroup (1);	0.000000	0.64402	D	0.000002	D	0.89643	0.6774	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93370	0.6734	10	0.87932	D	0	0.1328	16.2348	0.82365	0.0:0.0:1.0:0.0	.	49;79	P63241;P63241-2	IF5A1_HUMAN;.	C	79;49;49;49	ENSP00000336702:G79C;ENSP00000336776:G49C;ENSP00000390677:G49C;ENSP00000396073:G49C	ENSP00000336702:G79C	G	+	1	0	EIF5A	7153823	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.972000	0.93424	2.380000	0.81148	0.505000	0.49811	GGC		0.542	EIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220047.3		NM_001970	
EYS	346007	hgsc.bcm.edu	37	6	64776299	64776299	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:64776299A>G	ENST00000370621.3	-	33	7183	c.6657T>C	c.(6655-6657)tcT>tcC	p.S2219S	EYS_ENST00000370616.2_Silent_p.S2219S|EYS_ENST00000503581.1_Silent_p.S2219S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2219	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						AAATATTTTGAGAATTTCCAC	0.353																																																	0													174.0	154.0	160.0					6																	64776299		692	1591	2283	SO:0001819	synonymous_variant	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6657T>C	6.37:g.64776299A>G			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	ENST00000370621.3	37																																																																																					0.353	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3		XM_294050	
FAM153A	285596	hgsc.bcm.edu	37	5	177164044	177164044	+	Splice_Site	SNP	G	G	A	rs200041092		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:177164044G>A	ENST00000440605.3	-	10	684	c.401C>T	c.(400-402)aCg>aTg	p.T134M	FAM153A_ENST00000510276.1_Splice_Site_p.T134M|FAM153A_ENST00000393518.3_Intron|FAM153A_ENST00000513554.1_Intron	NM_173663.3	NP_775934.3	Q9UHL3	F153A_HUMAN	family with sequence similarity 153, member A	134				T -> M (in Ref. 1; AAD42863, 2; BAA34472 and 3; BAF82207). {ECO:0000305}.						kidney(6)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	11	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGACTTTACCGTGTGAACTTC	0.438																																																	0													71.0	84.0	79.0					5																	177164044		2032	4124	6156	SO:0001630	splice_region_variant	285596			AB018295	CCDS34305.1	5q35.3	2010-05-12			ENSG00000170074	ENSG00000170074			29940	protein-coding gene	gene with protein product	"""NY REN 7 antigen"""					10508479, 9872452	Standard	NM_173663		Approved	NY-REN-7	uc003mic.3	Q9UHL3	OTTHUMG00000163394	ENST00000440605.3:c.402+1C>T	5.37:g.177164044G>A			A8K0F3|O94852	Missense_Mutation	SNP	ENST00000440605.3	37	CCDS34305.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.149516	0.00328	.	.	ENSG00000170074	ENST00000440977;ENST00000510276;ENST00000440605	.	.	.	0.885	-0.76	0.11041	.	.	.	.	.	T	0.09247	0.0228	N	0.01874	-0.695	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.29792	-1.0000	7	0.02654	T	1	.	1.9084	0.03282	0.3029:0.0:0.3062:0.3909	.	134	Q9UHL3	F153A_HUMAN	M	211;134;134	.	ENSP00000353887:T134M	T	-	2	0	FAM153A	177096650	0.014000	0.17966	0.000000	0.03702	0.025000	0.11179	0.040000	0.13905	-0.951000	0.03654	-1.342000	0.01247	ACG		0.438	FAM153A-022	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417242.1		NM_173663	Missense_Mutation
FAM83C	128876	hgsc.bcm.edu;ucsc.edu	37	20	33875700	33875700	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr20:33875700G>A	ENST00000374408.3	-	4	978	c.882C>T	c.(880-882)gaC>gaT	p.D294D	EIF6_ENST00000374450.3_5'Flank|FAM83C-AS1_ENST00000429167.1_RNA	NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	294										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGAACTCCCGGTCAAAGTCTT	0.667																																																	0													36.0	37.0	37.0					20																	33875700		2173	4263	6436	SO:0001819	synonymous_variant	128876			AL121753	CCDS13251.1	20q11.22	2011-04-01	2006-03-23	2006-03-23	ENSG00000125998	ENSG00000125998			16121	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 128"""	C20orf128			Standard	NM_178468		Approved	dJ614O4.7	uc021wck.1	Q9BQN1	OTTHUMG00000032332	ENST00000374408.3:c.882C>T	20.37:g.33875700G>A			Q14D67|Q5JWN6|Q8N276	Silent	SNP	ENST00000374408.3	37	CCDS13251.1																																																																																				0.667	FAM83C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078854.3			
FRMPD4	9758	hgsc.bcm.edu	37	X	12734645	12734645	+	Nonsense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:12734645C>G	ENST00000380682.1	+	15	2573	c.2067C>G	c.(2065-2067)taC>taG	p.Y689*		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	689					positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAAATCTCTACATTGGCAGTG	0.483																																																	0													149.0	157.0	154.0					X																	12734645		2203	4300	6503	SO:0001587	stop_gained	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.2067C>G	X.37:g.12734645C>G	ENSP00000370057:p.Tyr689*		A8K0X9|O15032	Nonsense_Mutation	SNP	ENST00000380682.1	37	CCDS35201.1	.	.	.	.	.	.	.	.	.	.	C	40	8.196264	0.98701	.	.	ENSG00000169933	ENST00000380682;ENST00000429478;ENST00000304087	.	.	.	5.86	3.15	0.36227	.	0.062060	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4814	0.38902	0.0:0.6509:0.0:0.3491	.	.	.	.	X	689;680;678	.	ENSP00000304583:Y678X	Y	+	3	2	FRMPD4	12644566	0.998000	0.40836	0.944000	0.38274	0.379000	0.30106	0.666000	0.25097	0.624000	0.30286	0.600000	0.82982	TAC		0.483	FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1		XM_045712	
HK1	3098	hgsc.bcm.edu	37	10	71146158	71146158	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr10:71146158C>G	ENST00000359426.6	+	13	2023	c.1919C>G	c.(1918-1920)gCg>gGg	p.A640G	HK1_ENST00000298649.3_Missense_Mutation_p.A639G|HK1_ENST00000448642.2_Missense_Mutation_p.A675G|HK1_ENST00000404387.2_Missense_Mutation_p.A644G|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Missense_Mutation_p.A628G	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	640	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTAAGGGATGCGATAAAAAGG	0.383																																																	0													88.0	78.0	82.0					10																	71146158		2203	4300	6503	SO:0001583	missense	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.1919C>G	10.37:g.71146158C>G	ENSP00000352398:p.Ala640Gly		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.694266	0.48202	.	.	ENSG00000156515	ENST00000360289;ENST00000448642;ENST00000404387;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03;-5.03	5.72	4.76	0.60689	Hexokinase, N-terminal (1);	0.102166	0.64402	D	0.000005	D	0.97990	0.9338	M	0.77406	2.37	0.51012	D	0.999905	B;B;B;B;B;B	0.25772	0.134;0.063;0.013;0.028;0.013;0.073	B;B;B;B;B;B	0.34346	0.18;0.156;0.061;0.101;0.095;0.113	D	0.97250	0.9897	10	0.62326	D	0.03	-26.0083	13.4214	0.61001	0.0:0.6789:0.3211:0.0	.	640;640;639;675;644;628	A8K7J7;P19367;P19367-2;E7ENR4;P19367-3;P19367-4	.;HXK1_HUMAN;.;.;.;.	G	628;675;644;639;640;640	ENSP00000353433:A628G;ENSP00000402103:A675G;ENSP00000384774:A644G;ENSP00000298649:A639G;ENSP00000352398:A640G	ENSP00000298649:A639G	A	+	2	0	HK1	70816164	0.897000	0.30589	0.162000	0.22713	0.898000	0.52572	1.388000	0.34442	2.694000	0.91930	0.655000	0.94253	GCG		0.383	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188	
HLA-B	3106	hgsc.bcm.edu	37	6	31323296	31323296	+	Silent	SNP	A	A	G	rs1050747	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:31323296A>G	ENST00000412585.2	-	4	721	c.693T>C	c.(691-693)ggT>ggC	p.G231G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	231	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CAGGGTAGAAACCCAGGGCCC	0.582									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				G|||	4393	0.877196	0.9107	0.889	5008	,	,		19521	0.8284		0.836	False		,,,				2504	0.9162																0								G		3873,533		1705,463,35	80.0	80.0	80.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	693	1.1	1.0	6	dbSNP_86	80	6998,1596		2868,1262,167	no	coding-synonymous	HLA-B	NM_005514.6		4573,1725,202	GG,GA,AA		18.5711,12.0971,16.3769		231/363	31323296	10871,2129	2203	4297	6500	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.693T>C	6.37:g.31323296A>G			Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.582	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514	
HMP19	51617	hgsc.bcm.edu;ucsc.edu	37	5	173534370	173534370	+	Silent	SNP	C	C	T	rs11557147		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:173534370C>T	ENST00000303177.3	+	5	640	c.378C>T	c.(376-378)ccC>ccT	p.P126P	NSG2_ENST00000521585.1_Intron|NSG2_ENST00000521959.1_3'UTR	NM_015980.4	NP_057064.1	Q9Y328	NSG2_HUMAN		126					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P126P(1)									CCCAGGACCCCAATTCCAGAA	0.592																																																	1	Substitution - coding silent(1)	lung(1)											73.0	73.0	73.0					5																	173534370		2203	4300	6503	SO:0001819	synonymous_variant	51617																														ENST00000303177.3:c.378C>T	5.37:g.173534370C>T			B2R5Y0|D3DQN0|Q9UHX8	Silent	SNP	ENST00000303177.3	37	CCDS4391.1																																																																																				0.592	NSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252966.2			
ITGAE	3682	hgsc.bcm.edu;ucsc.edu	37	17	3663516	3663516	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:3663516T>C	ENST00000263087.4	-	7	762	c.664A>G	c.(664-666)Aaa>Gaa	p.K222E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	222	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ATGAAGTCTTTGGCTCTCTGA	0.488																																					NSCLC(182;635 2928 8995 38788)												0													115.0	95.0	102.0					17																	3663516		2203	4300	6503	SO:0001583	missense	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.664A>G	17.37:g.3663516T>C	ENSP00000263087:p.Lys222Glu		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.749310	0.89753	.	.	ENSG00000083457	ENST00000263087	D	0.87887	-2.31	5.54	5.54	0.83059	von Willebrand factor, type A (3);	.	.	.	.	D	0.93693	0.7985	M	0.90977	3.165	0.45216	D	0.998223	D	0.56746	0.977	P	0.59703	0.862	D	0.94712	0.7893	9	0.66056	D	0.02	.	13.9829	0.64315	0.0:0.0:0.0:1.0	.	222	P38570	ITAE_HUMAN	E	222	ENSP00000263087:K222E	ENSP00000263087:K222E	K	-	1	0	ITGAE	3610265	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.099000	0.57755	2.254000	0.74563	0.491000	0.48974	AAA		0.488	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1		NM_002208	
KDM6B	23135	hgsc.bcm.edu	37	17	7753474	7753474	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:7753474C>A	ENST00000448097.2	+	13	3983	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	KDM6B_ENST00000254846.5_Missense_Mutation_p.L1218M			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1218					cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GATCCGGGGCCTGGCGGGCTC	0.587																																																	0													40.0	37.0	38.0					17																	7753474		2202	4300	6502	SO:0001583	missense	23135			AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.3652C>A	17.37:g.7753474C>A	ENSP00000412513:p.Leu1218Met		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37		.	.	.	.	.	.	.	.	.	.	C	13.61	2.287918	0.40494	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.80123	-1.34;-1.34	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000003	D	0.85894	0.5803	L	0.58969	1.84	0.50632	D	0.999885	P;D	0.89917	0.936;1.0	P;D	0.91635	0.903;0.999	D	0.85925	0.1448	10	0.66056	D	0.02	-9.0651	8.6683	0.34134	0.0:0.8366:0.0:0.1634	.	1218;1218	O15054;O15054-1	KDM6B_HUMAN;.	M	1218	ENSP00000254846:L1218M;ENSP00000412513:L1218M	ENSP00000254846:L1218M	L	+	1	2	KDM6B	7694199	0.957000	0.32711	1.000000	0.80357	0.870000	0.49936	1.868000	0.39509	2.717000	0.92951	0.650000	0.86243	CTG		0.587	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1		XM_043272	
KIAA0754	643314	hgsc.bcm.edu;ucsc.edu	37	1	39877885	39877885	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:39877885G>A	ENST00000530275.1	+	1	1735	c.1540G>A	c.(1540-1542)Gtc>Atc	p.V514I	MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	514										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTGAGAGGGTCACCTTCAG	0.428																																																	0													218.0	210.0	213.0					1																	39877885		1920	4137	6057	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1540G>A	1.37:g.39877885G>A	ENSP00000431179:p.Val514Ile		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	G	0.218	-1.031075	0.02029	.	.	ENSG00000255103	ENST00000530275	D	0.85629	-2.01	4.88	-6.21	0.02065	.	.	.	.	.	T	0.59088	0.2168	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.57189	-0.7854	9	0.02654	T	1	.	1.7302	0.02930	0.146:0.1907:0.2784:0.385	.	514	O94854	K0754_HUMAN	I	514	ENSP00000431179:V514I	ENSP00000431179:V514I	V	+	1	0	RP4-562N20.1	39650472	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.220000	0.09215	-1.454000	0.01926	-0.797000	0.03246	GTC		0.428	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038	
PLPPR2	64748	hgsc.bcm.edu	37	19	11473235	11473235	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:11473235A>G	ENST00000251473.5	+	7	1086	c.710A>G	c.(709-711)aAa>aGa	p.K237R	DKFZP761J1410_ENST00000591608.1_Missense_Mutation_p.K212R	NM_001170635.1|NM_022737.2	NP_001164106.1|NP_073574.2																					CGCCTGGTCAAACCCTCGCTC	0.667																																																	0													101.0	85.0	90.0					19																	11473235		2203	4300	6503	SO:0001583	missense	64748																														ENST00000251473.5:c.710A>G	19.37:g.11473235A>G	ENSP00000251473:p.Lys237Arg			Missense_Mutation	SNP	ENST00000251473.5	37	CCDS12258.1	.	.	.	.	.	.	.	.	.	.	A	35	5.447402	0.96205	.	.	ENSG00000105520	ENST00000251473	T	0.32753	1.44	5.23	5.23	0.72850	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44286	0.1286	L	0.42581	1.335	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.20207	-1.0282	10	0.13108	T	0.6	-10.3906	14.1048	0.65080	1.0:0.0:0.0:0.0	.	212;237	Q96GM1-2;Q96GM1	.;LPPR2_HUMAN	R	237	ENSP00000251473:K237R	ENSP00000251473:K237R	K	+	2	0	AC024575.1	11334235	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.708000	0.74660	1.995000	0.58328	0.459000	0.35465	AAA		0.667	DKFZP761J1410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458779.1			
KLK2	3817	hgsc.bcm.edu	37	19	51378101	51378101	+	Silent	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:51378101C>A	ENST00000325321.3	+	2	396	c.171C>A	c.(169-171)ccC>ccA	p.P57P	KLK2_ENST00000391810.2_Intron|AC037199.1_ENST00000594218.1_5'Flank|KLK2_ENST00000358049.4_Silent_p.P57P|KLK2_ENST00000597509.1_3'UTR			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	57	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		TGGTGCACCCCCAGTGGGTGC	0.587			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													67.0	56.0	59.0					19																	51378101		2203	4300	6503	SO:0001819	synonymous_variant	3817			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.171C>A	19.37:g.51378101C>A			B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Silent	SNP	ENST00000325321.3	37	CCDS12808.1																																																																																				0.587	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464438.3		NM_005551.3	
MLXIPL	51085	hgsc.bcm.edu	37	7	73020298	73020298	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr7:73020298G>C	ENST00000313375.3	-	6	809	c.762C>G	c.(760-762)gaC>gaG	p.D254E	MLXIPL_ENST00000429400.2_Missense_Mutation_p.D254E|MLXIPL_ENST00000354613.1_Missense_Mutation_p.D254E|MLXIPL_ENST00000395189.1_Intron|MLXIPL_ENST00000414749.2_Missense_Mutation_p.D254E|MLXIPL_ENST00000434326.1_Intron	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	254					anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGAAGAGAGTGTCTGAGATGT	0.632																																																	0													38.0	36.0	37.0					7																	73020298		2200	4300	6500	SO:0001583	missense	51085			AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.762C>G	7.37:g.73020298G>C	ENSP00000320886:p.Asp254Glu		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.966625	0.34659	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000456640	T;T;T;T;T	0.59364	0.82;0.91;0.81;0.92;0.27	3.62	1.78	0.24846	.	0.000000	0.85682	D	0.000000	T	0.69984	0.3172	M	0.79011	2.435	0.80722	D	1	D;D;D;D	0.61697	0.984;0.99;0.99;0.99	D;D;D;D	0.72625	0.952;0.978;0.978;0.978	T	0.67476	-0.5661	10	0.87932	D	0	-20.3088	5.6467	0.17594	0.259:0.0:0.741:0.0	.	254;254;254;254	Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	MLXPL_HUMAN;.;.;.	E	254;254;254;254;216	ENSP00000412330:D254E;ENSP00000406296:D254E;ENSP00000320886:D254E;ENSP00000346629:D254E;ENSP00000402615:D216E	ENSP00000320886:D254E	D	-	3	2	MLXIPL	72658234	1.000000	0.71417	0.759000	0.31340	0.652000	0.38707	2.077000	0.41557	0.229000	0.21039	0.313000	0.20887	GAC		0.632	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1		NM_032951	
MRPL53	116540	hgsc.bcm.edu	37	2	74699716	74699716	+	Silent	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:74699716C>T	ENST00000258105.7	-	1	733	c.72G>A	c.(70-72)gaG>gaA	p.E24E	MRPL53_ENST00000409710.1_Silent_p.E24E	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	24						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						CCACGTTTTTCTCGAAGGGAC	0.607																																																	0													115.0	104.0	107.0					2																	74699716		2203	4300	6503	SO:0001819	synonymous_variant	116540			BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.72G>A	2.37:g.74699716C>T				Silent	SNP	ENST00000258105.7	37	CCDS1944.1																																																																																				0.607	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2		NM_053050	
MUC6	4588	hgsc.bcm.edu	37	11	1017220	1017220	+	Missense_Mutation	SNP	T	T	C	rs56238842	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr11:1017220T>C	ENST00000421673.2	-	31	5631	c.5581A>G	c.(5581-5583)Aca>Gca	p.T1861A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1861	Approximate repeats.|Thr-rich.			T -> A (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCATCTGTGTGTGGGTAGGG	0.572																																																	0																																										SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5581A>G	11.37:g.1017220T>C	ENSP00000406861:p.Thr1861Ala		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	966	0.4423076923076923	208	0.42276422764227645	163	0.45027624309392267	253	0.4423076923076923	342	0.45118733509234826	t	1.529	-0.544888	0.04024	.	.	ENSG00000184956	ENST00000421673	T	0.19938	2.11	2.02	-1.33	0.09172	.	.	.	.	.	T	0.00012	0.0000	N	0.12182	0.205	0.09310	N	1	B	0.26744	0.158	B	0.35413	0.202	T	0.44065	-0.9352	9	0.06236	T	0.91	.	1.0835	0.01647	0.1339:0.1937:0.2967:0.3757	rs56238842;rs61869005	1861	Q6W4X9	MUC6_HUMAN	A	1861	ENSP00000406861:T1861A	ENSP00000406861:T1861A	T	-	1	0	MUC6	1007220	0.722000	0.28017	0.000000	0.03702	0.000000	0.00434	0.218000	0.17622	-0.285000	0.09089	-2.350000	0.00243	ACA		0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2		XM_290540	
NEB	4703	hgsc.bcm.edu;ucsc.edu	37	2	152347020	152347020	+	Missense_Mutation	SNP	C	C	A	rs139333406	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:152347020C>A	ENST00000172853.10	-	147	19742	c.19595G>T	c.(19594-19596)cGc>cTc	p.R6532L	NEB_ENST00000509223.2_Missense_Mutation_p.R301L|NEB_ENST00000397336.2_Missense_Mutation_p.R363L|NEB_ENST00000498015.2_5'Flank|NEB_ENST00000397345.3_Missense_Mutation_p.R8388L|NEB_ENST00000604864.1_Missense_Mutation_p.R8388L|RIF1_ENST00000457745.1_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.R8388L|NEB_ENST00000603639.1_Missense_Mutation_p.R8388L|NEB_ENST00000409198.1_Missense_Mutation_p.R6532L			P20929	NEBU_HUMAN	nebulin	6532	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGGCTCCGGCGCTGAGCTTG	0.502																																																	0													37.0	38.0	38.0					2																	152347020		2006	4198	6204	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19595G>T	2.37:g.152347020C>A	ENSP00000172853:p.Arg6532Leu		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.955186|3.955186	0.73902|0.73902	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000397337;ENST00000434685|ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853;ENST00000397336;ENST00000509223	.|T;T;T;T;T;T;T	.|0.07114	.|3.35;3.39;3.39;3.22;3.35;3.96;4.12	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.29716|0.29716	0.0742|0.0742	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|D;D;D;B;D;P	.|0.89917	.|0.997;0.999;0.978;0.149;1.0;0.801	.|D;D;P;B;D;P	.|0.81914	.|0.987;0.987;0.612;0.038;0.995;0.502	T|T	0.00544|0.00544	-1.1679|-1.1679	5|10	.|0.42905	.|T	.|0.14	.|.	18.7735|18.7735	0.91901|0.91901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|301;363;301;6532;2870;8388	.|B7Z6B9;B7Z6P9;B7Z6N8;P20929;Q14215;F8WCL5	.|.;.;.;NEBU_HUMAN;.;.	S|L	522;629|6532;8388;8388;2488;2870;6532;363;301	.|ENSP00000386259:R6532L;ENSP00000380505:R8388L;ENSP00000416578:R8388L;ENSP00000410961:R2870L;ENSP00000172853:R6532L;ENSP00000380497:R363L;ENSP00000427083:R301L	.|ENSP00000172853:R6532L	A|R	-|-	1|2	0|0	NEB|NEB	152055266|152055266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.252000|0.252000	0.25951|0.25951	7.425000|7.425000	0.80255|0.80255	2.526000|2.526000	0.85167|0.85167	0.462000|0.462000	0.41574|0.41574	GCC|CGC		0.502	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NIPBL	25836	hgsc.bcm.edu;ucsc.edu	37	5	37064853	37064853	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:37064853A>G	ENST00000282516.8	+	47	8773	c.8274A>G	c.(8272-8274)aaA>aaG	p.K2758K		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2758					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATGGCCGCAAACTGGTGCCTT	0.458																																																	0													85.0	80.0	82.0					5																	37064853		2203	4300	6503	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8274A>G	5.37:g.37064853A>G			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.458	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384	
NXF2	56001	hgsc.bcm.edu	37	X	101581404	101581404	+	Silent	SNP	A	A	G	rs200108909		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:101581404A>G	ENST00000372758.1	+	27	2707	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A	NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000330252.5_Silent_p.A619A|NXF2_ENST00000372757.1_Silent_p.A619A|NXF2_ENST00000395088.2_Silent_p.A619A			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	619	TAP-C. {ECO:0000255|PROSITE- ProRule:PRU00611}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|lung(2)	4						AGATCCCCGCAGAGGCCTTCA	0.517																																																	0													150.0	164.0	160.0					X																	101581404		1246	2934	4180	SO:0001819	synonymous_variant	56001			AJ277526	CCDS14497.1	Xq22.1	2011-05-25			ENSG00000185554				8072	protein-coding gene	gene with protein product	"""cancer/testis antigen 39"", ""TAP like protein 2"""	300315				11073998, 11279525	Standard	NM_022053		Approved	CT39, TAPL-2	uc004eix.4	Q9GZY0		ENST00000372758.1:c.1857A>G	X.37:g.101581404A>G			Q9BXU4|Q9NSS1|Q9NX66	Silent	SNP	ENST00000372758.1	37	CCDS14497.1																																																																																				0.517	NXF2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057618.1		NM_017809	
ORC1	4998	hgsc.bcm.edu	37	1	52849148	52849148	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:52849148C>T	ENST00000371568.3	-	13	2175	c.1957G>A	c.(1957-1959)Gcc>Acc	p.A653T	ORC1_ENST00000371566.1_Missense_Mutation_p.A653T	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	653	Necessary and sufficient for ORC complex assembly.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATTGTGTTGGCAATTGCCAGG	0.522																																																	0													84.0	79.0	81.0					1																	52849148		2203	4300	6503	SO:0001583	missense	0				CCDS566.1	1p32	2010-10-12	2010-10-12	2010-10-12	ENSG00000085840	ENSG00000085840		"""ATPases / AAA-type"""	8487	protein-coding gene	gene with protein product	"""origin recognition complex, subunit 1, S. cerevisiae, homolog-like"", ""origin recognition complex 1"", ""replication control protein 1"""	601902	"""origin recognition complex, subunit 1 (yeast homolog)-like"", ""origin recognition complex, subunit 1-like (yeast)"", ""origin recognition complex, subunit 1 homolog (S. cerevisiae)"""	ORC1L		8884289	Standard	NM_004153		Approved	HSORC1, PARC1	uc001ctu.3	Q13415	OTTHUMG00000008104	ENST00000371568.3:c.1957G>A	1.37:g.52849148C>T	ENSP00000360623:p.Ala653Thr		D3DQ34|Q13471|Q5T0F5	Missense_Mutation	SNP	ENST00000371568.3	37	CCDS566.1	.	.	.	.	.	.	.	.	.	.	C	32	5.153984	0.94645	.	.	ENSG00000085840	ENST00000371568;ENST00000371566	D;D	0.90385	-2.66;-2.66	5.65	4.68	0.58851	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.094727	0.64402	D	0.000001	D	0.94679	0.8284	M	0.73319	2.225	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94832	0.7997	10	0.87932	D	0	-16.9746	16.397	0.83610	0.0:0.8685:0.1315:0.0	.	648;653	B7Z8H0;Q13415	.;ORC1_HUMAN	T	653	ENSP00000360623:A653T;ENSP00000360621:A653T	ENSP00000360621:A653T	A	-	1	0	ORC1	52621736	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.692000	0.68256	2.826000	0.97356	0.563000	0.77884	GCC		0.522	ORC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022202.1		NM_004153	
OR2T27	403239	hgsc.bcm.edu;ucsc.edu	37	1	248813292	248813292	+	Silent	SNP	T	T	C	rs71199329	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:248813292T>C	ENST00000344889.3	-	1	893	c.894A>G	c.(892-894)acA>acG	p.T298T		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTAGGGCCCCTGTGACATCCT	0.468													t|||	437	0.0872604	0.2269	0.0519	5008	,	,		19865	0.0159		0.0586	False		,,,				2504	0.0266																0								C		324,4022		71,182,1920	70.0	72.0	72.0		894	-4.9	0.0	1	dbSNP_130	72	282,8262		35,212,4025	no	coding-synonymous	OR2T27	NM_001001824.1		106,394,5945	CC,CT,TT		3.3006,7.4551,4.7013		298/318	248813292	606,12284	2173	4272	6445	SO:0001819	synonymous_variant	403239				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.894A>G	1.37:g.248813292T>C				Silent	SNP	ENST00000344889.3	37	CCDS31124.1																																																																																				0.468	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1		NM_001001824	
OTOP1	133060	hgsc.bcm.edu	37	4	4190683	4190683	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr4:4190683G>A	ENST00000296358.4	-	6	1710	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	562					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCCAAAGGCGGGAGGTA	0.517																																																	0													48.0	51.0	50.0					4																	4190683		2202	4300	6502	SO:0001819	synonymous_variant	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.1686C>T	4.37:g.4190683G>A			A1L476	Silent	SNP	ENST00000296358.4	37	CCDS3372.1																																																																																				0.517	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2		NM_177998	
PARP4	143	hgsc.bcm.edu	37	13	25044068	25044068	+	Silent	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr13:25044068G>A	ENST00000381989.3	-	16	2115	c.2010C>T	c.(2008-2010)ttC>ttT	p.F670F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	670	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGAAGGCTTCGAAGCCACACA	0.458																																																	0													90.0	69.0	76.0					13																	25044068		2203	4300	6503	SO:0001819	synonymous_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.2010C>T	13.37:g.25044068G>A			O75903|Q14682|Q5QNZ9|Q9H1M6	Silent	SNP	ENST00000381989.3	37	CCDS9307.1																																																																																				0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1		NM_006437	
PCNX	22990	hgsc.bcm.edu;ucsc.edu	37	14	71444859	71444859	+	Missense_Mutation	SNP	C	C	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:71444859C>G	ENST00000304743.2	+	6	2251	c.1805C>G	c.(1804-1806)tCt>tGt	p.S602C	PCNX_ENST00000439984.3_Missense_Mutation_p.S602C|PCNX_ENST00000238570.5_Missense_Mutation_p.S602C	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	602	Ser-rich.					integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GACGAAGACTCTAGTGATCAG	0.458																																																	0													108.0	99.0	102.0					14																	71444859		2203	4300	6503	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1805C>G	14.37:g.71444859C>G	ENSP00000304192:p.Ser602Cys		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788422	0.31685	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.01152	5.26;5.26;5.26	5.87	5.87	0.94306	.	0.191244	0.45867	D	0.000326	T	0.06600	0.0169	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.07102	-1.0790	10	0.72032	D	0.01	.	20.207	0.98280	0.0:1.0:0.0:0.0	.	602;602;602	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	C	602	ENSP00000304192:S602C;ENSP00000238570:S602C;ENSP00000396617:S602C	ENSP00000238570:S602C	S	+	2	0	PCNX	70514612	1.000000	0.71417	0.983000	0.44433	0.098000	0.18820	5.595000	0.67563	2.779000	0.95612	0.655000	0.94253	TCT		0.458	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982	
PHGDH	26227	hgsc.bcm.edu	37	1	120277939	120277939	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:120277939T>G	ENST00000369409.4	+	7	801	c.665T>G	c.(664-666)tTt>tGt	p.F222C	PHGDH_ENST00000369407.3_Missense_Mutation_p.F188C	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	222					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GACAACACCTTTGCCCAGTGC	0.627																																																	0													127.0	131.0	129.0					1																	120277939		2203	4300	6503	SO:0001583	missense	26227			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.665T>G	1.37:g.120277939T>G	ENSP00000358417:p.Phe222Cys		B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	27.2	4.813293	0.90707	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000535091;ENST00000369407	D;D	0.83250	-1.7;-1.7	5.23	5.23	0.72850	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.91700	0.7376	M	0.92219	3.285	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.997	D	0.93682	0.6999	10	0.87932	D	0	-0.8789	13.9369	0.64029	0.0:0.0:0.0:1.0	.	94;188;188;95;222	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	C	222;95;54;188	ENSP00000358417:F222C;ENSP00000358415:F188C	ENSP00000358415:F188C	F	+	2	0	PHGDH	120079462	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.579000	0.82511	1.991000	0.58162	0.533000	0.62120	TTT		0.627	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1		NM_006623	
PHKG1	5260	hgsc.bcm.edu	37	7	56155465	56155465	+	Missense_Mutation	SNP	C	C	T	rs571114908		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr7:56155465C>T	ENST00000297373.2	-	3	282	c.88G>A	c.(88-90)Gtt>Att	p.V30I	PHKG1_ENST00000537360.1_5'UTR|PHKG1_ENST00000452681.2_Missense_Mutation_p.V30I|PHKG1_ENST00000489604.1_5'UTR	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	30	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACACTGCTAACGCCCCTGGGA	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15886	0.0		0.0	False		,,,				2504	0.0				Melanoma(184;580 2064 5329 24177 35303)												0													46.0	40.0	42.0					7																	56155465		2203	4300	6503	SO:0001583	missense	5260			X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.88G>A	7.37:g.56155465C>T	ENSP00000297373:p.Val30Ile		B7Z1D0|F5H2S1|Q75LP5	Missense_Mutation	SNP	ENST00000297373.2	37	CCDS5525.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127382	0.37533	.	.	ENSG00000164776	ENST00000452681;ENST00000297373	T;T	0.39229	3.3;1.09	5.42	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.094778	0.44483	N	0.000448	T	0.28532	0.0706	N	0.17631	0.505	0.80722	D	1	B;B;B	0.30914	0.3;0.022;0.066	B;B;B	0.27262	0.078;0.01;0.018	T	0.01993	-1.1233	10	0.17369	T	0.5	-21.4316	16.7071	0.85375	0.0:0.9304:0.0:0.0696	.	30;30;30	B7Z6U2;F5H2S1;Q16816	.;.;PHKG1_HUMAN	I	30	ENSP00000445440:V30I;ENSP00000297373:V30I	ENSP00000297373:V30I	V	-	1	0	PHKG1	56122959	0.999000	0.42202	0.845000	0.33349	0.884000	0.51177	4.062000	0.57492	0.790000	0.33803	-1.119000	0.02030	GTT		0.642	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1		NM_006213	
PPP2CA	5515	hgsc.bcm.edu;ucsc.edu	37	5	133533531	133533531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:133533531G>A	ENST00000481195.1	-	7	1142	c.862C>T	c.(862-864)Cag>Tag	p.Q288*	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	288					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	GGGTCAAACTGCAAGCTGAAA	0.428																																																	0													80.0	83.0	82.0					5																	133533531		2203	4300	6503	SO:0001587	stop_gained	5515				CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.862C>T	5.37:g.133533531G>A	ENSP00000418447:p.Gln288*		P05323|P13197	Nonsense_Mutation	SNP	ENST00000481195.1	37	CCDS4173.1	.	.	.	.	.	.	.	.	.	.	g	38	6.764526	0.97821	.	.	ENSG00000113575	ENST00000481195	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-1.1366	20.4216	0.99039	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000418447:Q288X	Q	-	1	0	PPP2CA	133561430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.370000	0.97159	2.839000	0.97877	0.580000	0.79431	CAG		0.428	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1		NM_002715	
PTPN6	5777	hgsc.bcm.edu	37	12	7061265	7061265	+	Missense_Mutation	SNP	G	G	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr12:7061265G>A	ENST00000318974.9	+	3	495	c.251G>A	c.(250-252)gGt>gAt	p.G84D	PTPN6_ENST00000456013.1_Missense_Mutation_p.G84D|PTPN6_ENST00000399448.1_Missense_Mutation_p.G86D|PTPN6_ENST00000447931.2_Missense_Mutation_p.G45D	NM_002831.5	NP_002822.2	P29350	PTN6_HUMAN	protein tyrosine phosphatase, non-receptor type 6	84	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				abortive mitotic cell cycle (GO:0033277)|apoptotic process (GO:0006915)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|natural killer cell mediated cytotoxicity (GO:0042267)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell proliferation (GO:0008285)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein dephosphorylation (GO:0006470)|regulation of B cell differentiation (GO:0045577)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|type I interferon signaling pathway (GO:0060337)	alpha-beta T cell receptor complex (GO:0042105)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CAGCAGCAGGGTGTCCTGCAG	0.572																																																	0													108.0	128.0	121.0					12																	7061265		2199	4299	6498	SO:0001583	missense	5777				CCDS41744.1, CCDS44820.1, CCDS44821.1	12p13.31	2013-02-14			ENSG00000111679	ENSG00000111679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9658	protein-coding gene	gene with protein product		176883				1639416	Standard	NM_080548		Approved	HCP, HCPH, PTP-1C, SHP-1, SHP1	uc001qsa.1	P29350	OTTHUMG00000168518	ENST00000318974.9:c.251G>A	12.37:g.7061265G>A	ENSP00000326010:p.Gly84Asp		A8K306|G3V0F8|Q969V8|Q9UK67	Missense_Mutation	SNP	ENST00000318974.9	37	CCDS44820.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605078	0.66445	.	.	ENSG00000111679	ENST00000543115;ENST00000399448;ENST00000447931;ENST00000538715;ENST00000318974;ENST00000456013;ENST00000536521;ENST00000541698;ENST00000542462	D;D;D;D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	4.68	2.74	0.32292	SH2 motif (3);	0.000000	0.85682	D	0.000000	D	0.91713	0.7380	N	0.17379	0.485	0.54753	D	0.999989	P;P;P;B;P	0.49358	0.756;0.923;0.679;0.349;0.773	B;P;B;B;B	0.48795	0.345;0.59;0.353;0.192;0.28	D	0.87407	0.2373	10	0.42905	T	0.14	.	4.8345	0.13458	0.08:0.1509:0.6125:0.1566	.	72;45;84;84;86	B4DPS0;P29350-2;G3V0F8;P29350;Q53XS4	.;.;.;PTN6_HUMAN;.	D	105;86;45;84;84;84;84;84;43	ENSP00000443393:G105D;ENSP00000382376:G86D;ENSP00000415979:G45D;ENSP00000438740:G84D;ENSP00000326010:G84D;ENSP00000391592:G84D;ENSP00000444337:G84D;ENSP00000445646:G84D;ENSP00000440114:G43D	ENSP00000326010:G84D	G	+	2	0	PTPN6	6931526	1.000000	0.71417	0.424000	0.26647	0.758000	0.43043	5.724000	0.68500	0.346000	0.23899	0.561000	0.74099	GGT		0.572	PTPN6-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400023.1		NM_002831	
RBPMS	11030	hgsc.bcm.edu;ucsc.edu	37	8	30361883	30361883	+	Silent	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:30361883A>G	ENST00000320203.4	+	5	909	c.327A>G	c.(325-327)aaA>aaG	p.K109K	RBPMS_ENST00000339877.4_Silent_p.K109K|RBPMS_ENST00000520161.1_Silent_p.K5K|RBPMS_ENST00000519647.1_Silent_p.K5K|RBPMS_ENST00000520191.1_Silent_p.K5K|RBPMS_ENST00000538486.1_Silent_p.K109K|RBPMS_ENST00000517860.1_Silent_p.K109K|RBPMS_ENST00000397323.4_Silent_p.K109K|RBPMS_ENST00000287771.5_Silent_p.K109K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	109					positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CCAAGAACAAACTCGTAGGGA	0.458																																																	0													165.0	141.0	149.0					8																	30361883		2203	4300	6503	SO:0001819	synonymous_variant	11030			D84110	CCDS6077.1, CCDS34875.1, CCDS34876.1	8p12	2013-06-07			ENSG00000157110	ENSG00000157110		"""RNA binding motif (RRM) containing"""	19097	protein-coding gene	gene with protein product		601558				8855282	Standard	NM_001008710		Approved	HERMES	uc003xib.3	Q93062	OTTHUMG00000163845	ENST00000320203.4:c.327A>G	8.37:g.30361883A>G			D3DSU9|Q92516|Q92517|Q92518|Q96J26	Silent	SNP	ENST00000320203.4	37	CCDS6077.1																																																																																				0.458	RBPMS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376357.2			
RFPL2	10739	hgsc.bcm.edu	37	22	32587023	32587023	+	Silent	SNP	C	C	G	rs55974778	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:32587023C>G	ENST00000400237.1	-	5	1808	c.873G>C	c.(871-873)acG>acC	p.T291T	RFPL2_ENST00000400236.3_Silent_p.T201T|RFPL2_ENST00000248983.4_Silent_p.T201T|RFPL2_ENST00000248980.4_Silent_p.T230T|RFPL2_ENST00000489846.1_5'UTR			O75678	RFPL2_HUMAN	ret finger protein-like 2	291	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TCAGCGGCACCGTGGTGGCAG	0.527													.|||	2424	0.484026	0.8631	0.3804	5008	,	,		19287	0.1498		0.493	False		,,,				2504	0.3804																0													45.0	68.0	60.0					22																	32587023		2203	4297	6500	SO:0001819	synonymous_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.873G>C	22.37:g.32587023C>G				Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.527	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2		NM_006605	
RLIM	51132	hgsc.bcm.edu;ucsc.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												3	Substitution - Missense(3)	prostate(2)|ovary(1)											45.0	38.0	40.0					X																	73811648		2203	4300	6503	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1		NM_016120	
SLC22A6	9356	hgsc.bcm.edu;ucsc.edu	37	11	62751128	62751128	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr11:62751128A>G	ENST00000377871.3	-	3	775	c.509T>C	c.(508-510)cTg>cCg	p.L170P	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L170P|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L170P|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L170P	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	170					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	AGCTGTCTGCAGGTAGTTCAA	0.632																																																	0													64.0	57.0	59.0					11																	62751128		2201	4298	6499	SO:0001583	missense	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.509T>C	11.37:g.62751128A>G	ENSP00000367102:p.Leu170Pro		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	ENST00000377871.3	37	CCDS31591.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.614439	0.87359	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.53	5.53	0.82687	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.079394	0.52532	D	0.000070	D	0.91496	0.7315	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.997	D	0.93817	0.7115	10	0.87932	D	0	.	13.6199	0.62130	1.0:0.0:0.0:0.0	.	170;170;170;170	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	P	170;149;170;170;170	ENSP00000353597:L170P;ENSP00000367102:L170P;ENSP00000396401:L170P;ENSP00000404441:L170P	ENSP00000353597:L170P	L	-	2	0	SLC22A6	62507704	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.767000	0.74975	2.086000	0.62901	0.528000	0.53228	CTG		0.632	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SLC35B2	347734	hgsc.bcm.edu;ucsc.edu	37	6	44224154	44224154	+	Silent	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:44224154C>T	ENST00000393812.3	-	3	428	c.285G>A	c.(283-285)gcG>gcA	p.A95A	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000538577.1_Intron|MIR4647_ENST00000583964.1_RNA	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	95					3'-phospho-5'-adenylyl sulfate transmembrane transport (GO:1902559)|3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|3'-phosphoadenosine 5'-phosphosulfate transport (GO:0046963)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity (GO:0046964)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGTTCGGGGCGCCAGGGGAA	0.607																																																	0													55.0	63.0	61.0					6																	44224154		2203	4300	6503	SO:0001819	synonymous_variant	347734			AK075456	CCDS34462.1, CCDS69127.1, CCDS75462.1, CCDS75463.1	6p12.1-p11.21	2013-07-17	2013-07-17		ENSG00000157593	ENSG00000157593		"""Solute carriers"""	16872	protein-coding gene	gene with protein product		610788	"""solute carrier family 35, member B2"""				Standard	NM_001286517		Approved	UGTrel4	uc003oxd.3	Q8TB61	OTTHUMG00000014760	ENST00000393812.3:c.285G>A	6.37:g.44224154C>T			B4DDU9|F5H7Y9|Q2VY06|Q53GA3|Q5T9W1|Q5T9W2|Q7Z2G3|Q8NBK6|Q96AR6	Silent	SNP	ENST00000393812.3	37	CCDS34462.1																																																																																				0.607	SLC35B2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040724.2			
SOX14	8403	hgsc.bcm.edu	37	3	137483860	137483860	+	Silent	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr3:137483860A>T	ENST00000306087.1	+	1	282	c.234A>T	c.(232-234)cgA>cgT	p.R78R		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	78					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			large_intestine(2)|lung(12)	14						ACAAGTACCGACCTCGGCGCA	0.612																																																	0													133.0	143.0	140.0					3																	137483860		2203	4300	6503	SO:0001819	synonymous_variant	8403			AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.234A>T	3.37:g.137483860A>T			B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	CCDS3094.1																																																																																				0.612	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1		NM_004189	
SSH2	85464	hgsc.bcm.edu;ucsc.edu	37	17	28022502	28022502	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:28022502A>T	ENST00000269033.3	-	4	402	c.251T>A	c.(250-252)cTc>cAc	p.L84H	SSH2_ENST00000540801.1_Missense_Mutation_p.L111H|SSH2_ENST00000324677.7_5'UTR|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	84					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCTGGGCGGAGTAAAATGAA	0.373																																																	0													183.0	151.0	162.0					17																	28022502		2203	4300	6503	SO:0001583	missense	85464			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.251T>A	17.37:g.28022502A>T	ENSP00000269033:p.Leu84His		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.160470	0.38119	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848;ENST00000324677	T;T	0.38560	1.13;1.13	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.85859	2.78	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.995;0.998;0.999;0.999	T	0.74343	-0.3696	10	0.87932	D	0	-12.1796	14.5917	0.68371	1.0:0.0:0.0:0.0	.	111;84;91;84;84	F5H527;Q76I76-3;G5E957;Q76I76-4;Q76I76	.;.;.;.;SSH2_HUMAN	H	84;111;84;91	ENSP00000269033:L84H;ENSP00000444743:L111H	ENSP00000269033:L84H	L	-	2	0	SSH2	25046628	1.000000	0.71417	0.998000	0.56505	0.632000	0.37999	8.290000	0.89925	2.083000	0.62718	0.528000	0.53228	CTC		0.373	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1		NM_033389	
STON1	11037	hgsc.bcm.edu;ucsc.edu	37	2	48807891	48807891	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:48807891T>C	ENST00000406226.1	+	3	314	c.119T>C	c.(118-120)cTg>cCg	p.L40P	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L40P|STON1_ENST00000404752.1_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L40P|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L40P|STON1_ENST00000309835.3_Missense_Mutation_p.L40P	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	40					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAATGGACTGAAGCTGAAC	0.463																																																	0													93.0	87.0	89.0					2																	48807891		2203	4300	6503	SO:0001583	missense	11037			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.119T>C	2.37:g.48807891T>C	ENSP00000384615:p.Leu40Pro		A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	T	17.73	3.460922	0.63513	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.26810	1.85;1.85;1.85;1.74;1.71;1.74;1.74;1.93	5.35	5.35	0.76521	.	0.128255	0.53938	D	0.000047	T	0.49253	0.1546	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.49643	-0.8918	10	0.72032	D	0.01	.	15.79	0.78350	0.0:0.0:0.0:1.0	.	40;40;40	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	P	40	ENSP00000385273:L40P;ENSP00000384615:L40P;ENSP00000310969:L40P;ENSP00000385499:L40P;ENSP00000385701:L40P;ENSP00000378236:L40P;ENSP00000311493:L40P;ENSP00000378234:L40P	ENSP00000310969:L40P	L	+	2	0	STON1-GTF2A1L;STON1	48661395	1.000000	0.71417	0.965000	0.40720	0.970000	0.65996	6.794000	0.75135	2.371000	0.80710	0.533000	0.62120	CTG		0.463	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		NM_006873	
SYT15	83849	hgsc.bcm.edu	37	10	46969312	46969312	+	Missense_Mutation	SNP	G	G	A	rs55894256	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr10:46969312G>A	ENST00000374321.4	-	2	215	c.149C>T	c.(148-150)aCa>aTa	p.T50I	SYT15_ENST00000503753.1_Missense_Mutation_p.T50I|SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374325.3_Missense_Mutation_p.T50I|RP11-38L15.3_ENST00000506914.1_RNA	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGAGGCAGCTGTGGTGGCCAT	0.642													G|||	240	0.0479233	0.0038	0.0793	5008	,	,		34618	0.0		0.1153	False		,,,				2504	0.0654				Ovarian(57;1152 1428 19651 37745)												0								G	ILE/THR,ILE/THR	65,4257		0,65,2096	36.0	47.0	43.0		149,149	0.3	0.0	10	dbSNP_129	43	869,7679		0,869,3405	yes	missense,missense	SYT15	NM_031912.4,NM_181519.2	89,89	0,934,5501	AA,AG,GG		10.1661,1.5039,7.2572	benign,benign	50/422,50/391	46969312	934,11936	2161	4274	6435	SO:0001583	missense	83849			AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.149C>T	10.37:g.46969312G>A	ENSP00000363441:p.Thr50Ile		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	CCDS44376.1	107	0.04899267399267399	3	0.006097560975609756	24	0.06629834254143646	0	0.0	80	0.10554089709762533	g	9.886	1.203012	0.22121	0.015039	0.101661	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374321	T;T;T	0.13778	2.56;2.56;2.79	4.08	0.285	0.15705	.	.	.	.	.	T	0.00178	0.0005	N	0.16478	0.41	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.08055	0.001;0.003	T	0.40384	-0.9566	9	0.34782	T	0.22	.	7.0107	0.24861	0.1047:0.3786:0.5167:0.0	rs55894256;rs61854277	50;50	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	I	50	ENSP00000363445:T50I;ENSP00000427607:T50I;ENSP00000363441:T50I	ENSP00000363441:T50I	T	-	2	0	SYT15	46389318	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.305000	0.08188	-0.039000	0.13602	0.467000	0.42956	ACA		0.642	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912	
TBC1D25	4943	hgsc.bcm.edu	37	X	48418768	48418768	+	Missense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chrX:48418768C>A	ENST00000376771.4	+	6	1813	c.1472C>A	c.(1471-1473)gCc>gAc	p.A491D	snoU13_ENST00000459609.1_RNA|TBC1D25_ENST00000537536.1_Missense_Mutation_p.A237D	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	491					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGGCCACAGCCAGTCAGGGG	0.642																																																	0													32.0	35.0	34.0					X																	48418768		2203	4297	6500	SO:0001583	missense	4943			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1472C>A	X.37:g.48418768C>A	ENSP00000365962:p.Ala491Asp		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	ENST00000376771.4	37	CCDS35242.1	.	.	.	.	.	.	.	.	.	.	C	0.113	-1.136162	0.01742	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14022	2.54;2.54	4.91	0.854	0.19007	Rab-GAP/TBC domain (1);	1.373420	0.05012	N	0.471154	T	0.06826	0.0174	N	0.03608	-0.345	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	0.36768	-0.9734	10	0.22706	T	0.39	-9.1354	9.5218	0.39140	0.1381:0.4588:0.4031:0.0	.	495;433;491	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	D	491;237	ENSP00000365962:A491D;ENSP00000444091:A237D	ENSP00000365962:A491D	A	+	2	0	TBC1D25	48303712	0.000000	0.05858	0.016000	0.15963	0.147000	0.21601	0.041000	0.13927	0.460000	0.27045	0.436000	0.28706	GCC		0.642	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060764.2		NM_002536	
TBR1	10716	hgsc.bcm.edu	37	2	162273245	162273245	+	Silent	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:162273245T>G	ENST00000389554.3	+	1	641	c.324T>G	c.(322-324)tcT>tcG	p.S108S	TBR1_ENST00000410035.1_5'Flank	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	108					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCTCCTCTCTCAGTCCAGCC	0.632																																																	0													98.0	107.0	104.0					2																	162273245		2203	4300	6503	SO:0001819	synonymous_variant	10716			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.324T>G	2.37:g.162273245T>G			B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Silent	SNP	ENST00000389554.3	37	CCDS33310.1																																																																																				0.632	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1		NM_006593	
TFEB	7942	hgsc.bcm.edu;ucsc.edu	37	6	41655521	41655521	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:41655521C>A	ENST00000230323.4	-	7	998	c.697G>T	c.(697-699)Gag>Tag	p.E233*	TFEB_ENST00000403298.4_Nonsense_Mutation_p.E233*|TFEB_ENST00000420312.1_Nonsense_Mutation_p.E148*|TFEB_ENST00000358871.2_Nonsense_Mutation_p.E247*|TFEB_ENST00000394283.1_Nonsense_Mutation_p.E233*|TFEB_ENST00000373033.1_Nonsense_Mutation_p.E233*	NM_001271945.1|NM_007162.2	NP_001258874.1|NP_009093.1	P19484	TFEB_HUMAN	transcription factor EB	233					autophagy (GO:0006914)|embryonic placenta development (GO:0001892)|humoral immune response (GO:0006959)|lysosome organization (GO:0007040)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TTCTGCCGCTCCTTGGCCAGG	0.577			T	ALPHA	renal (childhood epithelioid)																																			Dom	yes		6	6p21	7942	transcription factor EB		"""E,M"""	0													95.0	97.0	96.0					6																	41655521		2203	4300	6503	SO:0001587	stop_gained	7942			M33782	CCDS4858.1, CCDS64424.1, CCDS64425.1	6p21	2013-05-21			ENSG00000112561	ENSG00000112561		"""Basic helix-loop-helix proteins"""	11753	protein-coding gene	gene with protein product		600744				2115126	Standard	NM_007162		Approved	TCFEB, bHLHe35	uc003oqu.2	P19484	OTTHUMG00000014684	ENST00000230323.4:c.697G>T	6.37:g.41655521C>A	ENSP00000230323:p.Glu233*		Q709B3|Q7Z6P9|Q9BRJ5|Q9UJD8	Nonsense_Mutation	SNP	ENST00000230323.4	37	CCDS4858.1	.	.	.	.	.	.	.	.	.	.	C	39	7.844423	0.98522	.	.	ENSG00000112561	ENST00000406563;ENST00000343317;ENST00000230323;ENST00000358871;ENST00000403298;ENST00000420312;ENST00000373033;ENST00000394283;ENST00000419396;ENST00000416140	.	.	.	5.1	5.1	0.69264	.	0.046124	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-27.4069	18.4741	0.90785	0.0:1.0:0.0:0.0	.	.	.	.	X	91;319;233;247;233;148;233;233;233;233	.	ENSP00000230323:E233X	E	-	1	0	TFEB	41763499	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.533000	0.85409	0.557000	0.71058	GAG		0.577	TFEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040522.3			
THRAP3	9967	hgsc.bcm.edu	37	1	36755272	36755272	+	Missense_Mutation	SNP	A	A	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:36755272A>G	ENST00000354618.5	+	5	1876	c.1652A>G	c.(1651-1653)aAa>aGa	p.K551R	THRAP3_ENST00000469141.2_Missense_Mutation_p.K551R	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	551	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGGAGCGAAAGGAGATTTT	0.498			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	0													88.0	94.0	92.0					1																	36755272		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1652A>G	1.37:g.36755272A>G	ENSP00000346634:p.Lys551Arg		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	CCDS405.1	.	.	.	.	.	.	.	.	.	.	A	1.316	-0.600945	0.03744	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.14766	2.48;2.48	6.06	3.79	0.43588	.	0.216161	0.40640	N	0.001058	T	0.06826	0.0174	N	0.16478	0.41	0.39688	D	0.971008	B	0.10296	0.003	B	0.14578	0.011	T	0.13980	-1.0489	10	0.02654	T	1	-16.1802	10.3515	0.43939	0.8827:0.0:0.1173:0.0	.	551	Q9Y2W1	TR150_HUMAN	R	551	ENSP00000346634:K551R;ENSP00000433825:K551R	ENSP00000346634:K551R	K	+	2	0	THRAP3	36527859	1.000000	0.71417	1.000000	0.80357	0.284000	0.27059	2.280000	0.43443	2.324000	0.78689	0.533000	0.62120	AAA		0.498	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2		NM_005119	
TMEM131	23505	hgsc.bcm.edu;ucsc.edu	37	2	98429106	98429106	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr2:98429106A>T	ENST00000186436.5	-	16	1952	c.1724T>A	c.(1723-1725)aTt>aAt	p.I575N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	575						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTTTACCTCAATTGGATTGCT	0.294																																																	0													62.0	61.0	61.0					2																	98429106		1803	4057	5860	SO:0001583	missense	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1724T>A	2.37:g.98429106A>T	ENSP00000186436:p.Ile575Asn			Missense_Mutation	SNP	ENST00000186436.5	37	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166958	0.78339	.	.	ENSG00000075568	ENST00000186436	T	0.36340	1.26	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.59032	-0.7530	10	0.72032	D	0.01	-17.4619	14.6021	0.68447	1.0:0.0:0.0:0.0	.	575	Q92545	TM131_HUMAN	N	575	ENSP00000186436:I575N	ENSP00000186436:I575N	I	-	2	0	TMEM131	97795538	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.823000	0.86660	2.247000	0.74100	0.482000	0.46254	ATT		0.294	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2		XM_371542	
TMEM51	55092	hgsc.bcm.edu	37	1	15546034	15546034	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr1:15546034C>T	ENST00000428417.1	+	3	1003	c.557C>T	c.(556-558)cCc>cTc	p.P186L	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.P186L|TMEM51_ENST00000400796.3_Missense_Mutation_p.P186L|TMEM51_ENST00000376014.3_Missense_Mutation_p.P186L	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	186						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CCTGGGAACCCCCCTGACAGG	0.542																																																	0													61.0	69.0	66.0					1																	15546034		2203	4300	6503	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.557C>T	1.37:g.15546034C>T	ENSP00000394899:p.Pro186Leu		A8K819	Missense_Mutation	SNP	ENST00000428417.1	37	CCDS154.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638812	0.29157	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	5.53	4.63	0.57726	.	0.278140	0.41605	D	0.000859	T	0.31949	0.0813	L	0.56769	1.78	0.09310	N	0.999996	B	0.15473	0.013	B	0.09377	0.004	T	0.27640	-1.0068	10	0.62326	D	0.03	-12.7758	13.5225	0.61576	0.0:0.9248:0.0:0.0752	.	186	Q9NW97	TMM51_HUMAN	L	186	ENSP00000394899:P186L;ENSP00000365182:P186L;ENSP00000383600:P186L;ENSP00000365176:P186L	ENSP00000303666:P186L	P	+	2	0	TMEM51	15418621	0.000000	0.05858	0.021000	0.16686	0.502000	0.33828	0.548000	0.23314	1.351000	0.45789	0.555000	0.69702	CCC		0.542	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005699.3		NM_018022	
TNRC6B	23112	hgsc.bcm.edu	37	22	40719130	40719130	+	Missense_Mutation	SNP	C	C	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr22:40719130C>T	ENST00000454349.2	+	23	5598	c.5387C>T	c.(5386-5388)cCa>cTa	p.P1796L	TNRC6B_ENST00000402203.1_Missense_Mutation_p.P992L|TNRC6B_ENST00000335727.9_Missense_Mutation_p.P1686L|TNRC6B_ENST00000301923.9_Missense_Mutation_p.P992L	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1796					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TGGGGGCCCCCAAACTATTCT	0.602																																																	0													23.0	25.0	24.0					22																	40719130		1860	4104	5964	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.5387C>T	22.37:g.40719130C>T	ENSP00000401946:p.Pro1796Leu		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301159	0.81136	.	.	ENSG00000100354	ENST00000301923;ENST00000402203;ENST00000454349;ENST00000400140;ENST00000335727	T;T;T;T	0.34275	1.37;1.37;2.59;2.6	5.97	5.97	0.96955	.	0.174335	0.51477	D	0.000086	T	0.60779	0.2295	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.995;0.969	D;D;P	0.78314	0.991;0.944;0.821	T	0.57797	-0.7749	10	0.56958	D	0.05	-6.4168	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1796;1686;992	Q9UPQ9;Q9UPQ9-1;Q9UPQ9-2	TNR6B_HUMAN;.;.	L	992;992;1796;1686;1686	ENSP00000306759:P992L;ENSP00000384795:P992L;ENSP00000401946:P1796L;ENSP00000338371:P1686L	ENSP00000306759:P992L	P	+	2	0	TNRC6B	39049076	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.491000	0.60326	2.828000	0.97474	0.655000	0.94253	CCA		0.602	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				
TRIM73	375593	hgsc.bcm.edu	37	7	75033015	75033015	+	Nonsense_Mutation	SNP	C	C	T	rs199982097		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr7:75033015C>T	ENST00000437796.1	+	2	506	c.487C>T	c.(487-489)Cga>Tga	p.R163*	TRIM73_ENST00000430211.1_Nonsense_Mutation_p.R163*|TRIM73_ENST00000450434.1_Nonsense_Mutation_p.R32*|TRIM73_ENST00000323819.3_Nonsense_Mutation_p.R163*|TRIM73_ENST00000447409.2_Nonsense_Mutation_p.R163*			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	163						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.R163*(2)		endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AAACCGGACCCGAATCGTCGT	0.562																																																	2	Substitution - Nonsense(2)	large_intestine(2)																																								SO:0001587	stop_gained	375593			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.487C>T	7.37:g.75033015C>T	ENSP00000417040:p.Arg163*		Q8N0S3	Nonsense_Mutation	SNP	ENST00000437796.1	37	CCDS34665.1	111	0.050824175824175824	65	0.13211382113821138	17	0.04696132596685083	1	0.0017482517482517483	28	0.036939313984168866	C	24.4	4.523034	0.85600	.	.	ENSG00000178809	ENST00000450434;ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	.	.	.	2.64	2.64	0.31445	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.09310	P	0.9999999999999825	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	12.8686	0.57953	0.0:1.0:0.0:0.0	.	.	.	.	X	32;163;163;163;163	.	ENSP00000318615:R163X	R	+	1	2	TRIM73	74870951	1.000000	0.71417	0.993000	0.49108	0.679000	0.39708	2.995000	0.49441	1.793000	0.52555	0.400000	0.26472	CGA		0.562	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1			
TXNDC5	81567	hgsc.bcm.edu;ucsc.edu	37	6	7904905	7904905	+	Missense_Mutation	SNP	T	T	G			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr6:7904905T>G	ENST00000379757.4	-	2	352	c.315A>C	c.(313-315)aaA>aaC	p.K105N	TXNDC5_ENST00000473453.1_5'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.K33N|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	105	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGCTGTTGTATTTGTCTCCCA	0.567																																					Ovarian(119;1430 1625 3928 26125 34589)												0													173.0	128.0	143.0					6																	7904905		2203	4300	6503	SO:0001583	missense	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.315A>C	6.37:g.7904905T>G	ENSP00000369081:p.Lys105Asn		B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	ENST00000379757.4	37	CCDS4505.1	.	.	.	.	.	.	.	.	.	.	.	13.77	2.335639	0.41398	.	.	ENSG00000239264	ENST00000539054;ENST00000379757	T;T	0.03635	3.86;3.86	5.18	3.09	0.35607	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.06508	0.0167	M	0.72479	2.2	0.47737	D	0.999504	D;D	0.89917	0.992;1.0	D;D	0.97110	0.954;1.0	T	0.26292	-1.0107	10	0.32370	T	0.25	.	6.6185	0.22790	0.0:0.6357:0.0:0.3643	.	33;105	Q86UY0;Q8NBS9	.;TXND5_HUMAN	N	33;105	ENSP00000442453:K33N;ENSP00000369081:K105N	ENSP00000442453:K33N	K	-	3	2	TXNDC5	7849904	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	1.356000	0.34079	1.133000	0.42147	-0.477000	0.04895	AAA		0.567	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1		NM_030810	
UGT3A1	133688	hgsc.bcm.edu	37	5	35965615	35965615	+	Missense_Mutation	SNP	T	T	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr5:35965615T>C	ENST00000274278.3	-	4	1073	c.716A>G	c.(715-717)cAt>cGt	p.H239R	UGT3A1_ENST00000503189.1_Missense_Mutation_p.H239R|UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000333811.4_Missense_Mutation_p.H185R|UGT3A1_ENST00000507113.1_Missense_Mutation_p.H205R	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	239						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTAGAAGATGAGACAAAAC	0.448																																																	0													118.0	122.0	120.0					5																	35965615		2203	4300	6503	SO:0001583	missense	133688				CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.716A>G	5.37:g.35965615T>C	ENSP00000274278:p.His239Arg		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	T	10.71	1.427458	0.25726	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113;ENST00000333811	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	3.05	1.78	0.24846	.	0.580480	0.15513	N	0.258425	T	0.63686	0.2532	M	0.75264	2.295	0.23542	N	0.997456	P;B;B;B	0.51057	0.941;0.257;0.13;0.156	P;B;B;B	0.51016	0.656;0.216;0.064;0.216	T	0.56044	-0.8044	10	0.87932	D	0	.	8.5009	0.33156	0.0:0.0:0.1973:0.8027	.	205;239;185;239	E9PD17;B7Z8Q8;G5E961;Q6NUS8	.;.;.;UD3A1_HUMAN	R	239;239;205;185	ENSP00000274278:H239R;ENSP00000427079:H239R;ENSP00000426100:H205R;ENSP00000328033:H185R	ENSP00000274278:H239R	H	-	2	0	UGT3A1	36001372	0.602000	0.26916	0.968000	0.41197	0.556000	0.35491	1.154000	0.31688	0.305000	0.22832	0.260000	0.18958	CAT		0.448	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2		NM_152404	
WARS	7453	hgsc.bcm.edu	37	14	100801317	100801317	+	Silent	SNP	A	A	C	rs201020165		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr14:100801317A>C	ENST00000355338.2	-	11	1929	c.1311T>G	c.(1309-1311)gtT>gtG	p.V437V	WARS_ENST00000556645.1_Silent_p.V396V|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000344102.5_Silent_p.V396V|WARS_ENST00000557135.1_Silent_p.V437V|WARS_ENST00000392882.2_Silent_p.V437V|WARS_ENST00000358655.4_Silent_p.V396V	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	437					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AGGGCTGCAGAACCTCTATGA	0.582																																																	0													118.0	96.0	103.0					14																	100801317		2203	4300	6503	SO:0001819	synonymous_variant	7453			M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.1311T>G	14.37:g.100801317A>C			A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	CCDS9960.1																																																																																				0.582	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1		NM_004184	
WWP2	11060	hgsc.bcm.edu	37	16	69964089	69964089	+	Missense_Mutation	SNP	G	G	C			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr16:69964089G>C	ENST00000359154.2	+	13	1474	c.1373G>C	c.(1372-1374)gGg>gCg	p.G458A	WWP2_ENST00000542271.1_Missense_Mutation_p.G342A|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Missense_Mutation_p.G458A|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000568684.1_Missense_Mutation_p.G19A|WWP2_ENST00000356003.2_Missense_Mutation_p.G458A	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	458	WW 4. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAGCGAGGGGGTGCGATAC	0.572											OREG0023910	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													70.0	68.0	69.0					16																	69964089		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1373G>C	16.37:g.69964089G>C	ENSP00000352069:p.Gly458Ala	1118	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495510	0.85069	.	.	ENSG00000198373	ENST00000359154;ENST00000545099;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.51	5.52	5.52	0.82312	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.98194	0.9403	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99063	1.0831	9	.	.	.	.	19.4505	0.94865	0.0:0.0:1.0:0.0	.	458	O00308	WWP2_HUMAN	A	458;19;458;458;345;342	ENSP00000352069:G458A;ENSP00000396871:G458A;ENSP00000348283:G458A;ENSP00000445616:G342A	.	G	+	2	0	WWP2	68521590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.597000	0.87782	0.655000	0.94253	GGG		0.572	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1		NM_007014	
ZNF121	7675	hgsc.bcm.edu;ucsc.edu	37	19	9676687	9676687	+	Missense_Mutation	SNP	A	A	T			TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:9676687A>T	ENST00000586602.1	-	6	1518	c.1102T>A	c.(1102-1104)Tat>Aat	p.Y368N	ZNF121_ENST00000320451.6_Missense_Mutation_p.Y368N			P58317	ZN121_HUMAN	zinc finger protein 121	368					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(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TTACATATATAGGGTTTCTCT	0.353																																																	0													57.0	57.0	57.0					19																	9676687		2203	4300	6503	SO:0001583	missense	7675			M99593	CCDS32902.1	19p13.2	2013-01-08	2006-08-22			ENSG00000197961		"""Zinc fingers, C2H2-type"""	12904	protein-coding gene	gene with protein product		194628	"""zinc finger protein 121 (clone ZHC32)"""	D19S204		8468057	Standard	NM_001008727		Approved	ZHC32, ZNF20	uc010xkp.1	P58317		ENST00000586602.1:c.1102T>A	19.37:g.9676687A>T	ENSP00000468643:p.Tyr368Asn			Missense_Mutation	SNP	ENST00000586602.1	37		.	.	.	.	.	.	.	.	.	.	A	12.78	2.040799	0.35989	.	.	ENSG00000197961	ENST00000320451	T	0.25749	1.78	1.3	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58337	0.2115	H	0.96208	3.785	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44452	-0.9327	9	0.87932	D	0	.	6.6906	0.23169	1.0:0.0:0.0:0.0	.	368	P58317	ZN121_HUMAN	N	368	ENSP00000326967:Y368N	ENSP00000326967:Y368N	Y	-	1	0	ZNF121	9537687	0.002000	0.14202	0.123000	0.21794	0.254000	0.26022	1.830000	0.39131	0.853000	0.35312	0.402000	0.26972	TAT		0.353	ZNF121-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000449910.1		NM_001008727	
ZNF286B	729288	hgsc.bcm.edu;ucsc.edu	37	17	18584142	18584142	+	Splice_Site	SNP	A	A	G	rs116808485	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr17:18584142A>G	ENST00000545289.1	-	3	288	c.38T>C	c.(37-39)gTt>gCt	p.V13A	ZNF286B_ENST00000285274.5_Splice_Site_p.V13A	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	13					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)			endometrium(1)|lung(1)	2						GGAAGACAGAACTAACGACAA	0.473																																																	0													116.0	118.0	118.0					17																	18584142		692	1591	2283	SO:0001630	splice_region_variant	729288				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.38-1T>C	17.37:g.18584142A>G				Missense_Mutation	SNP	ENST00000545289.1	37	CCDS58523.1																																																																																				0.473	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			XM_001723047	Missense_Mutation
ZNF468	90333	hgsc.bcm.edu;ucsc.edu	37	19	53345095	53345095	+	Missense_Mutation	SNP	G	G	A	rs61729939	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:53345095G>A	ENST00000595646.1	-	4	572	c.452C>T	c.(451-453)cCg>cTg	p.P151L	ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.P98L|ZNF468_ENST00000396409.4_Missense_Mutation_p.P98L|ZNF28_ENST00000594602.1_Intron			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	151					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(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		AAATATGTGCGGTTCAGGCAG	0.423													-|||	553	0.110423	0.1014	0.134	5008	,	,		20601	0.0496		0.16	False		,,,				2504	0.1176																0								G	LEU/PRO,LEU/PRO	449,3957	781.6+/-414.5	24,401,1778	178.0	172.0	174.0		452,293	0.6	0.0	19	dbSNP_129	174	1360,7240	751.9+/-407.4	103,1154,3043	no	missense,missense	ZNF468	NM_001008801.1,NM_199132.1	98,98	127,1555,4821	AA,AG,GG		15.814,10.1906,13.909	benign,benign	151/523,98/470	53345095	1809,11197	2203	4300	6503	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.452C>T	19.37:g.53345095G>A	ENSP00000470381:p.Pro151Leu		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	ENST00000595646.1	37	CCDS33094.1	206	0.09432234432234432	29	0.05894308943089431	38	0.10497237569060773	28	0.04895104895104895	111	0.14643799472295516	a	0.004	-2.301757	0.00243	0.101906	0.15814	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651	T;T	0.04406	3.63;3.63	1.71	0.63	0.17693	.	.	.	.	.	T	0.00012	0.0000	N	0.00138	-2.015	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.43426	-0.9392	8	0.06365	T	0.9	.	3.5663	0.07901	0.7785:0.0:0.2214:0.0	.	151	Q5VIY5	ZN468_HUMAN	L	151;98;98	ENSP00000379690:P98L;ENSP00000445669:P98L	ENSP00000243639:P151L	P	-	2	0	ZNF468	58036907	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.320000	0.08028	0.125000	0.18397	-1.197000	0.01672	CCG		0.423	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1		NM_001008801	
ZNF417	147687	hgsc.bcm.edu	37	19	58421128	58421128	+	Missense_Mutation	SNP	C	C	T	rs201944488	byFrequency	TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr19:58421128C>T	ENST00000312026.5	-	3	682	c.518G>A	c.(517-519)cGc>cAc	p.R173H	ZNF417_ENST00000595559.1_Missense_Mutation_p.R172H|ZNF417_ENST00000536263.1_5'UTR|CTD-2583A14.9_ENST00000602124.1_Intron	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	173				R -> H (in Ref. 3; AAH25783). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCCAAACTCGCGGAAGACAAA	0.478													c|||	1646	0.328674	0.2496	0.3069	5008	,	,		19752	0.3631		0.3708	False		,,,				2504	0.3722																0								C	HIS/ARG	938,2814		296,346,1234	50.0	52.0	51.0		518	-3.3	0.0	19	dbSNP_134	51	3014,4976		1034,946,2015	no	missense	ZNF417	NM_152475.2	29	1330,1292,3249	TT,TC,CC		37.7222,25.0,33.657	benign	173/576	58421128	3952,7790	1876	3995	5871	SO:0001583	missense	147687			BC025783	CCDS12965.1, CCDS74469.1	19q13.43	2013-01-08				ENSG00000173480		"""Zinc fingers, C2H2-type"", ""-"""	20646	protein-coding gene	gene with protein product							Standard	NM_152475		Approved	MGC34079	uc002qqq.3	Q8TAU3		ENST00000312026.5:c.518G>A	19.37:g.58421128C>T	ENSP00000311319:p.Arg173His		B4DEU1	Missense_Mutation	SNP	ENST00000312026.5	37	CCDS12965.1	554	0.25366300366300365	111	0.22560975609756098	90	0.24861878453038674	138	0.24125874125874125	215	0.2836411609498681	.	0.284	-0.984691	0.02180	0.25	0.377222	ENSG00000173480	ENST00000312026	T	0.06294	3.32	1.86	-3.31	0.04988	.	.	.	.	.	T	0.00012	0.0000	N	0.16201	0.385	0.53688	P	2.999999999997449E-5	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.47086	-0.9144	8	0.41790	T	0.15	.	7.2829	0.26322	0.0:0.4727:0.0:0.5273	.	173;173	F5H0M9;Q8TAU3	.;ZN417_HUMAN	H	173	ENSP00000311319:R173H	ENSP00000311319:R173H	R	-	2	0	ZNF417	63112940	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.558000	0.05978	-0.695000	0.05105	-2.164000	0.00325	CGC		0.478	ZNF417-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466860.1		NM_152475	
ZNF596	169270	hgsc.bcm.edu;ucsc.edu	37	8	195934	195934	+	Missense_Mutation	SNP	C	C	T	rs188238096		TCGA-AK-3454-01A-02D-1361-10	TCGA-AK-3454-10A-01D-1361-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	ce4fe755-1381-4c6d-a2a4-5cdefe317aa8	f9afd382-cf74-4984-88a6-d035d83dd2d6	g.chr8:195934C>T	ENST00000398612.1	+	6	1470	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	ZNF596_ENST00000308811.4_Missense_Mutation_p.H363Y|ZNF596_ENST00000320552.2_Missense_Mutation_p.H293Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	363					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		AGAGAAACCACATGGATGTCA	0.413																																																	0													87.0	92.0	90.0					8																	195934		2203	4300	6503	SO:0001583	missense	169270			BC026190	CCDS5951.2	8p23.3	2013-01-08			ENSG00000172748	ENSG00000172748		"""Zinc fingers, C2H2-type"", ""-"""	27268	protein-coding gene	gene with protein product						12477932	Standard	NM_001287256		Approved		uc003wot.3	Q8TC21	OTTHUMG00000086931	ENST00000398612.1:c.1087C>T	8.37:g.195934C>T	ENSP00000381613:p.His363Tyr		B2R8P4|O95015|Q8N9X0	Missense_Mutation	SNP	ENST00000398612.1	37	CCDS5951.2	82	0.037545787545787544	29	0.05894308943089431	3	0.008287292817679558	18	0.03146853146853147	32	0.04221635883905013	.	0.434	-0.902091	0.02453	.	.	ENSG00000172748	ENST00000308811;ENST00000320552;ENST00000398612	T;T;T	0.14144	2.53;2.53;2.53	2.53	-0.126	0.13515	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00300	0.0009	N	0.00358	-1.6	0.21220	N	0.999759	B	0.06786	0.001	B	0.01281	0.0	T	0.41070	-0.9529	9	0.02654	T	1	.	5.6535	0.17631	0.0:0.3386:0.0:0.6614	.	363	Q8TC21	ZN596_HUMAN	Y	363;293;363	ENSP00000310033:H363Y;ENSP00000318719:H293Y;ENSP00000381613:H363Y	ENSP00000310033:H363Y	H	+	1	0	ZNF596	185934	0.048000	0.20356	0.995000	0.50966	0.986000	0.74619	2.679000	0.46909	-0.033000	0.13736	0.591000	0.81541	CAT		0.413	ZNF596-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195858.4		NM_173539	
