#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_default_gene_name	i_deletion_substructures	i_domain	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_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADCY6	112	genome.wustl.edu	37	12	49165635	49165635	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:49165635A>G	ENST00000307885.4	-	18	3603	c.2909T>C	c.(2908-2910)cTc>cCc	p.L970P	ADCY6_ENST00000552090.1_5'Flank|MIR4701_ENST00000583094.1_RNA|ADCY6_ENST00000550422.1_Missense_Mutation_p.L917P|ADCY6_ENST00000357869.3_Missense_Mutation_p.L917P	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	970					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|dopamine receptor signaling pathway (GO:0007212)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of neuron projection development (GO:0010977)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGATAGTAGAGTTCATCATT	0.547																																																	0													112.0	90.0	98.0					12																	49165635		2203	4300	6503	SO:0001583	missense	112				CCDS8767.1, CCDS8768.1	12q12-q13	2013-02-04				ENSG00000174233	4.6.1.1	"""Adenylate cyclases"""	237	protein-coding gene	gene with protein product		600294					Standard	NM_015270		Approved	AC6	uc001rsh.4	O43306		ENST00000307885.4:c.2909T>C	12.37:g.49165635A>G	ENSP00000311405:p.Leu970Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR75|Q9UDB0	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L970P	ENST00000307885.4	37	c.2909	CCDS8767.1	12	.	.	.	.	.	.	.	.	.	.	A	27.2	4.808665	0.90707	.	.	ENSG00000174233	ENST00000357869;ENST00000550422;ENST00000307885	D;D;D	0.84223	-1.77;-1.77;-1.82	5.85	5.85	0.93711	Adenylyl cyclase class-3/4/guanylyl cyclase (2);	0.000000	0.64402	D	0.000002	D	0.93432	0.7905	M	0.89287	3.02	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94433	0.7651	10	0.87932	D	0	.	15.5289	0.75936	1.0:0.0:0.0:0.0	.	201;917;970	B4DG74;O43306-2;O43306	.;.;ADCY6_HUMAN	P	917;917;970	ENSP00000350536:L917P;ENSP00000446730:L917P;ENSP00000311405:L970P	ENSP00000311405:L970P	L	-	2	0	ADCY6	47451902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.329000	0.96413	2.371000	0.80710	0.533000	0.62120	CTC	ADCY6	-	smart_A/G_cyclase		0.547	ADCY6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY6	HGNC	protein_coding	OTTHUMT00000408863.1	A	NM_020983		49165635	-1	no_errors	ENST00000307885	ensembl	human	known	70_37	missense	SNP	1.000	G
AHCTF1	25909	genome.wustl.edu	37	1	247079513	247079514	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:247079513_247079514insA	ENST00000391829.2	-	3	428_429	c.305_306insT	c.(304-306)gaafs	p.E102fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.E111fs|AHCTF1_ENST00000366508.1_Frame_Shift_Ins_p.E137fs			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	102	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAACACTCCCTTCTGTTTCTTC	0.391																																					Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001589	frameshift_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.305_306insT	1.37:g.247079513_247079514insA	ENSP00000375705:p.Glu102fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Frame_Shift_Ins	INS	superfamily_Quinonprotein_ADH-like	p.E111fs	ENST00000391829.2	37	c.333_332		1																																																																																			AHCTF1	-	superfamily_Quinonprotein_ADH-like		0.391	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		-	NM_015446		247079514	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	A
AKR1C2	1646	genome.wustl.edu	37	10	5032037	5032037	+	3'UTR	SNP	C	C	T	rs1138758		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:5032037C>T	ENST00000380753.4	-	0	1310				AKR1C2_ENST00000407674.1_3'UTR|AKR1C2_ENST00000421196.3_3'UTR	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2						cellular response to jasmonic acid stimulus (GO:0071395)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway (GO:0007186)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|response to prostaglandin (GO:0034694)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)	alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|bile acid binding (GO:0032052)|carboxylic acid binding (GO:0031406)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin F receptor activity (GO:0004958)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					Ursodeoxycholic acid(DB01586)	CTTTCTTTTCCGGCCGATGGG	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	1646			L32592	CCDS7062.1, CCDS44350.1	10p15-p14	2014-01-29	2012-12-04		ENSG00000151632	ENSG00000151632	1.3.1.20, 1.1.1.213	"""Aldo-keto reductases"""	385	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III"""	600450	"""aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III)"", ""testicular 17,20-desmolase deficiency"""	DDH2, TDD		9716498, 21802064	Standard	NM_001354		Approved	DD, BABP, DD2, HAKRD, MCDR2	uc001iht.3	P52895	OTTHUMG00000017584	ENST00000380753.4:c.*151G>A	10.37:g.5032037C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2N9|B4DKR9|Q14133|Q5SR16|Q7M4N1|Q96A71	RNA	SNP	-	NULL	ENST00000380753.4	37	NULL	CCDS7062.1	10																																																																																			AKR1C2	-	-		0.413	AKR1C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1C2	HGNC	protein_coding	OTTHUMT00000046531.1	C	NM_001354		5032037	-1	no_errors	ENST00000460124	ensembl	human	known	70_37	rna	SNP	0.000	T
ANKRD20A5P	440482	genome.wustl.edu	37	18	14184206	14184206	+	RNA	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:14184206G>A	ENST00000581935.1	+	0	895							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						GAATGCAAATGCAAATAATTT	0.269																																																	0																																												440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184206G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1B6	RNA	SNP	-	NULL	ENST00000581935.1	37	NULL		18																																																																																			ANKRD20A5P	-	-		0.269	ANKRD20A5P-002	KNOWN	basic	processed_transcript	ANKRD20A5P	HGNC	pseudogene	OTTHUMT00000442833.1	G			14184206	+1	no_errors	ENST00000581935	ensembl	human	known	70_37	rna	SNP	0.003	A
ANKRD36C	400986	genome.wustl.edu	37	2	96549927	96549927	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:96549927C>T	ENST00000456556.1	-	54	3343	c.3259G>A	c.(3259-3261)Ggg>Agg	p.G1087R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.G338R|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.G508R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.G114R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1087							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTACCTGTCCCAGATTTTTCT	0.363																																																	0																																										SO:0001583	missense	400986			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3259G>A	2.37:g.96549927C>T	ENSP00000403302:p.Gly1087Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1087R	ENST00000456556.1	37	c.3259		2	.	.	.	.	.	.	.	.	.	.	c	6.333	0.429591	0.11987	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039;ENST00000295246	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	1.36	-1.64	0.08318	.	.	.	.	.	T	0.62344	0.2420	L	0.39147	1.195	0.09310	N	1	B	0.28552	0.215	B	0.26770	0.073	T	0.53422	-0.8441	9	0.66056	D	0.02	.	1.4181	0.02306	0.3221:0.2527:0.0:0.4252	.	1087	Q5JPF3	AN36C_HUMAN	R	338;1087;114;508	ENSP00000415231:G338R;ENSP00000403302:G1087R;ENSP00000407838:G114R;ENSP00000295246:G508R	ENSP00000295246:G508R	G	-	1	0	AC073995.2	95913654	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.085000	0.14912	-0.436000	0.07254	-0.552000	0.04208	GGG	ANKRD36C	-	NULL		0.363	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	C	NM_001010914		96549927	-1	no_errors	ENST00000456556	ensembl	human	known	70_37	missense	SNP	0.000	T
BCL11B	64919	genome.wustl.edu	37	14	99640539	99640539	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:99640539G>A	ENST00000357195.3	-	4	2643	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	BCL11B_ENST00000345514.2_Silent_p.G807G|BCL11B_ENST00000443726.2_Silent_p.G684G	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	878					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCAAGTGCTCGCCGTGCCACT	0.617			T	TLX3	T-ALL																																			Dom	yes		14	14q32.1	64919	B-cell CLL/lymphoma 11B  (CTIP2)		L	0													93.0	76.0	82.0					14																	99640539		2203	4300	6503	SO:0001819	synonymous_variant	64919			AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2634C>T	14.37:g.99640539G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H162	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G878	ENST00000357195.3	37	c.2634	CCDS9950.1	14																																																																																			BCL11B	-	NULL		0.617	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL11B	HGNC	protein_coding	OTTHUMT00000072332.2	G	NM_138576		99640539	-1	no_errors	ENST00000357195	ensembl	human	known	70_37	silent	SNP	1.000	A
BCL3	602	genome.wustl.edu	37	19	45262839	45262839	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:45262839G>A	ENST00000164227.5	+	9	1576	c.1332G>A	c.(1330-1332)ccG>ccA	p.P444P		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	444	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTGGCCGGCCGGTGCCCCCCT	0.682			T	IGH@	CLL																																			Dom	yes		19	19q13	602	B-cell CLL/lymphoma 3		L	0													32.0	41.0	38.0					19																	45262839		2200	4292	6492	SO:0001819	synonymous_variant	602			M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1332G>A	19.37:g.45262839G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.P444	ENST00000164227.5	37	c.1332	CCDS12642.2	19																																																																																			BCL3	-	NULL		0.682	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL3	HGNC	protein_coding	OTTHUMT00000322976.1	G	NM_005178		45262839	+1	no_errors	ENST00000164227	ensembl	human	known	70_37	silent	SNP	0.173	A
C7	730	genome.wustl.edu	37	5	40964939	40964939	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:40964939G>A	ENST00000313164.9	+	14	2205	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	616	CCP 2.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ATGTGGAGAAGATTTACGGTG	0.403																																																	0													163.0	162.0	162.0					5																	40964939		1989	4161	6150	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1846G>A	5.37:g.40964939G>A	ENSP00000322061:p.Asp616Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D616N	ENST00000313164.9	37	c.1846	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894517	0.52121	.	.	ENSG00000112936	ENST00000313164;ENST00000440677	T	0.63913	-0.07	6.04	4.28	0.50868	Complement control module (2);Sushi/SCR/CCP (3);	0.172593	0.50627	D	0.000102	T	0.47764	0.1463	L	0.28344	0.845	0.29214	N	0.874415	B	0.20550	0.046	B	0.20184	0.028	T	0.38499	-0.9658	10	0.26408	T	0.33	-22.4408	12.4776	0.55823	0.166:0.0:0.834:0.0	.	616	P10643	CO7_HUMAN	N	616;456	ENSP00000322061:D616N	ENSP00000322061:D616N	D	+	1	0	C7	41000696	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.963000	0.40452	0.904000	0.36572	0.563000	0.77884	GAT	C7	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	G			40964939	+1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	0.998	A
CACNA2D4	93589	genome.wustl.edu	37	12	1995484	1995484	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:1995484C>T	ENST00000382722.5	-	8	1260	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.G236S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.G300S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.G236S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.G300S|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	300	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TTCATACTGCCGCTCACGTCC	0.488																																					Colon(2;101 179 21030 23310 28141)												0													126.0	123.0	124.0					12																	1995484		2096	4225	6321	SO:0001583	missense	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.898G>A	12.37:g.1995484C>T	ENSP00000372169:p.Gly300Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G300S	ENST00000382722.5	37	c.898	CCDS44785.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.546022	0.96488	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.19938	2.11	5.17	5.17	0.71159	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.53613	-0.8414	10	0.62326	D	0.03	.	18.6838	0.91557	0.0:1.0:0.0:0.0	.	300	Q7Z3S7	CA2D4_HUMAN	S	236;300;300	ENSP00000372169:G300S	ENSP00000280663:G300S	G	-	1	0	CACNA2D4	1865745	1.000000	0.71417	0.944000	0.38274	0.983000	0.72400	7.650000	0.83521	2.419000	0.82065	0.655000	0.94253	GGC	CACNA2D4	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	CACNA2D4	HGNC	protein_coding	OTTHUMT00000398230.2	C			1995484	-1	no_errors	ENST00000382722	ensembl	human	known	70_37	missense	SNP	1.000	T
CDKN1A	1026	genome.wustl.edu	37	6	36652134	36652134	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:36652134C>T	ENST00000405375.1	+	2	491	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R120W|CDKN1A_ENST00000244741.5_Missense_Mutation_p.R86W|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R86W	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	86					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CCGGCGAGGCCGGGATGAGTT	0.657																																																	1	Substitution - Missense(1)	lung(1)											26.0	26.0	26.0					6																	36652134		2203	4300	6503	SO:0001583	missense	1026			U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	ENST00000405375.1:c.256C>T	6.37:g.36652134C>T	ENSP00000384849:p.Arg86Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	pfam_CDI	p.R120W	ENST00000405375.1	37	c.358	CCDS4824.1	6	.	.	.	.	.	.	.	.	.	.	C	5.771	0.326696	0.10900	.	.	ENSG00000124762	ENST00000448526;ENST00000244741;ENST00000405375;ENST00000373711	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.16	-1.7	0.08159	.	1.118360	0.06876	N	0.801660	T	0.24736	0.0600	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22080	0.064;0.035;0.02	B;B;B	0.12837	0.008;0.005;0.005	T	0.21655	-1.0239	10	0.72032	D	0.01	-1.0186	1.66	0.02789	0.42:0.2923:0.1259:0.1618	.	120;86;86	B4DQP9;P38936;Q96LE1	.;CDN1A_HUMAN;.	W	120;86;86;86	ENSP00000409259:R120W;ENSP00000244741:R86W;ENSP00000384849:R86W;ENSP00000362815:R86W	ENSP00000244741:R86W	R	+	1	2	CDKN1A	36760112	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.407000	0.07178	-0.143000	0.11334	-0.296000	0.09543	CGG	CDKN1A	-	NULL		0.657	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN1A	HGNC	protein_coding	OTTHUMT00000040354.1	C	NM_078467		36652134	+1	no_errors	ENST00000448526	ensembl	human	known	70_37	missense	SNP	0.000	T
CELSR2	1952	genome.wustl.edu	37	1	109793863	109793863	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:109793863T>C	ENST00000271332.3	+	1	1223	c.1162T>C	c.(1162-1164)Tct>Cct	p.S388P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	388	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGTTTTCCTTTCTGTGGAGGA	0.577																																					NSCLC(158;1285 2011 34800 34852 42084)												0													63.0	70.0	68.0					1																	109793863		2203	4300	6503	SO:0001583	missense	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1162T>C	1.37:g.109793863T>C	ENSP00000271332:p.Ser388Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.S388P	ENST00000271332.3	37	c.1162	CCDS796.1	1	.	.	.	.	.	.	.	.	.	.	N	12.85	2.061499	0.36373	.	.	ENSG00000143126	ENST00000271332	T	0.01854	4.6	4.99	3.87	0.44632	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01558	0.0050	M	0.62088	1.915	0.09310	N	1	P	0.41624	0.757	P	0.47346	0.544	T	0.49312	-0.8953	9	0.41790	T	0.15	.	2.711	0.05174	0.1922:0.0778:0.1277:0.6023	.	388	Q9HCU4	CELR2_HUMAN	P	388	ENSP00000271332:S388P	ENSP00000271332:S388P	S	+	1	0	CELSR2	109595386	0.000000	0.05858	0.708000	0.30435	0.971000	0.66376	0.058000	0.14301	0.961000	0.38030	0.454000	0.30748	TCT	CELSR2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.577	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	T	NM_001408		109793863	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	missense	SNP	0.013	C
CHST4	10164	genome.wustl.edu	37	16	71571633	71571633	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:71571633C>T	ENST00000338482.5	+	3	1396	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CHST4_ENST00000539698.3_Silent_p.G351G|RP11-510M2.5_ENST00000568523.1_RNA|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.G351G			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	351					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AAGCCTGTGGCGATGCCATGA	0.512											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													61.0	58.0	59.0					16																	71571633		2198	4300	6498	SO:0001819	synonymous_variant	10164			AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.1053C>T	16.37:g.71571633C>T		Somatic	1131	WXS	Illumina HiSeq	Phase_IV	Q8IV46|Q9Y5R3	Silent	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.G351	ENST00000338482.5	37	c.1053	CCDS10902.1	16																																																																																			CHST4	-	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase		0.512	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	C	NM_005769		71571633	+1	no_errors	ENST00000338482	ensembl	human	known	70_37	silent	SNP	0.000	T
CLDN3	1365	genome.wustl.edu	37	7	73183783	73183783	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:73183783G>A	ENST00000395145.2	-	1	817	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	199					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				AGCGCGGCGCGGAGTAGACGA	0.711																																																	0													32.0	31.0	31.0					7																	73183783		2193	4280	6473	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.597C>T	7.37:g.73183783G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin3	p.S199	ENST00000395145.2	37	c.597	CCDS5559.1	7																																																																																			CLDN3	-	prints_Claudin3		0.711	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN3	HGNC	protein_coding	OTTHUMT00000252310.1	G	NM_001306		73183783	-1	no_errors	ENST00000395145	ensembl	human	known	70_37	silent	SNP	0.282	A
COL4A5	1287	genome.wustl.edu	37	X	107814650	107814650	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrX:107814650G>A	ENST00000361603.2	+	7	636	c.392G>A	c.(391-393)cGt>cAt	p.R131H	COL4A5_ENST00000328300.6_Missense_Mutation_p.R131H	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	131	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TAGGGAGAACGTGGATTTCCA	0.363									Alport syndrome with Diffuse Leiomyomatosis																																								0													142.0	146.0	145.0					X																	107814650		2203	4300	6503	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.392G>A	X.37:g.107814650G>A	ENSP00000354505:p.Arg131His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R131H	ENST00000361603.2	37	c.392	CCDS14543.1	X	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179739	0.57800	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.96104	-3.91;-3.91	6.13	5.28	0.74379	.	0.288465	0.29940	N	0.010820	D	0.94614	0.8264	M	0.77103	2.36	0.49130	D	0.999759	B;B	0.24043	0.096;0.096	B;B	0.19148	0.024;0.024	D	0.92223	0.5786	10	0.41790	T	0.15	.	14.722	0.69314	0.0705:0.0:0.9295:0.0	.	131;131	E7EVY4;P29400	.;CO4A5_HUMAN	H	131	ENSP00000331902:R131H;ENSP00000354505:R131H	ENSP00000331902:R131H	R	+	2	0	COL4A5	107701306	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.191000	0.42640	1.361000	0.45981	0.597000	0.82753	CGT	COL4A5	-	pfam_Collagen		0.363	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107814650	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	missense	SNP	1.000	A
CXADRP3	440224	genome.wustl.edu	37	18	14478616	14478616	+	lincRNA	SNP	C	C	T	rs566820694	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:14478616C>T	ENST00000581457.1	-	0	1292					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		GAGCCCACTCCGTTTCTGATG	0.428																																																	0																																												440224					18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14478616C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581457.1	37	NULL		18																																																																																			CXADRP3	-	-		0.428	CXADRP3-001	KNOWN	basic	lincRNA	CXADRP3	HGNC	lincRNA	OTTHUMT00000443008.1	C	NR_024076		14478616	-1	no_errors	ENST00000581457	ensembl	human	known	70_37	rna	SNP	0.379	T
CTAGE1	64693	genome.wustl.edu	37	18	19997691	19997691	+	5'Flank	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:19997691G>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Silent_p.F28F			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCCACAAGAAGAGAACAG	0.413																																																	0													85.0	79.0	81.0					18																	19997691		2203	4300	6503	SO:0001631	upstream_gene_variant	64693			AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997691G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ3	Silent	SNP	NULL	p.F28	ENST00000525417.1	37	c.84		18																																																																																			CTAGE1	-	NULL		0.413	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	CTAGE1	HGNC	protein_coding	OTTHUMT00000386767.1	G	NM_022663, NM_172241		19997691	-1	no_errors	ENST00000391403	ensembl	human	known	70_37	silent	SNP	0.010	A
CYP1A2	1544	genome.wustl.edu	37	15	75043622	75043622	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:75043622C>T	ENST00000343932.4	+	3	987	c.924C>T	c.(922-924)gtC>gtT	p.V308V		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	308					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	AGAAGATTGTCAACCTTGTCA	0.572																																																	0													140.0	115.0	124.0					15																	75043622		2197	4296	6493	SO:0001819	synonymous_variant	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.924C>T	15.37:g.75043622C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.V308	ENST00000343932.4	37	c.924	CCDS32293.1	15																																																																																			CYP1A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.572	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	HGNC	protein_coding	OTTHUMT00000421263.2	C	NM_000761		75043622	+1	no_errors	ENST00000343932	ensembl	human	known	70_37	silent	SNP	0.627	T
DDI2	84301	genome.wustl.edu	37	1	15978347	15978347	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:15978347C>T	ENST00000480945.1	+	8	1311	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	380							aspartic-type endopeptidase activity (GO:0004190)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGATTGCAGACCAAGAATTAG	0.512																																																	0													81.0	78.0	79.0					1																	15978347		2203	4300	6503	SO:0001819	synonymous_variant	84301				CCDS30607.1	1p36.13	2010-05-04	2010-05-04		ENSG00000197312	ENSG00000197312			24578	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)"""				Standard	NM_032341		Approved	MGC14844	uc001awx.2	Q5TDH0	OTTHUMG00000002381	ENST00000480945.1:c.1140C>T	1.37:g.15978347C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAE1|Q7RTZ0|Q9BRT1	Silent	SNP	pfam_Peptidase_aspartic_euk-pred,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,pfam_Ubiquitin,superfamily_Peptidase_aspartic,pfscan_Ubiquitin_supergroup	p.D380	ENST00000480945.1	37	c.1140	CCDS30607.1	1																																																																																			DDI2	-	NULL		0.512	DDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDI2	HGNC	protein_coding	OTTHUMT00000006826.1	C	NM_032341		15978347	+1	no_errors	ENST00000480945	ensembl	human	known	70_37	silent	SNP	1.000	T
DNM1P46	196968	genome.wustl.edu	37	15	100332722	100332722	+	RNA	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:100332722C>T	ENST00000341853.1	-	0	1469				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										tgggggtgggcgtgagggtgg	0.602																																																	0													59.0	64.0	62.0					15																	100332722		876	1989	2865			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332722C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-		0.602	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	C	NR_003260		100332722	-1	no_errors	ENST00000341853	ensembl	human	known	70_37	rna	SNP	0.000	T
DNM1P46	196968	genome.wustl.edu	37	15	100339984	100339984	+	RNA	SNP	G	G	T	rs202154374	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:100339984G>T	ENST00000341853.1	-	0	942					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GACTCCTCCAGGAGTGTCTTC	0.597																																																	0													37.0	32.0	34.0					15																	100339984		874	1991	2865			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100339984G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-		0.597	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	G	NR_003260		100339984	-1	no_errors	ENST00000341853	ensembl	human	known	70_37	rna	SNP	1.000	T
DRD5	1816	genome.wustl.edu	37	4	9783770	9783770	+	Silent	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:9783770A>G	ENST00000304374.2	+	1	513	c.117A>G	c.(115-117)tcA>tcG	p.S39S		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	39					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGGGGCCCTCACAGGTGGTCA	0.711																																																	0													12.0	11.0	11.0					4																	9783770		2196	4288	6484	SO:0001819	synonymous_variant	1816			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.117A>G	4.37:g.9783770A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9S3|Q8NEQ8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.S39	ENST00000304374.2	37	c.117	CCDS3405.1	4																																																																																			DRD5	-	NULL		0.711	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	A			9783770	+1	no_errors	ENST00000304374	ensembl	human	known	70_37	silent	SNP	0.892	G
EEF1A1	1915	genome.wustl.edu	37	6	74228826	74228826	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:74228826G>A	ENST00000316292.9	-	3	1441	c.450C>T	c.(448-450)gtC>gtT	p.V150V	EEF1A1_ENST00000309268.6_Silent_p.V150V|EEF1A1_ENST00000331523.2_Silent_p.V150V|EEF1A1_ENST00000491404.1_5'UTR	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	150	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TGTTAACACCGACAATTAGTT	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													17.0	18.0	18.0					6																	74228826		1995	4130	6125	SO:0001819	synonymous_variant	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.450C>T	6.37:g.74228826G>A		Somatic	1151	WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Silent	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.V150	ENST00000316292.9	37	c.450	CCDS4980.1	6																																																																																			EEF1A1	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.448	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74228826	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	silent	SNP	0.997	A
RP11-782C8.2	0	genome.wustl.edu	37	1	143210436	143210436	+	lincRNA	SNP	G	G	A	rs201592860		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:143210436G>A	ENST00000412204.2	-	0	634				RP11-782C8.1_ENST00000438000.1_lincRNA																							TAACCTGCACGTCCATATACT	0.303																																																	0																																												0																															1.37:g.143210436G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.303	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	G			143210436	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.001	A
SH3GL1	6455	genome.wustl.edu	37	19	4363916	4363916	+	Intron	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:4363916G>A	ENST00000269886.3	-	6	644				SH3GL1_ENST00000417295.2_Intron|AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000598564.1_Intron	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1						central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		GTAGCGGCCAGAGGGCCGCCC	0.647			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0													20.0	22.0	21.0					19																	4363916		2195	4287	6482	SO:0001627	intron_variant	0				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.466-41C>T	19.37:g.4363916G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRA1|E7EVZ4|M0QZV5|Q99668	RNA	SNP	-	NULL	ENST00000269886.3	37	NULL	CCDS32874.1	19																																																																																			AC007292.6	-	-		0.647	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267980	Clone_based_vega_gene	protein_coding	OTTHUMT00000458302.1	G	NM_003025		4363916	+1	no_errors	ENST00000594444	ensembl	human	known	70_37	rna	SNP	0.027	A
FAAH2	158584	genome.wustl.edu	37	X	57515415	57515416	+	3'UTR	INS	-	-	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrX:57515415_57515416insT	ENST00000374900.4	+	0	1769_1770				FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2							integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTCGTGTGGTGGTGTTTCTATT	0.411										HNSCC(52;0.14)																																							0																																										SO:0001624	3_prime_UTR_variant	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.*51->T	X.37:g.57515415_57515416insT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VT2|Q96N98	RNA	INS	-	NULL	ENST00000374900.4	37	NULL	CCDS14375.1	X																																																																																			FAAH2	-	-		0.411	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAAH2	HGNC	protein_coding	OTTHUMT00000056919.1	-	NM_174912		57515416	+1	no_errors	ENST00000491179	ensembl	human	known	70_37	rna	INS	0.004:0.003	T
FAM86C2P	645332	genome.wustl.edu	37	11	67560655	67560655	+	RNA	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:67560655A>G	ENST00000528089.1	-	0	1095							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		TTGGAGTCGTATGTGAGTCCT	0.453																																																	0																																												645332					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560655A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-		0.453	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	A			67560655	-1	no_errors	ENST00000528089	ensembl	human	known	70_37	rna	SNP	0.000	G
FAM86C2P	645332	genome.wustl.edu	37	11	67564194	67564194	+	RNA	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:67564194A>G	ENST00000528089.1	-	0	946							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		TCTGGGTTGCAGATGGTAAGG	0.657																																																	0																																												645332					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564194A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-		0.657	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	A			67564194	-1	no_errors	ENST00000525180	ensembl	human	known	70_37	rna	SNP	0.689	G
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C
FCRL3	115352	genome.wustl.edu	37	1	157667110	157667110	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:157667110C>T	ENST00000368184.3	-	6	955	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Missense_Mutation_p.V222I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	222	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TGCAGCTGGACATCTGGCCTC	0.582																																																	0													80.0	83.0	82.0					1																	157667110		2203	4300	6503	SO:0001583	missense	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.664G>A	1.37:g.157667110C>T	ENSP00000357167:p.Val222Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V222I	ENST00000368184.3	37	c.664	CCDS1167.1	1	.	.	.	.	.	.	.	.	.	.	C	9.578	1.122913	0.20959	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.13538	2.58;2.58	5.74	-0.557	0.11800	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	4.316600	0.00914	N	0.002519	T	0.02267	0.0070	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.012;0.004	T	0.33599	-0.9862	10	0.10902	T	0.67	.	6.1842	0.20488	0.0:0.1184:0.2912:0.5904	.	222;222	Q96P31;Q96P31-6	FCRL3_HUMAN;.	I	222	ENSP00000357169:V222I;ENSP00000357167:V222I	ENSP00000292392:V222I	V	-	1	0	FCRL3	155933734	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.271000	0.08572	-0.038000	0.13624	-0.333000	0.08304	GTC	FCRL3	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	C	NM_052939		157667110	-1	no_errors	ENST00000368186	ensembl	human	known	70_37	missense	SNP	0.000	T
FLJ36000	284124	genome.wustl.edu	37	17	21906549	21906549	+	lincRNA	SNP	C	C	T	rs3934025	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:21906549C>T	ENST00000581223.2	+	0	133					NR_027084.1																						ctcaggcctgccaggacggtg	0.667													C|||	1391	0.277756	0.3162	0.2839	5008	,	,		127580	0.3413		0.2008	False		,,,				2504	0.2352																0																																												284124																															17.37:g.21906549C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-		0.667	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1	C			21906549	+1	no_errors	ENST00000581223	ensembl	human	known	70_37	rna	SNP	0.013	T
GRIA4	2893	genome.wustl.edu	37	11	105804604	105804604	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:105804604G>C	ENST00000530497.1	+	13	2203	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	GRIA4_ENST00000525187.1_Missense_Mutation_p.E735Q|GRIA4_ENST00000393127.2_Missense_Mutation_p.E735Q|GRIA4_ENST00000282499.5_Missense_Mutation_p.E735Q|AP000673.1_ENST00000583628.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	735					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TGAATACATTGAGCAGCGAAA	0.483																																																	0													104.0	90.0	95.0					11																	105804604		2202	4299	6501	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2203G>C	11.37:g.105804604G>C	ENSP00000435775:p.Glu735Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.E735Q	ENST00000530497.1	37	c.2203	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	26.1	4.707382	0.89018	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187;ENST00000539249	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.5	5.5	0.81552	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000003	T	0.56352	0.1979	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.979;0.998	T	0.56050	-0.8043	10	0.62326	D	0.03	.	19.4058	0.94647	0.0:0.0:1.0:0.0	.	735;735	P48058;G3V164	GRIA4_HUMAN;.	Q	735;735;735;735;40	ENSP00000282499:E735Q;ENSP00000376835:E735Q;ENSP00000435775:E735Q;ENSP00000432180:E735Q	ENSP00000282499:E735Q	E	+	1	0	GRIA4	105309814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.754000	0.98908	2.591000	0.87537	0.585000	0.79938	GAG	GRIA4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.483	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	G			105804604	+1	no_errors	ENST00000282499	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H2AA	221613	genome.wustl.edu	37	6	25726560	25726560	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:25726560G>A	ENST00000297012.3	-	1	230	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	66						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTGCCTGCCAGCTCAAGGATT	0.512																																																	0													302.0	236.0	259.0					6																	25726560		2203	4300	6503	SO:0001819	synonymous_variant	221613			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.196C>T	6.37:g.25726560G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L66	ENST00000297012.3	37	c.196	CCDS4562.1	6																																																																																			HIST1H2AA	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.512	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	G	NM_170745		25726560	-1	no_errors	ENST00000297012	ensembl	human	known	70_37	silent	SNP	0.995	A
HIST1H2AA	221613	genome.wustl.edu	37	6	25726564	25726564	+	Silent	SNP	A	A	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:25726564A>C	ENST00000297012.3	-	1	226	c.192T>G	c.(190-192)ctT>ctG	p.L64L	HIST1H2BA_ENST00000274764.2_5'Flank	NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	64						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						CTGCCAGCTCAAGGATTTCTG	0.507																																																	0													301.0	235.0	257.0					6																	25726564		2203	4300	6503	SO:0001819	synonymous_variant	221613			AY131982	CCDS4562.1	6p22.2	2011-01-27	2006-10-11		ENSG00000164508	ENSG00000164508		"""Histones / Replication-dependent"""	18729	protein-coding gene	gene with protein product		613499	"""H2A histone family, member R"", ""histone 1, H2aa"""			12408966	Standard	NM_170745		Approved	bA317E16.2, H2AFR	uc003nfc.3	Q96QV6	OTTHUMG00000014407	ENST00000297012.3:c.192T>G	6.37:g.25726564A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.L64	ENST00000297012.3	37	c.192	CCDS4562.1	6																																																																																			HIST1H2AA	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.507	HIST1H2AA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AA	HGNC	protein_coding	OTTHUMT00000040065.1	A	NM_170745		25726564	-1	no_errors	ENST00000297012	ensembl	human	known	70_37	silent	SNP	0.997	C
KIF1B	23095	genome.wustl.edu	37	1	10363823	10363823	+	Intron	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:10363823G>A	ENST00000377086.1	+	22	2317				RN7SL731P_ENST00000584329.1_RNA|KIF1B_ENST00000377083.1_Silent_p.L860L|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377093.4_Silent_p.L860L|KIF1B_ENST00000263934.6_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTGCCACTGATCGGATCTC	0.388																																																	0													43.0	46.0	45.0					1																	10363823		2203	4300	6503	SO:0001627	intron_variant	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6519G>A	1.37:g.10363823G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L860	ENST00000377086.1	37	c.2580		1																																																																																			KIF1B	-	NULL		0.388	KIF1B-001	NOVEL	basic	protein_coding	KIF1B	HGNC	protein_coding	OTTHUMT00000005102.1	G			10363823	+1	no_errors	ENST00000377083	ensembl	human	known	70_37	silent	SNP	1.000	A
KRT86	3892	genome.wustl.edu	37	12	52652146	52652146	+	Intron	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:52652146G>A	ENST00000544024.1	+	1	129				KRT121P_ENST00000529785.1_RNA			O43790	KRT86_HUMAN	keratin 86							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCGTCCGCAGGAGCCGG	0.736																																																	0																																										SO:0001627	intron_variant	85349			X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000544024.1:c.-5+8934G>A	12.37:g.52652146G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78387	RNA	SNP	-	NULL	ENST00000544024.1	37	NULL	CCDS41785.1	12																																																																																			KRT121P	-	-		0.736	KRT86-202	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT121P	HGNC	protein_coding		G	NM_002284		52652146	-1	no_errors	ENST00000529785	ensembl	human	known	70_37	rna	SNP	0.731	A
KRT15	3866	genome.wustl.edu	37	17	39673167	39673167	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:39673167C>A	ENST00000254043.3	-	3	4216	c.631G>T	c.(631-633)Ggc>Tgc	p.G211C	KRT15_ENST00000393974.3_Missense_Mutation_p.G46C|KRT15_ENST00000393976.2_Missense_Mutation_p.G211C|KRT15_ENST00000393981.3_Missense_Mutation_p.G46C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	211	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGGCGCAAGCCGTTGATGTCA	0.597																																																	0													73.0	72.0	72.0					17																	39673167		2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.631G>T	17.37:g.39673167C>A	ENSP00000254043:p.Gly211Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.G211C	ENST00000254043.3	37	c.631	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897063	0.52121	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	3.86	0.44501	Filament (1);	0.000000	0.49916	D	0.000122	D	0.96377	0.8818	H	0.98256	4.185	0.48087	D	0.999589	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.97134	0.9820	10	0.87932	D	0	.	13.6849	0.62511	0.0:0.9237:0.0:0.0763	.	46;211;211	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	C	211;46;211;46;46	ENSP00000254043:G211C;ENSP00000377544:G46C;ENSP00000377546:G211C;ENSP00000377550:G46C;ENSP00000409282:G46C	ENSP00000254043:G211C	G	-	1	0	KRT15	36926693	0.003000	0.15002	0.997000	0.53966	0.122000	0.20287	1.180000	0.32005	2.514000	0.84764	0.650000	0.86243	GGC	KRT15	-	pfam_F,prints_Keratin_I		0.597	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	C	NM_002275		39673167	-1	no_errors	ENST00000254043	ensembl	human	known	70_37	missense	SNP	0.991	A
KRTAP15-1	254950	genome.wustl.edu	37	21	31812743	31812743	+	Missense_Mutation	SNP	A	A	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr21:31812743A>C	ENST00000334067.3	+	1	147	c.98A>C	c.(97-99)aAt>aCt	p.N33T		NM_181623.1	NP_853654.1	Q3LI76	KR151_HUMAN	keratin associated protein 15-1	33						intermediate filament (GO:0005882)				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TACCCCAGCAATGCCATCTAT	0.483																																																	0													89.0	89.0	89.0					21																	31812743		2203	4300	6503	SO:0001583	missense	254950			AP001708	CCDS13593.1	21q22.1	2008-05-21			ENSG00000186970	ENSG00000186970		"""Keratin associated proteins"""	18927	protein-coding gene	gene with protein product						12359730	Standard	NM_181623		Approved	KAP15.1	uc002yod.3	Q3LI76	OTTHUMG00000057784	ENST00000334067.3:c.98A>C	21.37:g.31812743A>C	ENSP00000334866:p.Asn33Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F4	Missense_Mutation	SNP	pfam_PMG	p.N33T	ENST00000334067.3	37	c.98	CCDS13593.1	21	.	.	.	.	.	.	.	.	.	.	A	10.18	1.279278	0.23307	.	.	ENSG00000186970	ENST00000334067	T	0.02656	4.21	4.68	4.68	0.58851	.	0.235442	0.28706	N	0.014417	T	0.09069	0.0224	L	0.45581	1.43	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.07986	-1.0744	10	0.46703	T	0.11	-3.4127	10.8245	0.46625	1.0:0.0:0.0:0.0	.	33	Q3LI76	KR151_HUMAN	T	33	ENSP00000334866:N33T	ENSP00000334866:N33T	N	+	2	0	KRTAP15-1	30734614	0.451000	0.25705	0.262000	0.24481	0.035000	0.12851	3.572000	0.53849	2.326000	0.78906	0.533000	0.62120	AAT	KRTAP15-1	-	pfam_PMG		0.483	KRTAP15-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP15-1	HGNC	protein_coding	OTTHUMT00000128236.1	A			31812743	+1	no_errors	ENST00000334067	ensembl	human	known	70_37	missense	SNP	0.328	C
KRTAP12-2	353323	genome.wustl.edu	37	21	46086689	46086689	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr21:46086689C>T	ENST00000360770.3	-	1	155	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	39	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGCCCACAGGCACA	0.667																																																	0													51.0	58.0	56.0					21																	46086689		2174	4272	6446	SO:0001583	missense	353323			AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.115G>A	21.37:g.46086689C>T	ENSP00000354001:p.Gly39Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	pfam_PMG	p.G39S	ENST00000360770.3	37	c.115	CCDS42965.1	21	.	.	.	.	.	.	.	.	.	.	c	8.611	0.889235	0.17540	.	.	ENSG00000221864	ENST00000360770	T	0.02606	4.23	3.4	-6.8	0.01709	.	.	.	.	.	T	0.00784	0.0026	N	0.00677	-1.265	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47995	-0.9073	9	0.36615	T	0.2	.	2.0793	0.03631	0.2649:0.2728:0.3455:0.1168	.	39	P59991	KR122_HUMAN	S	39	ENSP00000354001:G39S	ENSP00000354001:G39S	G	-	1	0	KRTAP12-2	44911117	0.000000	0.05858	0.000000	0.03702	0.117000	0.20001	-3.173000	0.00572	-2.567000	0.00470	-0.379000	0.06801	GGC	KRTAP12-2	-	pfam_PMG		0.667	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	HGNC	protein_coding	OTTHUMT00000128039.1	C	NM_181684		46086689	-1	no_errors	ENST00000360770	ensembl	human	known	70_37	missense	SNP	0.000	T
LEPREL1	55214	genome.wustl.edu	37	3	189711979	189711979	+	Missense_Mutation	SNP	C	C	T	rs376765314		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:189711979C>T	ENST00000319332.5	-	3	924	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E62K	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	243					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCTGTATCTTCAACGAAATAT	0.413																																																	0								C	LYS/GLU,LYS/GLU	0,4406		0,0,2203	90.0	88.0	89.0		184,727	6.0	1.0	3		89	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	LEPREL1	NM_001134418.1,NM_018192.3	56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	62/528,243/709	189711979	1,13005	2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.727G>A	3.37:g.189711979C>T	ENSP00000316881:p.Glu243Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E243K	ENST00000319332.5	37	c.727	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	18.08	3.544287	0.65198	0.0	1.16E-4	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.96	5.96	0.96718	.	0.097321	0.64402	D	0.000002	T	0.41926	0.1180	N	0.22421	0.69	0.52501	D	0.999955	P	0.42827	0.791	B	0.38616	0.277	T	0.19712	-1.0297	9	.	.	.	-22.5468	19.3889	0.94570	0.0:1.0:0.0:0.0	.	243	Q8IVL5	P3H2_HUMAN	K	243;62;62;62	ENSP00000316881:E243K;ENSP00000408947:E62K;ENSP00000391374:E62K;ENSP00000394326:E62K	.	E	-	1	0	LEPREL1	191194673	1.000000	0.71417	0.970000	0.41538	0.523000	0.34469	7.162000	0.77515	2.826000	0.97356	0.655000	0.94253	GAA	LEPREL1	-	NULL		0.413	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189711979	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	T
NPIPA5	100288332	genome.wustl.edu	37	16	15457666	15457666	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:15457666C>T	ENST00000360151.4	-	8	902	c.903G>A	c.(901-903)gcG>gcA	p.A301A		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	301	Pro-rich.																GATTATCATCCGCTGAGGGTA	0.567																																																	0																																										SO:0001819	synonymous_variant	100288332				CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.903G>A	16.37:g.15457666C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P618	Silent	SNP	pfam_NPIP	p.A301	ENST00000360151.4	37	c.903	CCDS59264.1	16																																																																																			PKD1P1	-	pfam_NPIP		0.567	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	LOC100288332	Uniprot_genename	protein_coding	OTTHUMT00000389069.1	C			15457666	-1	no_errors	ENST00000360151	ensembl	human	novel	70_37	silent	SNP	0.000	T
LOC645752	645752	genome.wustl.edu	37	15	78207869	78207869	+	lincRNA	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:78207869G>A	ENST00000565869.1	+	0	0				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							GGCAACACCAGCTCTTGCAGC	0.652																																																	0																																												645752																															15.37:g.78207869G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			RP11-114H24.2	-	-		0.652	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	Clone_based_vega_gene	lincRNA	OTTHUMT00000421587.1	G			78207869	-1	no_errors	ENST00000563349	ensembl	human	known	70_37	rna	SNP	0.993	A
LPAL2	80350	genome.wustl.edu	37	6	160905275	160905275	+	RNA	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:160905275T>C	ENST00000335388.5	-	0	852					NR_028092.1		Q16609	LPAL2_HUMAN	lipoprotein, Lp(a)-like 2, pseudogene							extracellular region (GO:0005576)				large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		CATGATCAAGTCACTGGAAAT	0.498																																																	0																																												80350			U19517		6q26-q27	2010-10-27	2010-10-27	2004-02-18	ENSG00000213071	ENSG00000213071			21210	pseudogene	pseudogene		611682	"""apolipoprotein A-like"", ""lipoprotein, Lp(a)-like 2"""	APOAL		7749817, 7679504	Standard	NR_028092		Approved	APOARGC	uc011efy.2	Q16609	OTTHUMG00000015952		6.37:g.160905275T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5B4	RNA	SNP	-	NULL	ENST00000335388.5	37	NULL		6																																																																																			LPAL2	-	-		0.498	LPAL2-003	KNOWN	basic	processed_transcript	LPAL2	HGNC	pseudogene	OTTHUMT00000042950.1	T	NM_024492		160905275	-1	no_errors	ENST00000335388	ensembl	human	known	70_37	rna	SNP	0.009	C
LRRC37A3	374819	genome.wustl.edu	37	17	62892159	62892159	+	Missense_Mutation	SNP	G	G	T	rs17857225		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:62892159G>T	ENST00000584306.1	-	3	1747	c.1217C>A	c.(1216-1218)gCt>gAt	p.A406D	RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000400877.3_Intron|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A406D|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000577487.1_5'Flank	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	406						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ACTGGGTGAAGCTAAATGATG	0.537																																																	0													1.0	1.0	1.0					17																	62892159		292	887	1179	SO:0001583	missense	374819			AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.1217C>A	17.37:g.62892159G>T	ENSP00000464535:p.Ala406Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.A406D	ENST00000584306.1	37	c.1217	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	.	0	-2.581395	0.00129	.	.	ENSG00000176809	ENST00000319651	T	0.59772	0.24	2.63	-5.25	0.02781	.	.	.	.	.	T	0.16342	0.0393	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11108	-1.0601	9	0.11794	T	0.64	.	2.8545	0.05568	0.2063:0.2804:0.3945:0.1188	.	406	O60309	L37A3_HUMAN	D	406	ENSP00000325713:A406D	ENSP00000325713:A406D	A	-	2	0	LRRC37A3	60322621	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.921000	0.01569	-5.806000	0.00009	-2.171000	0.00323	GCT	LRRC37A3	-	NULL		0.537	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	HGNC	protein_coding	OTTHUMT00000445377.1	G	NM_199340		62892159	-1	no_errors	ENST00000319651	ensembl	human	known	70_37	missense	SNP	0.000	T
MBTPS1	8720	genome.wustl.edu	37	16	84103572	84103572	+	Silent	SNP	C	C	T	rs144900691	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:84103572C>T	ENST00000343411.3	-	14	2349	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	618					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCTTGCTTCGCGGGGGAGTAG	0.423													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18685	0.0		0.0	False		,,,				2504	0.0																0								C		0,4400		0,0,2200	140.0	148.0	145.0		1854	-9.0	0.2	16	dbSNP_134	145	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	MBTPS1	NM_003791.2		0,9,6491	TT,TC,CC		0.1047,0.0,0.0692		618/1053	84103572	9,12991	2200	4300	6500	SO:0001819	synonymous_variant	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1854G>A	16.37:g.84103572C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6V8|Q24JQ2|Q9UF67	Silent	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.P618	ENST00000343411.3	37	c.1854	CCDS10941.1	16																																																																																			MBTPS1	-	NULL		0.423	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84103572	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	silent	SNP	0.790	T
MICU1	10367	genome.wustl.edu	37	10	74128100	74128100	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:74128100C>T	ENST00000361114.5	-	12	1380	c.1284G>A	c.(1282-1284)ctG>ctA	p.L428L	MICU1_ENST00000398761.4_Silent_p.L430L|MICU1_ENST00000418483.2_Silent_p.L230L|MICU1_ENST00000401998.3_Silent_p.L428L|MICU1_ENST00000398763.4_Silent_p.L230L	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	428	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										CCTTATTGCTCAGTTCGCCAT	0.468																																																	0													82.0	78.0	79.0					10																	74128100		1954	4135	6089	SO:0001819	synonymous_variant	10367			Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.1284G>A	10.37:g.74128100C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L430	ENST00000361114.5	37	c.1290	CCDS55715.1	10																																																																																			MICU1	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.468	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	MICU1	HGNC	protein_coding	OTTHUMT00000048586.1	C	NM_006077		74128100	-1	no_errors	ENST00000398761	ensembl	human	known	70_37	silent	SNP	1.000	T
MT-ND6	4541	genome.wustl.edu	37	M	14544	14544	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrM:14544G>A	ENST00000361681.2	-	1	129	c.130C>T	c.(130-132)Ctg>Ttg	p.L44L	MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TT_ENST00000387460.2_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	44					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCCAAAATTCAGAATAATAAC	0.393																																																	0																																										SO:0001819	synonymous_variant	4541					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.130C>T	M.37:g.14544G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34774|Q8HG30	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase_su6	p.L44	ENST00000361681.2	37	c.130		MT																																																																																			MT-ND6	-	pfam_NADH_UbQ/plastoQ_OxRdtase_su6		0.393	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	MT-ND6	HGNC	protein_coding		G	YP_003024037		14544	-1	no_errors	ENST00000361681	ensembl	human	known	70_37	silent	SNP	NULL	A
MTPAP	55149	genome.wustl.edu	37	10	30654212	30654212	+	Silent	SNP	G	G	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:30654212G>C	ENST00000358107.4	-	1	50	c.51C>G	c.(49-51)ctC>ctG	p.L17L	RN7SL241P_ENST00000482973.2_RNA|MTPAP_ENST00000488290.1_5'UTR|AL161651.1_ENST00000408070.1_RNA			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CACATCTTGAGAGCGACCTGC	0.552																																																	0																																										SO:0001819	synonymous_variant	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000358107.4:c.51C>G	10.37:g.30654212G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Silent	SNP	pfam_PAP_assoc	p.L17	ENST00000358107.4	37	c.51		10																																																																																			MTPAP	-	NULL		0.552	MTPAP-201	KNOWN	basic	protein_coding	MTPAP	HGNC	protein_coding		G	NM_018109		30654212	-1	no_errors	ENST00000358107	ensembl	human	known	70_37	silent	SNP	0.015	C
MUC4	4585	genome.wustl.edu	37	3	195508133	195508133	+	Missense_Mutation	SNP	G	G	A	rs202065387		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:195508133G>A	ENST00000463781.3	-	2	10777	c.10318C>T	c.(10318-10320)Cct>Tct	p.P3440S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.P3440S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P3440S(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAACAGGGGTGGCGTGA	0.592																																																	2	Substitution - Missense(2)	endometrium(2)											30.0	24.0	26.0					3																	195508133		685	1583	2268	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10318C>T	3.37:g.195508133G>A	ENSP00000417498:p.Pro3440Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.P3440S	ENST00000463781.3	37	c.10318	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	g	3.286	-0.146045	0.06627	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29917	1.58;1.55	.	.	.	.	.	.	.	.	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.15809	-1.0424	6	.	.	.	.	.	.	.	.	3312	E7ESK3	.	S	3440	ENSP00000417498:P3440S;ENSP00000420243:P3440S	.	P	-	1	0	MUC4	196992912	0.016000	0.18221	0.006000	0.13384	0.005000	0.04900	-0.684000	0.05173	0.088000	0.17205	0.089000	0.15464	CCT	MUC4	-	NULL		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195508133	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.010	A
MUC4	4585	genome.wustl.edu	37	3	195508165	195508165	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:195508165C>T	ENST00000463781.3	-	2	10745	c.10286G>A	c.(10285-10287)aGc>aAc	p.S3429N	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S3429N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGCTGGTGACAGG	0.577																																																	0																																										SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10286G>A	3.37:g.195508165C>T	ENSP00000417498:p.Ser3429Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S3429N	ENST00000463781.3	37	c.10286	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	4.411	0.075895	0.08485	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31510	1.49;1.57	0.894	-1.48	0.08745	.	.	.	.	.	T	0.10809	0.0264	N	0.08118	0	0.09310	N	1	B	0.29212	0.237	B	0.15484	0.013	T	0.16928	-1.0386	8	.	.	.	.	3.6415	0.08169	0.2301:0.5596:0.0:0.2103	.	3301	E7ESK3	.	N	3429	ENSP00000417498:S3429N;ENSP00000420243:S3429N	.	S	-	2	0	MUC4	196992944	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.669000	0.25142	-2.247000	0.00703	-2.041000	0.00417	AGC	MUC4	-	NULL		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	C	NM_018406		195508165	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC4	4585	genome.wustl.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																																	2	Substitution - Missense(2)	prostate(1)|endometrium(1)											45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.V1001E	ENST00000463781.3	37	c.3002	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA	MUC4	-	NULL		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	A	NM_018406		195515449	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.027	T
NSUN6	221078	genome.wustl.edu	37	10	18937524	18937524	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:18937524C>T	ENST00000377304.4	-	2	544	c.126G>A	c.(124-126)ttG>ttA	p.L42L	RP11-139J15.7_ENST00000606425.1_Silent_p.L30L	NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	42							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						GGTGCTTTAACAAAGTTTCAA	0.343																																																	0													206.0	194.0	198.0					10																	18937524		2203	4299	6502	SO:0001819	synonymous_variant	221078			BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.126G>A	10.37:g.18937524C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ54	Silent	SNP	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.L42	ENST00000377304.4	37	c.126	CCDS7130.1	10																																																																																			NSUN6	-	NULL		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	HGNC	protein_coding	OTTHUMT00000047083.1	C	NM_182543		18937524	-1	no_errors	ENST00000377304	ensembl	human	known	70_37	silent	SNP	0.963	T
NUP155	9631	genome.wustl.edu	37	5	37341341	37341341	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:37341341A>G	ENST00000231498.3	-	11	1300	c.1097T>C	c.(1096-1098)gTt>gCt	p.V366A	NUP155_ENST00000513532.1_Missense_Mutation_p.V366A|NUP155_ENST00000381843.2_Missense_Mutation_p.V307A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	366					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATATAACCTAACACCTGAAGA	0.418																																																	0													83.0	76.0	79.0					5																	37341341		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1097T>C	5.37:g.37341341A>G	ENSP00000231498:p.Val366Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.V366A	ENST00000231498.3	37	c.1097	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067268	0.55539	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	T;T;T	0.47869	0.83;0.83;0.83	5.42	5.42	0.78866	Nucleoporin, Nup133/Nup155-like, N-terminal (1);	0.231906	0.43579	D	0.000555	T	0.68622	0.3021	M	0.79805	2.47	0.80722	D	1	B;D	0.71674	0.157;0.998	B;D	0.74348	0.153;0.983	T	0.67768	-0.5585	10	0.26408	T	0.33	-0.8528	15.7498	0.77976	1.0:0.0:0.0:0.0	.	366;366	E9PF10;O75694	.;NU155_HUMAN	A	366;307;328;366	ENSP00000231498:V366A;ENSP00000371265:V307A;ENSP00000422019:V366A	ENSP00000231498:V366A	V	-	2	0	NUP155	37377098	1.000000	0.71417	0.702000	0.30337	0.798000	0.45092	8.546000	0.90661	2.172000	0.68678	0.482000	0.46254	GTT	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.418	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	A	NM_153485, NM_004298		37341341	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	0.999	G
OPRM1	4988	genome.wustl.edu	37	6	154360931	154360931	+	Silent	SNP	G	G	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:154360931G>T	ENST00000330432.7	+	1	489	c.252G>T	c.(250-252)ggG>ggT	p.G84G	OPRM1_ENST00000434900.2_Silent_p.G177G|OPRM1_ENST00000360422.4_Silent_p.G84G|OPRM1_ENST00000337049.4_Silent_p.G84G|OPRM1_ENST00000419506.2_Silent_p.G84G|OPRM1_ENST00000414028.2_Silent_p.G84G|OPRM1_ENST00000229768.5_Silent_p.G84G|OPRM1_ENST00000452687.2_Silent_p.G84G|OPRM1_ENST00000524163.1_Silent_p.G84G|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000435918.2_Silent_p.G84G|OPRM1_ENST00000428397.2_Silent_p.G84G|OPRM1_ENST00000518759.1_Intron	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	84					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	GCGTGGTGGGGCTCTTCGGAA	0.597																																																	0													77.0	79.0	78.0					6																	154360931		2010	4178	6188	SO:0001819	synonymous_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.252G>T	6.37:g.154360931G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.G177	ENST00000330432.7	37	c.531	CCDS55070.1	6																																																																																			OPRM1	-	pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn		0.597	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154360931	+1	no_errors	ENST00000434900	ensembl	human	known	70_37	silent	SNP	0.962	T
OR4E2	26686	genome.wustl.edu	37	14	22133797	22133797	+	Silent	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:22133797T>C	ENST00000408935.1	+	1	501	c.501T>C	c.(499-501)ccT>ccC	p.P167P		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TTCGTCTACCTTACTGTGGCC	0.458																																																	0													165.0	156.0	159.0					14																	22133797		1995	4204	6199	SO:0001819	synonymous_variant	26686				CCDS41916.1	14q11.2	2013-09-23			ENSG00000221977	ENSG00000221977		"""GPCR / Class A : Olfactory receptors"""	8297	protein-coding gene	gene with protein product							Standard	NM_001001912		Approved		uc010tmd.2	Q8NGC2	OTTHUMG00000168979	ENST00000408935.1:c.501T>C	14.37:g.22133797T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IET6|Q96R62	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P167	ENST00000408935.1	37	c.501	CCDS41916.1	14																																																																																			OR4E2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.458	OR4E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4E2	HGNC	protein_coding	OTTHUMT00000401874.1	T			22133797	+1	no_errors	ENST00000408935	ensembl	human	known	70_37	silent	SNP	0.995	C
OR6C6	283365	genome.wustl.edu	37	12	55688303	55688303	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:55688303G>A	ENST00000358433.2	-	1	713	c.714C>T	c.(712-714)acC>acT	p.T238T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGGAAGTACAGGTGGAAAATG	0.383																																																	0													113.0	120.0	117.0					12																	55688303		2203	4300	6503	SO:0001819	synonymous_variant	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.714C>T	12.37:g.55688303G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T238	ENST00000358433.2	37	c.714	CCDS31817.1	12																																																																																			OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.383	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	G			55688303	-1	no_errors	ENST00000358433	ensembl	human	known	70_37	silent	SNP	0.989	A
OR6C6	283365	genome.wustl.edu	37	12	55688775	55688775	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:55688775A>G	ENST00000358433.2	-	1	241	c.242T>C	c.(241-243)aTa>aCa	p.I81T		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACAATGGTTATCAAGAATCT	0.373																																																	0													46.0	49.0	48.0					12																	55688775		2203	4300	6503	SO:0001583	missense	283365				CCDS31817.1	12q13.13	2012-08-09			ENSG00000188324	ENSG00000188324		"""GPCR / Class A : Olfactory receptors"""	31293	protein-coding gene	gene with protein product							Standard	NM_001005493		Approved		uc010sph.2	A6NF89	OTTHUMG00000168101	ENST00000358433.2:c.242T>C	12.37:g.55688775A>G	ENSP00000351211:p.Ile81Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I81T	ENST00000358433.2	37	c.242	CCDS31817.1	12	.	.	.	.	.	.	.	.	.	.	-	0.010	-1.752735	0.00663	.	.	ENSG00000188324	ENST00000358433	T	0.00388	7.59	4.22	-2.61	0.06171	GPCR, rhodopsin-like superfamily (1);	0.951972	0.08654	N	0.913505	T	0.00109	0.0003	N	0.03294	-0.36	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18178	-1.0345	10	0.30854	T	0.27	.	0.9973	0.01470	0.2433:0.1198:0.3177:0.3192	.	81	A6NF89	OR6C6_HUMAN	T	81	ENSP00000351211:I81T	ENSP00000351211:I81T	I	-	2	0	OR6C6	53975042	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.511000	0.00446	-0.221000	0.09973	-0.801000	0.03215	ATA	OR6C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.373	OR6C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C6	HGNC	protein_coding	OTTHUMT00000398151.1	A			55688775	-1	no_errors	ENST00000358433	ensembl	human	known	70_37	missense	SNP	0.000	G
PCDH19	57526	genome.wustl.edu	37	X	99663130	99663130	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chrX:99663130G>C	ENST00000373034.4	-	1	2141	c.466C>G	c.(466-468)Cca>Gca	p.P156A	PCDH19_ENST00000420881.2_Missense_Mutation_p.P156A|PCDH19_ENST00000255531.7_Missense_Mutation_p.P156A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	156	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGAGTCTGGATCGTAAGCG	0.637																																																	0													69.0	68.0	68.0					X																	99663130		2109	4216	6325	SO:0001583	missense	57526			AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.466C>G	X.37:g.99663130G>C	ENSP00000362125:p.Pro156Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P156A	ENST00000373034.4	37	c.466	CCDS55462.1	X	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738086	0.69304	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.48201	0.82;0.82;0.82	5.7	5.7	0.88788	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	L	0.31804	0.96	0.80722	D	1	D;D;D	0.89917	1.0;0.988;0.991	D;D;D	0.87578	0.998;0.925;0.955	T	0.57539	-0.7794	10	0.39692	T	0.17	.	18.367	0.90394	0.0:0.0:1.0:0.0	.	156;156;156	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	156	ENSP00000400327:P156A;ENSP00000362125:P156A;ENSP00000255531:P156A	ENSP00000255531:P156A	P	-	1	0	PCDH19	99549786	1.000000	0.71417	0.733000	0.30861	0.932000	0.56968	9.807000	0.99171	2.385000	0.81259	0.544000	0.68410	CCA	PCDH19	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.637	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH19	HGNC	protein_coding	OTTHUMT00000057479.2	G	NM_020766		99663130	-1	no_errors	ENST00000373034	ensembl	human	known	70_37	missense	SNP	1.000	C
PCDHA3	56145	genome.wustl.edu	37	5	140183220	140183220	+	Intron	SNP	C	C	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr5:140183220C>G	ENST00000522353.2	+	1	2394				PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.S813*|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338																																																	0													34.0	43.0	40.0					5																	140183220		2200	4300	6500	SO:0001627	intron_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2394+44C>G	5.37:g.140183220C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75286	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S813*	ENST00000522353.2	37	c.2438	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	c	16.38	3.107074	0.56291	.	.	ENSG00000255408	ENST00000532566	.	.	.	4.24	-8.47	0.00939	.	2.083900	0.04149	U	0.321013	.	.	.	.	.	.	0.34409	D	0.696154	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.8108	0.03090	0.1537:0.2878:0.0829:0.4756	.	.	.	.	X	813	.	.	S	+	2	0	PCDHA3	140163404	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	-0.925000	0.03992	-2.394000	0.00583	0.467000	0.42956	TCA	PCDHA3	-	NULL		0.338	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	C	NM_018906		140183220	+1	no_errors	ENST00000532566	ensembl	human	known	70_37	nonsense	SNP	0.000	G
PCNXL3	399909	genome.wustl.edu	37	11	65402860	65402860	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:65402860T>C	ENST00000355703.3	+	31	5664	c.5125T>C	c.(5125-5127)Tcc>Ccc	p.S1709P	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1709						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGATGATGCCTCCGACGAGTA	0.642																																																	0													23.0	24.0	24.0					11																	65402860		2077	4205	6282	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5125T>C	11.37:g.65402860T>C	ENSP00000347931:p.Ser1709Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.S1709P	ENST00000355703.3	37	c.5125	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154372	0.38021	.	.	ENSG00000197136	ENST00000355703	T	0.46063	0.88	4.11	4.11	0.48088	.	0.138748	0.49916	D	0.000131	T	0.58452	0.2123	M	0.80847	2.515	0.32798	N	0.500296	D;D	0.64830	0.994;0.982	P;P	0.62649	0.905;0.902	T	0.69555	-0.5114	10	0.56958	D	0.05	.	6.8305	0.23907	0.2072:0.0:0.0:0.7928	.	596;1709	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	P	1709	ENSP00000347931:S1709P	ENSP00000347931:S1709P	S	+	1	0	PCNXL3	65159436	1.000000	0.71417	0.756000	0.31282	0.154000	0.21943	4.127000	0.57944	1.740000	0.51718	0.379000	0.24179	TCC	PCNXL3	-	pfam_Pecanex		0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	T	NM_032223		65402860	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.991	C
PCNXL3	399909	genome.wustl.edu	37	11	65402863	65402863	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr11:65402863G>A	ENST00000355703.3	+	31	5667	c.5128G>A	c.(5128-5130)Gac>Aac	p.D1710N	SIPA1_ENST00000534313.1_5'Flank|MIR4690_ENST00000578459.1_RNA	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1710						integral component of membrane (GO:0016021)		p.D1710N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGATGCCTCCGACGAGTACAA	0.637																																																	1	Substitution - Missense(1)	lung(1)											22.0	23.0	23.0					11																	65402863		2068	4204	6272	SO:0001583	missense	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.5128G>A	11.37:g.65402863G>A	ENSP00000347931:p.Asp1710Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZN8	Missense_Mutation	SNP	pfam_Pecanex	p.D1710N	ENST00000355703.3	37	c.5128	CCDS44650.1	11	.	.	.	.	.	.	.	.	.	.	G	12.13	1.846721	0.32606	.	.	ENSG00000197136	ENST00000355703	T	0.49139	0.79	4.11	4.11	0.48088	.	0.000000	0.85682	D	0.000000	T	0.49695	0.1572	L	0.38838	1.175	0.40014	D	0.975326	B;D	0.76494	0.036;0.999	B;D	0.66716	0.025;0.946	T	0.42103	-0.9471	10	0.17369	T	0.5	.	7.6633	0.28415	0.1137:0.0:0.8863:0.0	.	597;1710	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	N	1710	ENSP00000347931:D1710N	ENSP00000347931:D1710N	D	+	1	0	PCNXL3	65159439	1.000000	0.71417	0.148000	0.22405	0.150000	0.21749	4.175000	0.58263	2.142000	0.66516	0.462000	0.41574	GAC	PCNXL3	-	pfam_Pecanex		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	G	NM_032223		65402863	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	missense	SNP	0.993	A
PGM2	55276	genome.wustl.edu	37	4	37851828	37851828	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:37851828C>T	ENST00000381967.4	+	12	1536	c.1436C>T	c.(1435-1437)gCt>gTt	p.A479V	PGM2_ENST00000537241.1_Missense_Mutation_p.A319V	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	479					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTACTAAAGCTTCCTATTTT	0.333																																																	0													41.0	45.0	44.0					4																	37851828		2201	4299	6500	SO:0001583	missense	55276			BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1436C>T	4.37:g.37851828C>T	ENSP00000371393:p.Ala479Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A479V	ENST00000381967.4	37	c.1436	CCDS3443.1	4	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472621	0.43942	.	.	ENSG00000169299	ENST00000381967;ENST00000537241	T;T	0.37752	1.18;1.96	5.53	4.68	0.58851	.	0.213479	0.48767	N	0.000161	T	0.23289	0.0563	N	0.20881	0.62	0.38987	D	0.959075	B	0.09022	0.002	B	0.12156	0.007	T	0.07578	-1.0765	10	0.30854	T	0.27	-20.2216	9.6365	0.39811	0.1383:0.7896:0.0:0.072	.	479	Q96G03	PGM2_HUMAN	V	479;319	ENSP00000371393:A479V;ENSP00000437342:A319V	ENSP00000371393:A479V	A	+	2	0	PGM2	37528223	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.284000	0.43478	2.605000	0.88082	0.650000	0.86243	GCT	PGM2	-	NULL		0.333	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	HGNC	protein_coding	OTTHUMT00000215079.2	C	NM_018290		37851828	+1	no_errors	ENST00000381967	ensembl	human	known	70_37	missense	SNP	1.000	T
PLIN4	729359	genome.wustl.edu	37	19	4510708	4510708	+	Silent	SNP	C	C	T	rs534069616|rs371845550	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:4510708C>T	ENST00000301286.3	-	3	3221	c.3222G>A	c.(3220-3222)ccG>ccA	p.P1074P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1074						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGCCAGAGAACGGGGCCTCTT	0.657													c|||	1	0.000199681	0.0	0.0014	5008	,	,		15824	0.0		0.0	False		,,,				2504	0.0																0										2,4164		0,2,2081	25.0	30.0	28.0		3222	0.9	0.0	19		28	0,8410		0,0,4205	no	coding-synonymous	PLIN4	NM_001080400.1		0,2,6286	TT,TC,CC		0.0,0.048,0.0159		1074/1358	4510708	2,12574	2083	4205	6288	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3222G>A	19.37:g.4510708C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.P1074	ENST00000301286.3	37	c.3222	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.657	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4510708	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.000	T
PNLIP	5406	genome.wustl.edu	37	10	118314792	118314792	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr10:118314792C>T	ENST00000369221.2	+	7	702	c.674C>T	c.(673-675)cCc>cTc	p.P225L		NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase	225					intestinal cholesterol absorption (GO:0030299)|lipid catabolic process (GO:0016042)|lipid digestion (GO:0044241)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|triglyceride lipase activity (GO:0004806)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Glycerol Phenylbutyrate(DB08909)|Orlistat(DB01083)	GATGGTGCCCCCATAGTCCCC	0.473																																																	0													74.0	68.0	70.0					10																	118314792		2203	4300	6503	SO:0001583	missense	5406			BC014309	CCDS7594.1	10q25.3	2012-07-31			ENSG00000175535	ENSG00000175535	3.1.1.3		9155	protein-coding gene	gene with protein product		246600				1783385	Standard	NM_000936		Approved	PL	uc001lcm.3	P16233	OTTHUMG00000019103	ENST00000369221.2:c.674C>T	10.37:g.118314792C>T	ENSP00000358223:p.Pro225Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSQ2	Missense_Mutation	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc	p.P225L	ENST00000369221.2	37	c.674	CCDS7594.1	10	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611836	0.46631	.	.	ENSG00000175535	ENST00000369221	D	0.91124	-2.79	6.07	6.07	0.98685	Lipase, N-terminal (1);	0.077976	0.56097	D	0.000035	D	0.93190	0.7831	L	0.49126	1.545	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.92561	0.6058	10	0.51188	T	0.08	.	14.877	0.70501	0.1441:0.8559:0.0:0.0	.	225	P16233	LIPP_HUMAN	L	225	ENSP00000358223:P225L	ENSP00000358223:P225L	P	+	2	0	PNLIP	118304782	0.921000	0.31238	0.224000	0.23877	0.161000	0.22273	2.769000	0.47654	2.890000	0.99128	0.585000	0.79938	CCC	PNLIP	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.473	PNLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNLIP	HGNC	protein_coding	OTTHUMT00000050524.1	C	NM_000936		118314792	+1	no_errors	ENST00000369221	ensembl	human	known	70_37	missense	SNP	0.929	T
PODXL2	50512	genome.wustl.edu	37	3	127358323	127358323	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:127358323G>A	ENST00000342480.6	+	2	345	c.306G>A	c.(304-306)gaG>gaA	p.E102E		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	102					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GGGAAGAGGAGGAAGAGCTGA	0.562																																																	0													73.0	80.0	77.0					3																	127358323		2203	4300	6503	SO:0001819	synonymous_variant	50512			AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.306G>A	3.37:g.127358323G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UVY4|Q8WUV6	Silent	SNP	pfam_CD34/Podocalyxin	p.E102	ENST00000342480.6	37	c.306	CCDS3044.1	3																																																																																			PODXL2	-	NULL		0.562	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PODXL2	HGNC	protein_coding	OTTHUMT00000356638.1	G	NM_015720		127358323	+1	no_errors	ENST00000342480	ensembl	human	known	70_37	silent	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130832389	130832389	+	Missense_Mutation	SNP	G	G	T	rs199761904	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:130832389G>T	ENST00000409914.2	-	17	3055	c.2656C>A	c.(2656-2658)Cct>Act	p.P886T	POTEF_ENST00000357462.5_Missense_Mutation_p.P886T	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	886	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGGTAGTCAGGCAGTTCCCGC	0.587																																																	0													20.0	28.0	25.0					2																	130832389		1902	3994	5896	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.2656C>A	2.37:g.130832389G>T	ENSP00000386786:p.Pro886Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.P886T	ENST00000409914.2	37	c.2656	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.840460	0.00573	.	.	ENSG00000196604	ENST00000357462;ENST00000409914	T;T	0.04360	3.64;3.64	.	.	.	.	.	.	.	.	T	0.00241	0.0007	N	0.00000	-5.41	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59364	-0.7468	8	0.02654	T	1	.	4.0871	0.09951	0.0:1.0E-4:0.3502:0.6498	.	886	A5A3E0	POTEF_HUMAN	T	886	ENSP00000350052:P886T;ENSP00000386786:P886T	ENSP00000350052:P886T	P	-	1	0	POTEF	130548859	1.000000	0.71417	0.050000	0.19076	0.050000	0.14768	3.856000	0.55964	-2.076000	0.00875	-2.150000	0.00334	CCT	POTEF	-	pfam_Actin-like,smart_Actin-like		0.587	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	G	NM_001099771		130832389	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	1.000	T
PRIM2	5558	genome.wustl.edu	37	6	57512841	57512841	+	3'UTR	SNP	A	A	G	rs78256005	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:57512841A>G	ENST00000389488.2	+	0	1756				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		tcccagctcaagtgatcctcc	0.438																																																	0																																										SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1753A>G	6.37:g.57512841A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-		0.438	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	A	NM_000947		57512841	+1	no_errors	ENST00000389488	ensembl	human	known	70_37	rna	SNP	0.268	G
PRIM2	5558	genome.wustl.edu	37	6	57512874	57512874	+	3'UTR	SNP	G	G	A	rs71214002	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:57512874G>A	ENST00000389488.2	+	0	1789				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		ccaagtagttgggaccacagg	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1786G>A	6.37:g.57512874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000389488.2	37	NULL		6																																																																																			PRIM2	-	-		0.493	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	PRIM2	HGNC	protein_coding	OTTHUMT00000043468.3	G	NM_000947		57512874	+1	no_errors	ENST00000389488	ensembl	human	known	70_37	rna	SNP	0.050	A
PSME3	10197	genome.wustl.edu	37	17	40991365	40991365	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:40991365C>T	ENST00000590720.1	+	10	885	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	PSME3_ENST00000592169.1_Missense_Mutation_p.R162W|PSME3_ENST00000545225.1_Missense_Mutation_p.R157W|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000293362.3_Missense_Mutation_p.R231W|PSME3_ENST00000441946.2_Missense_Mutation_p.R229W			P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of endopeptidase activity (GO:0010950)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome activator complex (GO:0008537)|proteasome complex (GO:0000502)	endopeptidase activator activity (GO:0061133)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)	p.R231W(1)		NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TATCAGCCTTCGGCTCATCAT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											80.0	77.0	78.0					17																	40991365		2203	4300	6503	SO:0001583	missense	10197			U11292	CCDS11442.1, CCDS45689.1, CCDS59290.1	17q12-q21	2004-02-17				ENSG00000131467		"""Proteasome (prosome, macropain) subunits"""	9570	protein-coding gene	gene with protein product		605129				7951316	Standard	NM_005789		Approved	Ki, PA28-gamma, REG-GAMMA, PA28G	uc002ibq.4	P61289		ENST00000590720.1:c.652C>T	17.37:g.40991365C>T	ENSP00000466794:p.Arg218Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9A3|O35563|P97373|Q12920|Q13172|Q9BQD9	Missense_Mutation	SNP	pfam_Proteasome_activ_REG_bsu,pfam_Proteasome_activ_REG_asu,superfamily_Proteasome_activ_REG_asu/bsu	p.R231W	ENST00000590720.1	37	c.691	CCDS45689.1	17	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753032	0.49362	.	.	ENSG00000131467	ENST00000545225;ENST00000293362;ENST00000441946	T;T	0.54279	0.58;0.58	5.78	4.81	0.61882	Proteasome activator pa28, REG beta subunit (2);	0.112547	0.64402	D	0.000013	T	0.68613	0.3020	M	0.63208	1.945	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.999;0.999	D;D;D;D	0.69654	0.938;0.965;0.965;0.942	T	0.68689	-0.5342	10	0.38643	T	0.18	-26.7237	16.4262	0.83815	0.1325:0.8675:0.0:0.0	.	157;218;218;231	B3KQ25;Q6FHK7;P61289;P61289-2	.;.;PSME3_HUMAN;.	W	157;231;218	ENSP00000441682:R157W;ENSP00000293362:R231W	ENSP00000293362:R231W	R	+	1	2	PSME3	38244891	1.000000	0.71417	0.967000	0.41034	0.990000	0.78478	4.823000	0.62694	1.450000	0.47717	-0.277000	0.10078	CGG	PSME3	-	pfam_Proteasome_activ_REG_bsu,superfamily_Proteasome_activ_REG_asu/bsu		0.443	PSME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSME3	HGNC	protein_coding	OTTHUMT00000452430.1	C	NM_176863		40991365	+1	no_errors	ENST00000293362	ensembl	human	known	70_37	missense	SNP	1.000	T
RINT1	60561	genome.wustl.edu	37	7	105177177	105177178	+	Missense_Mutation	DNP	AA	AA	CT			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:105177177_105177178AA>CT	ENST00000257700.2	+	3	485_486	c.254_255AA>CT	c.(253-255)aAA>aCT	p.K85T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTAG	0.282																																																	0																																										SO:0001583	missense	60561			AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	Exception_encountered	7.37:g.105177177_105177178delinsCT	ENSP00000257700:p.Lys85Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	pfam_RINT1_TIP1	p.K85T|p.K85N	ENST00000257700.2	37	c.254|c.255	CCDS34726.1	7																																																																																			RINT1	-	NULL		0.282	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RINT1	HGNC	protein_coding	OTTHUMT00000348686.1	A	NM_021930		105177177|105177178	+1	no_errors	ENST00000257700	ensembl	human	known	70_37	missense	SNP	1.000|0.995	C|T
SDHAP1	255812	genome.wustl.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCTCCAGTGCTCCTCAAAG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692347G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.572	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	G			195692347	-1	no_errors	ENST00000354559	ensembl	human	known	70_37	rna	SNP	1.000	A
SERPINA3	12	genome.wustl.edu	37	14	95085756	95085757	+	Missense_Mutation	DNP	AT	AT	CA			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A|T	A|T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr14:95085756_95085757AT>CA	ENST00000467132.1	+	3	2016_2017	c.868_869AT>CA	c.(868-870)ATg>CAg	p.M290Q	SERPINA3_ENST00000482740.1_Missense_Mutation_p.M72Q|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.M290Q|SERPINA3_ENST00000393080.4_Missense_Mutation_p.M290Q			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	290					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGTGGAAGCCATGCTGCTCCCA	0.569																																																	0																																										SO:0001583	missense	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	Exception_encountered	14.37:g.95085756_95085757delinsCA	ENSP00000450540:p.Met290Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.M315L|p.M315K	ENST00000467132.1	37	c.943|c.944	CCDS32150.1	14																																																																																			SERPINA3	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.569	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA3	HGNC	protein_coding	OTTHUMT00000268080.3	A|T	NM_001085		95085756|95085757	+1	no_errors	ENST00000553947	ensembl	human	known	70_37	missense	SNP	0.000	C|A
SLC4A1	6521	genome.wustl.edu	37	17	42335066	42335066	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:42335066G>A	ENST00000262418.6	-	12	1547	c.1392C>T	c.(1390-1392)ttC>ttT	p.F464F	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	464	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGGTCCTGAGAAGCCGACCA	0.617																																																	0													54.0	54.0	54.0					17																	42335066		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1392C>T	17.37:g.42335066G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.F464	ENST00000262418.6	37	c.1392	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42335066	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC4A1	6521	genome.wustl.edu	37	17	42335069	42335069	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:42335069G>A	ENST00000262418.6	-	12	1544	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	AC003043.1_ENST00000597382.1_5'Flank|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	463	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTCCTGAGAAGCCGACCACAA	0.617																																																	0													56.0	56.0	56.0					17																	42335069		2203	4300	6503	SO:0001819	synonymous_variant	6521				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1389C>T	17.37:g.42335069G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Silent	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.G463	ENST00000262418.6	37	c.1389	CCDS11481.1	17																																																																																			SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.617	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	G	NM_000342		42335069	-1	no_errors	ENST00000262418	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC6A17	388662	genome.wustl.edu	37	1	110714769	110714769	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:110714769G>A	ENST00000331565.4	+	3	859	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	125					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CAGAGGATCCGCCGCGGCAGC	0.622																																																	0													60.0	45.0	50.0					1																	110714769		2203	4300	6503	SO:0001583	missense	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.374G>A	1.37:g.110714769G>A	ENSP00000330199:p.Arg125His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R125H	ENST00000331565.4	37	c.374	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.499177	0.96355	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.77750	-1.12	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	D	0.89815	0.6824	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91982	0.5595	10	0.87932	D	0	.	18.6986	0.91611	0.0:0.0:1.0:0.0	.	125	Q9H1V8	S6A17_HUMAN	H	125	ENSP00000330199:R125H	ENSP00000330199:R125H	R	+	2	0	SLC6A17	110516292	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	2.404000	0.81709	0.585000	0.79938	CGC	SLC6A17	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	HGNC	protein_coding	OTTHUMT00000032550.2	G	XM_371280		110714769	+1	no_errors	ENST00000331565	ensembl	human	known	70_37	missense	SNP	1.000	A
SLMAP	7871	genome.wustl.edu	37	3	57898920	57898920	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:57898920T>A	ENST00000428312.1	+	19	2099	c.2005T>A	c.(2005-2007)Ttg>Atg	p.L669M	SLMAP_ENST00000495364.1_Missense_Mutation_p.L203M|SLMAP_ENST00000494088.1_Missense_Mutation_p.L162M|SLMAP_ENST00000416870.1_Missense_Mutation_p.L162M|SLMAP_ENST00000295952.3_Missense_Mutation_p.L652M|SLMAP_ENST00000442599.2_Missense_Mutation_p.L137M|SLMAP_ENST00000295951.3_Missense_Mutation_p.L652M|SLMAP_ENST00000449503.2_Missense_Mutation_p.L631M			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	669					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		ATGGAATGCATTGGAAACCGA	0.343																																																	0													79.0	80.0	80.0					3																	57898920		2203	4300	6503	SO:0001583	missense	7871			AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.2005T>A	3.37:g.57898920T>A	ENSP00000398661:p.Leu669Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Missense_Mutation	SNP	pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom	p.L669M	ENST00000428312.1	37	c.2005		3	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	19.98|19.98|19.98	3.927856|3.927856|3.927856	0.73327|0.73327|0.73327	.|.|.	.|.|.	ENSG00000163681|ENSG00000163681|ENSG00000163681	ENST00000417128|ENST00000416658;ENST00000438794|ENST00000295951;ENST00000295952;ENST00000416870;ENST00000428312;ENST00000449503;ENST00000537224;ENST00000442599;ENST00000495364;ENST00000494088	.|.|T;T;T;T;T;T;T;D	.|.|0.85484	.|.|-1.3;-1.3;-1.3;0.15;0.11;1.42;-1.3;-1.99	6.06|6.06|6.06	2.53|2.53|2.53	0.30540|0.30540|0.30540	.|.|.	.|.|0.067043	.|.|0.64402	.|.|D	.|.|0.000010	D|D|D	0.88618|0.88618|0.88618	0.6485|0.6485|0.6485	M|M|M	0.63843|0.63843|0.63843	1.955|1.955|1.955	0.52501|0.52501|0.52501	D|D|D	0.999958|0.999958|0.999958	.|.|D;D;D;D;D;D;D;D	.|.|0.89917	.|.|0.999;1.0;0.999;0.999;1.0;1.0;1.0;1.0	.|.|D;D;D;D;D;D;D;D	.|.|0.91635	.|.|0.999;0.999;0.999;0.999;0.997;0.986;0.968;0.999	D|D|D	0.85972|0.85972|0.85972	0.1477|0.1477|0.1477	5|5|10	.|.|0.54805	.|.|T	.|.|0.06	-3.6483|-3.6483|-3.6483	6.3131|6.3131|6.3131	0.21176|0.21176|0.21176	0.0:0.406:0.0:0.594|0.0:0.406:0.0:0.594|0.0:0.406:0.0:0.594	.|.|.	.|.|162;137;203;162;263;631;669;652	.|.|B7Z863;C9JPE6;Q14BN4-5;Q14BN4-8;Q14BN4-4;Q14BN4-2;Q14BN4;Q14BN4-3	.|.|.;.;.;.;.;.;SLMAP_HUMAN;.	Q|N|M	252|276;206|652;652;162;669;631;263;137;203;162	.|.|ENSP00000295951:L652M;ENSP00000295952:L652M;ENSP00000412342:L162M;ENSP00000398661:L669M;ENSP00000412945:L631M;ENSP00000388978:L137M;ENSP00000419543:L203M;ENSP00000418218:L162M	.|.|ENSP00000295951:L652M	H|I|L	+|+|+	3|2|1	2|0|2	SLMAP|SLMAP|SLMAP	57873960|57873960|57873960	0.537000|0.537000|0.537000	0.26386|0.26386|0.26386	0.999000|0.999000|0.999000	0.59377|0.59377|0.59377	0.917000|0.917000|0.917000	0.54804|0.54804|0.54804	0.685000|0.685000|0.685000	0.25378|0.25378|0.25378	0.555000|0.555000|0.555000	0.29079|0.29079|0.29079	0.528000|0.528000|0.528000	0.53228|0.53228|0.53228	CAT|ATT|TTG	SLMAP	-	NULL		0.343	SLMAP-013	KNOWN	basic	protein_coding	SLMAP	HGNC	protein_coding	OTTHUMT00000351584.1	T	NM_007159		57898920	+1	no_errors	ENST00000428312	ensembl	human	known	70_37	missense	SNP	0.999	A
SMARCAD1	56916	genome.wustl.edu	37	4	95147284	95147284	+	Missense_Mutation	SNP	C	C	G	rs555203609		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:95147284C>G	ENST00000354268.4	+	3	278	c.205C>G	c.(205-207)Cca>Gca	p.P69A	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.P69A			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	69					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTCTAGTGTTCCAGAAACTCC	0.303																																																	0													48.0	50.0	50.0					4																	95147284		2201	4295	6496	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.205C>G	4.37:g.95147284C>G	ENSP00000346217:p.Pro69Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P69A	ENST00000354268.4	37	c.205	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.126618	0.77549	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.52057	0.68;0.68;0.68	5.74	5.74	0.90152	.	0.000000	0.36972	N	0.002320	T	0.59569	0.2203	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.986;0.994	T	0.60732	-0.7205	10	0.66056	D	0.02	-16.9788	16.8405	0.85967	0.0:1.0:0.0:0.0	.	69;69	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	A	69	ENSP00000351947:P69A;ENSP00000415576:P69A;ENSP00000346217:P69A	ENSP00000346217:P69A	P	+	1	0	SMARCAD1	95366307	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.826000	0.48104	2.712000	0.92718	0.650000	0.86243	CCA	SMARCAD1	-	NULL		0.303	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	C	NM_020159		95147284	+1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX11	29916	genome.wustl.edu	37	17	46190131	46190131	+	Intron	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:46190131T>C	ENST00000393405.2	+	4	483				SNX11_ENST00000359238.2_Intron|SNX11_ENST00000439357.2_Intron|SNX11_ENST00000580219.1_Intron|SNX11_ENST00000582104.1_Intron|SNX11_ENST00000452859.2_Intron|SNX11_ENST00000578861.1_3'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11						intracellular protein transport (GO:0006886)|vesicle organization (GO:0016050)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol phosphate binding (GO:1901981)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						ttgctcttgttgcccaggctg	0.512																																																	0																																										SO:0001627	intron_variant	29916			AF121861	CCDS11526.1	17q21.32	2011-05-03			ENSG00000002919	ENSG00000002919		"""Sorting nexins"""	14975	protein-coding gene	gene with protein product		614906					Standard	NM_013323		Approved		uc002ing.1	Q9Y5W9		ENST00000393405.2:c.129+109T>C	17.37:g.46190131T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRL6|B4DPY5|D3DTV0|Q53YC0|Q9H885	Missense_Mutation	SNP	NULL	p.C50R	ENST00000393405.2	37	c.148	CCDS11526.1	17																																																																																			SNX11	-	NULL		0.512	SNX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX11	HGNC	protein_coding	OTTHUMT00000443423.1	T			46190131	+1	no_errors	ENST00000583320	ensembl	human	known	70_37	missense	SNP	0.111	C
MTCL1	23255	genome.wustl.edu	37	18	8821479	8821479	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr18:8821479C>T	ENST00000306329.11	+	12	4128	c.4128C>T	c.(4126-4128)caC>caT	p.H1376H	SOGA2_ENST00000359865.3_Silent_p.H1057H|SOGA2_ENST00000400050.3_Silent_p.H1016H|SOGA2_ENST00000306285.7_Silent_p.H382H|SOGA2_ENST00000518815.1_Silent_p.H382H|SOGA2_ENST00000517570.1_Silent_p.H1016H																							AAGAAAATCACAAAGGAAATC	0.303																																																	0													32.0	34.0	34.0					18																	8821479		2193	4298	6491	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4128C>T	18.37:g.8821479C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DUF3166	p.H1057	ENST00000306329.11	37	c.3171		18																																																																																			SOGA2	-	NULL		0.303	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	HGNC	protein_coding	OTTHUMT00000444141.1	C			8821479	+1	no_errors	ENST00000359865	ensembl	human	known	70_37	silent	SNP	1.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84608110	84608110	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:84608110A>T	ENST00000344803.2	+	4	2772	c.2725A>T	c.(2725-2727)Act>Tct	p.T909S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	909					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCATATTAAAACTTTCCGTAT	0.438																																																	0													51.0	48.0	49.0					9																	84608110		1846	4082	5928	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2725A>T	9.37:g.84608110A>T	ENSP00000341988:p.Thr909Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.T909S	ENST00000344803.2	37	c.2725	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	T	0.009	-1.812635	0.00600	.	.	ENSG00000214929	ENST00000344803	T	0.38240	1.15	3.09	-6.17	0.02091	.	2.969970	0.00633	N	0.000487	T	0.10078	0.0247	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20042	-1.0287	10	0.18710	T	0.47	13.8535	5.8601	0.18743	0.4281:0.421:0.0:0.1509	.	909	Q6ZQQ2	F75D1_HUMAN	S	909	ENSP00000341988:T909S	ENSP00000341988:T909S	T	+	1	0	FAM75D1	83797930	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.172000	0.16704	-0.828000	0.04273	-2.557000	0.00176	ACT	SPATA31D1	-	NULL		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	A	NM_001001670		84608110	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84608117	84608117	+	Missense_Mutation	SNP	G	G	A	rs111996284	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:84608117G>A	ENST00000344803.2	+	4	2779	c.2732G>A	c.(2731-2733)cGt>cAt	p.R911H		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	911					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAAACTTTCCGTATGAGGATG	0.443																																																	0													51.0	47.0	49.0					9																	84608117		1851	4085	5936	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2732G>A	9.37:g.84608117G>A	ENSP00000341988:p.Arg911His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R911H	ENST00000344803.2	37	c.2732	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	g	1.811	-0.474758	0.04414	.	.	ENSG00000214929	ENST00000344803	T	0.06933	3.24	3.09	-5.58	0.02512	.	3.225700	0.00622	N	0.000447	T	0.06917	0.0176	L	0.31664	0.95	0.09310	N	1	B	0.24651	0.108	B	0.18561	0.022	T	0.27739	-1.0065	10	0.33940	T	0.23	15.0484	10.0014	0.41931	0.3638:0.0:0.6362:0.0	.	911	Q6ZQQ2	F75D1_HUMAN	H	911	ENSP00000341988:R911H	ENSP00000341988:R911H	R	+	2	0	FAM75D1	83797937	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.138000	0.00587	-1.272000	0.02427	-1.345000	0.01243	CGT	SPATA31D1	-	NULL		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84608117	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	A
SPOPL	339745	genome.wustl.edu	37	2	139326556	139326556	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:139326556C>G	ENST00000280098.4	+	11	1464	c.1085C>G	c.(1084-1086)tCt>tGt	p.S362C	AC092620.2_ENST00000458007.2_RNA	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	362					negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATGATTCAGTCTCACCCTCAT	0.403																																																	0													250.0	254.0	253.0					2																	139326556		2203	4300	6503	SO:0001583	missense	339745				CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.1085C>G	2.37:g.139326556C>G	ENSP00000280098:p.Ser362Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH	p.S362C	ENST00000280098.4	37	c.1085	CCDS33298.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954879	0.73902	.	.	ENSG00000144228	ENST00000280098	T	0.72282	-0.64	5.97	5.09	0.68999	.	0.095042	0.85682	D	0.000000	T	0.78660	0.4318	M	0.72624	2.21	0.80722	D	1	D	0.62365	0.991	P	0.52672	0.706	T	0.79841	-0.1633	9	.	.	.	-13.496	17.1939	0.86887	0.0:0.8739:0.1261:0.0	.	362	Q6IQ16	SPOPL_HUMAN	C	362	ENSP00000280098:S362C	.	S	+	2	0	SPOPL	139043026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	1.515000	0.48885	0.655000	0.94253	TCT	SPOPL	-	NULL		0.403	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOPL	HGNC	protein_coding	OTTHUMT00000331897.1	C			139326556	+1	no_errors	ENST00000280098	ensembl	human	known	70_37	missense	SNP	1.000	G
TAS2R19	259294	genome.wustl.edu	37	12	11174657	11174657	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr12:11174657T>C	ENST00000390673.2	-	1	562	c.514A>G	c.(514-516)Ata>Gta	p.I172V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	172					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GAAAGGTGTATTGCATTCCTC	0.363																																																	0													195.0	174.0	181.0					12																	11174657		2203	4300	6503	SO:0001583	missense	259294			AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.514A>G	12.37:g.11174657T>C	ENSP00000375091:p.Ile172Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIJ4|Q645X8	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.I172V	ENST00000390673.2	37	c.514	CCDS8640.1	12	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.286771	0.00248	.	.	ENSG00000212124	ENST00000390673	T	0.00705	5.81	2.49	-4.98	0.03019	.	2.791030	0.02000	N	0.046209	T	0.00440	0.0014	N	0.11255	0.115	0.09310	N	1	B	0.09022	0.002	B	0.14023	0.01	T	0.46289	-0.9202	10	0.02654	T	1	.	1.4453	0.02363	0.1817:0.1453:0.1291:0.5439	.	172	P59542	T2R19_HUMAN	V	172	ENSP00000375091:I172V	ENSP00000375091:I172V	I	-	1	0	TAS2R19	11065924	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.658000	0.00202	-2.161000	0.00785	-0.904000	0.02843	ATA	TAS2R19	-	pfam_TAS2_rcpt		0.363	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R19	HGNC	protein_coding	OTTHUMT00000370080.1	T	NM_176888		11174657	-1	no_errors	ENST00000390673	ensembl	human	known	70_37	missense	SNP	0.000	C
TBC1D3P2	440452	genome.wustl.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																																	0																																												440452					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-		0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	T	NR_027486		60342186	-1	no_errors	ENST00000581291	ensembl	human	known	70_37	rna	SNP	0.062	C
TBL2	26608	genome.wustl.edu	37	7	72984894	72984894	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:72984894C>A	ENST00000305632.5	-	7	1528	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	TBL2_ENST00000432538.1_Missense_Mutation_p.Q393H|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	429							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCAGCTGCTGCTGCAGCCTCT	0.647																																																	0													14.0	15.0	15.0					7																	72984894		2202	4294	6496	SO:0001583	missense	26608			AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.1287G>T	7.37:g.72984894C>A	ENSP00000307260:p.Gln429His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UQE2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q429H	ENST00000305632.5	37	c.1287	CCDS5551.1	7	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215907	0.39201	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.56776	0.44;3.57	5.98	1.49	0.22878	.	0.101955	0.64402	D	0.000002	T	0.34424	0.0897	L	0.31065	0.9	0.80722	D	1	B;B	0.19583	0.013;0.037	B;B	0.12837	0.005;0.008	T	0.11324	-1.0592	10	0.56958	D	0.05	-30.6188	5.22	0.15364	0.1431:0.5076:0.0:0.3493	.	393;429	E9PF19;Q9Y4P3	.;TBL2_HUMAN	H	429;429;393	ENSP00000307260:Q429H;ENSP00000413979:Q393H	ENSP00000307260:Q429H	Q	-	3	2	TBL2	72622830	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.439000	0.35013	0.351000	0.24027	-0.136000	0.14681	CAG	TBL2	-	NULL		0.647	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBL2	HGNC	protein_coding	OTTHUMT00000252233.3	C	NM_012453		72984894	-1	no_errors	ENST00000305632	ensembl	human	known	70_37	missense	SNP	0.998	A
THSD4	79875	genome.wustl.edu	37	15	72040915	72040915	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr15:72040915C>T	ENST00000355327.3	+	14	2531	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Silent_p.L439L|THSD4_ENST00000261862.6_Silent_p.L799L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	799	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCTGGTTCCTCACCGAGTGGA	0.572																																																	0													101.0	112.0	108.0					15																	72040915		2077	4204	6281	SO:0001819	synonymous_variant	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2397C>T	15.37:g.72040915C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Silent	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.L799	ENST00000355327.3	37	c.2397	CCDS10238.2	15																																																																																			THSD4	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.572	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	C	NM_024817		72040915	+1	no_errors	ENST00000261862	ensembl	human	known	70_37	silent	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120475463	120475463	+	Missense_Mutation	SNP	C	C	T	rs148638298		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:120475463C>T	ENST00000355622.6	+	3	1158	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F	TLR4_ENST00000394487.4_Missense_Mutation_p.L313F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	353					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.L353F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	ACTCAAATCTCTCAAAAGGCT	0.353																																																	1	Substitution - Missense(1)	skin(1)											56.0	61.0	59.0					9																	120475463		2202	4300	6502	SO:0001583	missense	7099			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1057C>T	9.37:g.120475463C>T	ENSP00000363089:p.Leu353Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L353F	ENST00000355622.6	37	c.1057	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366985	0.41902	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.66995	-0.24;-0.24	5.56	5.56	0.83823	.	0.000000	0.56097	D	0.000035	T	0.69584	0.3127	L	0.33485	1.01	0.43673	D	0.9961	D	0.89917	1.0	D	0.97110	1.0	T	0.72077	-0.4399	10	0.87932	D	0	.	5.7761	0.18279	0.1892:0.6948:0.0:0.1161	.	353	O00206	TLR4_HUMAN	F	313;353	ENSP00000377997:L313F;ENSP00000363089:L353F	ENSP00000363089:L353F	L	+	1	0	TLR4	119515284	0.978000	0.34361	0.992000	0.48379	0.075000	0.17131	0.711000	0.25764	2.621000	0.88768	0.655000	0.94253	CTC	TLR4	-	pirsf_Toll-like_receptor		0.353	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	C	NM_138554		120475463	+1	no_errors	ENST00000355622	ensembl	human	known	70_37	missense	SNP	0.986	T
TMEM130	222865	genome.wustl.edu	37	7	98452918	98452918	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:98452918G>T	ENST00000416379.2	-	5	752	c.748C>A	c.(748-750)Ccc>Acc	p.P250T	TMEM130_ENST00000339375.4_Missense_Mutation_p.P250T|TMEM130_ENST00000345589.4_Missense_Mutation_p.P148T|TMEM130_ENST00000450876.1_Missense_Mutation_p.P166T|TMEM130_ENST00000546258.1_Missense_Mutation_p.P231T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	250						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTAGGGTGGGCCCCAACACT	0.587																																																	0													127.0	115.0	119.0					7																	98452918		2203	4300	6503	SO:0001583	missense	222865				CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.748C>A	7.37:g.98452918G>T	ENSP00000413163:p.Pro250Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Missense_Mutation	SNP	superfamily_PKD_dom,pfscan_PKD_dom	p.P250T	ENST00000416379.2	37	c.748	CCDS47650.1	7	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621585	0.46736	.	.	ENSG00000166448	ENST00000416379;ENST00000339375;ENST00000450876;ENST00000345589;ENST00000546258	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	4.01	3.11	0.35812	.	0.204155	0.42548	D	0.000690	T	0.17577	0.0422	L	0.51422	1.61	0.09310	N	1	D;P;D;D	0.54964	0.965;0.932;0.965;0.969	P;P;P;P	0.53146	0.719;0.719;0.719;0.7	T	0.05716	-1.0868	10	0.26408	T	0.33	-34.6371	6.8742	0.24137	0.1243:0.0:0.8757:0.0	.	250;231;250;148	Q8N3G9-2;B7Z2F1;Q8N3G9;Q8N3G9-3	.;.;TM130_HUMAN;.	T	250;250;166;148;231	ENSP00000413163:P250T;ENSP00000341256:P250T;ENSP00000390200:P166T;ENSP00000330262:P148T;ENSP00000445869:P231T	ENSP00000341256:P250T	P	-	1	0	TMEM130	98290854	0.905000	0.30787	0.164000	0.22755	0.957000	0.61999	2.637000	0.46553	2.214000	0.71695	0.557000	0.71058	CCC	TMEM130	-	NULL		0.587	TMEM130-008	KNOWN	basic|CCDS	protein_coding	TMEM130	HGNC	protein_coding	OTTHUMT00000380713.1	G	NM_152913		98452918	-1	no_errors	ENST00000416379	ensembl	human	known	70_37	missense	SNP	0.036	T
TNFAIP8L1	126282	genome.wustl.edu	37	19	4652044	4652044	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:4652044G>A	ENST00000536716.1	+	2	309	c.163G>A	c.(163-165)Gag>Aag	p.E55K	TNFAIP8L1_ENST00000327473.4_Missense_Mutation_p.E55K|AC005339.2_ENST00000598070.1_RNA	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	55					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCGCAAGGAGGCCCAGAA	0.662																																																	0													57.0	56.0	57.0					19																	4652044		2203	4299	6502	SO:0001583	missense	126282			BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.163G>A	19.37:g.4652044G>A	ENSP00000444215:p.Glu55Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W627	Missense_Mutation	SNP	pfam_DUF758	p.E55K	ENST00000536716.1	37	c.163	CCDS12132.1	19	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481969	0.84747	.	.	ENSG00000185361	ENST00000327473;ENST00000536716	T;T	0.35236	1.32;1.32	4.44	4.44	0.53790	.	0.000000	0.85682	U	0.000000	T	0.58581	0.2132	M	0.70903	2.155	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.58885	-0.7557	10	0.35671	T	0.21	0.4136	16.0503	0.80755	0.0:0.0:1.0:0.0	.	55	Q8WVP5	TP8L1_HUMAN	K	55	ENSP00000331827:E55K;ENSP00000444215:E55K	ENSP00000331827:E55K	E	+	1	0	TNFAIP8L1	4603044	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.450000	0.97607	2.025000	0.59659	0.462000	0.41574	GAG	TNFAIP8L1	-	pfam_DUF758		0.662	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	HGNC	protein_coding	OTTHUMT00000458662.1	G	NM_152362		4652044	+1	no_errors	ENST00000327473	ensembl	human	known	70_37	missense	SNP	1.000	A
TP63	8626	genome.wustl.edu	37	3	189526299	189526299	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr3:189526299A>T	ENST00000264731.3	+	4	652	c.563A>T	c.(562-564)aAg>aTg	p.K188M	TP63_ENST00000392461.3_Missense_Mutation_p.K94M|TP63_ENST00000440651.2_Missense_Mutation_p.K188M|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Missense_Mutation_p.K94M|TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Missense_Mutation_p.K188M|TP63_ENST00000392463.2_Missense_Mutation_p.K94M|TP63_ENST00000354600.5_Missense_Mutation_p.K94M|TP63_ENST00000437221.1_Missense_Mutation_p.K94M|TP63_ENST00000320472.5_Missense_Mutation_p.K188M|TP63_ENST00000392460.3_Missense_Mutation_p.K188M	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	188					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCACCGCCAAGTCGGCCACC	0.627										HNSCC(45;0.13)																																							0													99.0	83.0	89.0					3																	189526299		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.563A>T	3.37:g.189526299A>T	ENSP00000264731:p.Lys188Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.K188M	ENST00000264731.3	37	c.563	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704883	0.88924	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000354600;ENST00000434928;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D	0.99861	-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26;-7.26	5.71	5.71	0.89125	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.90019	3.08	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;0.999;1.0;0.999;1.0;0.999	D	0.96409	0.9303	9	.	.	.	-4.6965	15.1602	0.72778	1.0:0.0:0.0:0.0	.	188;188;94;94;94;94;188;188;188	Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;P63_HUMAN;.	M	188;188;188;188;188;94;94;94;94;94;94	ENSP00000264731:K188M;ENSP00000407144:K188M;ENSP00000317510:K188M;ENSP00000376253:K188M;ENSP00000394337:K188M;ENSP00000346614:K94M;ENSP00000401661:K94M;ENSP00000392488:K94M;ENSP00000376256:K94M;ENSP00000376254:K94M;ENSP00000389485:K94M	.	K	+	2	0	TP63	191008993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.182000	0.69389	0.460000	0.39030	AAG	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.627	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	A	NM_003722		189526299	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	T
TRUB2	26995	genome.wustl.edu	37	9	131072104	131072104	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr9:131072104C>G	ENST00000372890.4	-	8	1054	c.721G>C	c.(721-723)Gaa>Caa	p.E241Q	TRUB2_ENST00000546104.1_Missense_Mutation_p.E185Q|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	241					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGGCCGATTTCATGAACCAAC	0.577																																																	0													127.0	103.0	111.0					9																	131072104		2203	4300	6503	SO:0001583	missense	26995			AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.721G>C	9.37:g.131072104C>G	ENSP00000361982:p.Glu241Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7G5	Missense_Mutation	SNP	pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom	p.E241Q	ENST00000372890.4	37	c.721	CCDS6897.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004364	0.74932	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.14266	2.52;2.52	5.56	5.56	0.83823	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.43491	-0.9388	10	0.87932	D	0	-23.5751	19.5251	0.95201	0.0:1.0:0.0:0.0	.	241	O95900	TRUB2_HUMAN	Q	241;185	ENSP00000361982:E241Q;ENSP00000438084:E185Q	ENSP00000361982:E241Q	E	-	1	0	TRUB2	130111925	1.000000	0.71417	0.976000	0.42696	0.195000	0.23768	6.782000	0.75073	2.613000	0.88420	0.561000	0.74099	GAA	TRUB2	-	superfamily_PsdUridine_synth_cat_dom		0.577	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRUB2	HGNC	protein_coding	OTTHUMT00000054419.1	C	NM_015679		131072104	-1	no_errors	ENST00000372890	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179443955	179443955	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:179443955G>A	ENST00000591111.1	-	270	63103	c.62879C>T	c.(62878-62880)tCa>tTa	p.S20960L	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20033L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S13661L|TTN_ENST00000460472.2_Missense_Mutation_p.S13536L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S13728L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S22601L			Q8WZ42	TITIN_HUMAN	titin	20960	Ig-like 112.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCGCAGATGACTCAACACT	0.448																																																	0													122.0	119.0	120.0					2																	179443955		1953	4141	6094	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62879C>T	2.37:g.179443955G>A	ENSP00000465570:p.Ser20960Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S20033L	ENST00000591111.1	37	c.60098		2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.094372	0.56075	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.98	5.98	0.97165	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68366	0.2993	L	0.52011	1.625	0.80722	D	1	B;B;B;B	0.21905	0.062;0.062;0.062;0.062	B;B;B;B	0.30716	0.119;0.119;0.119;0.119	T	0.64643	-0.6359	9	0.87932	D	0	.	20.4293	0.99080	0.0:0.0:1.0:0.0	.	13536;13661;13728;20960	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	20033;13536;13728;13661;13534	ENSP00000343764:S20033L;ENSP00000434586:S13536L;ENSP00000340554:S13728L;ENSP00000352154:S13661L	ENSP00000340554:S13728L	S	-	2	0	TTN	179152201	1.000000	0.71417	0.970000	0.41538	0.924000	0.55760	9.807000	0.99171	2.833000	0.97629	0.655000	0.94253	TCA	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2		0.448	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179443955	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179633660	179633660	+	Splice_Site	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr2:179633660G>A	ENST00000591111.1	-	38	9127	c.8903C>T	c.(8902-8904)cCa>cTa	p.P2968L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site_p.P2968L|TTN_ENST00000359218.5_Splice_Site_p.P2922L|TTN_ENST00000460472.2_Splice_Site_p.P2922L|TTN_ENST00000360870.5_Splice_Site_p.P2968L|TTN_ENST00000342175.6_Splice_Site_p.P2922L|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Splice_Site_p.P2968L			Q8WZ42	TITIN_HUMAN	titin	13298	Ig-like 17.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATGATTGCTGCAAAGGA	0.363																																																	0													86.0	82.0	84.0					2																	179633660		2203	4300	6503	SO:0001630	splice_region_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8903-1C>T	2.37:g.179633660G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P2968L	ENST00000591111.1	37	c.8903		2	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158442	0.57368	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64991	-0.13;-0.06;-0.01;-0.09;-0.07	5.45	5.45	0.79879	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81955	0.4932	M	0.84219	2.685	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.997;0.997;0.997;1.0	D	0.84023	0.0355	9	0.87932	D	0	.	19.628	0.95687	0.0:0.0:1.0:0.0	.	2922;2922;2922;2968;2968	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	2968;2922;2922;2922;2922;2968	ENSP00000343764:P2968L;ENSP00000434586:P2922L;ENSP00000340554:P2922L;ENSP00000352154:P2922L;ENSP00000354117:P2968L	ENSP00000340554:P2922L	P	-	2	0	TTN	179341905	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.360000	0.97119	2.714000	0.92807	0.563000	0.77884	CCA	TTN	-	superfamily_RNaseH-like_dom		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378	Missense_Mutation	179633660	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC5CL	222643	genome.wustl.edu	37	6	40996165	40996165	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr6:40996165C>T	ENST00000373164.1	-	8	1564	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	UNC5CL_ENST00000244565.3_Missense_Mutation_p.E502K|UNC5CL_ENST00000470102.1_5'UTR			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	502					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCGCGCTCGGGGCCTGGG	0.697											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													12.0	14.0	13.0					6																	40996165		2173	4250	6423	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.1504G>A	6.37:g.40996165C>T	ENSP00000362258:p.Glu502Lys	Somatic	897	WXS	Illumina HiSeq	Phase_IV	Q5TGU1	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.E502K	ENST00000373164.1	37	c.1504	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	C	4.664	0.123417	0.08931	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.13778	2.56;2.56	4.32	-8.64	0.00874	.	4.313200	0.00744	N	0.001035	T	0.01320	0.0043	N	0.08118	0	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.31833	-0.9929	10	0.14252	T	0.57	0.6004	6.1687	0.20404	0.223:0.1687:0.5266:0.0816	.	502	Q8IV45	UN5CL_HUMAN	K	502	ENSP00000244565:E502K;ENSP00000362258:E502K	ENSP00000244565:E502K	E	-	1	0	UNC5CL	41104143	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.977000	0.01495	-1.294000	0.02360	-1.129000	0.01985	GAG	UNC5CL	-	NULL		0.697	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	C	NM_173561		40996165	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	missense	SNP	0.000	T
ZBED4	9889	genome.wustl.edu	37	22	50278464	50278464	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr22:50278464C>T	ENST00000216268.5	+	2	1631	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	385						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GAGTCCCCTTCGGCCTCCTCC	0.612																																																	0													51.0	56.0	54.0					22																	50278464		2203	4299	6502	SO:0001583	missense	9889			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.1154C>T	22.37:g.50278464C>T	ENSP00000216268:p.Ser385Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S385L	ENST00000216268.5	37	c.1154	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	13.10	2.135570	0.37728	.	.	ENSG00000100426	ENST00000216268	T	0.41065	1.01	5.18	5.18	0.71444	.	0.385307	0.27327	N	0.019870	T	0.42177	0.1191	L	0.54323	1.7	0.21445	N	0.999686	B	0.26809	0.16	B	0.17722	0.019	T	0.40590	-0.9555	10	0.59425	D	0.04	-14.1376	18.8805	0.92354	0.0:1.0:0.0:0.0	.	385	O75132	ZBED4_HUMAN	L	385	ENSP00000216268:S385L	ENSP00000216268:S385L	S	+	2	0	ZBED4	48664468	0.176000	0.23096	0.081000	0.20488	0.039000	0.13416	1.874000	0.39568	2.707000	0.92482	0.655000	0.94253	TCG	ZBED4	-	NULL		0.612	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	C	NM_014838		50278464	+1	no_errors	ENST00000216268	ensembl	human	known	70_37	missense	SNP	0.170	T
ZBTB10	65986	genome.wustl.edu	37	8	81411855	81411855	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr8:81411855A>T	ENST00000430430.1	+	3	1878	c.1099A>T	c.(1099-1101)Agc>Tgc	p.S367C	ZBTB10_ENST00000379091.4_Missense_Mutation_p.S75C|ZBTB10_ENST00000455036.3_Missense_Mutation_p.S367C|ZBTB10_ENST00000426744.2_Missense_Mutation_p.S367C	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	367	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGTGATGTCAGCATTGTGGT	0.368																																																	0													70.0	71.0	71.0					8																	81411855		1890	4119	6009	SO:0001583	missense	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.1099A>T	8.37:g.81411855A>T	ENSP00000387462:p.Ser367Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S367C	ENST00000430430.1	37	c.1099	CCDS47880.1	8	.	.	.	.	.	.	.	.	.	.	A	14.27	2.483987	0.44147	.	.	ENSG00000205189	ENST00000379091;ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.54	4.18	0.49190	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.101962	0.64402	D	0.000006	T	0.61438	0.2347	N	0.13299	0.325	0.37760	D	0.926304	D;D;D;D	0.69078	0.97;0.997;0.993;0.997	P;P;P;P	0.60173	0.84;0.87;0.724;0.849	T	0.61287	-0.7093	10	0.22109	T	0.4	.	12.0058	0.53259	0.9216:0.0:0.0784:0.0	.	223;367;367;75	A8E4L4;Q96DT7;Q96DT7-2;Q96DT7-4	.;ZBT10_HUMAN;.;.	C	75;367;367;367;195	ENSP00000368384:S75C;ENSP00000387462:S367C;ENSP00000412036:S367C;ENSP00000416134:S367C	ENSP00000368384:S75C	S	+	1	0	ZBTB10	81574410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.144000	0.77357	2.113000	0.64589	0.528000	0.53228	AGC	ZBTB10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.368	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZBTB10	HGNC	protein_coding	OTTHUMT00000338055.2	A	NM_023929		81411855	+1	no_errors	ENST00000426744	ensembl	human	known	70_37	missense	SNP	1.000	T
ZIC5	85416	genome.wustl.edu	37	13	100622636	100622636	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr13:100622636A>T	ENST00000267294.4	-	1	1527	c.1294T>A	c.(1294-1296)Tcc>Acc	p.S432T		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	432					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAGTTTTGGAGCAGGGCTTG	0.736																																																	0													26.0	26.0	26.0					13																	100622636		2203	4299	6502	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1294T>A	13.37:g.100622636A>T	ENSP00000267294:p.Ser432Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYB0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S432T	ENST00000267294.4	37	c.1294	CCDS9494.2	13	.	.	.	.	.	.	.	.	.	.	A	14.82	2.650361	0.47362	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.50001	0.76	3.86	2.63	0.31362	Zinc finger, C2H2-like (1);	.	.	.	.	T	0.32763	0.0840	L	0.29908	0.895	0.42902	D	0.994236	B	0.23990	0.095	B	0.21917	0.037	T	0.07927	-1.0747	9	0.37606	T	0.19	.	8.4325	0.32766	0.8248:0.0:0.0:0.1752	.	432	Q96T25	ZIC5_HUMAN	T	70;432	ENSP00000267294:S432T	ENSP00000267294:S432T	S	-	1	0	ZIC5	99420637	0.997000	0.39634	0.997000	0.53966	0.921000	0.55340	0.941000	0.29005	0.502000	0.28037	0.247000	0.18012	TCC	ZIC5	-	smart_Znf_C2H2-like		0.736	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZIC5	HGNC	protein_coding	OTTHUMT00000045623.3	A	NM_033132		100622636	-1	no_errors	ENST00000267294	ensembl	human	novel	70_37	missense	SNP	1.000	T
ZNF107	51427	genome.wustl.edu	37	7	64168019	64168019	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168019A>G	ENST00000395391.1	+	4	2712	c.1337A>G	c.(1336-1338)gAc>gGc	p.D446G	ZNF107_ENST00000344930.3_Missense_Mutation_p.D446G|ZNF107_ENST00000423627.1_Missense_Mutation_p.D446G			Q9UII5	ZN107_HUMAN	zinc finger protein 107	446					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAAGAATGTGACAGAGCTTTT	0.363																																																	0													28.0	31.0	30.0					7																	64168019		2194	4295	6489	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1337A>G	7.37:g.64168019A>G	ENSP00000378789:p.Asp446Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D446G	ENST00000395391.1	37	c.1337	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	3.638	-0.074150	0.07184	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07444	3.19;3.19;3.19	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.00355	-1.605	0.22446	N	0.9991	B	0.06786	0.001	B	0.01281	0.0	T	0.47114	-0.9142	8	.	.	.	.	5.5135	0.16894	0.2167:0.0:0.7833:0.0	.	446	Q9UII5	ZN107_HUMAN	G	446	ENSP00000343443:D446G;ENSP00000400037:D446G;ENSP00000378789:D446G	.	D	+	2	0	ZNF107	63805454	0.707000	0.27866	0.080000	0.20451	0.910000	0.53928	0.942000	0.29017	-0.185000	0.10550	-0.642000	0.03964	GAC	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168019	+1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.987	G
ZNF107	51427	genome.wustl.edu	37	7	64168022	64168022	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168022G>A	ENST00000395391.1	+	4	2715	c.1340G>A	c.(1339-1341)aGa>aAa	p.R447K	ZNF107_ENST00000344930.3_Missense_Mutation_p.R447K|ZNF107_ENST00000423627.1_Missense_Mutation_p.R447K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	447					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				GAATGTGACAGAGCTTTTAGC	0.368																																																	0													28.0	30.0	29.0					7																	64168022		2194	4295	6489	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1340G>A	7.37:g.64168022G>A	ENSP00000378789:p.Arg447Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R447K	ENST00000395391.1	37	c.1340	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	6.164	0.398381	0.11696	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.11495	2.77;2.77;2.77	1.27	-0.77	0.11005	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00190	-1.885	0.22171	N	0.99931	B	0.19935	0.04	B	0.15484	0.013	T	0.45659	-0.9246	8	.	.	.	.	4.4148	0.11450	0.7143:0.0:0.2857:0.0	.	447	Q9UII5	ZN107_HUMAN	K	447	ENSP00000343443:R447K;ENSP00000400037:R447K;ENSP00000378789:R447K	.	R	+	2	0	ZNF107	63805457	0.158000	0.22850	0.049000	0.19019	0.911000	0.54048	1.916000	0.39986	-0.186000	0.10533	0.313000	0.20887	AGA	ZNF107	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	G	NM_016220		64168022	+1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.891	A
ZNF107	51427	genome.wustl.edu	37	7	64168637	64168637	+	Missense_Mutation	SNP	A	A	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168637A>C	ENST00000395391.1	+	4	3330	c.1955A>C	c.(1954-1956)aAt>aCt	p.N652T	ZNF107_ENST00000344930.3_Missense_Mutation_p.N652T|ZNF107_ENST00000423627.1_Missense_Mutation_p.N652T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	652					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)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TCAACCCTTAATAGACATAAG	0.368																																																	0													30.0	34.0	33.0					7																	64168637		2187	4293	6480	SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1955A>C	7.37:g.64168637A>C	ENSP00000378789:p.Asn652Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.N652T	ENST00000395391.1	37	c.1955	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	1.528	-0.545101	0.04024	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.35421	1.31;1.31;1.31	1.27	-2.54	0.06307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.15484	0.013	T	0.24368	-1.0162	8	.	.	.	.	2.3561	0.04296	0.5097:0.2444:0.0:0.2459	.	652	Q9UII5	ZN107_HUMAN	T	652	ENSP00000343443:N652T;ENSP00000400037:N652T;ENSP00000378789:N652T	.	N	+	2	0	ZNF107	63806072	0.000000	0.05858	0.047000	0.18901	0.912000	0.54170	-2.276000	0.01161	-0.453000	0.07076	0.260000	0.18958	AAT	ZNF107	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168637	+1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.339	C
ZNF107	51427	genome.wustl.edu	37	7	64168681	64168681	+	Missense_Mutation	SNP	A	A	G	rs141851083		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64168681A>G	ENST00000395391.1	+	4	3374	c.1999A>G	c.(1999-2001)Aaa>Gaa	p.K667E	ZNF107_ENST00000344930.3_Missense_Mutation_p.K667E|ZNF107_ENST00000423627.1_Missense_Mutation_p.K667E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	667					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K667E(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTACAAATGTAAAGAATGTGG	0.378																																																	1	Substitution - Missense(1)	stomach(1)																																								SO:0001583	missense	51427			AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1999A>G	7.37:g.64168681A>G	ENSP00000378789:p.Lys667Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K667E	ENST00000395391.1	37	c.1999	CCDS5527.1	7	.	.	.	.	.	.	.	.	.	.	.	7.048	0.563795	0.13498	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.07567	3.18;3.18;3.18	1.27	-2.54	0.06307	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02342	0.0072	N	0.01631	-0.79	0.09310	N	1	B	0.19935	0.04	B	0.20955	0.032	T	0.47898	-0.9081	8	.	.	.	.	5.4449	0.16529	0.5546:0.4453:0.0:0.0	.	667	Q9UII5	ZN107_HUMAN	E	667	ENSP00000343443:K667E;ENSP00000400037:K667E;ENSP00000378789:K667E	.	K	+	1	0	ZNF107	63806116	0.000000	0.05858	0.424000	0.26647	0.975000	0.68041	-6.845000	0.00052	-0.453000	0.07076	0.260000	0.18958	AAA	ZNF107	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF107	HGNC	protein_coding	OTTHUMT00000251593.1	A	NM_016220		64168681	+1	no_errors	ENST00000344930	ensembl	human	known	70_37	missense	SNP	0.104	G
ZNF117	51351	genome.wustl.edu	37	7	64439463	64439463	+	Silent	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:64439463T>C	ENST00000282869.6	-	4	1770	c.486A>G	c.(484-486)gaA>gaG	p.E162E		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117	162					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGTAAGGTTTTTCTCCAGTAT	0.358																																																	0													48.0	50.0	49.0					7																	64439463		2143	4266	6409	SO:0001819	synonymous_variant	51351			M27879	CCDS43593.1	7q11.2	2013-01-08	2006-06-12		ENSG00000152926	ENSG00000152926		"""Zinc fingers, C2H2-type"""	12897	protein-coding gene	gene with protein product		194624	"""zinc finger protein 117 (HPF9)"""			1427907	Standard	NM_015852		Approved	HPF9, H-plk	uc003ttr.2	Q03924	OTTHUMG00000156631	ENST00000282869.6:c.486A>G	7.37:g.64439463T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q02313|Q7Z7Q7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E162	ENST00000282869.6	37	c.486	CCDS43593.1	7																																																																																			ZNF117	-	pfscan_Znf_C2H2		0.358	ZNF117-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF117	HGNC	protein_coding	OTTHUMT00000344863.3	T	NM_024498		64439463	-1	no_errors	ENST00000282869	ensembl	human	known	70_37	silent	SNP	0.999	C
ZNF14	7561	genome.wustl.edu	37	19	19823160	19823160	+	Silent	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:19823160T>C	ENST00000344099.3	-	4	1068	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCCACATTCTTTACATTCAT	0.383																																																	0													44.0	44.0	44.0					19																	19823160		2203	4300	6503	SO:0001819	synonymous_variant	7561			AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.930A>G	19.37:g.19823160T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGA4|Q9ULZ5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K310	ENST00000344099.3	37	c.930	CCDS12409.1	19																																																																																			ZNF14	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF14	HGNC	protein_coding	OTTHUMT00000460775.1	T	NM_021030		19823160	-1	no_errors	ENST00000344099	ensembl	human	known	70_37	silent	SNP	0.001	C
ZNF141	7700	genome.wustl.edu	37	4	367245	367245	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:367245C>A	ENST00000240499.7	+	4	1168	c.1019C>A	c.(1018-1020)aCa>aAa	p.T340K	ZNF141_ENST00000512994.1_Intron|ZNF141_ENST00000505939.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	340					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAACCCTACACATGTGAAGAA	0.408																																																	0																																										SO:0001583	missense	7700			L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.1019C>A	4.37:g.367245C>A	ENSP00000240499:p.Thr340Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DK07	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T340K	ENST00000240499.7	37	c.1019	CCDS33931.1	4	.	.	.	.	.	.	.	.	.	.	C	0.808	-0.753077	0.03041	.	.	ENSG00000131127	ENST00000240499	T	0.16597	2.33	1.24	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04227	0.0117	N	0.01168	-0.975	0.09310	N	1	B	0.06786	0.001	B	0.17098	0.017	T	0.43393	-0.9394	8	.	.	.	.	3.5892	0.07982	0.0:0.5135:0.2591:0.2274	.	340	Q15928	ZN141_HUMAN	K	340	ENSP00000240499:T340K	.	T	+	2	0	ZNF141	357245	0.000000	0.05858	0.094000	0.20943	0.859000	0.49053	-2.017000	0.01445	-0.228000	0.09869	0.313000	0.20887	ACA	ZNF141	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF141	HGNC	protein_coding	OTTHUMT00000357710.1	C	NM_003441		367245	+1	no_errors	ENST00000240499	ensembl	human	known	70_37	missense	SNP	0.034	A
ZNF208	7757	genome.wustl.edu	37	19	22155563	22155563	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22155563T>A	ENST00000397126.4	-	4	2421	c.2273A>T	c.(2272-2274)tAt>tTt	p.Y758F	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGACCACTTATAGGCTTTGCC	0.373																																																	0													30.0	32.0	32.0					19																	22155563		1959	4163	6122	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2273A>T	19.37:g.22155563T>A	ENSP00000380315:p.Tyr758Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y758F	ENST00000397126.4	37	c.2273	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.370494	0.00209	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.03496	3.91	2.13	-0.478	0.12093	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01730	0.0055	.	.	.	0.09310	N	1	B	0.13145	0.007	B	0.22880	0.042	T	0.47433	-0.9118	8	0.02654	T	1	.	6.3956	0.21611	0.6138:0.0:0.0:0.3862	.	658	O43345	ZN208_HUMAN	F	758;658	ENSP00000380315:Y758F	ENSP00000380315:Y758F	Y	-	2	0	ZNF208	21947403	0.005000	0.15991	0.000000	0.03702	0.008000	0.06430	-2.586000	0.00902	-2.234000	0.00715	-2.288000	0.00268	TAT	ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	T	NM_007153		22155563	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	missense	SNP	0.003	A
ZNF208	7757	genome.wustl.edu	37	19	22156021	22156021	+	Silent	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22156021A>T	ENST00000397126.4	-	4	1963	c.1815T>A	c.(1813-1815)ggT>ggA	p.G605G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	605					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G605G(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGGGTTTCTCACCAGTATGAA	0.363																																																	1	Substitution - coding silent(1)	stomach(1)											55.0	58.0	57.0					19																	22156021		2090	4239	6329	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1815T>A	19.37:g.22156021A>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G605	ENST00000397126.4	37	c.1815	CCDS54240.1	19																																																																																			ZNF208	-	pfscan_Znf_C2H2		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	A	NM_007153		22156021	-1	no_errors	ENST00000397126	ensembl	human	novel	70_37	silent	SNP	0.947	T
ZNF217	7764	genome.wustl.edu	37	20	52198399	52198399	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr20:52198399C>T	ENST00000371471.2	-	2	1392	c.967G>A	c.(967-969)Gac>Aac	p.D323N	ZNF217_ENST00000302342.3_Missense_Mutation_p.D323N|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	323			D -> N (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.D323N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCGTCGTTGTCGGTGCTCCCT	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)											139.0	132.0	134.0					20																	52198399		2203	4300	6503	SO:0001583	missense	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.967G>A	20.37:g.52198399C>T	ENSP00000360526:p.Asp323Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D323N	ENST00000371471.2	37	c.967	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411223	0.42817	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.09723	2.95;2.95	5.7	5.7	0.88788	.	0.054494	0.64402	D	0.000001	T	0.33731	0.0873	M	0.76002	2.32	0.47341	D	0.99939	D	0.89917	1.0	D	0.91635	0.999	T	0.01042	-1.1471	10	0.27785	T	0.31	-52.1519	17.6057	0.88036	0.0:1.0:0.0:0.0	.	323	O75362	ZN217_HUMAN	N	323	ENSP00000360526:D323N;ENSP00000304308:D323N	ENSP00000304308:D323N	D	-	1	0	ZNF217	51631806	1.000000	0.71417	0.963000	0.40424	0.310000	0.27922	5.639000	0.67868	2.686000	0.91538	0.591000	0.81541	GAC	ZNF217	-	NULL		0.532	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	C	NM_006526		52198399	-1	no_errors	ENST00000302342	ensembl	human	known	70_37	missense	SNP	0.996	T
ZNF23	7571	genome.wustl.edu	37	16	71483747	71483748	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr16:71483747_71483748insT	ENST00000393539.2	-	6	993_994	c.180_181insA	c.(178-183)tatgaafs	p.E61fs	ZNF23_ENST00000357254.4_Frame_Shift_Ins_p.E61fs|ZNF23_ENST00000417828.1_Frame_Shift_Ins_p.E61fs|ZNF23_ENST00000358700.2_3'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Frame_Shift_Ins_p.E3fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000564528.1_Frame_Shift_Ins_p.E3fs|ZNF23_ENST00000497160.1_3'UTR	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	61					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)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TCTTTTCCTTCATACATTTCCT	0.337																																																	0																																										SO:0001589	frameshift_variant	7571			X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.180_181insA	16.37:g.71483747_71483748insT	ENSP00000377171:p.Glu61fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDP5|Q96IT3|Q9UG42	Frame_Shift_Ins	INS	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E60fs	ENST00000393539.2	37	c.181_180	CCDS10900.1	16																																																																																			ZNF23	-	NULL		0.337	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF23	HGNC	protein_coding	OTTHUMT00000268985.23	-	NM_145911		71483748	-1	no_errors	ENST00000357254	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
ZNF431	170959	genome.wustl.edu	37	19	21365885	21365885	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21365885T>A	ENST00000311048.7	+	5	923	c.779T>A	c.(778-780)tTc>tAc	p.F260Y	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	260					cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						GAGAAACCCTTCAAATGTGAA	0.368																																																	0													42.0	46.0	45.0					19																	21365885		2196	4290	6486	SO:0001583	missense	170959			AB075849	CCDS32979.1	19p12	2013-01-08				ENSG00000196705		"""Zinc fingers, C2H2-type"", ""-"""	20809	protein-coding gene	gene with protein product						11853319	Standard	NM_133473		Approved	KIAA1969	uc002npp.2	Q8TF32		ENST00000311048.7:c.779T>A	19.37:g.21365885T>A	ENSP00000308578:p.Phe260Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAK7|Q8IWC4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F260Y	ENST00000311048.7	37	c.779	CCDS32979.1	19	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.720845	0.00700	.	.	ENSG00000196705	ENST00000311048	T	0.17054	2.3	1.0	-2.01	0.07410	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	N	0.12443	0.215	0.09310	N	1	B	0.09022	0.002	B	0.15052	0.012	T	0.40776	-0.9545	9	0.02654	T	1	.	4.8123	0.13349	0.4738:0.0:0.0:0.5262	.	260	Q8TF32	ZN431_HUMAN	Y	260	ENSP00000308578:F260Y	ENSP00000308578:F260Y	F	+	2	0	ZNF431	21157725	0.000000	0.05858	0.959000	0.39883	0.954000	0.61252	-0.713000	0.05007	-0.667000	0.05303	-0.735000	0.03563	TTC	ZNF431	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF431-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF431	HGNC	protein_coding	OTTHUMT00000463943.1	T	XM_086098		21365885	+1	no_errors	ENST00000311048	ensembl	human	known	70_37	missense	SNP	0.172	A
ZNF429	353088	genome.wustl.edu	37	19	21720463	21720463	+	Silent	SNP	T	T	C	rs112131328	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21720463T>C	ENST00000358491.4	+	4	1816	c.1608T>C	c.(1606-1608)ccT>ccC	p.P536P	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	536					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(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						GAGAGAAACCTTACAAATGTG	0.363																																																	0													40.0	45.0	43.0					19																	21720463		2132	4267	6399	SO:0001819	synonymous_variant	353088			AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1608T>C	19.37:g.21720463T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLV7|Q9BZE6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P536	ENST00000358491.4	37	c.1608	CCDS42537.1	19																																																																																			ZNF429	-	pfscan_Znf_C2H2		0.363	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF429	HGNC	protein_coding	OTTHUMT00000463981.1	T	NM_001001415		21720463	+1	no_errors	ENST00000358491	ensembl	human	novel	70_37	silent	SNP	0.053	C
ZNF43	7594	genome.wustl.edu	37	19	21991061	21991062	+	Missense_Mutation	DNP	AA	AA	GG			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21991061_21991062AA>GG	ENST00000354959.4	-	4	1946_1947	c.1777_1778TT>CC	c.(1777-1779)TTc>CCc	p.F593P	ZNF43_ENST00000595461.1_Missense_Mutation_p.F587P|ZNF43_ENST00000594012.1_Missense_Mutation_p.F587P|ZNF43_ENST00000598381.1_Missense_Mutation_p.F587P	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	593					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTTGTAGAATTTCTCTCCA	0.356																																																	0																																										SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1777_1778delinsGG	19.37:g.21991061_21991062delinsGG	ENSP00000347045:p.Phe593Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F593S|p.F593L	ENST00000354959.4	37	c.1778|c.1777	CCDS12413.2	19																																																																																			ZNF43	-	pfscan_Znf_C2H2		0.356	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	HGNC	protein_coding	OTTHUMT00000250380.2	A	NM_003423		21991061|21991062	-1	no_errors	ENST00000354959	ensembl	human	known	70_37	missense	SNP	0.994|0.999	G
ZNF257	113835	genome.wustl.edu	37	19	22271297	22271297	+	Missense_Mutation	SNP	G	G	A	rs551638906	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22271297G>A	ENST00000594947.1	+	4	889	c.745G>A	c.(745-747)Gta>Ata	p.V249I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCAACATAAGGTAATTCATAC	0.383													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19510	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.745G>A	19.37:g.22271297G>A	ENSP00000470209:p.Val249Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V249I	ENST00000594947.1	37	c.745	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064924	0.07273	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.216	0.13153	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	N	0.03281	-0.365	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.21552	-1.0242	8	0.33940	T	0.23	.	5.1778	0.15145	0.8117:0.0:0.1883:0.0	.	249	Q9Y2Q1	ZN257_HUMAN	I	249;221	.	ENSP00000380312:V221I	V	+	1	0	ZNF257	22063137	0.000000	0.05858	0.007000	0.13788	0.096000	0.18686	-6.248000	0.00074	-0.502000	0.06596	-0.959000	0.02639	GTA	ZNF257	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	G			22271297	+1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.505	A
ZNF254	9534	genome.wustl.edu	37	19	24309583	24309583	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:24309583G>A	ENST00000357002.4	+	4	896	c.781G>A	c.(781-783)Gct>Act	p.A261T	ZNF254_ENST00000342944.6_Missense_Mutation_p.A176T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	261					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATAATTCATGCTGGAGAGAA	0.328																																																	0													34.0	35.0	35.0					19																	24309583		2203	4298	6501	SO:0001583	missense	9534			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.781G>A	19.37:g.24309583G>A	ENSP00000349494:p.Ala261Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QPC0|Q86XL7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A261T	ENST00000357002.4	37	c.781	CCDS32983.1	19	.	.	.	.	.	.	.	.	.	.	G	0.213	-1.035291	0.02029	.	.	ENSG00000213096	ENST00000342944;ENST00000357002;ENST00000392281	T;T	0.11712	2.75;2.75	1.11	-0.0651	0.13770	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01489	0.0048	N	0.00113	-2.09	0.23168	N	0.998189	B	0.06786	0.001	B	0.04013	0.001	T	0.47471	-0.9115	9	0.02654	T	1	.	3.3206	0.07049	0.5605:0.0:0.4395:0.0	.	261	O75437	ZN254_HUMAN	T	176;261;261	ENSP00000445527:A176T;ENSP00000349494:A261T	ENSP00000445527:A176T	A	+	1	0	ZNF254	24101423	0.871000	0.30034	0.035000	0.18076	0.256000	0.26092	1.424000	0.34848	0.530000	0.28619	0.305000	0.20034	GCT	ZNF254	-	pfscan_Znf_C2H2		0.328	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1	G	NM_004876		24309583	+1	no_errors	ENST00000357002	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF479	90827	genome.wustl.edu	37	7	57188077	57188077	+	Missense_Mutation	SNP	T	T	C	rs560371254	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:57188077T>C	ENST00000331162.4	-	5	1315	c.1045A>G	c.(1045-1047)Aga>Gga	p.R349G		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R349G(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTTTCTCTCTAGTATGAATT	0.438													.|||	3	0.000599042	0.0	0.0029	5008	,	,		21578	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	ovary(1)																																								SO:0001583	missense	90827			AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1045A>G	7.37:g.57188077T>C	ENSP00000333776:p.Arg349Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R349G	ENST00000331162.4	37	c.1045	CCDS43590.1	7	.	.	.	.	.	.	.	.	.	.	N	0.009	-1.820834	0.00595	.	.	ENSG00000185177	ENST00000331162	T	0.11495	2.77	0.946	-0.24	0.13047	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.00265	-1.74	0.22745	N	0.998782	B	0.02656	0.0	B	0.01281	0.0	T	0.35992	-0.9766	9	0.02654	T	1	.	6.684	0.23134	0.0:0.7699:0.0:0.2301	.	349	Q96JC4	ZN479_HUMAN	G	349	ENSP00000333776:R349G	ENSP00000333776:R349G	R	-	1	2	ZNF479	57192019	0.003000	0.15002	0.015000	0.15790	0.013000	0.08279	1.442000	0.35046	-2.200000	0.00747	-2.221000	0.00296	AGA	ZNF479	-	pfscan_Znf_C2H2		0.438	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF479	HGNC	protein_coding	OTTHUMT00000345302.1	T	XM_291202		57188077	-1	no_errors	ENST00000331162	ensembl	human	known	70_37	missense	SNP	0.998	C
ZNF486	90649	genome.wustl.edu	37	19	20308380	20308380	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20308380C>T	ENST00000335117.8	+	4	918	c.861C>T	c.(859-861)atC>atT	p.I287I	CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						ATAAGATAATCCATACTGGAG	0.368																																																	0													48.0	52.0	51.0					19																	20308380		2158	4273	6431	SO:0001819	synonymous_variant	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.861C>T	19.37:g.20308380C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VG00	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I287	ENST00000335117.8	37	c.861	CCDS46029.1	19																																																																																			ZNF486	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	C	NM_052852		20308380	+1	no_errors	ENST00000335117	ensembl	human	known	70_37	silent	SNP	0.086	T
ZNF595	152687	genome.wustl.edu	37	4	86669	86669	+	3'UTR	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:86669G>A	ENST00000339368.6	+	0	1478							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCCTACACGTGCGAAGAAT	0.393																																																	0													33.0	36.0	35.0					4																	86669		2135	4274	6409	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1475G>A	4.37:g.86669G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.393	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	G	NM_182524		86669	+1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.004	A
ZNF595	152687	genome.wustl.edu	37	4	86925	86925	+	3'UTR	SNP	A	A	G	rs61745977	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr4:86925A>G	ENST00000339368.6	+	0	1734							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		CTACAAATGTAAAGAATGTGG	0.378																																																	0													51.0	58.0	56.0					4																	86925		2108	4255	6363	SO:0001624	3_prime_UTR_variant	152687			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1731A>G	4.37:g.86925A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-		0.378	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	A	NM_182524		86925	+1	no_errors	ENST00000339368	ensembl	human	known	70_37	rna	SNP	0.820	G
ZNF675	171392	genome.wustl.edu	37	19	23836182	23836182	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23836182C>T	ENST00000359788.4	-	4	1721	c.1553G>A	c.(1552-1554)aGc>aAc	p.S518N	ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	518					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGAGGATCGGCTAAAAGCTTT	0.373																																																	0													56.0	59.0	58.0					19																	23836182		2201	4298	6499	SO:0001583	missense	171392				CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.1553G>A	19.37:g.23836182C>T	ENSP00000352836:p.Ser518Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N211	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S518N	ENST00000359788.4	37	c.1553	CCDS32981.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.115748	0.00032	.	.	ENSG00000197372	ENST00000359788	T	0.07567	3.18	0.886	-1.77	0.07982	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04003	0.0112	L	0.28014	0.82	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46386	-0.9195	9	0.02654	T	1	.	4.8204	0.13387	0.0:0.5896:0.2183:0.1921	.	518	Q8TD23	ZN675_HUMAN	N	518	ENSP00000352836:S518N	ENSP00000352836:S518N	S	-	2	0	ZNF675	23628022	0.000000	0.05858	0.751000	0.31187	0.753000	0.42808	-7.641000	0.00032	-0.697000	0.05092	-0.683000	0.03753	AGC	ZNF675	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF675	HGNC	protein_coding	OTTHUMT00000466433.1	C	NM_138330		23836182	-1	no_errors	ENST00000359788	ensembl	human	known	70_37	missense	SNP	0.007	T
ZNF613	79898	genome.wustl.edu	37	19	52443521	52443521	+	Silent	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:52443521C>T	ENST00000293471.6	+	4	754	c.75C>T	c.(73-75)ctC>ctT	p.L25L	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	25	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GGCAGCTCCTCGGCCCTGCTC	0.522																																																	0													125.0	119.0	121.0					19																	52443521		2203	4300	6503	SO:0001819	synonymous_variant	79898			AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.75C>T	19.37:g.52443521C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96SS9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L25	ENST00000293471.6	37	c.75	CCDS33089.1	19																																																																																			ZNF613	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.522	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF613	HGNC	protein_coding	OTTHUMT00000461104.2	C	NM_024840		52443521	+1	no_errors	ENST00000293471	ensembl	human	known	70_37	silent	SNP	0.685	T
ZNF678	339500	genome.wustl.edu	37	1	227843441	227843441	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:227843441G>C	ENST00000343776.5	+	4	1835	c.1490G>C	c.(1489-1491)gGt>gCt	p.G497A	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.G552A	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	497					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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TGTGGAAAAGGTTTTTACCAA	0.353																																																	0													44.0	47.0	46.0					1																	227843441		2202	4296	6498	SO:0001583	missense	339500			BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	ENST00000343776.5:c.1490G>C	1.37:g.227843441G>C	ENSP00000344828:p.Gly497Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVQ9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G552A	ENST00000343776.5	37	c.1655		1	.	.	.	.	.	.	.	.	.	.	G	0	-2.805447	0.00075	.	.	ENSG00000181450	ENST00000343776;ENST00000397097	T;T	0.34472	1.36;1.36	1.21	-0.4	0.12411	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11281	0.0275	N	0.02539	-0.55	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.33240	-0.9876	9	0.02654	T	1	.	7.1151	0.25412	0.0:0.4579:0.5421:0.0	.	497	Q5SXM1	ZN678_HUMAN	A	497;552	ENSP00000344828:G497A;ENSP00000440403:G552A	ENSP00000344828:G497A	G	+	2	0	ZNF678	225910064	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.046000	0.11983	-0.430000	0.07318	-0.430000	0.05897	GGT	ZNF678	-	pfscan_Znf_C2H2		0.353	ZNF678-001	KNOWN	basic	protein_coding	ZNF678	HGNC	protein_coding	OTTHUMT00000091976.2	G	NM_178549		227843441	+1	no_errors	ENST00000397097	ensembl	human	known	70_37	missense	SNP	0.010	C
ZNF680	340252	genome.wustl.edu	37	7	63981679	63981679	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:63981679C>T	ENST00000309683.6	-	4	1604	c.1453G>A	c.(1453-1455)Gct>Act	p.A485T	ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	485					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(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				TTCTCTCTAGCATGAATTCTC	0.373																																																	0													65.0	66.0	65.0					7																	63981679		2203	4300	6503	SO:0001583	missense	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.1453G>A	7.37:g.63981679C>T	ENSP00000309330:p.Ala485Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVJ4|Q6ZNF3|Q8NC79	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A485T	ENST00000309683.6	37	c.1453	CCDS34644.1	7	.	.	.	.	.	.	.	.	.	.	c	3.969	-0.008784	0.07727	.	.	ENSG00000173041	ENST00000309683	T	0.11712	2.75	1.31	-0.703	0.11261	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02012	0.0063	N	0.00823	-1.155	0.80722	D	1	B	0.11235	0.004	B	0.08055	0.003	T	0.46442	-0.9191	9	0.02654	T	1	.	3.4495	0.07493	0.0:0.4144:0.0:0.5856	.	485	Q8NEM1	ZN680_HUMAN	T	485	ENSP00000309330:A485T	ENSP00000309330:A485T	A	-	1	0	ZNF680	63619114	0.995000	0.38212	0.052000	0.19188	0.764000	0.43329	0.329000	0.19698	-0.191000	0.10448	0.478000	0.44815	GCT	ZNF680	-	pfscan_Znf_C2H2		0.373	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	C	NM_178558		63981679	-1	no_errors	ENST00000309683	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF681	148213	genome.wustl.edu	37	19	23926945	23926945	+	Silent	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23926945T>C	ENST00000402377.3	-	4	1548	c.1407A>G	c.(1405-1407)aaA>aaG	p.K469K	ZNF681_ENST00000395385.3_Silent_p.K400K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	469					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TATGAATTCTTTTATGTGTAG	0.358																																																	0													49.0	53.0	52.0					19																	23926945		2203	4298	6501	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1407A>G	19.37:g.23926945T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVF7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K469	ENST00000402377.3	37	c.1407	CCDS12414.2	19																																																																																			ZNF681	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	T	NM_138286		23926945	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	silent	SNP	0.990	C
ZNF681	148213	genome.wustl.edu	37	19	23927026	23927026	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23927026A>T	ENST00000402377.3	-	4	1467	c.1326T>A	c.(1324-1326)aaT>aaA	p.N442K	ZNF681_ENST00000395385.3_Missense_Mutation_p.N373K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	442					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CAGTATGAATATTCTTATGTT	0.358																																																	0													55.0	58.0	57.0					19																	23927026		2203	4300	6503	SO:0001583	missense	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1326T>A	19.37:g.23927026A>T	ENSP00000384000:p.Asn442Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVF7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N442K	ENST00000402377.3	37	c.1326	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	1.504	-0.551237	0.03996	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.12569	2.67;2.67	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.01405	-0.89	0.20703	N	0.999863	B	0.17465	0.022	B	0.08055	0.003	T	0.36696	-0.9737	9	0.29301	T	0.29	.	2.3147	0.04196	0.3747:0.1847:0.0:0.4405	.	442	Q96N22	ZN681_HUMAN	K	442;373	ENSP00000384000:N442K;ENSP00000378783:N373K	ENSP00000378783:N373K	N	-	3	2	ZNF681	23718866	0.000000	0.05858	0.016000	0.15963	0.144000	0.21451	-1.279000	0.02807	-1.284000	0.02390	-0.991000	0.02546	AAT	ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23927026	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	missense	SNP	0.897	T
ZNF695	57116	genome.wustl.edu	37	1	247150416	247150416	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr1:247150416T>A	ENST00000339986.7	-	4	1548	c.1401A>T	c.(1399-1401)gaA>gaT	p.E467D	ZNF695_ENST00000487338.2_Intron|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	467					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TGCCACATTCTTCACATTTGT	0.388																																																	0																																										SO:0001583	missense	57116				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1401A>T	1.37:g.247150416T>A	ENSP00000341236:p.Glu467Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E467D	ENST00000339986.7	37	c.1401	CCDS44344.1	1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.748658	0.30955	.	.	ENSG00000197472	ENST00000339986	T	0.07567	3.18	0.642	0.642	0.17765	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02888	0.0086	N	0.02420	-0.555	0.09310	N	1	B	0.32245	0.361	B	0.27500	0.08	T	0.40701	-0.9549	9	0.54805	T	0.06	.	5.509	0.16870	0.0:1.0E-4:0.0:0.9999	.	467	Q8IW36	ZN695_HUMAN	D	467	ENSP00000341236:E467D	ENSP00000341236:E467D	E	-	3	2	ZNF695	245217039	0.000000	0.05858	0.364000	0.25888	0.784000	0.44337	-8.309000	0.00022	0.534000	0.28695	0.172000	0.16884	GAA	ZNF695	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	T	NM_020394		247150416	-1	no_errors	ENST00000339986	ensembl	human	known	70_37	missense	SNP	0.377	A
ZNF708	7562	genome.wustl.edu	37	19	21476519	21476519	+	Missense_Mutation	SNP	T	T	C			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:21476519T>C	ENST00000356929.3	-	4	1446	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	353					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)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGGGTTTCTTTCCAGTATGA	0.343																																																	0													51.0	55.0	53.0					19																	21476519		2200	4298	6498	SO:0001583	missense	7562			X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1249A>G	19.37:g.21476519T>C	ENSP00000349401:p.Lys417Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZMR0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K417E	ENST00000356929.3	37	c.1249	CCDS32980.1	19	.	.	.	.	.	.	.	.	.	.	.	0.007	-2.010251	0.00426	.	.	ENSG00000182141	ENST00000356929	T	0.12672	2.66	1.05	-2.1	0.07210	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.01417	-0.88	0.23056	N	0.998366	B	0.02656	0.0	B	0.01281	0.0	T	0.38542	-0.9656	9	0.02654	T	1	.	7.3011	0.26422	0.0:0.6317:0.0:0.3683	.	417	P17019	ZN708_HUMAN	E	417	ENSP00000349401:K417E	ENSP00000349401:K417E	K	-	1	0	ZNF708	21268359	0.000000	0.05858	0.077000	0.20336	0.069000	0.16628	-0.024000	0.12435	-1.351000	0.02197	-1.371000	0.01190	AAG	ZNF708	-	pfscan_Znf_C2H2		0.343	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF708	HGNC	protein_coding	OTTHUMT00000463953.1	T	NM_021269		21476519	-1	no_errors	ENST00000356929	ensembl	human	known	70_37	missense	SNP	0.995	C
ZNF727	442319	genome.wustl.edu	37	7	63538449	63538450	+	Missense_Mutation	DNP	TT	TT	AA	rs560788377		TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr7:63538449_63538450TT>AA	ENST00000550760.3	+	4	1201_1202	c.1022_1023TT>AA	c.(1021-1023)aTT>aAA	p.I341K	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						AAACCCTACATTTGTGAAGAAT	0.396																																																	0																																										SO:0001583	missense	442319					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	Exception_encountered	7.37:g.63538449_63538450delinsAA	ENSP00000447987:p.Ile341Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation|Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I341N|p.I341	ENST00000550760.3	37	c.1022|c.1023	CCDS55113.1	7																																																																																			ZNF727	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.396	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		T	NM_001159522		63538449|63538450	+1	no_errors	ENST00000550760	ensembl	human	known	70_37	missense|silent	SNP	0.008|0.014	A
ZNF729	100287226	genome.wustl.edu	37	19	22498461	22498461	+	Missense_Mutation	SNP	T	T	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22498461T>G	ENST00000601693.1	+	4	2360	c.2242T>G	c.(2242-2244)Tct>Gct	p.S748A	ZNF729_ENST00000357491.6_Missense_Mutation_p.S748A			A6NN14	ZN729_HUMAN	zinc finger protein 729	748					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						ATGTGGCAAATCTTTTAAGCA	0.343																																																	0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.2242T>G	19.37:g.22498461T>G	ENSP00000469582:p.Ser748Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QY45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S748A	ENST00000601693.1	37	c.2242	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.943836	0.00052	.	.	ENSG00000196350	ENST00000357491	T	0.07216	3.21	0.996	-1.99	0.07457	.	.	.	.	.	T	0.02767	0.0083	N	0.11154	0.105	.	.	.	.	.	.	.	.	.	T	0.45571	-0.9252	6	0.02654	T	1	.	3.3733	0.07228	0.1901:0.0:0.2191:0.5908	.	.	.	.	A	748	ENSP00000350085:S748A	ENSP00000350085:S748A	S	+	1	0	ZNF729	22290301	0.000000	0.05858	0.038000	0.18304	0.034000	0.12701	-3.979000	0.00321	-0.710000	0.05001	-0.737000	0.03537	TCT	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.343	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	T	XM_496301		22498461	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	missense	SNP	0.256	G
ZNF729	100287226	genome.wustl.edu	37	19	22499446	22499446	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22499446G>A	ENST00000601693.1	+	4	3345	c.3227G>A	c.(3226-3228)tGc>tAc	p.C1076Y	ZNF729_ENST00000357491.6_Missense_Mutation_p.C1048Y			A6NN14	ZN729_HUMAN	zinc finger protein 729	1076					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(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						GAGAAACCCTGCAAATGTGAA	0.378																																																	0																																										SO:0001583	missense	100287226				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.3227G>A	19.37:g.22499446G>A	ENSP00000469582:p.Cys1076Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	M0QY45	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C1076Y	ENST00000601693.1	37	c.3227	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.327412	0.00017	.	.	ENSG00000196350	ENST00000357491	T	0.12039	2.72	0.96	-1.78	0.07957	.	.	.	.	.	T	0.03348	0.0097	.	.	.	.	.	.	.	.	.	.	.	.	T	0.40794	-0.9544	5	0.02654	T	1	.	2.0879	0.03650	0.533:0.0:0.2117:0.2553	.	.	.	.	Y	1048	ENSP00000350085:C1048Y	ENSP00000350085:C1048Y	C	+	2	0	ZNF729	22291286	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.280000	0.08468	-0.502000	0.06596	-0.499000	0.04595	TGC	ZNF729	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	G	XM_496301		22499446	+1	no_errors	ENST00000601693	ensembl	human	novel	70_37	missense	SNP	0.014	A
ZNF737	100129842	genome.wustl.edu	37	19	20728085	20728085	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20728085G>A	ENST00000427401.4	-	4	1018	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	308					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(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						GTTTCTCTCCGCTATGAATTA	0.408																																																	0													42.0	42.0	42.0					19																	20728085		692	1591	2283	SO:0001819	synonymous_variant	100129842			BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.924C>T	19.37:g.20728085G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JHM3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S308	ENST00000427401.4	37	c.924	CCDS54238.1	19																																																																																			ZNF737	-	pfscan_Znf_C2H2		0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF737	HGNC	protein_coding	OTTHUMT00000447844.2	G	NM_145289		20728085	-1	no_errors	ENST00000427401	ensembl	human	known	70_37	silent	SNP	0.997	A
ZNF730	100129543	genome.wustl.edu	37	19	23328857	23328857	+	Silent	SNP	A	A	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:23328857A>G	ENST00000597761.2	+	4	1210	c.1011A>G	c.(1009-1011)gaA>gaG	p.E337E		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	337					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATAATGGAGAAAAACCCTACA	0.348																																																	0																																										SO:0001819	synonymous_variant	100129543			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.1011A>G	19.37:g.23328857A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E337	ENST00000597761.2	37	c.1011	CCDS59371.1	19																																																																																			ZNF730	-	pfscan_Znf_C2H2		0.348	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	A	XM_001719792		23328857	+1	no_errors	ENST00000327867	ensembl	human	known	70_37	silent	SNP	1.000	G
ZNF761	388561	genome.wustl.edu	37	19	53958477	53958477	+	RNA	SNP	C	C	G			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:53958477C>G	ENST00000454407.1	+	0	1169							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATCCATTTAGCAGACAAATAT	0.383																																																	0													112.0	111.0	111.0					19																	53958477		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958477C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.383	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		C	NM_001008401		53958477	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.627	G
ZNF90	7643	genome.wustl.edu	37	19	20229473	20229473	+	Silent	SNP	G	G	A			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:20229473G>A	ENST00000418063.2	+	4	1222	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	370					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AACCCTACAAGTGTGATAAAT	0.388																																																	0													39.0	37.0	37.0					19																	20229473		692	1591	2283	SO:0001819	synonymous_variant	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.1110G>A	19.37:g.20229473G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH87	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K370	ENST00000418063.2	37	c.1110	CCDS46028.1	19																																																																																			ZNF90	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	HGNC	protein_coding	OTTHUMT00000350101.1	G	NM_007138		20229473	+1	no_errors	ENST00000418063	ensembl	human	known	70_37	silent	SNP	0.003	A
ZNF99	7652	genome.wustl.edu	37	19	22939435	22939435	+	IGR	SNP	C	C	T	rs565027646	byFrequency	TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:22939435C>T	ENST00000596209.1	-	0	2686				CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Silent_p.G912G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGGTTTCTCCCCAGTATGAA	0.358													C|||	72	0.014377	0.0499	0.0	5008	,	,		16953	0.004		0.0	False		,,,				2504	0.002																0													34.0	48.0	43.0					19																	22939435		1948	4231	6179	SO:0001628	intergenic_variant	7652			BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4			19.37:g.22939435C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	M0R335	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G912	ENST00000596209.1	37	c.2736	CCDS59369.1	19																																																																																			ZNF99	-	pfscan_Znf_C2H2		0.358	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	HGNC	protein_coding	OTTHUMT00000464591.1	C	XM_065124		22939435	-1	no_errors	ENST00000397104	ensembl	human	known	70_37	silent	SNP	0.995	T
ZNF761	388561	genome.wustl.edu	37	19	53959137	53959137	+	RNA	SNP	G	G	T			TCGA-DS-A1OA-01A-11D-A16Y-08	TCGA-DS-A1OA-10A-01D-A16Y-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3aadb02-a271-47dd-b809-f85e52506c71	c507e1ee-91f4-4535-ac84-4f6c368b7448	g.chr19:53959137G>T	ENST00000454407.1	+	0	1829							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CATCGTAGACGTCATACTGGA	0.393																																																	0													101.0	105.0	104.0					19																	53959137		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53959137G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.393	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53959137	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.001	T
